KEGG   Homo sapiens (human): 779
Entry
779               CDS       T01001                                 

Gene name
CACNA1S, CACNL1A3, CCHL1A3, Cav1.1, HOKPP, HOKPP1, MHS5, TTPP1, hypoPP
Definition
(RefSeq) calcium voltage-gated channel subunit alpha1 S
  KO
K04857  voltage-dependent calcium channel L type alpha-1S
Organism
hsa  Homo sapiens (human)
Pathway
hsa04010  MAPK signaling pathway
hsa04020  Calcium signaling pathway
hsa04022  cGMP-PKG signaling pathway
hsa04024  cAMP signaling pathway
hsa04260  Cardiac muscle contraction
hsa04261  Adrenergic signaling in cardiomyocytes
hsa04270  Vascular smooth muscle contraction
hsa04723  Retrograde endocannabinoid signaling
hsa04725  Cholinergic synapse
hsa04726  Serotonergic synapse
hsa04727  GABAergic synapse
hsa04911  Insulin secretion
hsa04912  GnRH signaling pathway
hsa04921  Oxytocin signaling pathway
hsa04924  Renin secretion
hsa04925  Aldosterone synthesis and secretion
hsa04927  Cortisol synthesis and secretion
hsa04929  GnRH secretion
hsa04934  Cushing syndrome
hsa04935  Growth hormone synthesis, secretion and action
hsa05010  Alzheimer disease
hsa05020  Prion disease
hsa05022  Pathways of neurodegeneration - multiple diseases
hsa05207  Chemical carcinogenesis - receptor activation
hsa05410  Hypertrophic cardiomyopathy
hsa05412  Arrhythmogenic right ventricular cardiomyopathy
hsa05414  Dilated cardiomyopathy
Network
nt06410  Calcium signaling
nt06460  Alzheimer disease
nt06461  Huntington disease
nt06462  Spinocerebellar ataxia
nt06463  Parkinson disease
nt06465  Prion disease
  Element
N00967  VGCC-Ca2+ -apoptotic pathway
N01004  Mutation-caused aberrant Abeta to VGCC-Ca2+ -apoptotic pathway
N01201  Scrapie conformation PrPSc to VGCC-Ca2+ -apoptotic pathway
Disease
H00215  Periodic paralysis
H00746  Hypokalemic periodic paralysis (HypoPP)
Drug target
Amlodipine (DG00322): D00615<JP/US> D02914 D07450 D11881<US>
Aranidipine: D01562<JP>
Azelnidipine: D01145<JP>
Barnidipine (DG00325): D01104<JP> D07494
Belfosdil: D03067
Benidipine (DG00327): D02045<JP> D07509
Bepridil (DG00333): D00631<JP> D07520
Bevantolol: D01369<JP>
Cilnidipine: D01173<JP>
Clentiazem maleate: D03536
Clevidipine: D08892<US>
Darodipine: D03655
Diltiazem (DG00331): D00616<JP/US> D03830 D07845
Dronedarone (DG00207): D02537 D03914<US>
Efonidipine (DG01382): D01604<JP> D07886
Etripamil: D10932
Felodipine: D00319<JP/US>
Fendiline (DG00332): D07185 D07943
Flordipine: D04193
Fostedil: D04260
Gallopamil (DG00330): D01969 D08009
Isradipine: D00349<US>
Kirenidipine hydrochloride: D09789
Lacidipine: D04657
Lemildipine: D01151
Lercanidipine (DG00326): D01849 D08111
Levamlodipine (DG03091): D08941 D11723<US>
Levosemotiadil fumarate: D09833
Manidipine (DG00324): D01553<JP> D08155
Mibefradil (DG00328): D05024 D08217
Monatepil maleate: D01171
Nicardipine (DG00323): D00617<JP/US> D08270
Nifedipine: D00437<JP/US>
Nilvadipine: D01908<JP>
Nimodipine: D00438<US>
Nisoldipine: D00618<US>
Nitrendipine: D00629<JP>
Paramethadione: D00495
Perhexiline (DG00334): D05442 D08340
Pinaverium: D07094
Propiverine (DG00479): D01007<JP> D08441
Tamolarizine hydrochloride: D11102
Tiapamil hydrochloride: D06129
Topiramate: D00537<JP/US>
Vatanidipine hydrochloride: D01933
Verapamil (DG00329): D00619<JP/US> D02356
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04010 MAPK signaling pathway
    779 (CACNA1S)
   04020 Calcium signaling pathway
    779 (CACNA1S)
   04024 cAMP signaling pathway
    779 (CACNA1S)
   04022 cGMP-PKG signaling pathway
    779 (CACNA1S)
 09150 Organismal Systems
  09152 Endocrine system
   04911 Insulin secretion
    779 (CACNA1S)
   04929 GnRH secretion
    779 (CACNA1S)
   04912 GnRH signaling pathway
    779 (CACNA1S)
   04921 Oxytocin signaling pathway
    779 (CACNA1S)
   04935 Growth hormone synthesis, secretion and action
    779 (CACNA1S)
   04924 Renin secretion
    779 (CACNA1S)
   04925 Aldosterone synthesis and secretion
    779 (CACNA1S)
   04927 Cortisol synthesis and secretion
    779 (CACNA1S)
  09153 Circulatory system
   04260 Cardiac muscle contraction
    779 (CACNA1S)
   04261 Adrenergic signaling in cardiomyocytes
    779 (CACNA1S)
   04270 Vascular smooth muscle contraction
    779 (CACNA1S)
  09156 Nervous system
   04727 GABAergic synapse
    779 (CACNA1S)
   04725 Cholinergic synapse
    779 (CACNA1S)
   04726 Serotonergic synapse
    779 (CACNA1S)
   04723 Retrograde endocannabinoid signaling
    779 (CACNA1S)
 09160 Human Diseases
  09161 Cancer: overview
   05207 Chemical carcinogenesis - receptor activation
    779 (CACNA1S)
  09164 Neurodegenerative disease
   05010 Alzheimer disease
    779 (CACNA1S)
   05020 Prion disease
    779 (CACNA1S)
   05022 Pathways of neurodegeneration - multiple diseases
    779 (CACNA1S)
  09166 Cardiovascular disease
   05410 Hypertrophic cardiomyopathy
    779 (CACNA1S)
   05412 Arrhythmogenic right ventricular cardiomyopathy
    779 (CACNA1S)
   05414 Dilated cardiomyopathy
    779 (CACNA1S)
  09167 Endocrine and metabolic disease
   04934 Cushing syndrome
    779 (CACNA1S)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04040 Ion channels [BR:hsa04040]
    779 (CACNA1S)
Ion channels [BR:hsa04040]
 Voltage-gated cation channels
  Calcium channel, voltage-gated (Cav)
   779 (CACNA1S)
SSDB
Motif
Pfam: Ion_trans GPHH Ca_chan_IQ PKD_channel CAC1F_C
Other DBs
NCBI-GeneID: 779
NCBI-ProteinID: NP_000060
OMIM: 114208
HGNC: 1397
Ensembl: ENSG00000081248
Vega: OTTHUMG00000035784
Pharos: Q13698(Tchem)
UniProt: Q13698
LinkDB
Structure
PDB: 
2VAY

Position
1q32.1
AA seq 1873 aa
MEPSSPQDEGLRKKQPKKPVPEILPRPPRALFCLTLENPLRKACISIVEWKPFETIILLT
IFANCVALAVYLPMPEDDNNSLNLGLEKLEYFFLIVFSIEAAMKIIAYGFLFHQDAYLRS
GWNVLDFTIVFLGVFTVILEQVNVIQSHTAPMSSKGAGLDVKALRAFRVLRPLRLVSGVP
SLQVVLNSIFKAMLPLFHIALLVLFMVIIYAIIGLELFKGKMHKTCYFIGTDIVATVENE
EPSPCARTGSGRRCTINGSECRGGWPGPNHGITHFDNFGFSMLTVYQCITMEGWTDVLYW
VNDAIGNEWPWIYFVTLILLGSFFILNLVLGVLSGEFTKEREKAKSRGTFQKLREKQQLD
EDLRGYMSWITQGEVMDVEDFREGKLSLDEGGSDTESLYEIAGLNKIIQFIRHWRQWNRI
FRWKCHDIVKSKVFYWLVILIVALNTLSIASEHHNQPLWLTRLQDIANRVLLSLFTTEML
MKMYGLGLRQYFMSIFNRFDCFVVCSGILEILLVESGAMTPLGISVLRCIRLLRIFKITK
YWTSLSNLVASLLNSIRSIASLLLLLFLFIVIFALLGMQLFGGRYDFEDTEVRRSNFDNF
PQALISVFQVLTGEDWTSMMYNGIMAYGGPSYPGMLVCIYFIILFVCGNYILLNVFLAIA
VDNLAEAESLTSAQKAKAEEKKRRKMSKGLPDKSEEEKSTMAKKLEQKPKGEGIPTTAKL
KIDEFESNVNEVKDPYPSADFPGDDEEDEPEIPLSPRPRPLAELQLKEKAVPIPEASSFF
IFSPTNKIRVLCHRIVNATWFTNFILLFILLSSAALAAEDPIRADSMRNQILKHFDIGFT
SVFTVEIVLKMTTYGAFLHKGSFCRNYFNMLDLLVVAVSLISMGLESSAISVVKILRVLR
VLRPLRAINRAKGLKHVVQCMFVAISTIGNIVLVTTLLQFMFACIGVQLFKGKFFRCTDL
SKMTEEECRGYYYVYKDGDPMQIELRHREWVHSDFHFDNVLSAMMSLFTVSTFEGWPQLL
YKAIDSNAEDVGPIYNNRVEMAIFFIIYIILIAFFMMNIFVGFVIVTFQEQGETEYKNCE
LDKNQRQCVQYALKARPLRCYIPKNPYQYQVWYIVTSSYFEYLMFALIMLNTICLGMQHY
NQSEQMNHISDILNVAFTIIFTLEMILKLMAFKARGYFGDPWNVFDFLIVIGSIIDVILS
EIDTFLASSGGLYCLGGGCGNVDPDESARISSAFFRLFRVMRLIKLLSRAEGVRTLLWTF
IKSFQALPYVALLIVMLFFIYAVIGMQMFGKIALVDGTQINRNNNFQTFPQAVLLLFRCA
TGEAWQEILLACSYGKLCDPESDYAPGEEYTCGTNFAYYYFISFYMLCAFLVINLFVAVI
MDNFDYLTRDWSILGPHHLDEFKAIWAEYDPEAKGRIKHLDVVTLLRRIQPPLGFGKFCP
HRVACKRLVGMNMPLNSDGTVTFNATLFALVRTALKIKTEGNFEQANEELRAIIKKIWKR
TSMKLLDQVIPPIGDDEVTVGKFYATFLIQEHFRKFMKRQEEYYGYRPKKDIVQIQAGLR
TIEEEAAPEICRTVSGDLAAEEELERAMVEAAMEEGIFRRTGGLFGQVDNFLERTNSLPP
VMANQRPLQFAEIEMEEMESPVFLEDFPQDPRTNPLARANTNNANANVAYGNSNHSNSHV
FSSVHYEREFPEETETPATRGRALGQPCRVLGPHSKPCVEMLKGLLTQRAMPRGQAPPAP
CQCPRVESSMPEDRKSSTPGSLHEETPHSRSTRENTSRCSAPATALLIQKALVRGGLGTL
AADANFIMATGQALADACQMEPEEVEIMATELLKGREAPEGMASSLGCLNLGSSLGSLDQ
HQGSQETLIPPRL
NT seq 5622 nt   +upstreamnt  +downstreamnt
atggagccatcctcaccccaggatgaaggcctgaggaagaaacagcccaagaagccagtt
cctgagattctgccaaggccaccccgggccttgttctgcctgaccctggagaaccccctg
aggaaggcctgcatcagcattgtagaatggaagcccttcgagacgatcatcttgctcacc
atctttgccaattgtgtggccctggccgtgtacctgcccatgccggaagatgacaacaac
tctctgaacctcggcctggagaagctggagtatttcttcctcattgtcttctcgattgaa
gccgccatgaagatcattgcctacggcttcttattccaccaggacgcttacctgcgcagt
ggctggaatgtgctggacttcaccattgtcttcctgggggtcttcaccgtgattctggaa
caggttaacgtcatccaaagccacacagccccaatgagcagcaaaggagccggcttggat
gtcaaggccctcagagccttccgagtgctcagacccctccggctggtgtcgggggtgcct
agcctgcaggtggtcctgaactccatcttcaaggccatgctccccctctttcacatcgcc
ctgctggtcctctttatggtcatcatctatgccatcatcgggctggagctcttcaagggc
aagatgcacaagacctgctacttcattggtacagatatcgtggccacggtggagaatgaa
gagccatcgccctgcgccaggacgggctcagggcgccggtgcaccatcaatggcagtgag
tgccggggcggctggccagggcccaaccatggcatcacccacttcgacaacttcggcttc
tccatgctcaccgtgtaccagtgcattaccatggagggatggactgacgtcctttactgg
gtcaatgatgccatcgggaatgagtggccctggatctattttgtcaccctcattttgctg
ggatccttcttcatcctcaacctggtgctgggtgtcctgagtggggaattcaccaaggag
cgggagaaggccaagtccaggggaaccttccagaagctccgggagaagcagcaactagat
gaggaccttcggggctacatgagctggatcacgcagggcgaggtcatggatgttgaggac
ttcagagaaggaaaactgtctttggatgaaggtggctctgacacagagagcctgtatgaa
attgcaggcttgaacaaaatcatccagttcatccgacattggaggcagtggaaccgcatc
tttcgctggaagtgccatgacatcgtgaagtccaaggtcttctattggctggtgattctc
atcgttgccctcaacaccctgtctatcgcctcagagcaccacaaccagcctctctggctg
acccgtttgcaagacattgccaaccgggtgctgctgtccctcttcaccactgagatgctg
atgaagatgtacgggctgggcctgcgccagtacttcatgtctatcttcaaccgcttcgac
tgcttcgtggtgtgtagcggtatcctggagatcctgctggtggagtcgggtgccatgaca
cccctgggcatctccgtgctccgctgcatccgcctcctgaggatcttcaagatcaccaaa
tattggacgtcgctgagcaacctggtggcatccctgctcaactccatccgctccatcgcc
tccctgctgctgctgctcttcctcttcatcgtcatcttcgccctcctgggcatgcagctc
tttggggggaggtatgactttgaagacacagaagtacggcgcagcaactttgacaacttt
ccccaagccctcatcagcgtcttccaggtactgacaggggaagactggacctcaatgatg
tacaatgggatcatggcctacggcgggccgtcctaccctggcatgcttgtgtgcatttac
ttcatcatccttttcgtctgtggcaactacatcctgctcaatgtcttcctggccattgcc
gtggacaacctggccgaggcggagagcctgacttctgcccagaaggccaaggctgaggag
aaaaaacgcaggaagatgtccaagggtctcccagacaagtcagaagaggagaagtcaacg
atggccaagaagctggagcagaaacccaagggtgagggcatccccaccactgccaagctg
aaaatcgatgagtttgaatctaatgtcaatgaggtgaaggatccctacccctcagccgac
ttcccaggggatgacgaggaagatgagcctgagatcccgctgagcccccgaccacgtccc
ctggctgagctgcagctgaaagagaaggccgtgcccattccagaagccagctccttcttc
atcttcagccccaccaataagatccgtgtcctgtgtcaccgcatcgtcaatgccacctgg
tttaccaacttcatcctgctcttcatcctgctcagcagcgctgcactggctgcggaagac
cccatccgggctgattccatgagaaatcagatccttaaacactttgacatcgggttcacc
tctgtcttcactgtggagattgtcctcaagatgacgacctacggagccttcctgcacaag
ggttccttctgccgcaattacttcaacatgctggacctgctggtggtggccgtgtccctc
atctccatgggacttgagtccagtgccatctccgtggtgaagatcctgagggtgctgagg
gtgctccgaccactcagagccatcaacagagccaaggggttgaagcacgtggtgcagtgc
atgttcgtggccatcagcaccatcgggaacatcgtgctggtcactaccctcctacagttc
atgtttgcctgcatcggcgtccagctcttcaaggggaagttcttcaggtgcaccgacttg
tccaagatgacagaggaggagtgcaggggctactactacgtgtacaaggacggggacccc
atgcagatagagctgcgtcaccgcgagtgggtacacagcgacttccacttcgacaatgtg
ctctcagccatgatgtccctcttcacggtctccaccttcgagggatggcctcagctgctg
tacaaggccatagactccaatgcggaggacgtgggtcccatctacaacaaccgtgtggag
atggccatcttcttcatcatctacatcatcctcattgccttcttcatgatgaacatcttt
gtgggcttcgtcattgtcaccttccaggagcagggagagactgagtacaagaactgtgag
ctggacaagaaccagcgccaatgtgtacagtatgccctgaaggcccgcccactgaggtgc
tacattcccaaaaacccataccagtaccaggtgtggtacattgtcacctcctcctacttt
gaatacctgatgtttgccctcatcatgctcaacaccatctgcctcggcatgcagcactac
aaccagtcggagcagatgaaccacatctcagacatcctcaatgtggccttcactatcatc
ttcaccctggagatgatcctcaagctcatggccttcaaggccaggggctactttggagac
ccctggaatgtgtttgacttcctgattgtcattggcagcatcattgatgtcatcctcagt
gagatcgacactttcctggcctccagcgggggactgtattgcctgggtggaggctgcggg
aacgttgacccagatgagagtgcccgcatctccagcgccttcttccgcctgttccgtgtc
atgaggctgatcaagctgctgagccgggcagaaggagtgcgaaccctcctgtggacgttc
atcaagtccttccaggccctaccctacgtggctctgctcatcgtcatgctcttcttcatc
tacgctgtcatcggcatgcagatgtttgggaagatcgccttggtggatgggacccaaata
aaccggaacaacaacttccagaccttcccacaagctgtgctactgctcttcaggtgtgca
acaggtgaggcctggcaggagatcctactggcctgcagctatgggaagctgtgtgaccca
gagtcggactatgccccaggggaggagtacacatgtggcaccaactttgcatactactac
ttcatcagcttctacatgctctgtgccttcctggtcatcaacctctttgtggctgtcatc
atggacaattttgactacctcacccgggactggtccatcctgggccctcatcacctggat
gagttcaaggccatctgggcagagtatgacccagaggctaaggggagaatcaaacacctg
gacgtggtgaccctgctgagaaggattcagccccctctgggctttgggaagttctgccca
catcgggtagcttgtaagcggctggtgggcatgaacatgcccctgaacagcgacggcaca
gtcaccttcaatgccacactctttgccctggtccgcacggcactcaagatcaagacggaa
ggtaactttgagcaggccaacgaggagctgagggccatcatcaagaagatctggaagaga
accagcatgaagctcttggaccaggtcatccctccaataggagatgatgaggtgacagtg
gggaagttctacgccacattcctcatccaggagcacttccggaagttcatgaaacgccaa
gaggagtattatggctatcggcccaagaaggacattgtacagatccaggcagggctgcgg
accattgaggaagaggcagcccccgagatctgtcgcacggtctcaggagacctggctgct
gaggaggagctggagagagccatggtggaggctgcgatggaggagggaatattccggagg
actggaggcctgtttggccaggtggacaacttcctggaaaggaccaactccctgcccccc
gtcatggccaatcagagacccctccagtttgctgagatagagatggaagagatggagtca
cctgtcttcttggaggacttcccacaagatccacgcaccaaccccctggctcgtgccaat
accaacaatgccaacgccaatgtcgcctatggcaacagcaaccatagcaacagccatgtg
ttttccagtgtccactatgaaagggagttcccagaagagacagagacgcctgctaccaga
ggacgagcccttggccaaccctgcagggtcctgggaccccacagcaaaccctgtgtggag
atgctgaagggactgctgacccagagggcaatgcccagaggccaggcacctcctgccccc
tgccagtgccccagggtggagtcctccatgcctgaggacagaaagagctccacaccaggg
tctcttcatgaggagacaccccacagcaggagcaccagggagaatacttccaggtgctca
gcaccagctacagccctgctgatccaaaaggctctggttcgagggggcctgggcaccttg
gcagctgatgcaaacttcatcatggcaacaggccaggccctggcagatgcctgccaaatg
gaaccagaggaagtggagatcatggcaacagagctactgaaaggacgagaggccccagag
ggcatggccagctccctgggatgcctgaacctcgggtcctccctgggcagcctcgaccaa
caccagggctcccaggagacccttattcctccaaggctgtga

KEGG   Homo sapiens (human): 775
Entry
775               CDS       T01001                                 

Gene name
CACNA1C, CACH2, CACN2, CACNL1A1, CCHL1A1, CaV1.2, LQT8, TS, TS._LQT8
Definition
(RefSeq) calcium voltage-gated channel subunit alpha1 C
  KO
K04850  voltage-dependent calcium channel L type alpha-1C
Organism
hsa  Homo sapiens (human)
Pathway
hsa04010  MAPK signaling pathway
hsa04020  Calcium signaling pathway
hsa04022  cGMP-PKG signaling pathway
hsa04024  cAMP signaling pathway
hsa04260  Cardiac muscle contraction
hsa04261  Adrenergic signaling in cardiomyocytes
hsa04270  Vascular smooth muscle contraction
hsa04713  Circadian entrainment
hsa04720  Long-term potentiation
hsa04723  Retrograde endocannabinoid signaling
hsa04724  Glutamatergic synapse
hsa04725  Cholinergic synapse
hsa04726  Serotonergic synapse
hsa04727  GABAergic synapse
hsa04728  Dopaminergic synapse
hsa04742  Taste transduction
hsa04911  Insulin secretion
hsa04912  GnRH signaling pathway
hsa04921  Oxytocin signaling pathway
hsa04924  Renin secretion
hsa04925  Aldosterone synthesis and secretion
hsa04927  Cortisol synthesis and secretion
hsa04929  GnRH secretion
hsa04930  Type II diabetes mellitus
hsa04934  Cushing syndrome
hsa04935  Growth hormone synthesis, secretion and action
hsa05010  Alzheimer disease
hsa05020  Prion disease
hsa05022  Pathways of neurodegeneration - multiple diseases
hsa05031  Amphetamine addiction
hsa05207  Chemical carcinogenesis - receptor activation
hsa05410  Hypertrophic cardiomyopathy
hsa05412  Arrhythmogenic right ventricular cardiomyopathy
hsa05414  Dilated cardiomyopathy
Network
nt06410  Calcium signaling
nt06460  Alzheimer disease
nt06461  Huntington disease
nt06462  Spinocerebellar ataxia
nt06463  Parkinson disease
nt06465  Prion disease
  Element
N00967  VGCC-Ca2+ -apoptotic pathway
N01004  Mutation-caused aberrant Abeta to VGCC-Ca2+ -apoptotic pathway
N01201  Scrapie conformation PrPSc to VGCC-Ca2+ -apoptotic pathway
Disease
H00720  Long QT syndrome
H00728  Brugada syndrome
Drug target
Amlodipine (DG00322): D00615<JP/US> D02914 D07450 D11881<US>
Aranidipine: D01562<JP>
Azelnidipine: D01145<JP>
Barnidipine (DG00325): D01104<JP> D07494
Belfosdil: D03067
Benidipine (DG00327): D02045<JP> D07509
Bepridil (DG00333): D00631<JP> D07520
Bevantolol: D01369<JP>
Cilnidipine: D01173<JP>
Clentiazem maleate: D03536
Clevidipine: D08892<US>
Darodipine: D03655
Diltiazem (DG00331): D00616<JP/US> D03830 D07845
Dronedarone (DG00207): D02537 D03914<US>
Efonidipine (DG01382): D01604<JP> D07886
Etripamil: D10932
Felodipine: D00319<JP/US>
Fendiline (DG00332): D07185 D07943
Flordipine: D04193
Fostedil: D04260
Gallopamil (DG00330): D01969 D08009
Isradipine: D00349<US>
Kirenidipine hydrochloride: D09789
Lacidipine: D04657
Lemildipine: D01151
Lercanidipine (DG00326): D01849 D08111
Levamlodipine (DG03091): D08941 D11723<US>
Levosemotiadil fumarate: D09833
Manidipine (DG00324): D01553<JP> D08155
Mibefradil (DG00328): D05024 D08217
Monatepil maleate: D01171
Nicardipine (DG00323): D00617<JP/US> D08270
Nifedipine: D00437<JP/US>
Nilvadipine: D01908<JP>
Nimodipine: D00438<US>
Nisoldipine: D00618<US>
Nitrendipine: D00629<JP>
Paramethadione: D00495
Perhexiline (DG00334): D05442 D08340
Propiverine (DG00479): D01007<JP> D08441
Tamolarizine hydrochloride: D11102
Tiapamil hydrochloride: D06129
Topiramate: D00537<JP/US>
Vatanidipine hydrochloride: D01933
Verapamil (DG00329): D00619<JP/US> D02356
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04010 MAPK signaling pathway
    775 (CACNA1C)
   04020 Calcium signaling pathway
    775 (CACNA1C)
   04024 cAMP signaling pathway
    775 (CACNA1C)
   04022 cGMP-PKG signaling pathway
    775 (CACNA1C)
 09150 Organismal Systems
  09152 Endocrine system
   04911 Insulin secretion
    775 (CACNA1C)
   04929 GnRH secretion
    775 (CACNA1C)
   04912 GnRH signaling pathway
    775 (CACNA1C)
   04921 Oxytocin signaling pathway
    775 (CACNA1C)
   04935 Growth hormone synthesis, secretion and action
    775 (CACNA1C)
   04924 Renin secretion
    775 (CACNA1C)
   04925 Aldosterone synthesis and secretion
    775 (CACNA1C)
   04927 Cortisol synthesis and secretion
    775 (CACNA1C)
  09153 Circulatory system
   04260 Cardiac muscle contraction
    775 (CACNA1C)
   04261 Adrenergic signaling in cardiomyocytes
    775 (CACNA1C)
   04270 Vascular smooth muscle contraction
    775 (CACNA1C)
  09156 Nervous system
   04724 Glutamatergic synapse
    775 (CACNA1C)
   04727 GABAergic synapse
    775 (CACNA1C)
   04725 Cholinergic synapse
    775 (CACNA1C)
   04728 Dopaminergic synapse
    775 (CACNA1C)
   04726 Serotonergic synapse
    775 (CACNA1C)
   04720 Long-term potentiation
    775 (CACNA1C)
   04723 Retrograde endocannabinoid signaling
    775 (CACNA1C)
  09157 Sensory system
   04742 Taste transduction
    775 (CACNA1C)
  09159 Environmental adaptation
   04713 Circadian entrainment
    775 (CACNA1C)
 09160 Human Diseases
  09161 Cancer: overview
   05207 Chemical carcinogenesis - receptor activation
    775 (CACNA1C)
  09164 Neurodegenerative disease
   05010 Alzheimer disease
    775 (CACNA1C)
   05020 Prion disease
    775 (CACNA1C)
   05022 Pathways of neurodegeneration - multiple diseases
    775 (CACNA1C)
  09165 Substance dependence
   05031 Amphetamine addiction
    775 (CACNA1C)
  09166 Cardiovascular disease
   05410 Hypertrophic cardiomyopathy
    775 (CACNA1C)
   05412 Arrhythmogenic right ventricular cardiomyopathy
    775 (CACNA1C)
   05414 Dilated cardiomyopathy
    775 (CACNA1C)
  09167 Endocrine and metabolic disease
   04930 Type II diabetes mellitus
    775 (CACNA1C)
   04934 Cushing syndrome
    775 (CACNA1C)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04040 Ion channels [BR:hsa04040]
    775 (CACNA1C)
Ion channels [BR:hsa04040]
 Voltage-gated cation channels
  Calcium channel, voltage-gated (Cav)
   775 (CACNA1C)
SSDB
Motif
Pfam: Ion_trans CAC1F_C GPHH Ca_chan_IQ PKD_channel
Other DBs
NCBI-GeneID: 775
NCBI-ProteinID: NP_955630
OMIM: 114205
HGNC: 1390
Ensembl: ENSG00000151067
Vega: OTTHUMG00000150243
Pharos: Q13936(Tclin)
UniProt: Q13936 Q59GU3 Q5V9X9
LinkDB
Structure
PDB: 

Position
12p13.33
AA seq 2221 aa
MVNENTRMYIPEENHQGSNYGSPRPAHANMNANAAAGLAPEHIPTPGAALSWQAAIDAAR
QAKLMGSAGNATISTVSSTQRKRQQYGKPKKQGSTTATRPPRALLCLTLKNPIRRACISI
VEWKPFEIIILLTIFANCVALAIYIPFPEDDSNATNSNLERVEYLFLIIFTVEAFLKVIA
YGLLFHPNAYLRNGWNLLDFIIVVVGLFSAILEQATKADGANALGGKGAGFDVKALRAFR
VLRPLRLVSGVPSLQVVLNSIIKAMVPLLHIALLVLFVIIIYAIIGLELFMGKMHKTCYN
QEGIADVPAEDDPSPCALETGHGRQCQNGTVCKPGWDGPKHGITNFDNFAFAMLTVFQCI
TMEGWTDVLYWVNDAVGRDWPWIYFVTLIIIGSFFVLNLVLGVLSGEFSKEREKAKARGD
FQKLREKQQLEEDLKGYLDWITQAEDIDPENEDEGMDEEKPRNMSMPTSETESVNTENVA
GGDIEGENCGARLAHRISKSKFSRYWRRWNRFCRRKCRAAVKSNVFYWLVIFLVFLNTLT
IASEHYNQPNWLTEVQDTANKALLALFTAEMLLKMYSLGLQAYFVSLFNRFDCFVVCGGI
LETILVETKIMSPLGISVLRCVRLLRIFKITRYWNSLSNLVASLLNSVRSIASLLLLLFL
FIIIFSLLGMQLFGGKFNFDEMQTRRSTFDNFPQSLLTVFQILTGEDWNSVMYDGIMAYG
GPSFPGMLVCIYFIILFICGNYILLNVFLAIAVDNLADAESLTSAQKEEEEEKERKKLAR
TASPEKKQELVEKPAVGESKEEKIELKSITADGESPPATKINMDDLQPNENEDKSPYPNP
ETTGEEDEEEPEMPVGPRPRPLSELHLKEKAVPMPEASAFFIFSSNNRFRLQCHRIVNDT
IFTNLILFFILLSSISLAAEDPVQHTSFRNHILFYFDIVFTTIFTIEIALKILGNADYVF
TSIFTLEIILKMTAYGAFLHKGSFCRNYFNILDLLVVSVSLISFGIQSSAINVVKILRVL
RVLRPLRAINRAKGLKHVVQCVFVAIRTIGNIVIVTTLLQFMFACIGVQLFKGKLYTCSD
SSKQTEAECKGNYITYKDGEVDHPIIQPRSWENSKFDFDNVLAAMMALFTVSTFEGWPEL
LYRSIDSHTEDKGPIYNYRVEISIFFIIYIIIIAFFMMNIFVGFVIVTFQEQGEQEYKNC
ELDKNQRQCVEYALKARPLRRYIPKNQHQYKVWYVVNSTYFEYLMFVLILLNTICLAMQH
YGQSCLFKIAMNILNMLFTGLFTVEMILKLIAFKPKGYFSDPWNVFDFLIVIGSIIDVIL
SETNHYFCDAWNTFDALIVVGSIVDIAITEVNPAEHTQCSPSMNAEENSRISITFFRLFR
VMRLVKLLSRGEGIRTLLWTFIKSFQALPYVALLIVMLFFIYAVIGMQVFGKIALNDTTE
INRNNNFQTFPQAVLLLFRCATGEAWQDIMLACMPGKKCAPESEPSNSTEGETPCGSSFA
VFYFISFYMLCAFLIINLFVAVIMDNFDYLTRDWSILGPHHLDEFKRIWAEYDPEAKGRI
KHLDVVTLLRRIQPPLGFGKLCPHRVACKRLVSMNMPLNSDGTVMFNATLFALVRTALRI
KTEGNLEQANEELRAIIKKIWKRTSMKLLDQVVPPAGDDEVTVGKFYATFLIQEYFRKFK
KRKEQGLVGKPSQRNALSLQAGLRTLHDIGPEIRRAISGDLTAEEELDKAMKEAVSAASE
DDIFRRAGGLFGNHVSYYQSDGRSAFPQTFTTQRPLHINKAGSSQGDTESPSHEKLVDST
FTPSSYSSTGSNANINNANNTALGRLPRPAGYPSTVSTVEGHGPPLSPAIRVQEVAWKLS
SNRERHVPMCEDLELRRDSGSAGTQAHCLLLRRANPSRCHSRESQAAMAGQEETSQDETY
EVKMNHDTEACSEPSLLSTEMLSYQDDENRQLTLPEEDKRDIRQSPKRGFLRSASLGRRA
SFHLECLKRQKDRGGDISQKTVLPLHLVHHQALAVAGLSPLLQRSHSPASFPRPFATPPA
TPGSRGWPPQPVPTLRLEGVESSEKLNSSFPSIHCGSWAETTPGGGGSSAARRVRPVSLM
VPSQAGAPGRQFHGSASSLVEAVLISEGLGQFAQDPKFIEVTTQELADACDMTIEEMESA
ADNILSGGAPQSPNGALLPFVNCRDAGQDRAGGEEDAGCVRARGRPSEEELQDSRVYVSS
L
NT seq 6666 nt   +upstreamnt  +downstreamnt
atggtcaatgagaatacgaggatgtacattccagaggaaaaccaccaaggttccaactat
gggagcccacgccccgcccatgccaacatgaatgccaatgcggcagcggggctggcccct
gagcacatccccaccccgggggctgccctgtcgtggcaggcggccatcgacgcagcccgg
caggctaagctgatgggcagcgctggcaatgcgaccatctccacagtcagctccacgcag
cggaagcggcagcaatatgggaaacccaagaagcagggcagcaccacggccacacgcccg
ccccgagccctgctctgcctgaccctgaagaaccccatccggagggcctgcatcagcatt
gtcgaatggaaaccatttgaaataattattttactgactatttttgccaattgtgtggcc
ttagcgatctatattccctttccagaagatgattccaacgccaccaattccaacctggaa
cgagtggaatatctctttctcataatttttacggtggaagcgtttttaaaagtaatcgcc
tatggactcctctttcaccccaatgcctacctccgcaacggctggaacctactagatttt
ataattgtggttgtggggctttttagtgcaattttagaacaagcaaccaaagcagatggg
gcaaacgctctcggagggaaaggggccggatttgatgtgaaggcgctgagggccttccgc
gtgctgcgccccctgcggctggtgtccggagtcccaagtctccaggtggtcctgaattcc
atcatcaaggccatggtccccctgctgcacatcgccctgcttgtgctgtttgtcatcatc
atctacgccatcatcggcttggagctcttcatggggaagatgcacaagacctgctacaac
caggagggcatagcagatgttccagcagaagatgacccttccccttgtgcgctggaaacg
ggccacgggcggcagtgccagaacggcacggtgtgcaagcccggctgggatggtcccaag
cacggcatcaccaactttgacaactttgccttcgccatgctcacggtgttccagtgcatc
accatggagggctggacggacgtgctgtactgggtcaatgatgccgtaggaagggactgg
ccctggatctattttgttacactaatcatcatagggtcattttttgtacttaacttggtt
ctcggtgtgcttagcggagagttttccaaagagagggagaaggccaaggcccggggagat
ttccagaagctgcgggagaagcagcagctagaagaggatctcaaaggctacctggattgg
atcactcaggccgaagacatcgatcctgagaatgaggacgaaggcatggatgaggagaag
ccccgaaacatgagcatgcccaccagtgagaccgagtccgtcaacaccgaaaacgtggct
ggaggtgacatcgagggagaaaactgcggggccaggctggcccaccggatctccaagtca
aagttcagccgctactggcgccggtggaatcggttctgcagaaggaagtgccgcgccgca
gtcaagtctaatgtcttctactggctggtgattttcctggtgttcctcaacacgctcacc
attgcctctgagcactacaaccagcccaactggctcacagaagtccaagacacggcaaac
aaggccctgctggccctgttcacggcagagatgctcctgaagatgtacagcctgggcctg
caggcctacttcgtgtccctcttcaaccgctttgactgcttcgtcgtgtgtggcggcatc
ctggagaccatcctggtggagaccaagatcatgtccccactgggcatctccgtgctcaga
tgcgtccggctgctgaggattttcaagatcacgaggtactggaactccttgagcaacctg
gtggcatccttgctgaactctgtgcgctccatcgcctccctgctccttctcctcttcctc
ttcatcatcatcttctccctcctggggatgcagctctttggaggaaagttcaactttgat
gagatgcagacccggaggagcacattcgataacttcccccagtccctcctcactgtgttt
cagatcctgaccggggaggactggaattcggtgatgtatgatgggatcatggcttatggc
ggcccctcttttccagggatgttagtctgtatttacttcatcatcctcttcatctgtgga
aactatatcctactgaatgtgttcttggccattgctgtggacaacctggctgatgctgag
agcctcacatctgcccaaaaggaggaggaagaggagaaggagagaaagaagctggccagg
actgccagcccagagaagaaacaagagttggtggagaagccggcagtgggggaatccaag
gaggagaagattgagctgaaatccatcacggctgacggagagtctccacccgccaccaag
atcaacatggatgacctccagcccaatgaaaatgaggataagagcccctaccccaaccca
gaaactacaggagaagaggatgaggaggagccagagatgcctgtcggccctcgcccacga
ccactctctgagcttcaccttaaggaaaaggcagtgcccatgccagaagccagcgcgttt
ttcatcttcagctctaacaacaggtttcgcctccagtgccaccgcattgtcaatgacacg
atcttcaccaacctgatcctcttcttcattctgctcagcagcatttccctggctgctgag
gacccggtccagcacacctccttcaggaaccatattctgttttattttgatattgttttt
accaccattttcaccattgaaattgctctgaagatcctaggcaatgcagactatgtcttc
actagtatctttacattagaaattatccttaagatgactgcttatggggctttcttgcac
aagggttctttctgccggaactacttcaacatcctggacctgctggtggtcagcgtgtcc
ctcatctcctttggcatccagtccagtgcaatcaatgtcgtgaagatcttgcgagtcctg
cgagtactcaggcccctgagggccatcaacagggccaaggggctaaagcatgtggttcag
tgtgtgtttgtcgccatccggaccatcgggaacatcgtgattgtcaccaccctgctgcag
ttcatgtttgcctgcatcggggtccagctcttcaagggaaagctgtacacctgttcagac
agttccaagcagacagaggcggaatgcaagggcaactacatcacgtacaaagacggggag
gttgaccaccccatcatccaaccccgcagctgggagaacagcaagtttgactttgacaat
gttctggcagccatgatggccctcttcaccgtctccaccttcgaagggtggccagagctg
ctgtaccgctccatcgactcccacacggaagacaagggccccatctacaactaccgtgtg
gagatctccatcttcttcatcatctacatcatcatcatcgccttcttcatgatgaacatc
ttcgtgggcttcgtcatcgtcacctttcaggagcagggggagcaggagtacaagaactgt
gagctggacaagaaccagcgacagtgcgtggaatacgccctcaaggcccggcccctgcgg
aggtacatccccaagaaccagcaccagtacaaagtgtggtacgtggtcaactccacctac
ttcgagtacctgatgttcgtcctcatcctgctcaacaccatctgcctggccatgcagcac
tacggccagagctgcctgttcaaaatcgccatgaacatcctcaacatgctcttcactggc
ctcttcaccgtggagatgatcctgaagctcattgccttcaaacccaagggttactttagt
gatccctggaatgtttttgacttcctcatcgtaattggcagcataattgacgtcattctc
agtgagactaatcactatttctgtgatgcatggaatacatttgacgccttgattgttgtg
ggtagcattgttgatatagcaatcaccgaggtaaacccagctgaacatacccaatgctct
ccctctatgaacgcagaggaaaactcccgcatctccatcaccttcttccgcctgttccgg
gtcatgcgtctggtgaagctgctgagccgtggggagggcatccggacgctgctgtggacc
ttcatcaagtccttccaggccctgccctatgtggccctcctgatcgtgatgctgttcttc
atctacgcggtgatcgggatgcaggtgtttgggaaaattgccctgaatgataccacagag
atcaaccggaacaacaactttcagaccttcccccaggccgtgctgctcctcttcaggtgt
gccaccggggaggcctggcaggacatcatgctggcctgcatgccaggcaagaagtgtgcc
ccagagtccgagcccagcaacagcacggagggtgaaacaccctgtggtagcagctttgct
gtcttctacttcatcagcttctacatgctctgtgccttcctgatcatcaacctctttgta
gctgtcatcatggacaactttgactacctgacaagggactggtccatccttggtccccac
cacctggatgagtttaaaagaatctgggcagagtatgaccctgaagccaagggtcgtatc
aaacacctggatgtggtgaccctcctccggcggattcagccgccactaggttttgggaag
ctgtgccctcaccgcgtggcttgcaaacgcctggtctccatgaacatgcctctgaacagc
gacgggacagtcatgttcaatgccaccctgtttgccctggtcaggacggccctgaggatc
aaaacagaagggaacctagaacaagccaatgaggagctgcgggcgatcatcaagaagatc
tggaagcggaccagcatgaagctgctggaccaggtggtgccccctgcaggtgatgatgag
gtcaccgttggcaagttctacgccacgttcctgatccaggagtacttccggaagttcaag
aagcgcaaagagcagggccttgtgggcaagccctcccagaggaacgcgctgtctctgcag
gctggcttgcgcacactgcatgacatcgggcctgagatccgacgggccatctctggagat
ctcaccgctgaggaggagctggacaaggccatgaaggaggctgtgtccgctgcttctgaa
gatgacatcttcaggagggccggtggcctgttcggcaaccacgtcagctactaccaaagc
gacggccggagcgccttcccccagaccttcaccactcagcgcccgctgcacatcaacaag
gcgggcagcagccagggcgacactgagtcgccatcccacgagaagctggtggactccacc
ttcaccccgagcagctactcgtccaccggctccaacgccaacatcaacaacgccaacaac
accgccctgggtcgcctccctcgccccgccggctaccccagcacggtcagcactgtggag
ggccacgggccccccttgtcccctgccatccgggtgcaggaggtggcgtggaagctcagc
tccaacagggaaaggcacgttccgatgtgtgaggatctggagctcaggagggattcaggc
tcagcagggactcaggctcactgccttctgctcaggagagcaaacccctctaggtgccac
tcccgggagagccaggcagccatggcgggtcaggaggagacgtctcaggatgagacctat
gaagtgaagatgaaccatgacacggaggcctgcagtgagcccagcctgctctccacagag
atgctctcctaccaggatgacgaaaatcggcaactgacgctcccagaggaggacaagagg
gacatccggcaatctccgaagaggggtttcctccgctctgcctcactaggtcgaagggcc
tccttccacctggaatgtctgaagcgacagaaggaccgagggggagacatctctcagaag
acagtcctgcccttgcatctggttcatcatcaggcattggcagtggcaggcctgagcccc
ctcctccagagaagccattcccctgcctcattccctaggccttttgccaccccaccagcc
acacctggcagccgaggctggcccccacagcccgtccccaccctgcggcttgagggggtc
gagtccagtgagaaactcaacagcagcttcccatccatccactgcggctcctgggctgag
accacccccggtggcgggggcagcagcgccgcccggagagtccggcccgtctccctcatg
gtgcccagccaggctggggccccagggaggcagttccacggcagtgccagcagcctggtg
gaagcggtcttgatttcagaaggactggggcagtttgctcaagatcccaagttcatcgag
gtcaccacccaggagctggccgacgcctgcgacatgaccatagaggagatggagagcgcg
gccgacaacatcctcagcgggggcgccccacagagccccaatggcgccctcttacccttt
gtgaactgcagggacgcggggcaggaccgagccgggggcgaagaggacgcgggctgtgtg
cgcgcgcggggtcgaccgagtgaggaggagctccaggacagcagggtctacgtcagcagc
ctgtag

KEGG   Homo sapiens (human): 776
Entry
776               CDS       T01001                                 

Gene name
CACNA1D, CACH3, CACN4, CACNL1A2, CCHL1A2, Cav1.3, PASNA, SANDD
Definition
(RefSeq) calcium voltage-gated channel subunit alpha1 D
  KO
K04851  voltage-dependent calcium channel L type alpha-1D
Organism
hsa  Homo sapiens (human)
Pathway
hsa04010  MAPK signaling pathway
hsa04020  Calcium signaling pathway
hsa04022  cGMP-PKG signaling pathway
hsa04024  cAMP signaling pathway
hsa04218  Cellular senescence
hsa04260  Cardiac muscle contraction
hsa04261  Adrenergic signaling in cardiomyocytes
hsa04270  Vascular smooth muscle contraction
hsa04530  Tight junction
hsa04713  Circadian entrainment
hsa04723  Retrograde endocannabinoid signaling
hsa04724  Glutamatergic synapse
hsa04725  Cholinergic synapse
hsa04726  Serotonergic synapse
hsa04727  GABAergic synapse
hsa04728  Dopaminergic synapse
hsa04911  Insulin secretion
hsa04912  GnRH signaling pathway
hsa04921  Oxytocin signaling pathway
hsa04924  Renin secretion
hsa04925  Aldosterone synthesis and secretion
hsa04927  Cortisol synthesis and secretion
hsa04929  GnRH secretion
hsa04930  Type II diabetes mellitus
hsa04934  Cushing syndrome
hsa04935  Growth hormone synthesis, secretion and action
hsa04973  Carbohydrate digestion and absorption
hsa05010  Alzheimer disease
hsa05020  Prion disease
hsa05022  Pathways of neurodegeneration - multiple diseases
hsa05031  Amphetamine addiction
hsa05207  Chemical carcinogenesis - receptor activation
hsa05410  Hypertrophic cardiomyopathy
hsa05412  Arrhythmogenic right ventricular cardiomyopathy
hsa05414  Dilated cardiomyopathy
Network
nt06316  Angiotensin-aldosterone signaling
nt06410  Calcium signaling
nt06460  Alzheimer disease
nt06461  Huntington disease
nt06462  Spinocerebellar ataxia
nt06463  Parkinson disease
nt06465  Prion disease
  Element
N00302  Mutation-activated CACNA1D/H to angiotensin-aldosterone signaling pathway
N00303  Mutation-activated KCNJ5 to angiotensin-aldosterone signaling pathway
N00304  Mutation-inactivated ATP1A1 to angiotensin-aldosterone signaling pathway
N00967  VGCC-Ca2+ -apoptotic pathway
N01004  Mutation-caused aberrant Abeta to VGCC-Ca2+ -apoptotic pathway
N01201  Scrapie conformation PrPSc to VGCC-Ca2+ -apoptotic pathway
Disease
H01603  Primary aldosteronism
Drug target
Amlodipine (DG00322): D00615<JP/US> D02914 D07450 D11881<US>
Aranidipine: D01562<JP>
Azelnidipine: D01145<JP>
Barnidipine (DG00325): D01104<JP> D07494
Belfosdil: D03067
Benidipine (DG00327): D02045<JP> D07509
Bepridil (DG00333): D00631<JP> D07520
Bevantolol: D01369<JP>
Cilnidipine: D01173<JP>
Clentiazem maleate: D03536
Clevidipine: D08892<US>
Darodipine: D03655
Diltiazem (DG00331): D00616<JP/US> D03830 D07845
Dronedarone (DG00207): D02537 D03914<US>
Efonidipine (DG01382): D01604<JP> D07886
Etripamil: D10932
Felodipine: D00319<JP/US>
Fendiline (DG00332): D07185 D07943
Flordipine: D04193
Fostedil: D04260
Gallopamil (DG00330): D01969 D08009
Isradipine: D00349<US>
Kirenidipine hydrochloride: D09789
Lacidipine: D04657
Lemildipine: D01151
Lercanidipine (DG00326): D01849 D08111
Levamlodipine (DG03091): D08941 D11723<US>
Levosemotiadil fumarate: D09833
Manidipine (DG00324): D01553<JP> D08155
Mibefradil (DG00328): D05024 D08217
Monatepil maleate: D01171
Nicardipine (DG00323): D00617<JP/US> D08270
Nifedipine: D00437<JP/US>
Nilvadipine: D01908<JP>
Nimodipine: D00438<US>
Nisoldipine: D00618<US>
Nitrendipine: D00629<JP>
Paramethadione: D00495
Perhexiline (DG00334): D05442 D08340
Propiverine (DG00479): D01007<JP> D08441
Tamolarizine hydrochloride: D11102
Tiapamil hydrochloride: D06129
Topiramate: D00537<JP/US>
Vatanidipine hydrochloride: D01933
Verapamil (DG00329): D00619<JP/US> D02356
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04010 MAPK signaling pathway
    776 (CACNA1D)
   04020 Calcium signaling pathway
    776 (CACNA1D)
   04024 cAMP signaling pathway
    776 (CACNA1D)
   04022 cGMP-PKG signaling pathway
    776 (CACNA1D)
 09140 Cellular Processes
  09143 Cell growth and death
   04218 Cellular senescence
    776 (CACNA1D)
  09144 Cellular community - eukaryotes
   04530 Tight junction
    776 (CACNA1D)
 09150 Organismal Systems
  09152 Endocrine system
   04911 Insulin secretion
    776 (CACNA1D)
   04929 GnRH secretion
    776 (CACNA1D)
   04912 GnRH signaling pathway
    776 (CACNA1D)
   04921 Oxytocin signaling pathway
    776 (CACNA1D)
   04935 Growth hormone synthesis, secretion and action
    776 (CACNA1D)
   04924 Renin secretion
    776 (CACNA1D)
   04925 Aldosterone synthesis and secretion
    776 (CACNA1D)
   04927 Cortisol synthesis and secretion
    776 (CACNA1D)
  09153 Circulatory system
   04260 Cardiac muscle contraction
    776 (CACNA1D)
   04261 Adrenergic signaling in cardiomyocytes
    776 (CACNA1D)
   04270 Vascular smooth muscle contraction
    776 (CACNA1D)
  09154 Digestive system
   04973 Carbohydrate digestion and absorption
    776 (CACNA1D)
  09156 Nervous system
   04724 Glutamatergic synapse
    776 (CACNA1D)
   04727 GABAergic synapse
    776 (CACNA1D)
   04725 Cholinergic synapse
    776 (CACNA1D)
   04728 Dopaminergic synapse
    776 (CACNA1D)
   04726 Serotonergic synapse
    776 (CACNA1D)
   04723 Retrograde endocannabinoid signaling
    776 (CACNA1D)
  09159 Environmental adaptation
   04713 Circadian entrainment
    776 (CACNA1D)
 09160 Human Diseases
  09161 Cancer: overview
   05207 Chemical carcinogenesis - receptor activation
    776 (CACNA1D)
  09164 Neurodegenerative disease
   05010 Alzheimer disease
    776 (CACNA1D)
   05020 Prion disease
    776 (CACNA1D)
   05022 Pathways of neurodegeneration - multiple diseases
    776 (CACNA1D)
  09165 Substance dependence
   05031 Amphetamine addiction
    776 (CACNA1D)
  09166 Cardiovascular disease
   05410 Hypertrophic cardiomyopathy
    776 (CACNA1D)
   05412 Arrhythmogenic right ventricular cardiomyopathy
    776 (CACNA1D)
   05414 Dilated cardiomyopathy
    776 (CACNA1D)
  09167 Endocrine and metabolic disease
   04930 Type II diabetes mellitus
    776 (CACNA1D)
   04934 Cushing syndrome
    776 (CACNA1D)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04040 Ion channels [BR:hsa04040]
    776 (CACNA1D)
Ion channels [BR:hsa04040]
 Voltage-gated cation channels
  Calcium channel, voltage-gated (Cav)
   776 (CACNA1D)
SSDB
Motif
Pfam: Ion_trans CAC1F_C Ca_chan_IQ GPHH PKD_channel
Other DBs
NCBI-GeneID: 776
NCBI-ProteinID: NP_001122312
OMIM: 114206
HGNC: 1391
Ensembl: ENSG00000157388
Vega: OTTHUMG00000158278
Pharos: Q01668(Tclin)
UniProt: Q01668 Q59GD8
LinkDB
Position
3p21.1
AA seq 2161 aa
MMMMMMMKKMQHQRQQQADHANEANYARGTRLPLSGEGPTSQPNSSKQTVLSWQAAIDAA
RQAKAAQTMSTSAPPPVGSLSQRKRQQYAKSKKQGNSSNSRPARALFCLSLNNPIRRACI
SIVEWKPFDIFILLAIFANCVALAIYIPFPEDDSNSTNHNLEKVEYAFLIIFTVETFLKI
IAYGLLLHPNAYVRNGWNLLDFVIVIVGLFSVILEQLTKETEGGNHSSGKSGGFDVKALR
AFRVLRPLRLVSGVPSLQVVLNSIIKAMVPLLHIALLVLFVIIIYAIIGLELFIGKMHKT
CFFADSDIVAEEDPAPCAFSGNGRQCTANGTECRSGWVGPNGGITNFDNFAFAMLTVFQC
ITMEGWTDVLYWMNDAMGFELPWVYFVSLVIFGSFFVLNLVLGVLSGEFSKEREKAKARG
DFQKLREKQQLEEDLKGYLDWITQAEDIDPENEEEGGEEGKRNTSMPTSETESVNTENVS
GEGENRGCCGSLCQAISKSKLSRRWRRWNRFNRRRCRAAVKSVTFYWLVIVLVFLNTLTI
SSEHYNQPDWLTQIQDIANKVLLALFTCEMLVKMYSLGLQAYFVSLFNRFDCFVVCGGIT
ETILVELEIMSPLGISVFRCVRLLRIFKVTRHWTSLSNLVASLLNSMKSIASLLLLLFLF
IIIFSLLGMQLFGGKFNFDETQTKRSTFDNFPQALLTVFQILTGEDWNAVMYDGIMAYGG
PSSSGMIVCIYFIILFICGNYILLNVFLAIAVDNLADAESLNTAQKEEAEEKERKKIARK
ESLENKKNNKPEVNQIANSDNKVTIDDYREEDEDKDPYPPCDVPVGEEEEEEEEDEPEVP
AGPRPRRISELNMKEKIAPIPEGSAFFILSKTNPIRVGCHKLINHHIFTNLILVFIMLSS
AALAAEDPIRSHSFRNTILGYFDYAFTAIFTVEILLKMTTFGAFLHKGAFCRNYFNLLDM
LVVGVSLVSFGIQSSAISVVKILRVLRVLRPLRAINRAKGLKHVVQCVFVAIRTIGNIMI
VTTLLQFMFACIGVQLFKGKFYRCTDEAKSNPEECRGLFILYKDGDVDSPVVRERIWQNS
DFNFDNVLSAMMALFTVSTFEGWPALLYKAIDSNGENIGPIYNHRVEISIFFIIYIIIVA
FFMMNIFVGFVIVTFQEQGEKEYKNCELDKNQRQCVEYALKARPLRRYIPKNPYQYKFWY
VVNSSPFEYMMFVLIMLNTLCLAMQHYEQSKMFNDAMDILNMVFTGVFTVEMVLKVIAFK
PKGYFSDAWNTFDSLIVIGSIIDVALSEADPTESENVPVPTATPGNSEESNRISITFFRL
FRVMRLVKLLSRGEGIRTLLWTFIKSFQALPYVALLIAMLFFIYAVIGMQMFGKVAMRDN
NQINRNNNFQTFPQAVLLLFRCATGEAWQEIMLACLPGKLCDPESDYNPGEEYTCGSNFA
IVYFISFYMLCAFLIINLFVAVIMDNFDYLTRDWSILGPHHLDEFKRIWSEYDPEAKGRI
KHLDVVTLLRRIQPPLGFGKLCPHRVACKRLVAMNMPLNSDGTVMFNATLFALVRTALKI
KTEGNLEQANEELRAVIKKIWKKTSMKLLDQVVPPAGDDEVTVGKFYATFLIQDYFRKFK
KRKEQGLVGKYPAKNTTIALQAGLRTLHDIGPEIRRAISCDLQDDEPEETKREEEDDVFK
RNGALLGNHVNHVNSDRRDSLQQTNTTHRPLHVQRPSIPPASDTEKPLFPPAGNSVCHNH
HNHNSIGKQVPTSTNANLNNANMSKAAHGKRPSIGNLEHVSENGHHSSHKHDREPQRRSS
VKRTRYYETYIRSDSGDEQLPTICREDPEIHGYFRDPHCLGEQEYFSSEECYEDDSSPTW
SRQNYGYYSRYPGRNIDSERPRGYHHPQGFLEDDDSPVCYDSRRSPRRRLLPPTPASHRR
SSFNFECLRRQSSQEEVPSSPIFPHRTALPLHLMQQQIMAVAGLDSSKAQKYSPSHSTRS
WATPPATPPYRDWTPCYTPLIQVEQSEALDQVNGSLPSLHRSSWYTDEPDISYRTFTPAS
LTVPSSFRNKNSDKQRSADSLVEAVLISEGLGRYARDPKFVSATKHEIADACDLTIDEME
SAASTLLNGNVRPRANGDVGPLSHRQDYELQDFGPGYSDEEPDPGRDEEDLADEMICITT
L
NT seq 6486 nt   +upstreamnt  +downstreamnt
atgatgatgatgatgatgatgaaaaaaatgcagcatcaacggcagcagcaagcggaccac
gcgaacgaggcaaactatgcaagaggcaccagacttcctctttctggtgaaggaccaact
tctcagccgaatagctccaagcaaactgtcctgtcttggcaagctgcaatcgatgctgct
agacaggccaaggctgcccaaactatgagcacctctgcacccccacctgtaggatctctc
tcccaaagaaaacgtcagcaatacgccaagagcaaaaaacagggtaactcgtccaacagc
cgacctgcccgcgcccttttctgtttatcactcaataaccccatccgaagagcctgcatt
agtatagtggaatggaaaccatttgacatatttatattattggctatttttgccaattgt
gtggccttagctatttacatcccattccctgaagatgattctaattcaacaaatcataac
ttggaaaaagtagaatatgccttcctgattatttttacagtcgagacatttttgaagatt
atagcgtatggattattgctacatcctaatgcttatgttaggaatggatggaatttactg
gattttgttatagtaatagtaggattgtttagtgtaattttggaacaattaaccaaagaa
acagaaggcgggaaccactcaagcggcaaatctggaggctttgatgtcaaagccctccgt
gcctttcgagtgttgcgaccacttcgactagtgtcaggagtgcccagtttacaagttgtc
ctgaactccattataaaagccatggttcccctccttcacatagcccttttggtattattt
gtaatcataatctatgctattataggattggaactttttattggaaaaatgcacaaaaca
tgtttttttgctgactcagatatcgtagctgaagaggacccagctccatgtgcgttctca
gggaatggacgccagtgtactgccaatggcacggaatgtaggagtggctgggttggcccg
aacggaggcatcaccaactttgataactttgcctttgccatgcttactgtgtttcagtgc
atcaccatggagggctggacagatgtgctctactggatgaatgatgctatgggatttgaa
ttgccctgggtgtattttgtcagtctcgtcatctttgggtcatttttcgtactaaatctt
gtacttggtgtattgagcggagaattctcaaaggaaagagagaaggcaaaagcacgggga
gatttccagaagctccgggagaagcagcagctggaggaggatctaaagggctacttggat
tggatcacccaagctgaggacatcgatccggagaatgaggaagaaggaggagaggaaggc
aaacgaaatactagcatgcccaccagcgagactgagtctgtgaacacagagaacgtcagc
ggtgaaggcgagaaccgaggctgctgtggaagtctctgtcaagccatctcaaaatccaaa
ctcagccgacgctggcgtcgctggaaccgattcaatcgcagaagatgtagggccgccgtg
aagtctgtcacgttttactggctggttatcgtcctggtgtttctgaacaccttaaccatt
tcctctgagcactacaatcagccagattggttgacacagattcaagatattgccaacaaa
gtcctcttggctctgttcacctgcgagatgctggtaaaaatgtacagcttgggcctccaa
gcatatttcgtctctcttttcaaccggtttgattgcttcgtggtgtgtggtggaatcact
gagacgatcttggtggaactggaaatcatgtctcccctggggatctctgtgtttcggtgt
gtgcgcctcttaagaatcttcaaagtgaccaggcactggacttccctgagcaacttagtg
gcatccttattaaactccatgaagtccatcgcttcgctgttgcttctgctttttctcttc
attatcatcttttccttgcttgggatgcagctgtttggcggcaagtttaattttgatgaa
acgcaaaccaagcggagcacctttgacaatttccctcaagcacttctcacagtgttccag
atcctgacaggcgaagactggaatgctgtgatgtacgatggcatcatggcttacgggggc
ccatcctcttcaggaatgatcgtctgcatctacttcatcatcctcttcatttgtggtaac
tatattctactgaatgtcttcttggccatcgctgtagacaatttggctgatgctgaaagt
ctgaacactgctcagaaagaagaagcggaagaaaaggagaggaaaaagattgccagaaaa
gagagcctagaaaataaaaagaacaacaaaccagaagtcaaccagatagccaacagtgac
aacaaggttacaattgatgactatagagaagaggatgaagacaaggacccctatccgcct
tgcgatgtgccagtaggggaagaggaagaggaagaggaggaggatgaacctgaggttcct
gccggaccccgtcctcgaaggatctcggagttgaacatgaaggaaaaaattgcccccatc
cctgaagggagcgctttcttcattcttagcaagaccaacccgatccgcgtaggctgccac
aagctcatcaaccaccacatcttcaccaacctcatccttgtcttcatcatgctgagcagc
gctgccctggccgcagaggaccccatccgcagccactccttccggaacacgatactgggt
tactttgactatgccttcacagccatctttactgttgagatcctgttgaagatgacaact
tttggagctttcctccacaaaggggccttctgcaggaactacttcaatttgctggatatg
ctggtggttggggtgtctctggtgtcatttgggattcaatccagtgccatctccgttgtg
aagattctgagggtcttaagggtcctgcgtcccctcagggccatcaacagagcaaaagga
cttaagcacgtggtccagtgcgtcttcgtggccatccggaccatcggcaacatcatgatc
gtcaccaccctcctgcagttcatgtttgcctgtatcggggtccagttgttcaaggggaag
ttctatcgctgtacggatgaagccaaaagtaaccctgaagaatgcaggggacttttcatc
ctctacaaggatggggatgttgacagtcctgtggtccgtgaacggatctggcaaaacagt
gatttcaacttcgacaacgtcctctctgctatgatggcgctcttcacagtctccacgttt
gagggctggcctgcgttgctgtataaagccatcgactcgaatggagagaacatcggccca
atctacaaccaccgcgtggagatctccatcttcttcatcatctacatcatcattgtagct
ttcttcatgatgaacatctttgtgggctttgtcatcgttacatttcaggaacaaggagaa
aaagagtataagaactgtgagctggacaaaaatcagcgtcagtgtgttgaatacgccttg
aaagcacgtcccttgcggagatacatccccaaaaacccctaccagtacaagttctggtac
gtggtgaactcttcgcctttcgaatacatgatgtttgtcctcatcatgctcaacacactc
tgcttggccatgcagcactacgagcagtccaagatgttcaatgatgccatggacattctg
aacatggtcttcaccggggtgttcaccgtcgagatggttttgaaagtcatcgcatttaag
cctaaggggtattttagtgacgcctggaacacgtttgactccctcatcgtaatcggcagc
attatagacgtggccctcagcgaagcagacccaactgaaagtgaaaatgtccctgtccca
actgctacacctgggaactctgaagagagcaatagaatctccatcacctttttccgtctt
ttccgagtgatgcgattggtgaagcttctcagcaggggggaaggcatccggacattgctg
tggacttttattaagtcctttcaggcgctcccgtatgtggccctcctcatagccatgctg
ttcttcatctatgcggtcattggcatgcagatgtttgggaaagttgccatgagagataac
aaccagatcaataggaacaataacttccagacgtttccccaggcggtgctgctgctcttc
aggtgtgcaacaggtgaggcctggcaggagatcatgctggcctgtctcccagggaagctc
tgtgaccctgagtcagattacaaccccggggaggagtatacatgtgggagcaactttgcc
attgtctatttcatcagtttttacatgctctgtgcatttctgatcatcaatctgtttgtg
gctgtcatcatggataatttcgactatctgacccgggactggtctattttggggcctcac
catttagatgaattcaaaagaatatggtcagaatatgaccctgaggcaaagggaaggata
aaacaccttgatgtggtcactctgcttcgacgcatccagcctcccctggggtttgggaag
ttatgtccacacagggtagcgtgcaagagattagttgccatgaacatgcctctcaacagt
gacgggacagtcatgtttaatgcaaccctgtttgctttggttcgaacggctcttaagatc
aagaccgaagggaacctggagcaagctaatgaagaacttcgggctgtgataaagaaaatt
tggaagaaaaccagcatgaaattacttgaccaagttgtccctccagctggtgatgatgag
gtaaccgtggggaagttctatgccactttcctgatacaggactactttaggaaattcaag
aaacggaaagaacaaggactggtgggaaagtaccctgcgaagaacaccacaattgcccta
caggcgggattaaggacactgcatgacattgggccagaaatccggcgtgctatatcgtgt
gatttgcaagatgacgagcctgaggaaacaaaacgagaagaagaagatgatgtgttcaaa
agaaatggtgccctgcttggaaaccatgtcaatcatgttaatagtgataggagagattcc
cttcagcagaccaataccacccaccgtcccctgcatgtccaaaggccttcaattccacct
gcaagtgatactgagaaaccgctgtttcctccagcaggaaattcggtgtgtcataaccat
cataaccataattccataggaaagcaagttcccacctcaacaaatgccaatctcaataat
gccaatatgtccaaagctgcccatggaaagcggcccagcattgggaaccttgagcatgtg
tctgaaaatgggcatcattcttcccacaagcatgaccgggagcctcagagaaggtccagt
gtgaaaagaacccgctattatgaaacttacattaggtccgactcaggagatgaacagctc
ccaactatttgccgggaagacccagagatacatggctatttcagggacccccactgcttg
ggggagcaggagtatttcagtagtgaggaatgctacgaggatgacagctcgcccacctgg
agcaggcaaaactatggctactacagcagatacccaggcagaaacatcgactctgagagg
ccccgaggctaccatcatccccaaggattcttggaggacgatgactcgcccgtttgctat
gattcacggagatctccaaggagacgcctactacctcccaccccagcatcccaccggaga
tcctccttcaactttgagtgcctgcgccggcagagcagccaggaagaggtcccgtcgtct
cccatcttcccccatcgcacggccctgcctctgcatctaatgcagcaacagatcatggca
gttgccggcctagattcaagtaaagcccagaagtactcaccgagtcactcgacccggtcg
tgggccacccctccagcaacccctccctaccgggactggacaccgtgctacacccccctg
atccaagtggagcagtcagaggccctggaccaggtgaacggcagcctgccgtccctgcac
cgcagctcctggtacacagacgagcccgacatctcctaccggactttcacaccagccagc
ctgactgtccccagcagcttccggaacaaaaacagcgacaagcagaggagtgcggacagc
ttggtggaggcagtcctgatatccgaaggcttgggacgctatgcaagggacccaaaattt
gtgtcagcaacaaaacacgaaatcgctgatgcctgtgacctcaccatcgacgagatggag
agtgcagccagcaccctgcttaatgggaacgtgcgtccccgagccaacggggatgtgggc
cccctctcacaccggcaggactatgagctacaggactttggtcctggctacagcgacgaa
gagccagaccctgggagggatgaggaggacctggcggatgaaatgatatgcatcaccacc
ttgtag

KEGG   Homo sapiens (human): 778
Entry
778               CDS       T01001                                 

Gene name
CACNA1F, AIED, COD3, COD4, CORDX, CORDX3, CSNB2, CSNB2A, CSNBX2, Cav1.4, Cav1.4alpha1, JM8, JMC8, OA2
Definition
(RefSeq) calcium voltage-gated channel subunit alpha1 F
  KO
K04853  voltage-dependent calcium channel L type alpha-1F
Organism
hsa  Homo sapiens (human)
Pathway
hsa04010  MAPK signaling pathway
hsa04020  Calcium signaling pathway
hsa04022  cGMP-PKG signaling pathway
hsa04024  cAMP signaling pathway
hsa04260  Cardiac muscle contraction
hsa04261  Adrenergic signaling in cardiomyocytes
hsa04270  Vascular smooth muscle contraction
hsa04723  Retrograde endocannabinoid signaling
hsa04725  Cholinergic synapse
hsa04726  Serotonergic synapse
hsa04727  GABAergic synapse
hsa04911  Insulin secretion
hsa04912  GnRH signaling pathway
hsa04921  Oxytocin signaling pathway
hsa04924  Renin secretion
hsa04925  Aldosterone synthesis and secretion
hsa04927  Cortisol synthesis and secretion
hsa04929  GnRH secretion
hsa04934  Cushing syndrome
hsa04935  Growth hormone synthesis, secretion and action
hsa05010  Alzheimer disease
hsa05020  Prion disease
hsa05022  Pathways of neurodegeneration - multiple diseases
hsa05207  Chemical carcinogenesis - receptor activation
hsa05410  Hypertrophic cardiomyopathy
hsa05412  Arrhythmogenic right ventricular cardiomyopathy
hsa05414  Dilated cardiomyopathy
Network
nt06410  Calcium signaling
nt06460  Alzheimer disease
nt06461  Huntington disease
nt06462  Spinocerebellar ataxia
nt06463  Parkinson disease
nt06465  Prion disease
  Element
N00967  VGCC-Ca2+ -apoptotic pathway
N01004  Mutation-caused aberrant Abeta to VGCC-Ca2+ -apoptotic pathway
N01201  Scrapie conformation PrPSc to VGCC-Ca2+ -apoptotic pathway
Disease
H00481  Cone-rod dystrophy and cone dystrophy
H00690  Aland Island eye disease
H00787  Congenital stationary night blindness
Drug target
Amlodipine (DG00322): D00615<JP/US> D02914 D07450 D11881<US>
Aranidipine: D01562<JP>
Azelnidipine: D01145<JP>
Barnidipine (DG00325): D01104<JP> D07494
Belfosdil: D03067
Benidipine (DG00327): D02045<JP> D07509
Bepridil (DG00333): D00631<JP> D07520
Bevantolol: D01369<JP>
Cilnidipine: D01173<JP>
Clentiazem maleate: D03536
Clevidipine: D08892<US>
Darodipine: D03655
Diltiazem (DG00331): D00616<JP/US> D03830 D07845
Dronedarone (DG00207): D02537 D03914<US>
Efonidipine (DG01382): D01604<JP> D07886
Etripamil: D10932
Felodipine: D00319<JP/US>
Fendiline (DG00332): D07185 D07943
Flordipine: D04193
Fostedil: D04260
Gallopamil (DG00330): D01969 D08009
Isradipine: D00349<US>
Kirenidipine hydrochloride: D09789
Lacidipine: D04657
Lemildipine: D01151
Lercanidipine (DG00326): D01849 D08111
Levamlodipine (DG03091): D08941 D11723<US>
Levosemotiadil fumarate: D09833
Manidipine (DG00324): D01553<JP> D08155
Mibefradil (DG00328): D05024 D08217
Monatepil maleate: D01171
Nicardipine (DG00323): D00617<JP/US> D08270
Nifedipine: D00437<JP/US>
Nilvadipine: D01908<JP>
Nimodipine: D00438<US>
Nisoldipine: D00618<US>
Nitrendipine: D00629<JP>
Paramethadione: D00495
Perhexiline (DG00334): D05442 D08340
Propiverine (DG00479): D01007<JP> D08441
Tamolarizine hydrochloride: D11102
Tiapamil hydrochloride: D06129
Topiramate: D00537<JP/US>
Vatanidipine hydrochloride: D01933
Verapamil (DG00329): D00619<JP/US> D02356
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04010 MAPK signaling pathway
    778 (CACNA1F)
   04020 Calcium signaling pathway
    778 (CACNA1F)
   04024 cAMP signaling pathway
    778 (CACNA1F)
   04022 cGMP-PKG signaling pathway
    778 (CACNA1F)
 09150 Organismal Systems
  09152 Endocrine system
   04911 Insulin secretion
    778 (CACNA1F)
   04929 GnRH secretion
    778 (CACNA1F)
   04912 GnRH signaling pathway
    778 (CACNA1F)
   04921 Oxytocin signaling pathway
    778 (CACNA1F)
   04935 Growth hormone synthesis, secretion and action
    778 (CACNA1F)
   04924 Renin secretion
    778 (CACNA1F)
   04925 Aldosterone synthesis and secretion
    778 (CACNA1F)
   04927 Cortisol synthesis and secretion
    778 (CACNA1F)
  09153 Circulatory system
   04260 Cardiac muscle contraction
    778 (CACNA1F)
   04261 Adrenergic signaling in cardiomyocytes
    778 (CACNA1F)
   04270 Vascular smooth muscle contraction
    778 (CACNA1F)
  09156 Nervous system
   04727 GABAergic synapse
    778 (CACNA1F)
   04725 Cholinergic synapse
    778 (CACNA1F)
   04726 Serotonergic synapse
    778 (CACNA1F)
   04723 Retrograde endocannabinoid signaling
    778 (CACNA1F)
 09160 Human Diseases
  09161 Cancer: overview
   05207 Chemical carcinogenesis - receptor activation
    778 (CACNA1F)
  09164 Neurodegenerative disease
   05010 Alzheimer disease
    778 (CACNA1F)
   05020 Prion disease
    778 (CACNA1F)
   05022 Pathways of neurodegeneration - multiple diseases
    778 (CACNA1F)
  09166 Cardiovascular disease
   05410 Hypertrophic cardiomyopathy
    778 (CACNA1F)
   05412 Arrhythmogenic right ventricular cardiomyopathy
    778 (CACNA1F)
   05414 Dilated cardiomyopathy
    778 (CACNA1F)
  09167 Endocrine and metabolic disease
   04934 Cushing syndrome
    778 (CACNA1F)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04040 Ion channels [BR:hsa04040]
    778 (CACNA1F)
Ion channels [BR:hsa04040]
 Voltage-gated cation channels
  Calcium channel, voltage-gated (Cav)
   778 (CACNA1F)
SSDB
Motif
Pfam: Ion_trans CAC1F_C Ca_chan_IQ GPHH PKD_channel HemY_N
Other DBs
NCBI-GeneID: 778
NCBI-ProteinID: NP_005174
OMIM: 300110
HGNC: 1393
Ensembl: ENSG00000102001
Vega: OTTHUMG00000022703
Pharos: O60840(Tchem)
UniProt: O60840
LinkDB
Position
Xp11.23
AA seq 1977 aa
MSESEGGKDTTPEPSPANGAGPGPEWGLCPGPPAVEGESSGASGLGTPKRRNQHSKHKTV
AVASAQRSPRALFCLTLANPLRRSCISIVEWKPFDILILLTIFANCVALGVYIPFPEDDS
NTANHNLEQVEYVFLVIFTVETVLKIVAYGLVLHPSAYIRNGWNLLDFIIVVVGLFSVLL
EQGPGRPGDAPHTGGKPGGFDVKALRAFRVLRPLRLVSGVPSLHIVLNSIMKALVPLLHI
ALLVLFVIIIYAIIGLELFLGRMHKTCYFLGSDMEAEEDPSPCASSGSGRACTLNQTECR
GRWPGPNGGITNFDNFFFAMLTVFQCVTMEGWTDVLYWMQDAMGYELPWVYFVSLVIFGS
FFVLNLVLGVLSGEFSKEREKAKARGDFQKQREKQQMEEDLRGYLDWITQAEELDMEDPS
ADDNLGSMAEEGRAGHRPQLAELTNRRRGRLRWFSHSTRSTHSTSSHASLPASDTGSMTE
TQGDEDEEEGALASCTRCLNKIMKTRVCRRLRRANRVLRARCRRAVKSNACYWAVLLLVF
LNTLTIASEHHGQPVWLTQIQEYANKVLLCLFTVEMLLKLYGLGPSAYVSSFFNRFDCFV
VCGGILETTLVEVGAMQPLGISVLRCVRLLRIFKVTRHWASLSNLVASLLNSMKSIASLL
LLLFLFIIIFSLLGMQLFGGKFNFDQTHTKRSTFDTFPQALLTVFQILTGEDWNVVMYDG
IMAYGGPFFPGMLVCIYFIILFICGNYILLNVFLAIAVDNLASGDAGTAKDKGGEKSNEK
DLPQENEGLVPGVEKEEEEGARREGADMEEEEEEEEEEEEEEEEEGAGGVELLQEVVPKE
KVVPIPEGSAFFCLSQTNPLRKGCHTLIHHHVFTNLILVFIILSSVSLAAEDPIRAHSFR
NHILGYFDYAFTSIFTVEILLKMTVFGAFLHRGSFCRSWFNMLDLLVVSVSLISFGIHSS
AISVVKILRVLRVLRPLRAINRAKGLKHVVQCVFVAIRTIGNIMIVTTLLQFMFACIGVQ
LFKGKFYTCTDEAKHTPQECKGSFLVYPDGDVSRPLVRERLWVNSDFNFDNVLSAMMALF
TVSTFEGWPALLYKAIDAYAEDHGPIYNYRVEISVFFIVYIIIIAFFMMNIFVGFVIITF
RAQGEQEYQNCELDKNQRQCVEYALKAQPLRRYIPKNPHQYRVWATVNSAAFEYLMFLLI
LLNTVALAMQHYEQTAPFNYAMDILNMVFTGLFTIEMVLKIIAFKPKHYFTDAWNTFDAL
IVVGSIVDIAVTEVNNGGHLGESSEDSSRISITFFRLFRVMRLVKLLSKGEGIRTLLWTF
IKSFQALPYVALLIAMIFFIYAVIGMQMFGKVALQDGTQINRNNNFQTFPQAVLLLFRCA
TGEAWQEIMLASLPGNRCDPESDFGPGEEFTCGSNFAIAYFISFFMLCAFLIINLFVAVI
MDNFDYLTRDWSILGPHHLDEFKRIWSEYDPGAKGRIKHLDVVALLRRIQPPLGFGKLCP
HRVACKRLVAMNMPLNSDGTVTFNATLFALVRTSLKIKTEGNLEQANQELRIVIKKIWKR
MKQKLLDEVIPPPDEEEVTVGKFYATFLIQDYFRKFRRRKEKGLLGNDAAPSTSSALQAG
LRSLQDLGPEMRQALTCDTEEEEEEGQEGVEEEDEKDLETNKATMVSQPSARRGSGISVS
LPVGDRLPDSLSFGPSDDDRGTPTSSQPSVPQAGSNTHRRGSGALIFTIPEEGNSQPKGT
KGQNKQDEDEEVPDRLSYLDEQAGTPPCSVLLPPHRAQRYMDGHLVPRRRLLPPTPAGRK
PSFTIQCLQRQGSCEDLPIPGTYHRGRNSGPNRAQGSWATPPQRGRLLYAPLLLVEEGAA
GEGYLGRSSGPLRTFTCLHVPGTHSDPSHGKRGSADSLVEAVLISEGLGLFARDPRFVAL
AKQEIADACRLTLDEMDNAASDLLAQGTSSLYSDEESILSRFDEEDLGDEMACVHAL
NT seq 5934 nt   +upstreamnt  +downstreamnt
atgtcggaatctgaaggcgggaaagacaccaccccagagcccagtccagccaatggggca
ggccctggtcccgaatgggggctgtgccccgggcccccagctgtggaaggtgaaagcagt
ggggcatcaggcctagggacccctaagcgaagaaaccagcacagcaagcacaagacagtg
gcagtggccagtgcccagcggtcacctcgggcactcttctgcctcaccctggccaatcct
ctgcgacggtcctgcatcagcatcgtggagtggaagcccttcgacatcctcatcctgctg
accatctttgccaactgcgtggccctgggagtttacatccccttccctgaggacgactcc
aacactgccaaccacaacctggagcaggtggagtacgtattcctggtgattttcactgtg
gagacggtgctcaagatcgtggcctacgggctggtgctccaccccagcgcctacatccgc
aatggctggaacctactcgacttcatcatcgtcgtggtcgggctgttcagcgttctgctg
gagcagggccccggacggccaggcgacgccccgcacaccgggggaaagccaggaggcttc
gatgtgaaggcattgagggcgtttcgggtgctgcggccactgaggctggtgtctggggtc
ccgagcctgcacatagtgctcaattccatcatgaaggctctggtgccgctgctgcacatt
gcactgctcgtgctcttcgtcatcatcatttatgccatcattgggctcgagctgttcctt
ggacgaatgcacaagacgtgctacttcctgggatccgacatggaagcggaggaggaccca
tcgccctgtgcgtcttcgggatcagggcgtgcgtgcacgctgaaccagactgagtgccgc
gggcgctggccagggcccaatggaggcatcaccaactttgacaacttcttcttcgccatg
ctgacagtcttccagtgtgtcaccatggaaggctggaccgatgtgctctactggatgcaa
gatgccatggggtatgaactgccctgggtgtactttgtgagccttgtcatctttgggtcc
ttcttcgtcctcaaccttgtgcttggcgtcctgagtggggagttctccaaggagagagag
aaagcgaaagctcgcggggacttccagaagcagcgggagaagcagcagatggaggaagac
ctgcggggctacctggactggatcactcaagccgaagagctggacatggaggacccctcc
gccgatgacaaccttggttctatggctgaagagggccgggcgggccatcggccacagctg
gccgagctgaccaataggaggcgtggacgtctgcgctggttcagtcattctactcgctcc
acacactccaccagcagccatgccagcctcccagccagtgacaccggttccatgacagag
acccaaggcgatgaggatgaggaggagggggctctggccagctgtacacgctgcctaaac
aagatcatgaaaaccagagtctgccgccgcctccgccgagccaaccgggtccttcgggca
cgctgccgtcgggcagtgaagtccaatgcctgctactgggctgtgctgttgctcgtcttc
ctcaacacgttgaccatcgcctctgagcaccacgggcagcctgtgtggctcacccagatc
caggagtatgccaacaaagtgttgctctgtctgttcacggtggagatgcttctcaaattg
tacggtctgggcccctctgcctatgtgtcttccttcttcaaccgctttgactgctttgtg
gtctgtgggggcatcctagagaccaccttggtggaggtgggtgccatgcagcccttgggc
atctcagtgctccgatgtgtgcgcctcctcaggatctttaaggtcaccagacactgggct
tctctgagcaatctggtggcatccctgctcaattcaatgaaatccatcgcatccttgctg
cttctcctcttcctcttcatcattatcttctccctgcttggcatgcagctgtttgggggc
aagttcaactttgaccagacccacaccaagcgaagcacctttgacacgttcccccaggcc
ctcctcactgtctttcagatcctgacaggtgaggactggaacgtggtcatgtatgatggt
atcatggcatatggtggccccttcttcccaggaatgttggtgtgcatctatttcatcatt
ctcttcatctgtggcaactacatcctgttgaacgtgtttcttgccattgctgtggacaac
ctggccagtggagatgcaggcactgccaaggacaagggcggggagaagagcaatgagaag
gatctcccacaggagaatgaaggcctggtgcctggtgtggagaaagaggaagaggagggt
gcaaggagggaaggagcagacatggaggaggaggaggaggaggaagaagaggaagaagag
gaagaagaggaagagggtgcagggggtgtggaactcctgcaggaagttgtacccaaggag
aaggtggtacccatccctgagggcagcgccttcttctgcctcagccaaaccaacccgctg
aggaagggctgccacaccctcatccaccatcatgtcttcaccaatcttatcctggtgttc
atcatcctcagcagtgtgtccctggccgctgaggaccccatccgagcccactccttccgc
aaccatattctgggttacttcgattatgccttcacctccattttcactgtggagattcta
ctaaagatgacagtgtttggggccttcctgcaccgcggctccttctgccgtagctggttt
aatatgttggatctgctggtggtcagtgtgtccctcatctcctttggcatccactccagc
gccatctcggtggtgaagattctgcgagtactccgagtactgcggcccctccgagccatc
aacagggccaagggactcaagcatgtggtgcagtgtgtatttgtggccatccggaccatc
ggaaacatcatgattgtcaccacacttctgcaatttatgttcgcctgcatcggggtgcag
ctcttcaaggggaaattctacacctgcacggacgaggccaaacacacccctcaagaatgc
aagggctccttcctggtatacccagatggagacgtgtcacggcccctggtccgggagcgg
ctctgggtcaacagtgatttcaactttgacaatgtcctttcagccatgatggccctgttc
actgtctccacctttgaaggctggcctgcactgctatacaaggccatcgatgcatatgca
gaggaccacggccccatctataattaccgtgtggagatctcagtgttcttcattgtctac
atcatcatcattgcgttcttcatgatgaacatcttcgtgggcttcgtcatcatcactttc
cgtgcccagggcgagcaggagtaccaaaactgtgagctggacaagaaccagcgtcaatgt
gtggaatatgccctcaaggcccagccactccgccgttacatccccaagaacccgcatcag
tatcgtgtgtgggccactgtgaactctgctgcctttgagtacctgatgttcctgctcatc
ctgctcaacacagttgccctagccatgcagcactatgagcagactgctcccttcaactat
gccatggacatcctcaacatggtcttcactggcctcttcactattgagatggtgctcaaa
atcatcgccttcaagcccaagcattacttcactgatgcctggaacacgtttgacgctctt
attgtggtgggcagcatagtggatattgccgtcactgaagtcaataatggtggccacctt
ggcgagagctctgaggacagctcccgcatttccattaccttctttcgcctcttccgagtt
atgcggctggtcaagcttctcagtaagggtgaagggatccgcacattgctctggacattc
atcaagtccttccaggccttgccctatgtggctcttctcatcgcaatgatattcttcatc
tatgccgtcattggcatgcagatgttcggcaaggtggctcttcaggatggcacacagata
aaccgaaacaacaacttccagacctttccacaggctgtgctgcttctgttcaggtgtgcc
actggtgaggcatggcaggagataatgcttgccagccttcccggaaatcggtgtgatcct
gagtctgacttcggccctggtgaagagtttacctgtggtagcaattttgccatcgcctat
ttcatcagcttcttcatgctctgtgccttcctgatcataaatctctttgtggctgtgatc
atggacaactttgattatctcaccagagattggtccatcctgggcccccatcaccttgat
gaattcaagaggatctggtctgaatatgaccctggggccaagggccgcatcaaacacttg
gatgtggttgccctgctgagacgtatccagccccctctgggatttgggaagctgtgccca
caccgagtggcctgcaagagacttgtggcaatgaacatgcccctcaactcagatgggacg
gtgacattcaacgccacactctttgccctggtccggacatccctgaagatcaaaacagaa
gggaacctggagcaagccaaccaggagctgcggattgtcatcaaaaagatctggaagcgg
atgaaacagaagctgctagatgaggtcatccccccaccagacgaggaggaggtcaccgtg
ggcaaattctacgccacatttctgatccaggactatttccgcaaattccggcggaggaaa
gaaaaagggctactaggcaacgacgccgcccctagcacctcttccgcccttcaggctggt
ctgcggagcctgcaggacttgggtcctgagatgcggcaggccctcacctgtgacacagag
gaggaggaagaagaggggcaggagggagtggaggaggaagatgaaaaggacttggaaact
aacaaagccacgatggtctcccagccctcagctcgccggggctccgggatttctgtgtct
ctgcctgtcggggacagacttccagattcactctcctttgggcccagtgatgatgacagg
gggactcccacctccagtcagcccagtgtgccccaggctggatccaacacccacaggaga
ggctctggggctctcattttcaccatcccagaagaaggaaattctcagcccaagggaacc
aaagggcaaaacaagcaagatgaggatgaggaagtccctgatcggctttcctacctagat
gagcaggcagggactcccccgtgctcagtccttttgccacctcacagagctcagagatac
atggatgggcacctggtaccacgccgccgtctgctgccccccacacctgcaggtcggaag
ccctccttcaccatccagtgtctgcagcgccagggcagttgtgaggatttacccatccca
ggcacctatcatcgtgggcgaaattcagggcccaatagggctcagggttcctgggcaaca
ccacctcagcggggtcggctcctgtatgccccgctgttgttggtggaagagggcgcagcg
ggggaggggtacctcggcagatccagtggcccactgcgcaccttcacctgtctgcacgtg
cctggaacccactcggaccccagccatgggaagaggggcagtgccgacagcttggtggag
gctgtgcttatctcagagggtctgggcctctttgctcgagacccacgtttcgtggccctg
gccaagcaggagattgcagatgcgtgtcgcctgacgctggatgagatggacaatgctgcc
agtgacctgctggcacagggaaccagctctctctatagcgacgaggagtccatcctctcc
cgcttcgatgaggaggacttgggagacgagatggcctgcgtccacgccctctga

KEGG   Homo sapiens (human): 773
Entry
773               CDS       T01001                                 

Gene name
CACNA1A, APCA, BI, CACNL1A4, CAV2.1, DEE42, EA2, EIEE42, FHM, HPCA, MHP, MHP1, SCA6
Definition
(RefSeq) calcium voltage-gated channel subunit alpha1 A
  KO
K04344  voltage-dependent calcium channel P/Q type alpha-1A
Organism
hsa  Homo sapiens (human)
Pathway
hsa04010  MAPK signaling pathway
hsa04020  Calcium signaling pathway
hsa04721  Synaptic vesicle cycle
hsa04723  Retrograde endocannabinoid signaling
hsa04724  Glutamatergic synapse
hsa04725  Cholinergic synapse
hsa04726  Serotonergic synapse
hsa04727  GABAergic synapse
hsa04728  Dopaminergic synapse
hsa04730  Long-term depression
hsa04742  Taste transduction
hsa04930  Type II diabetes mellitus
hsa05017  Spinocerebellar ataxia
hsa05032  Morphine addiction
hsa05033  Nicotine addiction
hsa05207  Chemical carcinogenesis - receptor activation
Network
nt06410  Calcium signaling
nt06460  Alzheimer disease
nt06461  Huntington disease
nt06462  Spinocerebellar ataxia
nt06463  Parkinson disease
nt06465  Prion disease
  Element
N00967  VGCC-Ca2+ -apoptotic pathway
N00968  Mutation-activated CACNA1A to VGCC-Ca2+ -apoptotic pathway
N00969  Mutation-inactivated CACNA1A to VGCC-Ca2- -apoptotic pathway
Disease
H00063  Spinocerebellar ataxia (SCA)
H00606  Early infantile epileptic encephalopathy
H00749  Episodic ataxias
H00775  Hemiplegic migraine
H01808  Hemiconvulsion-hemiplegia-epilepsy syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04010 MAPK signaling pathway
    773 (CACNA1A)
   04020 Calcium signaling pathway
    773 (CACNA1A)
 09150 Organismal Systems
  09156 Nervous system
   04724 Glutamatergic synapse
    773 (CACNA1A)
   04727 GABAergic synapse
    773 (CACNA1A)
   04725 Cholinergic synapse
    773 (CACNA1A)
   04728 Dopaminergic synapse
    773 (CACNA1A)
   04726 Serotonergic synapse
    773 (CACNA1A)
   04730 Long-term depression
    773 (CACNA1A)
   04723 Retrograde endocannabinoid signaling
    773 (CACNA1A)
   04721 Synaptic vesicle cycle
    773 (CACNA1A)
  09157 Sensory system
   04742 Taste transduction
    773 (CACNA1A)
 09160 Human Diseases
  09161 Cancer: overview
   05207 Chemical carcinogenesis - receptor activation
    773 (CACNA1A)
  09164 Neurodegenerative disease
   05017 Spinocerebellar ataxia
    773 (CACNA1A)
  09165 Substance dependence
   05032 Morphine addiction
    773 (CACNA1A)
   05033 Nicotine addiction
    773 (CACNA1A)
  09167 Endocrine and metabolic disease
   04930 Type II diabetes mellitus
    773 (CACNA1A)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04040 Ion channels [BR:hsa04040]
    773 (CACNA1A)
Ion channels [BR:hsa04040]
 Voltage-gated cation channels
  Calcium channel, voltage-gated (Cav)
   773 (CACNA1A)
SSDB
Motif
Pfam: Ion_trans Ca_chan_IQ GPHH PKD_channel
Other DBs
NCBI-GeneID: 773
NCBI-ProteinID: NP_001120694
OMIM: 601011
HGNC: 1388
Ensembl: ENSG00000141837
Vega: OTTHUMG00000044590
Pharos: O00555(Tchem)
UniProt: O00555
LinkDB
Structure
PDB: 
2LCM

Position
19p13.13
AA seq 2506 aa
MARFGDEMPARYGGGGSGAAAGVVVGSGGGRGAGGSRQGGQPGAQRMYKQSMAQRARTMA
LYNPIPVRQNCLTVNRSLFLFSEDNVVRKYAKKITEWPPFEYMILATIIANCIVLALEQH
LPDDDKTPMSERLDDTEPYFIGIFCFEAGIKIIALGFAFHKGSYLRNGWNVMDFVVVLTG
ILATVGTEFDLRTLRAVRVLRPLKLVSGIPSLQVVLKSIMKAMIPLLQIGLLLFFAILIF
AIIGLEFYMGKFHTTCFEEGTDDIQGESPAPCGTEEPARTCPNGTKCQPYWEGPNNGITQ
FDNILFAVLTVFQCITMEGWTDLLYNSNDASGNTWNWLYFIPLIIIGSFFMLNLVLGVLS
GEFAKERERVENRRAFLKLRRQQQIERELNGYMEWISKAEEVILAEDETDGEQRHPFDAL
RRTTIKKSKTDLLNPEEAEDQLADIASVGSPFARASIKSAKLENSTFFHKKERRMRFYIR
RMVKTQAFYWTVLSLVALNTLCVAIVHYNQPEWLSDFLYYAEFIFLGLFMSEMFIKMYGL
GTRPYFHSSFNCFDCGVIIGSIFEVIWAVIKPGTSFGISVLRALRLLRIFKVTKYWASLR
NLVVSLLNSMKSIISLLFLLFLFIVVFALLGMQLFGGQFNFDEGTPPTNFDTFPAAIMTV
FQILTGEDWNEVMYDGIKSQGGVQGGMVFSIYFIVLTLFGNYTLLNVFLAIAVDNLANAQ
ELTKDEQEEEEAANQKLALQKAKEVAEVSPLSAANMSIAVKEQQKNQKPAKSVWEQRTSE
MRKQNLLASREALYNEMDPDERWKAAYTRHLRPDMKTHLDRPLVVDPQENRNNNTNKSRA
AEPTVDQRLGQQRAEDFLRKQARYHDRARDPSGSAGLDARRPWAGSQEAELSREGPYGRE
SDHHAREGSLEQPGFWEGEAERGKAGDPHRRHVHRQGGSRESRSGSPRTGADGEHRRHRA
HRRPGEEGPEDKAERRARHREGSRPARGGEGEGEGPDGGERRRRHRHGAPATYEGDARRE
DKERRHRRRKENQGSGVPVSGPNLSTTRPIQQDLGRQDPPLAEDIDNMKNNKLATAESAA
PHGSLGHAGLPQSPAKMGNSTDPGPMLAIPAMATNPQNAASRRTPNNPGNPSNPGPPKTP
ENSLIVTNPSGTQTNSAKTARKPDHTTVDIPPACPPPLNHTVVQVNKNANPDPLPKKEEE
KKEEEEDDRGEDGPKPMPPYSSMFILSTTNPLRRLCHYILNLRYFEMCILMVIAMSSIAL
AAEDPVQPNAPRNNVLRYFDYVFTGVFTFEMVIKMIDLGLVLHQGAYFRDLWNILDFIVV
SGALVAFAFTGNSKGKDINTIKSLRVLRVLRPLKTIKRLPKLKAVFDCVVNSLKNVFNIL
IVYMLFMFIFAVVAVQLFKGKFFHCTDESKEFEKDCRGKYLLYEKNEVKARDREWKKYEF
HYDNVLWALLTLFTVSTGEGWPQVLKHSVDATFENQGPSPGYRMEMSIFYVVYFVVFPFF
FVNIFVALIIITFQEQGDKMMEEYSLEKNERACIDFAISAKPLTRHMPQNKQSFQYRMWQ
FVVSPPFEYTIMAMIALNTIVLMMKFYGASVAYENALRVFNIVFTSLFSLECVLKVMAFG
ILNYFRDAWNIFDFVTVLGSITDILVTEFGNNFINLSFLRLFRAARLIKLLRQGYTIRIL
LWTFVQSFKALPYVCLLIAMLFFIYAIIGMQVFGNIGIDVEDEDSDEDEFQITEHNNFRT
FFQALMLLFRSATGEAWHNIMLSCLSGKPCDKNSGILTRECGNEFAYFYFVSFIFLCSFL
MLNLFVAVIMDNFEYLTRDSSILGPHHLDEYVRVWAEYDPAAWGRMPYLDMYQMLRHMSP
PLGLGKKCPARVAYKRLLRMDLPVADDNTVHFNSTLMALIRTALDIKIAKGGADKQQMDA
ELRKEMMAIWPNLSQKTLDLLVTPHKSTDLTVGKIYAAMMIMEYYRQSKAKKLQAMREEQ
DRTPLMFQRMEPPSPTQEGGPGQNALPSTQLDPGGALMAHESGLKESPSWVTQRAQEMFQ
KTGTWSPEQGPPTDMPNSQPNSQSVEMREMGRDGYSDSEHYLPMEGQGRAASMPRLPAEN
QRRRGRPRGNNLSTISDTSPMKRSASVLGPKARRLDDYSLERVPPEENQRHHQRRRDRSH
RASERSLGRYTDVDTGLGTDLSMTTQSGDLPSKERDQERGRPKDRKHRQHHHHHHHHHHP
PPPDKDRYAQERPDHGRARARDQRWSRSPSEGREHMAHRQGSSSVSGSPAPSTSGTSTPR
RGRRQLPQTPSTPRPHVSYSPVIRKAGGSGPPQQQQQQQQQQQQQAVARPGRAATSGPRR
YPGPTAEPLAGDRPPTGGHSSGRSPRMERRVPGPARSESPRACRHGGARWPASGPHVSEG
PPGPRHHGYYRGSDYDEADGPGSGGGEEAMAGAYDAPPPVRHASSGATGRSPRTPRASGP
ACASPSRHGRRLPNGYYPAHGLARPRGPGSRKGLHEPYSESDDDWC
NT seq 7521 nt   +upstreamnt  +downstreamnt
atggcccgcttcggagacgagatgccggcccgctacgggggaggaggctccggggcagcc
gccggggtggtcgtgggcagcggaggcgggcgaggagccgggggcagccggcagggcggg
cagcccggggcgcaaaggatgtacaagcagtcaatggcgcagagagcgcggaccatggca
ctctacaaccccatccccgtccgacagaactgcctcacggttaaccggtctctcttcctc
ttcagcgaagacaacgtggtgagaaaatacgccaaaaagatcaccgaatggcctcccttt
gaatatatgattttagccaccatcatagcgaattgcatcgtcctcgcactggagcagcat
ctgcctgatgatgacaagaccccgatgtctgaacggctggatgacacagaaccatacttc
attggaattttttgtttcgaggctggaattaaaatcattgcccttgggtttgccttccac
aaaggctcctacttgaggaatggctggaatgtcatggactttgtggtggtgctaacgggc
atcttggcgacagttgggacggagtttgacctacggacgctgagggcagttcgagtgctg
cggccgctcaagctggtgtctggaatcccaagtttacaagtcgtcctgaagtcgatcatg
aaggcgatgatccctttgctgcagatcggcctcctcctattttttgcaatccttattttt
gcaatcatagggttagaattttatatgggaaaatttcataccacctgctttgaagagggg
acagatgacattcagggtgagtctccggctccatgtgggacagaagagcccgcccgcacc
tgccccaatgggaccaaatgtcagccctactgggaagggcccaacaacgggatcactcag
ttcgacaacatcctgtttgcagtgctgactgttttccagtgcataaccatggaagggtgg
actgatctcctctacaatagcaacgatgcctcagggaacacttggaactggttgtacttc
atccccctcatcatcatcggctccttttttatgctgaaccttgtgctgggtgtgctgtca
ggggagtttgccaaagaaagggaacgggtggagaaccggcgggcttttctgaagctgagg
cggcaacaacagattgaacgtgagctcaatgggtacatggagtggatctcaaaagcagaa
gaggtgatcctcgccgaggatgaaactgacggggagcagaggcatccctttgatgctctg
cggagaaccaccataaagaaaagcaagacagatttgctcaaccccgaagaggctgaggat
cagctggctgatatagcctctgtgggttctcccttcgcccgagccagcattaaaagtgcc
aagctggagaactcgaccttttttcacaaaaaggagaggaggatgcgtttctacatccgc
cgcatggtcaaaactcaggccttctactggactgtactcagtttggtagctctcaacacg
ctgtgtgttgctattgttcactacaaccagcccgagtggctctccgacttcctttactat
gcagaattcattttcttaggactctttatgtccgaaatgtttataaaaatgtacgggctt
gggacgcggccttacttccactcttccttcaactgctttgactgtggggttatcattggg
agcatcttcgaggtcatctgggctgtcataaaacctggcacatcctttggaatcagcgtg
ttacgagccctcaggttattgcgtattttcaaagtcacaaagtactgggcatctctcaga
aacctggtcgtctctctcctcaactccatgaagtccatcatcagcctgttgtttctcctt
ttcctgttcattgtcgtcttcgcccttttgggaatgcaactcttcggcggccagtttaat
ttcgatgaagggactcctcccaccaacttcgatacttttccagcagcaataatgacggtg
tttcagatcctgacgggcgaagactggaacgaggtcatgtacgacgggatcaagtctcag
gggggcgtgcagggcggcatggtgttctccatctatttcattgtactgacgctctttggg
aactacaccctcctgaatgtgttcttggccatcgctgtggacaatctggccaacgcccag
gagctcaccaaggacgagcaagaggaagaagaagcagcgaaccagaaacttgccctacag
aaagccaaggaggtggcagaagtgagtcctctgtccgcggccaacatgtctatagctgtg
aaagagcaacagaagaatcaaaagccagccaagtccgtgtgggagcagcggaccagtgag
atgcgaaagcagaacttgctggccagccgggaggccctgtataacgaaatggacccggac
gagcgctggaaggctgcctacacgcggcacctgcggccagacatgaagacgcacttggac
cggccgctggtggtggacccgcaggagaaccgcaacaacaacaccaacaagagccgggcg
gccgagcccaccgtggaccagcgcctcggccagcagcgcgccgaggacttcctcaggaaa
caggcccgctaccacgatcgggcccgggaccccagcggctcggcgggcctggacgcacgg
aggccctgggcgggaagccaggaggccgagctgagccgggagggaccctacggccgcgag
tcggaccaccacgcccgggagggcagcctggagcaacccgggttctgggagggcgaggcc
gagcgaggcaaggccggggacccccaccggaggcacgtgcaccggcaggggggcagcagg
gagagccgcagcgggtccccgcgcacgggcgcggacggggagcatcgacgtcatcgcgcg
caccgcaggcccggggaggagggtccggaggacaaggcggagcggagggcgcggcaccgc
gagggcagccggccggcccggggcggcgagggcgagggcgagggccccgacgggggcgag
cgcaggagaaggcaccggcatggcgctccagccacgtacgagggggacgcgcggagggag
gacaaggagcggaggcatcggaggaggaaagagaaccagggctccggggtccctgtgtcg
ggccccaacctgtcaaccacccggccaatccagcaggacctgggccgccaagacccaccc
ctggcagaggatattgacaacatgaagaacaacaagctggccaccgcggagtcggccgct
ccccacggcagccttggccacgccggcctgccccagagcccagccaagatgggaaacagc
accgaccccggccccatgctggccatccctgccatggccaccaacccccagaacgccgcc
agccgccggacgcccaacaacccggggaacccatccaatcccggcccccccaagaccccc
gagaatagccttatcgtcaccaaccccagcggcacccagaccaattcagctaagactgcc
aggaaacccgaccacaccacagtggacatccccccagcctgcccaccccccctcaaccac
accgtcgtacaagtgaacaaaaacgccaacccagacccactgccaaaaaaagaggaagag
aagaaggaggaggaggaagacgaccgtggggaagacggccctaagccaatgcctccctat
agctccatgttcatcctgtccacgaccaacccccttcgccgcctgtgccattacatcctg
aacctgcgctactttgagatgtgcatcctcatggtcattgccatgagcagcatcgccctg
gccgccgaggaccctgtgcagcccaacgcacctcggaacaacgtgctgcgatactttgac
tacgtttttacaggcgtctttacctttgagatggtgatcaagatgattgacctggggctc
gtcctgcatcagggtgcctacttccgtgacctctggaatattctcgacttcatagtggtc
agtggggccctggtagcctttgccttcactggcaatagcaaaggaaaagacatcaacacg
attaaatccctccgagtcctccgggtgctacgacctcttaaaaccatcaagcggctgcca
aagctcaaggctgtgtttgactgtgtggtgaactcacttaaaaacgtcttcaacatcctc
atcgtctacatgctattcatgttcatcttcgccgtggtggctgtgcagctcttcaagggg
aaattcttccactgcactgacgagtccaaagagtttgagaaagattgtcgaggcaaatac
ctcctctacgagaagaatgaggtgaaggcgcgagaccgggagtggaagaagtatgaattc
cattacgacaatgtgctgtgggctctgctgaccctcttcaccgtgtccacgggagaaggc
tggccacaggtcctcaagcattcggtggacgccacctttgagaaccagggccccagcccc
gggtaccgcatggagatgtccattttctacgtcgtctactttgtggtgttccccttcttc
tttgtcaatatctttgtggccttgatcatcatcaccttccaggagcaaggggacaagatg
atggaggaatacagcctggagaaaaatgagagggcctgcattgatttcgccatcagcgcc
aagccgctgacccgacacatgccgcagaacaagcagagcttccagtaccgcatgtggcag
ttcgtggtgtctccgcctttcgagtacacgatcatggccatgatcgccctcaacaccatc
gtgcttatgatgaagttctatggggcttctgttgcttatgaaaatgccctgcgggtgttc
aacatcgtcttcacctccctcttctctctggaatgtgtgctgaaagtcatggcttttggg
attctgaattatttccgcgatgcctggaacatcttcgactttgtgactgttctgggcagc
atcaccgatatcctcgtgactgagtttgggaataacttcatcaacctgagctttctccgc
ctcttccgagctgcccggctcatcaaacttctccgtcagggttacaccatccgcattctt
ctctggacctttgtgcagtccttcaaggccctgccttatgtctgtctgctgatcgccatg
ctcttcttcatctatgccatcattgggatgcaggtgtttggtaacattggcatcgacgtg
gaggacgaggacagtgatgaagatgagttccaaatcactgagcacaataacttccggacc
ttcttccaggccctcatgcttctcttccggagtgccaccggggaagcttggcacaacatc
atgctttcctgcctcagcgggaaaccgtgtgataagaactctggcatcctgactcgagag
tgtggcaatgaatttgcttatttttactttgtttccttcatcttcctctgctcgtttctg
atgctgaatctctttgtcgccgtcatcatggacaactttgagtacctcacccgagactcc
tccatcctgggcccccaccacctggatgagtacgtgcgtgtctgggccgagtatgacccc
gcagcttggggccgcatgccttacctggacatgtatcagatgctgagacacatgtctccg
cccctgggtctggggaagaagtgtccggccagagtggcttacaagcggcttctgcggatg
gacctgcccgtcgcagatgacaacaccgtccacttcaattccaccctcatggctctgatc
cgcacagccctggacatcaagattgccaagggaggagccgacaaacagcagatggacgct
gagctgcggaaggagatgatggcgatttggcccaatctgtcccagaagacgctagacctg
ctggtcacacctcacaagtccacggacctcaccgtggggaagatctacgcagccatgatg
atcatggagtactaccggcagagcaaggccaagaagctgcaggccatgcgcgaggagcag
gaccggacacccctcatgttccagcgcatggagcccccgtccccaacgcaggaaggggga
cctggccagaacgccctcccctccacccagctggacccaggaggagccctgatggctcac
gaaagcggcctcaaggagagcccgtcctgggtgacccagcgtgcccaggagatgttccag
aagacgggcacatggagtccggaacaaggcccccctaccgacatgcccaacagccagcct
aactctcagtccgtggagatgcgagagatgggcagagatggctactccgacagcgagcac
tacctccccatggaaggccagggccgggctgcctccatgccccgcctccctgcagagaac
cagaggagaaggggccggccacgtgggaataacctcagtaccatctcagacaccagcccc
atgaagcgttcagcctccgtgctgggccccaaggcccgacgcctggacgattactcgctg
gagcgggtcccgcccgaggagaaccagcggcaccaccagcggcgccgcgaccgcagccac
cgcgcctctgagcgctccctgggccgctacaccgatgtggacacaggcttggggacagac
ctgagcatgaccacccaatccggggacctgccgtcgaaggagcgggaccaggagcggggc
cggcccaaggatcggaagcatcgacagcaccaccaccaccaccaccaccaccaccatccc
ccgccccccgacaaggaccgctatgcccaggaacggccggaccacggccgggcacgggct
cgggaccagcgctggtcccgctcgcccagcgagggccgagagcacatggcgcaccggcag
ggcagtagttccgtaagtggaagcccagccccctcaacatctggtaccagcactccgcgg
cggggccgccgccagctcccccagaccccctccaccccccggccacacgtgtcctattcc
cctgtgatccgtaaggccggcggctcggggcccccgcagcagcagcagcagcagcagcag
cagcagcagcagcaggcggtggccaggccgggccgggcggccaccagcggccctcggagg
tacccaggccccacggccgagcctctggccggagatcggccgcccacggggggccacagc
agcggccgctcgcccaggatggagaggcgggtcccaggcccggcccggagcgagtccccc
agggcctgtcgacacggcggggcccggtggccggcatctggcccgcacgtgtccgagggg
cccccgggtccccggcaccatggctactaccggggctccgactacgacgaggccgatggc
ccgggcagcgggggcggcgaggaggccatggccggggcctacgacgcgccaccccccgta
cgacacgcgtcctcgggcgccaccgggcgctcgcccaggactccccgggcctcgggcccg
gcctgcgcctcgccttctcggcacggccggcgactccccaacggctactacccggcgcac
ggactggccaggccccgcgggccgggctccaggaagggcctgcacgaaccctacagcgag
agtgacgatgattggtgctaa

KEGG   Homo sapiens (human): 774
Entry
774               CDS       T01001                                 

Gene name
CACNA1B, BIII, CACNL1A5, CACNN, Cav2.2, DYT23, NEDNEH
Definition
(RefSeq) calcium voltage-gated channel subunit alpha1 B
  KO
K04849  voltage-dependent calcium channel N type alpha-1B
Organism
hsa  Homo sapiens (human)
Pathway
hsa04010  MAPK signaling pathway
hsa04020  Calcium signaling pathway
hsa04721  Synaptic vesicle cycle
hsa04723  Retrograde endocannabinoid signaling
hsa04725  Cholinergic synapse
hsa04726  Serotonergic synapse
hsa04727  GABAergic synapse
hsa04728  Dopaminergic synapse
hsa04930  Type II diabetes mellitus
hsa05016  Huntington disease
hsa05020  Prion disease
hsa05022  Pathways of neurodegeneration - multiple diseases
hsa05032  Morphine addiction
hsa05033  Nicotine addiction
hsa05207  Chemical carcinogenesis - receptor activation
Network
nt06410  Calcium signaling
nt06460  Alzheimer disease
nt06461  Huntington disease
nt06462  Spinocerebellar ataxia
nt06463  Parkinson disease
nt06465  Prion disease
  Element
N00967  VGCC-Ca2+ -apoptotic pathway
N00986  Mutation-caused aberrant Htt to VGCC-Ca2+ -apoptotic pathway
N01201  Scrapie conformation PrPSc to VGCC-Ca2+ -apoptotic pathway
Disease
H00831  Primary dystonia
Drug target
Cilnidipine: D01173<JP>
Ziconotide (DG00832): D06363 D08686<US>
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04010 MAPK signaling pathway
    774 (CACNA1B)
   04020 Calcium signaling pathway
    774 (CACNA1B)
 09150 Organismal Systems
  09156 Nervous system
   04727 GABAergic synapse
    774 (CACNA1B)
   04725 Cholinergic synapse
    774 (CACNA1B)
   04728 Dopaminergic synapse
    774 (CACNA1B)
   04726 Serotonergic synapse
    774 (CACNA1B)
   04723 Retrograde endocannabinoid signaling
    774 (CACNA1B)
   04721 Synaptic vesicle cycle
    774 (CACNA1B)
 09160 Human Diseases
  09161 Cancer: overview
   05207 Chemical carcinogenesis - receptor activation
    774 (CACNA1B)
  09164 Neurodegenerative disease
   05016 Huntington disease
    774 (CACNA1B)
   05020 Prion disease
    774 (CACNA1B)
   05022 Pathways of neurodegeneration - multiple diseases
    774 (CACNA1B)
  09165 Substance dependence
   05032 Morphine addiction
    774 (CACNA1B)
   05033 Nicotine addiction
    774 (CACNA1B)
  09167 Endocrine and metabolic disease
   04930 Type II diabetes mellitus
    774 (CACNA1B)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04040 Ion channels [BR:hsa04040]
    774 (CACNA1B)
Ion channels [BR:hsa04040]
 Voltage-gated cation channels
  Calcium channel, voltage-gated (Cav)
   774 (CACNA1B)
SSDB
Motif
Pfam: Ion_trans Ca_chan_IQ GPHH PKD_channel
Other DBs
NCBI-GeneID: 774
NCBI-ProteinID: NP_000709
OMIM: 601012
HGNC: 1389
Ensembl: ENSG00000148408
Vega: OTTHUMG00000021002
Pharos: Q00975(Tclin)
UniProt: Q00975
LinkDB
Structure
PDB: 
2LCM

Position
9q34.3
AA seq 2339 aa
MVRFGDELGGRYGGPGGGERARGGGAGGAGGPGPGGLQPGQRVLYKQSIAQRARTMALYN
PIPVKQNCFTVNRSLFVFSEDNVVRKYAKRITEWPPFEYMILATIIANCIVLALEQHLPD
GDKTPMSERLDDTEPYFIGIFCFEAGIKIIALGFVFHKGSYLRNGWNVMDFVVVLTGILA
TAGTDFDLRTLRAVRVLRPLKLVSGIPSLQVVLKSIMKAMVPLLQIGLLLFFAILMFAII
GLEFYMGKFHKACFPNSTDAEPVGDFPCGKEAPARLCEGDTECREYWPGPNFGITNFDNI
LFAILTVFQCITMEGWTDILYNTNDAAGNTWNWLYFIPLIIIGSFFMLNLVLGVLSGEFA
KERERVENRRAFLKLRRQQQIERELNGYLEWIFKAEEVMLAEEDRNAEEKSPLDVLKRAA
TKKSRNDLIHAEEGEDRFADLCAVGSPFARASLKSGKTESSSYFRRKEKMFRFFIRRMVK
AQSFYWVVLCVVALNTLCVAMVHYNQPRRLTTTLYFAEFVFLGLFLTEMSLKMYGLGPRS
YFRSSFNCFDFGVIVGSVFEVVWAAIKPGSSFGISVLRALRLLRIFKVTKYWSSLRNLVV
SLLNSMKSIISLLFLLFLFIVVFALLGMQLFGGQFNFQDETPTTNFDTFPAAILTVFQIL
TGEDWNAVMYHGIESQGGVSKGMFSSFYFIVLTLFGNYTLLNVFLAIAVDNLANAQELTK
DEEEMEEAANQKLALQKAKEVAEVSPMSAANISIAARQQNSAKARSVWEQRASQLRLQNL
RASCEALYSEMDPEERLRFATTRHLRPDMKTHLDRPLVVELGRDGARGPVGGKARPEAAE
APEGVDPPRRHHRHRDKDKTPAAGDQDRAEAPKAESGEPGAREERPRPHRSHSKEAAGPP
EARSERGRGPGPEGGRRHHRRGSPEEAAEREPRRHRAHRHQDPSKECAGAKGERRARHRG
GPRAGPREAESGEEPARRHRARHKAQPAHEAVEKETTEKEATEKEAEIVEADKEKELRNH
QPREPHCDLETSGTVTVGPMHTLPSTCLQKVEEQPEDADNQRNVTRMGSQPPDPNTIVHI
PVMLTGPLGEATVVPSGNVDLESQAEGKKEVEADDVMRSGPRPIVPYSSMFCLSPTNLLR
RFCHYIVTMRYFEVVILVVIALSSIALAAEDPVRTDSPRNNALKYLDYIFTGVFTFEMVI
KMIDLGLLLHPGAYFRDLWNILDFIVVSGALVAFAFSGSKGKDINTIKSLRVLRVLRPLK
TIKRLPKLKAVFDCVVNSLKNVLNILIVYMLFMFIFAVIAVQLFKGKFFYCTDESKELER
DCRGQYLDYEKEEVEAQPRQWKKYDFHYDNVLWALLTLFTVSTGEGWPMVLKHSVDATYE
EQGPSPGYRMELSIFYVVYFVVFPFFFVNIFVALIIITFQEQGDKVMSECSLEKNERACI
DFAISAKPLTRYMPQNRQSFQYKTWTFVVSPPFEYFIMAMIALNTVVLMMKFYDAPYEYE
LMLKCLNIVFTSMFSMECVLKIIAFGVLNYFRDAWNVFDFVTVLGSITDILVTEIAETNN
FINLSFLRLFRAARLIKLLRQGYTIRILLWTFVQSFKALPYVCLLIAMLFFIYAIIGMQV
FGNIALDDDTSINRHNNFRTFLQALMLLFRSATGEAWHEIMLSCLSNQACDEQANATECG
SDFAYFYFVSFIFLCSFLMLNLFVAVIMDNFEYLTRDSSILGPHHLDEFIRVWAEYDPAA
CGRISYNDMFEMLKHMSPPLGLGKKCPARVAYKRLVRMNMPISNEDMTVHFTSTLMALIR
TALEIKLAPAGTKQHQCDAELRKEISVVWANLPQKTLDLLVPPHKPDEMTVGKVYAALMI
FDFYKQNKTTRDQMQQAPGGLSQMGPVSLFHPLKATLEQTQPAVLRGARVFLRQKSSTSL
SNGGAIQNQESGIKESVSWGTQRTQDAPHEARPPLERGHSTEIPVGRSGALAVDVQMQSI
TRRGPDGEPQPGLESQGRAASMPRLAAETQPVTDASPMKRSISTLAQRPRGTHLCSTTPD
RPPPSQASSHHHHHRCHRRRDRKQRSLEKGPSLSADMDGAPSSAVGPGLPPGEGPTGCRR
ERERRQERGRSQERRQPSSSSSEKQRFYSCDRFGGREPPKPKPSLSSHPTSPTAGQEPGP
HPQGSGSVNGSPLLSTSGASTPGRGGRRQLPQTPLTPRPSITYKTANSSPIHFAGAQTSL
PAFSPGRLSRGLSEHNALLQRDPLSQPLAPGSRIGSDPYLGQRLDSEASVHALPEDTLTF
EEAVATNSGRSSRTSYVSSLTSQSHPLRRVPNGYHCTLGLSSGGRARHSYHHPDQDHWC
NT seq 7020 nt   +upstreamnt  +downstreamnt
atggtccgcttcggggacgagctgggcggccgctatgggggccccggcggcggagagcgg
gcccggggcggcggggccggcggggcggggggcccgggtcccggggggctgcagcccggc
cagcgggtcctctacaagcaatcgatcgcgcagcgcgcgcggaccatggcgctgtacaac
cccatcccggtcaagcagaactgcttcaccgtcaaccgctcgctcttcgtcttcagcgag
gacaacgtcgtccgcaaatacgcgaagcgcatcaccgagtggcctccattcgagtatatg
atcctggccaccatcatcgccaactgcatcgtgctggccctggagcagcacctccctgat
ggggacaaaacgcccatgtccgagcggctggacgacacggagccctatttcatcgggatc
ttttgcttcgaggcagggatcaaaatcatcgctctgggctttgtcttccacaagggctct
tacctgcggaacggctggaacgtcatggacttcgtggtcgtcctcacagggatccttgcc
acggctggaactgacttcgacctgcgaacactgagggctgtgcgtgtgctgaggcccctg
aagctggtgtctgggattccaagtttgcaggtggtgctcaagtccatcatgaaggccatg
gttccactcctgcagattgggctgcttctcttctttgccatcctcatgtttgccatcatt
ggcctggagttctacatgggcaagttccacaaggcctgtttccccaacagcacagatgcg
gagcccgtgggtgacttcccctgtggcaaggaggccccagcccggctgtgcgagggcgac
actgagtgccgggagtactggccaggacccaactttggcatcaccaactttgacaatatc
ctgtttgccatcttgacggtgttccagtgcatcaccatggagggctggactgacatcctc
tataatacaaacgatgcggccggcaacacctggaactggctctacttcatccctctcatc
atcatcggctccttcttcatgctcaacctggtgctgggcgtgctctcgggggagtttgcc
aaggagcgagagagggtggagaaccgccgcgccttcctgaagctgcgccggcagcagcag
atcgagcgagagctcaacgggtacctggagtggatcttcaaggcggaggaagtcatgctg
gccgaggaggacaggaatgcagaggagaagtcccctttggacgtgctgaagagagcggcc
accaagaagagcagaaatgacctgatccacgcagaggagggagaggaccggtttgcagat
ctctgtgctgttggatcccccttcgcccgcgccagcctcaagagcgggaagacagagagc
tcgtcatacttccggaggaaggagaagatgttccggttttttatccggcgcatggtgaag
gctcagagcttctactgggtggtgctgtgcgtggtggccctgaacacactgtgtgtggcc
atggtgcattacaaccagccgcggcggcttaccacgaccctgtattttgcagagtttgtt
ttcctgggtctcttcctcacagagatgtccctgaagatgtatggcctggggcccagaagc
tacttccggtcctccttcaactgcttcgactttggggtcatcgtggggagcgtctttgaa
gtggtctgggcggccatcaagccgggaagctcctttgggatcagtgtgctgcgggccctc
cgcctgctgaggatcttcaaagtcacgaagtactggagctccctgcggaacctggtggtg
tccctgctgaactccatgaagtccatcatcagcctgctcttcttgctcttcctgttcatt
gtggtcttcgccctgctggggatgcagctgtttgggggacagttcaacttccaggatgag
actcccacaaccaacttcgacaccttccctgccgccatcctcactgtcttccagatcctg
acgggagaggactggaatgcagtgatgtatcacgggatcgaatcgcaaggcggcgtcagc
aaaggcatgttctcgtccttttacttcattgtcctgacactgttcggaaactacactctg
ctgaatgtctttctggccatcgctgtggacaacctggccaacgcccaagagctgaccaag
gatgaagaggagatggaagaagcagccaatcagaagcttgctctgcaaaaggccaaagaa
gtggctgaagtcagccccatgtctgccgcgaacatctccatcgccgccaggcagcagaac
tcggccaaggcgcgctcggtgtgggagcagcgggccagccagctacggctgcagaacctg
cgggccagctgcgaggcgctgtacagcgagatggaccccgaggagcggctgcgcttcgcc
actacgcgccacctgcggcccgacatgaagacgcacctggaccggccgctggtggtggag
ctgggccgcgacggcgcgcgggggcccgtgggaggcaaagcccgacctgaggctgcggag
gcccccgagggcgtcgaccctccgcgcaggcaccaccggcaccgcgacaaggacaagacc
cccgcggcgggggaccaggaccgagcagaggccccgaaggcggagagcggggagcccggt
gcccgggaggagcggccgcggccgcaccgcagccacagcaaggaggccgcggggcccccg
gaggcgcggagcgagcgcggccgaggcccaggccccgagggcggccggcggcaccaccgg
cgcggctccccggaggaggcggccgagcgggagccccgacgccaccgcgcgcaccggcac
caggatccgagcaaggagtgcgccggcgccaagggcgagcggcgcgcgcggcaccgcggc
ggcccccgagcggggccccgggaggcggagagcggggaggagccggcgcggcggcaccgg
gcccggcacaaggcgcagcctgctcacgaggctgtggagaaggagaccacggagaaggag
gccacggagaaggaggctgagatagtggaagccgacaaggaaaaggagctccggaaccac
cagccccgggagccacactgtgacctggagaccagtgggactgtgactgtgggtcccatg
cacacactgcccagcacctgtctccagaaggtggaggaacagccagaggatgcagacaat
cagcggaacgtcactcgcatgggcagtcagcccccagacccgaacactattgtacatatc
ccagtgatgctgacgggccctcttggggaagccacggtcgttcccagtggtaacgtggac
ctggaaagccaagcagaggggaagaaggaggtggaagcggatgacgtgatgaggagcggc
ccccggcctatcgtcccatacagctccatgttctgtttaagccccaccaacctgctccgc
cgcttctgccactacatcgtgaccatgaggtacttcgaggtggtcattctcgtggtcatc
gccttgagcagcatcgccctggctgctgaggacccagtgcgcacagactcgcccaggaac
aacgctctgaaatacctggattacattttcactggtgtctttacctttgagatggtgata
aagatgatcgacttgggactgctgcttcaccctggagcctatttccgggacttgtggaac
attctggacttcattgtggtcagtggcgccctggtggcgtttgctttctcaggatccaaa
gggaaagacatcaataccatcaagtctctgagagtccttcgtgtcctgcggcccctcaag
accatcaaacggctgcccaagctcaaggctgtgtttgactgtgtggtgaactccctgaag
aatgtcctcaacatcttgattgtctacatgctcttcatgttcatatttgccgtcattgcg
gtgcagctcttcaaagggaagtttttctactgcacagatgaatccaaggagctggagagg
gactgcaggggtcagtatttggattatgagaaggaggaagtggaagctcagcccaggcag
tggaagaaatacgactttcactacgacaatgtgctctgggctctgctgacgctgttcaca
gtgtccacgggagaaggctggcccatggtgctgaaacactccgtggatgccacctatgag
gagcagggtccaagccctgggtaccgcatggagctgtccatcttctacgtggtctacttt
gtggtctttcccttcttcttcgtcaacatctttgtggctttgatcatcatcaccttccag
gagcagggggacaaggtgatgtctgaatgcagcctggagaagaacgagagggcttgcatt
gacttcgccatcagcgccaaacccctgacacggtacatgccccaaaaccggcagtcgttc
cagtataagacgtggacatttgtggtctccccgccctttgaatacttcatcatggccatg
atagccctcaacactgtggtgctgatgatgaagttctatgatgcaccctatgagtacgag
ctgatgctgaaatgcctgaacatcgtgttcacatccatgttctccatggaatgcgtgctg
aagatcatcgcctttggggtgctgaactatttcagagatgcctggaatgtctttgacttt
gtcactgtgttgggaagtattactgatattttagtaacagagattgcggaaacgaacaat
ttcatcaacctcagcttcctccgcctctttcgagctgcgcggctgatcaagctgctccgc
cagggctacaccatccgcatcctgctgtggacctttgtccagtccttcaaggccctgccc
tacgtgtgtctgctcattgccatgctgttcttcatctacgccatcatcggcatgcaggtg
tttgggaatattgccctggatgatgacaccagcatcaaccgccacaacaacttccggacg
tttttgcaagccctgatgctgctgttcaggagcgccacgggggaggcctggcacgagatc
atgctgtcctgcctgagcaaccaggcctgtgatgagcaggccaatgccaccgagtgtgga
agtgactttgcctacttctacttcgtctccttcatcttcctgtgctcctttctgatgttg
aacctctttgtggctgtgatcatggacaattttgagtacctcacgcgggactcttccatc
ctaggtcctcaccacttggatgagttcatccgggtctgggctgaatacgacccggctgcg
tgtgggcgcatcagttacaatgacatgtttgagatgctgaaacacatgtccccgcctctg
gggctggggaagaaatgccctgctcgagttgcttacaagcgcctggttcgcatgaacatg
cccatctccaacgaggacatgactgttcacttcacgtccacgctgatggccctcatccgg
acggcactggagatcaagctggccccagctgggacaaagcagcatcagtgtgacgcggag
ttgaggaaggagatttccgttgtgtgggccaatctgccccagaagactttggacttgctg
gtaccaccccataagcctgatgagatgacagtggggaaggtttatgcagctctgatgata
ttcgacttctacaagcagaacaaaaccaccagagaccagatgcagcaggctcctggaggc
ctctcccagatgggtcctgtgtccctgttccaccctctgaaggccaccctggagcagaca
cagccggctgtgctccgaggagcccgggttttccttcgacagaagagttccacctccctc
agcaatggcggggccatacaaaaccaagagagtggcatcaaagagtctgtctcctggggc
actcaaaggacccaggatgcaccccatgaggccaggccacccctggagcgtggccactcc
acagagatccctgtggggcggtcaggagcactggctgtggacgttcagatgcagagcata
acccggaggggccctgatggggagccccagcctgggctggagagccagggtcgagcggcc
tccatgccccgccttgcggccgagactcagcccgtcacagatgccagccccatgaagcgc
tccatctccacgctggcccagcggccccgtgggactcatctttgcagcaccaccccggac
cgcccaccccctagccaggcgtcgtcgcaccaccaccaccaccgctgccaccgccgcagg
gacaggaagcagaggtccctggagaaggggcccagcctgtctgccgatatggatggcgca
ccaagcagtgctgtggggccggggctgcccccgggagaggggcctacaggctgccggcgg
gaacgagagcgccggcaggagcggggccggtcccaggagcggaggcagccctcatcctcc
tcctcggagaagcagcgcttctactcctgcgaccgctttgggggccgtgagcccccgaag
cccaagccctccctcagcagccacccaacgtcgccaacagctggccaggagccgggaccc
cacccacagggcagtggttccgtgaatgggagccccttgctgtcaacatctggtgctagc
acccccggccgcggtgggcggaggcagctcccccagacgcccctgactccccgccccagc
atcacctacaagacggccaactcctcacccatccacttcgccggggctcagaccagcctc
cctgccttctccccaggccggctcagccgtgggctttccgaacacaacgccctgctgcag
agagaccccctcagccagcccctggcccctggctctcgaattggctctgacccttacctg
gggcagcgtctggacagtgaggcctctgtccacgccctgcctgaggacactctcactttc
gaggaggctgtggccaccaactcgggccgctcctccaggacttcctacgtgtcctccctg
acctcccagtctcaccctctccgccgcgtgcccaacggttaccactgcaccctgggactc
agctcgggtggccgagcacggcacagctaccaccaccctgaccaagaccactggtgctag

KEGG   Homo sapiens (human): 777
Entry
777               CDS       T01001                                 

Gene name
CACNA1E, BII, CACH6, CACNL1A6, Cav2.3, DEE69, EIEE69, gm139
Definition
(RefSeq) calcium voltage-gated channel subunit alpha1 E
  KO
K04852  voltage-dependent calcium channel R type alpha-1E
Organism
hsa  Homo sapiens (human)
Pathway
hsa04010  MAPK signaling pathway
hsa04020  Calcium signaling pathway
hsa04930  Type II diabetes mellitus
Network
nt06410  Calcium signaling
nt06460  Alzheimer disease
nt06461  Huntington disease
nt06462  Spinocerebellar ataxia
nt06463  Parkinson disease
nt06465  Prion disease
  Element
N00967  VGCC-Ca2+ -apoptotic pathway
Disease
H00606  Early infantile epileptic encephalopathy
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04010 MAPK signaling pathway
    777 (CACNA1E)
   04020 Calcium signaling pathway
    777 (CACNA1E)
 09160 Human Diseases
  09167 Endocrine and metabolic disease
   04930 Type II diabetes mellitus
    777 (CACNA1E)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04040 Ion channels [BR:hsa04040]
    777 (CACNA1E)
Ion channels [BR:hsa04040]
 Voltage-gated cation channels
  Calcium channel, voltage-gated (Cav)
   777 (CACNA1E)
SSDB
Motif
Pfam: Ion_trans Ca_chan_IQ GPHH PKD_channel
Other DBs
NCBI-GeneID: 777
NCBI-ProteinID: NP_001192222
OMIM: 601013
HGNC: 1392
Ensembl: ENSG00000198216
Vega: OTTHUMG00000037301
Pharos: Q15878(Tbio)
UniProt: Q15878 Q59FG1
LinkDB
Position
1q25.3
AA seq 2313 aa
MARFGEAVVARPGSGDGDSDQSRNRQGTPVPASGQAAAYKQTKAQRARTMALYNPIPVRQ
NCFTVNRSLFIFGEDNIVRKYAKKLIDWPPFEYMILATIIANCIVLALEQHLPEDDKTPM
SRRLEKTEPYFIGIFCFEAGIKIVALGFIFHKGSYLRNGWNVMDFIVVLSGILATAGTHF
NTHVDLRTLRAVRVLRPLKLVSGIPSLQIVLKSIMKAMVPLLQIGLLLFFAILMFAIIGL
EFYSGKLHRACFMNNSGILEGFDPPHPCGVQGCPAGYECKDWIGPNDGITQFDNILFAVL
TVFQCITMEGWTTVLYNTNDALGATWNWLYFIPLIIIGSFFVLNLVLGVLSGEFAKERER
VENRRAFMKLRRQQQIERELNGYRAWIDKAEEVMLAEENKNAGTSALEVLRRATIKRSRT
EAMTRDSSDEHCVDISSVGTPLARASIKSAKVDGVSYFRHKERLLRISIRHMVKSQVFYW
IVLSLVALNTACVAIVHHNQPQWLTHLLYYAEFLFLGLFLLEMSLKMYGMGPRLYFHSSF
NCFDFGVTVGSIFEVVWAIFRPGTSFGISVLRALRLLRIFKITKYWASLRNLVVSLMSSM
KSIISLLFLLFLFIVVFALLGMQLFGGRFNFNDGTPSANFDTFPAAIMTVFQILTGEDWN
EVMYNGIRSQGGVSSGMWSAIYFIVLTLFGNYTLLNVFLAIAVDNLANAQELTKDEQEEE
EAFNQKHALQKAKEVSPMSAPNMPSIERDRRRRHHMSMWEPRSSHLRERRRRHHMSVWEQ
RTSQLRKHMQMSSQEALNREEAPTMNPLNPLNPLSSLNPLNAHPSLYRRPRAIEGLALGL
ALEKFEEERISRGGSLKGDGGDRSSALDNQRTPLSLGQREPPWLARPCHGNCDPTQQEAG
GGEAVVTFEDRARHRQSQRRSRHRRVRTEGKESSSASRSRSASQERSLDEAMPTEGEKDH
ELRGNHGAKEPTIQEERAQDLRRTNSLMVSRGSGLAGGLDEADTPLVLPHPELEVGKHVV
LTEQEPEGSSEQALLGNVQLDMGRVISQSEPDLSCITANTDKATTESTSVTVAIPDVDPL
VDSTVVHISNKTDGEASPLKEAEIREDEEEVEKKKQKKEKRETGKAMVPHSSMFIFSTTN
PIRRACHYIVNLRYFEMCILLVIAASSIALAAEDPVLTNSERNKVLRYFDYVFTGVFTFE
MVIKMIDQGLILQDGSYFRDLWNILDFVVVVGALVAFALANALGTNKGRDIKTIKSLRVL
RVLRPLKTIKRLPKLKAVFDCVVTSLKNVFNILIVYKLFMFIFAVIAVQLFKGKFFYCTD
SSKDTEKECIGNYVDHEKNKMEVKGREWKRHEFHYDNIIWALLTLFTVSTGEGWPQVLQH
SVDVTEEDRGPSRSNRMEMSIFYVVYFVVFPFFFVNIFVALIIITFQEQGDKMMEECSLE
KNERACIDFAISAKPLTRYMPQNRHTFQYRVWHFVVSPSFEYTIMAMIALNTVVLMMKYY
SAPCTYELALKYLNIAFTMVFSLECVLKVIAFGFLNYFRDTWNIFDFITVIGSITEIILT
DSKLVNTSGFNMSFLKLFRAARLIKLLRQGYTIRILLWTFVQSFKALPYVCLLIAMLFFI
YAIIGMQVFGNIKLDEESHINRHNNFRSFFGSLMLLFRSATGEAWQEIMLSCLGEKGCEP
DTTAPSGQNENERCGTDLAYVYFVSFIFFCSFLMLNLFVAVIMDNFEYLTRDSSILGPHH
LDEFVRVWAEYDRAACGRIHYTEMYEMLTLMSPPLGLGKRCPSKVAYKRLVLMNMPVAED
MTVHFTSTLMALIRTALDIKIAKGGADRQQLDSELQKETLAIWPHLSQKMLDLLVPMPKA
SDLTVGKIYAAMMIMDYYKQSKVKKQRQQLEEQKNAPMFQRMEPSSLPQEIIANAKALPY
LQQDPVSGLSGRSGYPSMSPLSPQDIFQLACMDPADDGQFQERQSLEPEVSELKSVQPSN
HGIYLPSDTQEHAGSGRASSMPRLTVDPQVVTDPSSMRRSFSTIRDKRSNSSWLEEFSME
RSSENTYKSRRRSYHSSLRLSAHRLNSDSGHKSDTHRSGGRERGRSKERKHLLSPDVSRC
NSEERGTQADWESPERRQSRSPSEGRSQTPNRQGTGSLSESSIPSVSDTSTPRRSRRQLP
PVPPKPRPLLSYSSLIRHAGSISPPADGSEEGSPLTSQALESNNACLTESSNSPHPQQSQ
HASPQRYISEPYLALHEDSHASDCGEEETLTFEAAVATSLGRSNTIGSAPPLRHSWQMPN
GHYRRRRRGGPGPGMMCGAVNNLLSDTEEDDKC
NT seq 6942 nt   +upstreamnt  +downstreamnt
atggctcgcttcggggaggcggtggtcgccaggccagggtccggcgatggagactcggac
cagagcaggaaccggcaaggaacccccgtgccggcctcggggcaggcggccgcctacaag
cagacgaaagcacagagggcgcggactatggctttgtacaaccccattcccgtccggcag
aactgtttcaccgtcaacagatccctgttcatcttcggagaagataacattgtcaggaaa
tatgccaagaagctcatcgattggccgccatttgagtacatgatcctggccaccatcatt
gccaactgcatcgtcctggccctggagcagcatcttcctgaggatgacaagacccccatg
tcccgaagactggagaagacagaaccttatttcattgggatcttttgctttgaagctggg
atcaaaattgtggccctggggttcatcttccataagggctcttacctccgcaatggctgg
aatgtcatggacttcatcgtggtcctcagtggcatcctggccactgcaggaacccacttc
aatactcacgtggacctgaggaccctccgggctgtgcgtgtcctgcggcctttgaagctc
gtgtcagggatacctagcctgcagattgtgttgaagtccatcatgaaggccatggtacct
cttctgcagattggccttctgctcttctttgccatcctgatgtttgctatcattggtttg
gagttctacagtggcaagttacatcgagcatgcttcatgaacaattcaggtattctagaa
ggatttgacccccctcacccatgtggtgtgcagggctgcccagctggttatgaatgcaag
gactggatcggccccaatgatgggatcacccagtttgataacatcctttttgctgtgctg
actgtcttccagtgcatcaccatggaagggtggaccactgtgctgtacaataccaatgat
gccttaggagccacctggaattggctgtacttcatccccctcatcatcattggatccttc
tttgttctcaacctagtcctgggagtgctttccggggaatttgccaaagagagagagaga
gtggagaaccgaagggctttcatgaagctgcggcgccagcagcagattgagcgtgagctg
aatggctaccgtgcctggatagacaaagcagaggaagtcatgctcgctgaagaaaataaa
aatgctggaacatccgccttagaagtgcttcgaagggcaaccatcaagaggagccggaca
gaggccatgactcgagactccagtgatgagcactgtgttgatatctcctctgtgggcaca
cctctggcccgagccagtatcaaaagtgcaaaggtagacggggtctcttatttccggcac
aaggaaaggcttctgcgcatctccattcgccacatggttaaatcccaggtgttttactgg
attgtgctgagccttgtggcactcaacactgcctgtgtggccattgtccatcacaaccag
ccccagtggctcacccacctcctctactatgcagaatttctgtttctgggactcttcctc
ttggagatgtccctgaagatgtatggcatggggcctcgcctttattttcactcttcattc
aactgctttgattttggggtcacagtgggcagtatctttgaagtggtctgggcaatcttc
agacctggtacgtcttttggaatcagtgtcttgcgagccctccggcttctaagaatattt
aaaataaccaagtattgggcttccctacggaatttggtggtctccttgatgagctcaatg
aagtctatcatcagtttgcttttcctcctcttcctcttcatcgttgtctttgctctccta
ggaatgcagttatttggaggcaggtttaactttaatgatgggactccttcggcaaatttt
gataccttccctgcagccatcatgactgtgttccagatcctgacgggtgaggactggaat
gaggtgatgtacaatgggatccgctcccagggtggggtcagctcaggcatgtggtctgcc
atctacttcattgtgctcaccttgtttggcaactacacgctactgaatgtgttcttggct
atcgctgtggataatctcgccaacgcccaggaactgaccaaggatgaacaggaggaagaa
gaggccttcaaccagaaacatgcactgcagaaggccaaggaggtcagcccgatgtctgca
cccaacatgccttcgatcgaaagagacagaaggagaagacaccacatgtcgatgtgggag
ccacgcagcagccacctgagggagcggaggcgccggcaccacatgtccgtgtgggagcag
cgtaccagccagctgaggaagcacatgcagatgtccagccaggaggccctcaacagagag
gaggcgccgaccatgaacccgctcaaccccctcaacccgctcagctccctcaacccgctc
aatgcccaccccagcctttatcggcgacccagggccattgagggcctggccctgggcctg
gccctggagaagttcgaggaggagcgcatcagccgtggggggtccctcaagggggatgga
ggggaccgatccagtgccctggacaaccagaggacccctttgtccctgggccagcgggag
ccaccatggctggccaggccctgtcatggaaactgtgacccgactcagcaggaggcaggg
ggaggagaggctgtggtgacctttgaggaccgggccaggcacaggcagagccaacggcgc
agccggcatcgccgcgtcaggacagaaggcaaggagtcctcttcagcctcccggagcagg
tctgccagccaggaacgcagtctggatgaagccatgcccactgaaggggagaaggaccat
gagctcaggggcaaccatggtgccaaggagccaacgatccaagaagagagagcccaggat
ttaaggaggaccaacagtctgatggtgtccagaggctccgggctggcaggaggccttgat
gaggctgacacccccctagtcctgccccatcctgagctggaagtggggaagcacgtggtg
ctgacggagcaggagccagaaggcagcagtgagcaggccctgctggggaatgtgcagcta
gacatgggccgggtcatcagccagagcgagcctgacctctcctgcatcacggccaacacg
gacaaggccaccaccgagagcaccagcgtcaccgtcgccatccccgacgtggaccccttg
gtggactcaaccgtggtgcacattagcaacaagacggatggggaagccagtcccttgaag
gaggcagagatcagagaggatgaggaggaggtggagaagaagaagcagaagaaggagaag
cgtgagacaggcaaagccatggtgccccacagctcaatgttcatcttcagcaccaccaac
ccgatccggagggcctgccactacatcgtgaacctgcgctactttgagatgtgcatcctc
ctggtgattgcagccagcagcatcgccctggcggcagaggaccccgtcctgaccaactcg
gagcgcaacaaagtcctgaggtattttgactatgtgttcacgggcgtgttcacctttgag
atggttataaagatgatagaccaaggcttgatcctgcaggatgggtcctacttccgagac
ttgtggaacatcctggactttgtggtggtcgttggcgcattggtggcctttgctctggcg
aacgctttgggaaccaacaaaggacgggacatcaagaccatcaagtctctgcgggtgctc
cgagttctaaggccactgaaaaccatcaagcgcttgcccaagctcaaggccgtcttcgac
tgcgtagtgacctccttgaagaatgtcttcaacatactcattgtgtacaagctcttcatg
ttcatctttgctgtcatcgcagttcagctcttcaagggaaagttcttttattgcacggac
agttccaaggacacagagaaggagtgcataggcaactatgtagatcatgagaaaaacaag
atggaggtgaagggccgggaatggaagcgccatgaattccactacgacaacattatctgg
gccctgctgaccctcttcaccgtctccacaggggaaggatggcctcaagttctgcagcac
tctgtagatgtgacagaggaagaccgaggcccaagccgcagcaaccgcatggagatgtct
atcttttatgtagtctactttgtggtcttccccttcttctttgtcaatatctttgtggct
ctcatcatcatcaccttccaggagcaaggggataagatgatggaggagtgcagcctggag
aagaatgagagggcgtgcatcgacttcgccatcagcgccaaacctctcacccgctacatg
ccgcagaacagacacaccttccagtaccgcgtgtggcactttgtggtgtctccgtccttt
gagtacaccattatggccatgatcgccttgaatactgttgtgctgatgatgaagtattat
tctgctccctgtacctatgagctggccctgaagtacctgaatatcgccttcaccatggtg
ttttccctggaatgtgtcctgaaggtcatcgcttttggctttttgaactatttccgagac
acctggaatatctttgacttcatcaccgtgattggcagtatcacagaaattatcctgaca
gacagcaagctggtgaacaccagtggcttcaatatgagctttctgaagctcttccgagct
gcccgcctcataaagctcctgcgtcagggctataccatacgcattttgctgtggaccttt
gtgcagtcctttaaggccctcccttatgtctgccttttaattgccatgcttttcttcatt
tatgccatcattgggatgcaggtatttggaaacataaaattagacgaggagagtcacatc
aaccggcacaacaacttccggagtttctttgggtccctaatgctactcttcaggagtgcc
acaggtgaggcctggcaggagattatgctgtcatgccttggggagaagggctgtgagcct
gacaccaccgcaccatcagggcagaacgagaacgaacgctgcggcaccgatctggcctac
gtgtactttgtctccttcatcttcttctgctccttcttgatgctcaacctgtttgtggcc
gtcatcatggacaactttgagtacctgactcgggactcctccatcctggggcctcaccac
ttggacgagtttgtccgcgtctgggcagaatatgaccgagcagcatgtggccgcatccat
tacactgagatgtatgaaatgctgactctcatgtcacctccgctaggcctcggcaagaga
tgtccctccaaagtggcatataagaggttggtcctgatgaacatgccagtagctgaggac
atgacggtccacttcacctccacacttatggctctgatccggacagctctggacattaaa
attgccaaaggtggtgcagacaggcagcagctagactcagagctacaaaaggagacccta
gccatctggcctcacctatcccagaagatgctggatctgcttgtgcccatgcccaaagcc
tctgacctgactgtgggcaaaatctatgcagcaatgatgatcatggactactataagcag
agtaaggtgaagaagcagaggcagcagctggaggaacagaaaaatgcccccatgttccag
cgcatggagccttcatctctgcctcaggagatcattgctaatgccaaagccctgccttac
ctccagcaggaccccgtttcaggcctgagtggccggagtggatacccttcgatgagtcca
ctctctccccaggatatattccagttggcttgtatggaccccgccgatgacggacagttc
caagaacggcagtctctggagccagaggttagtgaattaaaaagcgtgcagccctctaac
catggcatctaccttccttcggacacccaggagcatgcgggatctgggagggcatcttct
atgccacgtctgactgtggatccccaggtggtgacagaccctagctccatgagacgttca
ttttccactattcgggataagcgttcaaattcctcgtggttggaggaattctccatggag
cgaagcagtgaaaatacctacaagtcccgtcgccggagttaccactcctccttgcggctg
tcagcccaccgcctgaactctgattcaggccacaagtctgacactcaccgctcagggggc
agggagcggggacgatcaaaagagcgaaagcatcttctctctcctgatgtctcccgctgc
aattcagaagagcgagggacccaggctgactgggagtccccagagcgccgtcaatccagg
tcacccagtgagggcaggtcacagacgcccaacagacagggcacaggttccctaagtgag
agctccatcccctctgtctctgacaccagcaccccaagaagaagtcgtcggcagctccca
cccgtcccgccaaagccccggcccctcctttcctacagctccctgattcgacacgcgggc
agcatctctccacctgctgatggaagcgaggagggctccccgctgacctcccaagctctg
gagagcaacaatgcttgcctgaccgagtcttccaactctccgcacccccagcagagccaa
catgcctccccacagcgctacatctccgagccctacttggccctgcacgaagactcccac
gcctcagactgtggtgaggaggagacgctcactttcgaagcagccgtggctactagcctg
ggccgttccaacaccatcggctcagccccacccctgcggcatagctggcagatgcccaac
gggcactatcggcggcggaggcgcggggggcctgggccaggcatgatgtgtggggctgtc
aacaacctgctaagtgacacggaagaagatgacaaatgctag

KEGG   Homo sapiens (human): 8913
Entry
8913              CDS       T01001                                 

Gene name
CACNA1G, Ca(V)T.1, Cav3.1, NBR13, SCA42, SCA42ND
Definition
(RefSeq) calcium voltage-gated channel subunit alpha1 G
  KO
K04854  voltage-dependent calcium channel T type alpha-1G
Organism
hsa  Homo sapiens (human)
Pathway
hsa04010  MAPK signaling pathway
hsa04020  Calcium signaling pathway
hsa04713  Circadian entrainment
hsa04925  Aldosterone synthesis and secretion
hsa04927  Cortisol synthesis and secretion
hsa04929  GnRH secretion
hsa04930  Type II diabetes mellitus
hsa04934  Cushing syndrome
Network
nt06410  Calcium signaling
nt06460  Alzheimer disease
nt06461  Huntington disease
nt06462  Spinocerebellar ataxia
nt06463  Parkinson disease
nt06465  Prion disease
  Element
N00967  VGCC-Ca2+ -apoptotic pathway
Disease
H00063  Spinocerebellar ataxia (SCA)
Drug target
Bepridil (DG00333): D00631<JP> D07520
Ethosuximide: D00539<JP/US>
Flunarizine (DG01006): D01303 D07971
Lomerizine hydrochloride: D02633<JP>
Mesuximide: D00404<US>
Mibefradil (DG00328): D05024 D08217
Penfluridol: D02630
Suvecaltamide (DG03155): D12061 D12062
Valproic acid (DG00849): D00304<US> D00399<US> D00710<JP/US> D08667
Zonisamide: D00538<JP/US>
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04010 MAPK signaling pathway
    8913 (CACNA1G)
   04020 Calcium signaling pathway
    8913 (CACNA1G)
 09150 Organismal Systems
  09152 Endocrine system
   04929 GnRH secretion
    8913 (CACNA1G)
   04925 Aldosterone synthesis and secretion
    8913 (CACNA1G)
   04927 Cortisol synthesis and secretion
    8913 (CACNA1G)
  09159 Environmental adaptation
   04713 Circadian entrainment
    8913 (CACNA1G)
 09160 Human Diseases
  09167 Endocrine and metabolic disease
   04930 Type II diabetes mellitus
    8913 (CACNA1G)
   04934 Cushing syndrome
    8913 (CACNA1G)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04040 Ion channels [BR:hsa04040]
    8913 (CACNA1G)
Ion channels [BR:hsa04040]
 Voltage-gated cation channels
  Calcium channel, voltage-gated (Cav)
   8913 (CACNA1G)
SSDB
Motif
Pfam: Ion_trans PKD_channel SieB
Other DBs
NCBI-GeneID: 8913
NCBI-ProteinID: NP_061496
OMIM: 604065
HGNC: 1394
Ensembl: ENSG00000006283
Vega: OTTHUMG00000162180
Pharos: O43497(Tclin)
UniProt: O43497
LinkDB
Position
17q21.33
AA seq 2377 aa
MDEEEDGAGAEESGQPRSFMRLNDLSGAGGRPGPGSAEKDPGSADSEAEGLPYPALAPVV
FFYLSQDSRPRSWCLRTVCNPWFERISMLVILLNCVTLGMFRPCEDIACDSQRCRILQAF
DDFIFAFFAVEMVVKMVALGIFGKKCYLGDTWNRLDFFIVIAGMLEYSLDLQNVSFSAVR
TVRVLRPLRAINRVPSMRILVTLLLDTLPMLGNVLLLCFFVFFIFGIVGVQLWAGLLRNR
CFLPENFSLPLSVDLERYYQTENEDESPFICSQPRENGMRSCRSVPTLRGDGGGGPPCGL
DYEAYNSSSNTTCVNWNQYYTNCSAGEHNPFKGAINFDNIGYAWIAIFQVITLEGWVDIM
YFVMDAHSFYNFIYFILLIIVGSFFMINLCLVVIATQFSETKQRESQLMREQRVRFLSNA
STLASFSEPGSCYEELLKYLVYILRKAARRLAQVSRAAGVRVGLLSSPAPLGGQETQPSS
SCSRSHRRLSVHHLVHHHHHHHHHYHLGNGTLRAPRASPEIQDRDANGSRRLMLPPPSTP
ALSGAPPGGAESVHSFYHADCHLEPVRCQAPPPRSPSEASGRTVGSGKVYPTVHTSPPPE
TLKEKALVEVAASSGPPTLTSLNIPPGPYSSMHKLLETQSTGACQSSCKISSPCLKADSG
ACGPDSCPYCARAGAGEVELADREMPDSDSEAVYEFTQDAQHSDLRDPHSRRQRSLGPDA
EPSSVLAFWRLICDTFRKIVDSKYFGRGIMIAILVNTLSMGIEYHEQPEELTNALEISNI
VFTSLFALEMLLKLLVYGPFGYIKNPYNIFDGVIVVISVWEIVGQQGGGLSVLRTFRLMR
VLKLVRFLPALQRQLVVLMKTMDNVATFCMLLMLFIFIFSILGMHLFGCKFASERDGDTL
PDRKNFDSLLWAIVTVFQILTQEDWNKVLYNGMASTSSWAALYFIALMTFGNYVLFNLLV
AILVEGFQAEEISKREDASGQLSCIQLPVDSQGGDANKSESEPDFFSPSLDGDGDRKKCL
ALVSLGEHPELRKSLLPPLIIHTAATPMSLPKSTSTGLGEALGPASRRTSSSGSAEPGAA
HEMKSPPSARSSPHSPWSAASSWTSRRSSRNSLGRAPSLKRRSPSGERRSLLSGEGQESQ
DEEESSEEERASPAGSDHRHRGSLEREAKSSFDLPDTLQVPGLHRTASGRGSASEHQDCN
GKSASGRLARALRPDDPPLDGDDADDEGNLSKGERVRAWIRARLPACCLERDSWSAYIFP
PQSRFRLLCHRIITHKMFDHVVLVIIFLNCITIAMERPKIDPHSAERIFLTLSNYIFTAV
FLAEMTVKVVALGWCFGEQAYLRSSWNVLDGLLVLISVIDILVSMVSDSGTKILGMLRVL
RLLRTLRPLRVISRAQGLKLVVETLMSSLKPIGNIVVICCAFFIIFGILGVQLFKGKFFV
CQGEDTRNITNKSDCAEASYRWVRHKYNFDNLGQALMSLFVLASKDGWVDIMYDGLDAVG
VDQQPIMNHNPWMLLYFISFLLIVAFFVLNMFVGVVVENFHKCRQHQEEEEARRREEKRL
RRLEKKRRNLMLDDVIASGSSASAASEAQCKPYYSDYSRFRLLVHHLCTSHYLDLFITGV
IGLNVVTMAMEHYQQPQILDEALKICNYIFTVIFVLESVFKLVAFGFRRFFQDRWNQLDL
AIVLLSIMGITLEEIEVNASLPINPTIIRIMRVLRIARVLKLLKMAVGMRALLDTVMQAL
PQVGNLGLLFMLLFFIFAALGVELFGDLECDETHPCEGLGRHATFRNFGMAFLTLFRVST
GDNWNGIMKDTLRDCDQESTCYNTVISPIYFVSFVLTAQFVLVNVVIAVLMKHLEESNKE
AKEEAELEAELELEMKTLSPQPHSPLGSPFLWPGVEGPDSPDSPKPGALHPAAHARSASH
FSLEHPTDRQLFDTISLLIQGSLEWELKLMDELAGPGGQPSAFPSAPSLGGSDPQIPLAE
MEALSLTSEIVSEPSCSLALTDDSLPDDMHTLLLSALESNMQPHPTELPGPDLLTVRKSG
VSRTHSLPNDSYMCRHGSTAEGPLGHRGWGLPKAQSGSVLSVHSQPADTSYILQLPKDAP
HLLQPHSAPTWGTIPKLPPPGRSPLAQRPLRRQAAIRTDSLDVQGLGSREDLLAEVSGPS
PPLARAYSFWGQSSTQAQQHSRSHSKISKHMTPPAPCPGPEPNWGKGPPETRSSLELDTE
LSWISGDLLPPGGQEEPPSPRDLKKCYSVEAQSCQRRPTSWLDEQRRHSIAVSCLDSGSQ
PHLGTDPSNLGGQPLGGPGSRPKKKLSPPSITIDPPESQGPRTPPSPGICLRRRAPSSDS
KDPLASGPPDSMAASPSPKKDVLSLSGLSSDPADLDP
NT seq 7134 nt   +upstreamnt  +downstreamnt
atggacgaggaggaggatggagcgggcgccgaggagtcgggacagccccggagcttcatg
cggctcaacgacctgtcgggggccgggggccggccggggccggggtcagcagaaaaggac
ccgggcagcgcggactccgaggcggaggggctgccgtacccggcgctggccccggtggtt
ttcttctacttgagccaggacagccgcccgcggagctggtgtctccgcacggtctgtaac
ccctggtttgagcgcatcagcatgttggtcatccttctcaactgcgtgaccctgggcatg
ttccggccatgcgaggacatcgcctgtgactcccagcgctgccggatcctgcaggccttt
gatgacttcatctttgccttctttgccgtggagatggtggtgaagatggtggccttgggc
atctttgggaaaaagtgttacctgggagacacttggaaccggcttgactttttcatcgtc
atcgcagggatgctggagtactcgctggacctgcagaacgtcagcttctcagctgtcagg
acagtccgtgtgctgcgaccgctcagggccattaaccgggtgcccagcatgcgcatcctt
gtcacgttgctgctggatacgctgcccatgctgggcaacgtcctgctgctctgcttcttc
gtcttcttcatcttcggcatcgtcggcgtccagctgtgggcagggctgcttcggaaccga
tgcttcctacctgagaatttcagcctccccctgagcgtggacctggagcgctattaccag
acagagaacgaggatgagagccccttcatctgctcccagccacgcgagaacggcatgcgg
tcctgcagaagcgtgcccacgctgcgcggggacgggggcggtggcccaccttgcggtctg
gactatgaggcctacaacagctccagcaacaccacctgtgtcaactggaaccagtactac
accaactgctcagcgggggagcacaaccccttcaagggcgccatcaactttgacaacatt
ggctatgcctggatcgccatcttccaggtcatcacgctggagggctgggtcgacatcatg
tactttgtgatggatgctcattccttctacaatttcatctacttcatcctcctcatcatc
gtgggctccttcttcatgatcaacctgtgcctggtggtgattgccacgcagttctcagag
accaagcagcgggaaagccagctgatgcgggagcagcgtgtgcggttcctgtccaacgcc
agcaccctggctagcttctctgagcccggcagctgctatgaggagctgctcaagtacctg
gtgtacatccttcgtaaggcagcccgcaggctggctcaggtctctcgggcagcaggtgtg
cgggttgggctgctcagcagcccagcacccctcgggggccaggagacccagcccagcagc
agctgctctcgctcccaccgccgcctatccgtccaccacctggtgcaccaccaccaccac
catcaccaccactaccacctgggcaatgggacgctcagggccccccgggccagcccggag
atccaggacagggatgccaatgggtcccgccggctcatgctgccaccaccctcgacgcct
gccctctccggggccccccctggtggcgcagagtctgtgcacagcttctaccatgccgac
tgccacttagagccagtccgctgccaggcgccccctcccaggtccccatctgaggcatcc
ggcaggactgtgggcagcgggaaggtgtatcccaccgtgcacaccagccctccaccggag
acgctgaaggagaaggcactagtagaggtggctgccagctctgggcccccaaccctcacc
agcctcaacatcccacccgggccctacagctccatgcacaagctgctggagacacagagt
acaggtgcctgccaaagctcttgcaagatctccagcccttgcttgaaagcagacagtgga
gcctgtggtccagacagctgcccctactgtgcccgggccggggcaggggaggtggagctc
gccgaccgtgaaatgcctgactcagacagcgaggcagtttatgagttcacacaggatgcc
cagcacagcgacctccgggacccccacagccggcggcaacggagcctgggcccagatgca
gagcccagctctgtgctggccttctggaggctaatctgtgacaccttccgaaagattgtg
gacagcaagtactttggccggggaatcatgatcgccatcctggtcaacacactcagcatg
ggcatcgaataccacgagcagcccgaggagcttaccaacgccctagaaatcagcaacatc
gtcttcaccagcctctttgccctggagatgctgctgaagctgcttgtgtatggtcccttt
ggctacatcaagaatccctacaacatcttcgatggtgtcattgtggtcatcagcgtgtgg
gagatcgtgggccagcaggggggcggcctgtcggtgctgcggaccttccgcctgatgcgt
gtgctgaagctggtgcgcttcctgccggcgctgcagcggcagctggtggtgctcatgaag
accatggacaacgtggccaccttctgcatgctgcttatgctcttcatcttcatcttcagc
atcctgggcatgcatctcttcggctgcaagtttgcctctgagcgggatggggacaccctg
ccagaccggaagaattttgactccttgctctgggccatcgtcactgtctttcagatcctg
acccaggaggactggaacaaagtcctctacaatggtatggcctccacgtcgtcctgggcg
gccctttatttcattgccctcatgaccttcggcaactacgtgctcttcaatttgctggtc
gccattctggtggagggcttccaggcggaggaaatcagcaaacgggaagatgcgagtgga
cagttaagctgtattcagctgcctgtcgactcccaggggggagatgccaacaagtccgaa
tcagagcccgatttcttctcacccagcctggatggtgatggggacaggaagaagtgcttg
gccttggtgtccctgggagagcacccggagctgcggaagagcctgctgccgcctctcatc
atccacacggccgccacacccatgtcgctgcccaagagcaccagcacgggcctgggcgag
gcgctgggccctgcgtcgcgccgcaccagcagcagcgggtcggcagagcctggggcggcc
cacgagatgaagtcaccgcccagcgcccgcagctctccgcacagcccctggagcgctgca
agcagctggaccagcaggcgctccagccggaacagcctcggccgtgcacccagcctgaag
cggagaagcccaagtggagagcggcggtccctgttgtcgggagaaggccaggagagccag
gatgaagaggagagctcagaagaggagcgggccagccctgcgggcagtgaccatcgccac
agggggtccctggagcgggaggccaagagttcctttgacctgccagacacactgcaggtg
ccagggctgcatcgcactgccagtggccgagggtctgcttctgagcaccaggactgcaat
ggcaagtcggcttcagggcgcctggcccgggccctgcggcctgatgaccccccactggat
ggggatgacgccgatgacgagggcaacctgagcaaaggggaacgggtccgcgcgtggatc
cgagcccgactccctgcctgctgcctcgagcgagactcctggtcagcctacatcttccct
cctcagtccaggttccgcctcctgtgtcaccggatcatcacccacaagatgttcgaccac
gtggtccttgtcatcatcttccttaactgcatcaccatcgccatggagcgccccaaaatt
gacccccacagcgctgaacgcatcttcctgaccctctccaattacatcttcaccgcagtc
tttctggctgaaatgacagtgaaggtggtggcactgggctggtgcttcggggagcaggcg
tacctgcggagcagttggaacgtgctggacgggctgttggtgctcatctccgtcatcgac
attctggtgtccatggtctctgacagcggcaccaagatcctgggcatgctgagggtgctg
cggctgctgcggaccctgcgcccgctcagggtgatcagccgggcgcaggggctgaagctg
gtggtggagacgctgatgtcctcactgaaacccatcggcaacattgtagtcatctgctgt
gccttcttcatcattttcggcatcttgggggtgcagctcttcaaagggaagtttttcgtg
tgccagggcgaggataccaggaacatcaccaataaatcggactgtgccgaggccagttac
cggtgggtccggcacaagtacaactttgacaaccttggccaggccctgatgtccctgttc
gttttggcctccaaggatggttgggtggacatcatgtacgatgggctggatgctgtgggc
gtggaccagcagcccatcatgaaccacaacccctggatgctgctgtacttcatctcgttc
ctgctcattgtggccttctttgtcctgaacatgtttgtgggtgtggtggtggagaacttc
cacaagtgtcggcagcaccaggaggaagaggaggcccggcggcgggaggagaagcgccta
cgaagactggagaaaaagagaaggaatctaatgctggacgatgtaattgcttccggcagc
tcagccagcgctgcgtcagaagcccagtgcaaaccttactactccgactactcccgcttc
cggctcctcgtccaccacttgtgcaccagccactacctggacctcttcatcacaggtgtc
atcgggctgaacgtggtcaccatggccatggagcactaccagcagccccagattctggat
gaggctctgaagatctgcaactacatcttcactgtcatctttgtcttggagtcagttttc
aaacttgtggcctttggtttccgtcggttcttccaggacaggtggaaccagctggacctg
gccattgtgctgctgtccatcatgggcatcacgctggaggaaatcgaggtcaacgcctcg
ctgcccatcaaccccaccatcatccgcatcatgagggtgctgcgcattgcccgagtgctg
aagctgctgaagatggctgtgggcatgcgggcgctgctggacacggtgatgcaggccctg
ccccaggtggggaacctgggacttctcttcatgttgttgtttttcatctttgcagctctg
ggcgtggagctctttggagacctggagtgtgacgagacacacccctgtgagggcctgggc
cgtcatgccacctttcggaactttggcatggccttcctaaccctcttccgagtctccaca
ggtgacaattggaatggcattatgaaggacaccctccgggactgtgaccaggagtccacc
tgctacaacacggtcatctcgcctatctactttgtgtccttcgtgctgacggcccagttc
gtgctagtcaacgtggtgatcgccgtgctgatgaagcacctggaggagagcaacaaggag
gccaaggaggaggccgagctagaggctgagctggagctggagatgaagaccctcagcccc
cagccccactcgccactgggcagccccttcctctggcctggggtcgagggccccgacagc
cccgacagccccaagcctggggctctgcacccagcggcccacgcgagatcagcctcccac
ttttccctggagcaccccacggacaggcagctgtttgacaccatatccctgctgatccag
ggctccctggagtgggagctgaagctgatggacgagctggcaggcccagggggccagccc
tctgccttcccttctgcccccagcctgggaggctccgacccacagatccctctagctgag
atggaggctctgtctctgacgtcagagattgtgtctgaaccgtcctgctctctagctctg
acggatgactctttgcctgatgacatgcacacactcttacttagtgccctggagagcaat
atgcagccccaccccacggagctgccaggaccagacttactgactgtgcggaagtctggg
gtcagccgaacgcactctctgcccaatgacagctacatgtgtcggcatgggagcactgcc
gaggggcccctgggacacaggggctgggggctccccaaagctcagtcaggctccgtcttg
tccgttcactcccagccagcagataccagctacatcctgcagcttcccaaagatgcacct
catctgctccagccccacagcgccccaacctggggcaccatccccaaactgcccccacca
ggacgctcccctttggctcagaggccactcaggcgccaggcagcaataaggactgactcc
ttggacgttcagggtctgggcagccgggaagacctgctggcagaggtgagtgggccctcc
ccgcccctggcccgggcctactctttctggggccagtcaagtacccaggcacagcagcac
tcccgcagccacagcaagatctccaagcacatgaccccgccagccccttgcccaggccca
gaacccaactggggcaagggccctccagagaccagaagcagcttagagttggacacggag
ctgagctggatttcaggagacctcctgccccctggcggccaggaggagcccccatcccca
cgggacctgaagaagtgctacagcgtggaggcccagagctgccagcgccggcctacgtcc
tggctggatgagcagaggagacactctatcgccgtcagctgcctggacagcggctcccaa
ccccacctgggcacagacccctctaaccttgggggccagcctcttggggggcctgggagc
cggcccaagaaaaaactcagcccgcctagtatcaccatagacccccccgagagccaaggt
cctcggaccccgcccagccctggtatctgcctccggaggagggctccgtccagcgactcc
aaggatcccttggcctctggcccccctgacagcatggctgcctcgccctccccaaagaaa
gatgtgctgagtctctccggtttatcctctgacccagcagacctggacccctga

KEGG   Homo sapiens (human): 8912
Entry
8912              CDS       T01001                                 

Gene name
CACNA1H, CACNA1HB, Cav3.2, ECA6, EIG6, HALD4
Definition
(RefSeq) calcium voltage-gated channel subunit alpha1 H
  KO
K04855  voltage-dependent calcium channel T type alpha-1H
Organism
hsa  Homo sapiens (human)
Pathway
hsa04010  MAPK signaling pathway
hsa04020  Calcium signaling pathway
hsa04713  Circadian entrainment
hsa04925  Aldosterone synthesis and secretion
hsa04927  Cortisol synthesis and secretion
hsa04929  GnRH secretion
hsa04934  Cushing syndrome
Network
nt06316  Angiotensin-aldosterone signaling
nt06410  Calcium signaling
nt06460  Alzheimer disease
nt06461  Huntington disease
nt06462  Spinocerebellar ataxia
nt06463  Parkinson disease
nt06465  Prion disease
  Element
N00302  Mutation-activated CACNA1D/H to angiotensin-aldosterone signaling pathway
N00303  Mutation-activated KCNJ5 to angiotensin-aldosterone signaling pathway
N00304  Mutation-inactivated ATP1A1 to angiotensin-aldosterone signaling pathway
N00967  VGCC-Ca2+ -apoptotic pathway
Disease
H00808  Idiopathic generalized epilepsies
H01603  Primary aldosteronism
H02215  Childhood absence epilepsy
Drug target
Bepridil (DG00333): D00631<JP> D07520
Ethosuximide: D00539<JP/US>
Flunarizine (DG01006): D01303 D07971
Lomerizine hydrochloride: D02633<JP>
Mesuximide: D00404<US>
Mibefradil (DG00328): D05024 D08217
Penfluridol: D02630
Suvecaltamide (DG03155): D12061 D12062
Valproic acid (DG00849): D00304<US> D00399<US> D00710<JP/US> D08667
Zonisamide: D00538<JP/US>
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04010 MAPK signaling pathway
    8912 (CACNA1H)
   04020 Calcium signaling pathway
    8912 (CACNA1H)
 09150 Organismal Systems
  09152 Endocrine system
   04929 GnRH secretion
    8912 (CACNA1H)
   04925 Aldosterone synthesis and secretion
    8912 (CACNA1H)
   04927 Cortisol synthesis and secretion
    8912 (CACNA1H)
  09159 Environmental adaptation
   04713 Circadian entrainment
    8912 (CACNA1H)
 09160 Human Diseases
  09167 Endocrine and metabolic disease
   04934 Cushing syndrome
    8912 (CACNA1H)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04040 Ion channels [BR:hsa04040]
    8912 (CACNA1H)
Ion channels [BR:hsa04040]
 Voltage-gated cation channels
  Calcium channel, voltage-gated (Cav)
   8912 (CACNA1H)
SSDB
Motif
Pfam: Ion_trans PKD_channel
Other DBs
NCBI-GeneID: 8912
NCBI-ProteinID: NP_066921
OMIM: 607904
HGNC: 1395
Ensembl: ENSG00000196557
Vega: OTTHUMG00000172992
Pharos: O95180(Tclin)
UniProt: O95180 B3KQH9
LinkDB
Position
16p13.3
AA seq 2353 aa
MTEGARAADEVRVPLGAPPPGPAALVGASPESPGAPGREAERGSELGVSPSESPAAERGA
ELGADEEQRVPYPALAATVFFCLGQTTRPRSWCLRLVCNPWFEHVSMLVIMLNCVTLGMF
RPCEDVECGSERCNILEAFDAFIFAFFAVEMVIKMVALGLFGQKCYLGDTWNRLDFFIVV
AGMMEYSLDGHNVSLSAIRTVRVLRPLRAINRVPSMRILVTLLLDTLPMLGNVLLLCFFV
FFIFGIVGVQLWAGLLRNRCFLDSAFVRNNNLTFLRPYYQTEEGEENPFICSSRRDNGMQ
KCSHIPGRRELRMPCTLGWEAYTQPQAEGVGAARNACINWNQYYNVCRSGDSNPHNGAIN
FDNIGYAWIAIFQVITLEGWVDIMYYVMDAHSFYNFIYFILLIIVGSFFMINLCLVVIAT
QFSETKQRESQLMREQRARHLSNDSTLASFSEPGSCYEELLKYVGHIFRKVKRRSLRLYA
RWQSRWRKKVDPSAVQGQGPGHRQRRAGRHTASVHHLVYHHHHHHHHHYHFSHGSPRRPG
PEPGACDTRLVRAGAPPSPPSPGRGPPDAESVHSIYHADCHIEGPQERARVAHAAATAAA
SLRLATGLGTMNYPTILPSGVGSGKGSTSPGPKGKWAGGPPGTGGHGPLSLNSPDPYEKI
PHVVGEHGLGQAPGHLSGLSVPCPLPSPPAGTLTCELKSCPYCTRALEDPEGELSGSESG
DSDGRGVYEFTQDVRHGDRWDPTRPPRATDTPGPGPGSPQRRAQQRAAPGEPGWMGRLWV
TFSGKLRRIVDSKYFSRGIMMAILVNTLSMGVEYHEQPEELTNALEISNIVFTSMFALEM
LLKLLACGPLGYIRNPYNIFDGIIVVISVWEIVGQADGGLSVLRTFRLLRVLKLVRFLPA
LRRQLVVLVKTMDNVATFCTLLMLFIFIFSILGMHLFGCKFSLKTDTGDTVPDRKNFDSL
LWAIVTVFQILTQEDWNVVLYNGMASTSSWAALYFVALMTFGNYVLFNLLVAILVEGFQA
EGDANRSDTDEDKTSVHFEEDFHKLRELQTTELKMCSLAVTPNGHLEGRGSLSPPLIMCT
AATPMPTPKSSPFLDAAPSLPDSRRGSSSSGDPPLGDQKPPASLRSSPCAPWGPSGAWSS
RRSSWSSLGRAPSLKRRGQCGERESLLSGEGKGSTDDEAEDGRAAPGPRATPLRRAESLD
PRPLRPAALPPTKCRDRDGQVVALPSDFFLRIDSHREDAAELDDDSEDSCCLRLHKVLEP
YKPQWCRSREAWALYLFSPQNRFRVSCQKVITHKMFDHVVLVFIFLNCVTIALERPDIDP
GSTERVFLSVSNYIFTAIFVAEMMVKVVALGLLSGEHAYLQSSWNLLDGLLVLVSLVDIV
VAMASAGGAKILGVLRVLRLLRTLRPLRVISRAPGLKLVVETLISSLRPIGNIVLICCAF
FIIFGILGVQLFKGKFYYCEGPDTRNISTKAQCRAAHYRWVRRKYNFDNLGQALMSLFVL
SSKDGWVNIMYDGLDAVGVDQQPVQNHNPWMLLYFISFLLIVSFFVLNMFVGVVVENFHK
CRQHQEAEEARRREEKRLRRLERRRRSTFPSPEAQRRPYYADYSPTRRSIHSLCTSHYLD
LFITFIICVNVITMSMEHYNQPKSLDEALKYCNYVFTIVFVFEAALKLVAFGFRRFFKDR
WNQLDLAIVLLSLMGITLEEIEMSAALPINPTIIRIMRVLRIARVLKLLKMATGMRALLD
TVVQALPQVGNLGLLFMLLFFIYAALGVELFGRLECSEDNPCEGLSRHATFSNFGMAFLT
LFRVSTGDNWNGIMKDTLRECSREDKHCLSYLPALSPVYFVTFVLVAQFVLVNVVVAVLM
KHLEESNKEAREDAELDAEIELEMAQGPGSARRVDADRPPLPQESPGARDAPNLVARKVS
VSRMLSLPNDSYMFRPVVPASAPHPRPLQEVEMETYGAGTPLGSVASVHSPPAESCASLQ
IPLAVSSPARSGEPLHALSPRGTARSPSLSRLLCRQEAVHTDSLEGKIDSPRDTLDPAEP
GEKTPVRPVTQGGSLQSPPRSPRPASVRTRKHTFGQRCVSSRPAAPGGEEAEASDPADEE
VSHITSSACPWQPTAEPHGPEASPVAGGERDLRRLYSVDAQGFLDKPGRADEQWRPSAEL
GSGEPGEAKAWGPEAEPALGARRKKKMSPPCISVEPPAEDEGSARPSAAEGGSTTLRRRT
PSCEATPHRDSLEPTEGSGAGGDPAAKGERWGQASCRAEHLTVPSFAFEPLDLGVPSGDP
FLDGSHSVTPESRASSSGAIVPLEPPESEPPMPVGDPPEKRRGLYLTVPQCPLEKPGSPS
ATPAPGGGADDPV
NT seq 7062 nt   +upstreamnt  +downstreamnt
atgaccgagggcgcacgggccgccgacgaggtccgggtgcccctgggcgcgccgccccct
ggccctgcggcgttggtgggggcgtccccggagagccccggggcgccgggacgcgaggcg
gagcgggggtccgagctcggcgtgtcaccctccgagagcccggcggccgagcgcggcgcg
gagctgggtgccgacgaggagcagcgcgtcccgtacccggccttggcggccacggtcttc
ttctgcctcggtcagaccacgcggccgcgcagctggtgcctccggctggtctgcaaccca
tggttcgagcacgtgagcatgctggtaatcatgctcaactgcgtgaccctgggcatgttc
cggccctgtgaggacgttgagtgcggctccgagcgctgcaacatcctggaggcctttgac
gccttcattttcgccttttttgcggtggagatggtcatcaagatggtggccttggggctg
ttcgggcagaagtgttacctgggtgacacgtggaacaggctggatttcttcatcgtcgtg
gcgggcatgatggagtactcgttggacggacacaacgtgagcctctcggctatcaggacc
gtgcgggtgctgcggcccctccgcgccatcaaccgcgtgcctagcatgcggatcctggtc
actctgctgctggatacgctgcccatgctcgggaacgtccttctgctgtgcttcttcgtc
ttcttcattttcggcatcgttggcgtccagctctgggctggcctcctgcggaaccgctgc
ttcctggacagtgcctttgtcaggaacaacaacctgaccttcctgcggccgtactaccag
acggaggagggcgaggagaacccgttcatctgctcctcacgccgagacaacggcatgcag
aagtgctcgcacatccccggccgccgcgagctgcgcatgccctgcaccctgggctgggag
gcctacacgcagccgcaggccgagggggtgggcgctgcacgcaacgcctgcatcaactgg
aaccagtactacaacgtgtgccgctcgggtgactccaacccccacaacggtgccatcaac
ttcgacaacatcggctacgcctggattgccatcttccaggtgatcacgctggaaggctgg
gtggacatcatgtactacgtcatggacgcccactcattctacaacttcatctatttcatc
ctgctcatcatcgtgggctccttcttcatgatcaacctgtgcctggtggtgattgccacg
cagttctcggagacgaagcagcgggagagtcagctgatgcgggagcagcgggcacgccac
ctgtccaacgacagcacgctggccagcttctccgagcctggcagctgctacgaagagctg
ctgaagtacgtgggccacatattccgcaaggtcaagcggcgcagcttgcgcctctacgcc
cgctggcagagccgctggcgcaagaaggtggaccccagtgctgtgcaaggccagggtccc
gggcaccgccagcgccgggcaggcaggcacacagcctcggtgcaccacctggtctaccac
caccatcaccaccaccaccaccactaccatttcagccatggcagcccccgcaggcccggc
cccgagccaggcgcctgcgacaccaggctggtccgagctggcgcgcccccctcgccacct
tccccaggccgcggaccccccgacgcagagtctgtgcacagcatctaccatgccgactgc
cacatagaggggccgcaggagagggcccgggtggcacatgccgcagccactgccgctgcc
agcctcagactggccacagggctgggcaccatgaactaccccacgatcctgccctcaggg
gtgggcagcggcaaaggcagcaccagccccggacccaaggggaagtgggccggtggaccg
ccaggcaccggggggcacggcccgttgagcttgaacagccctgatccctacgagaagatc
ccgcatgtggtcggggagcatggactgggccaggcccctggccatctgtcgggcctcagt
gtgccctgccccctgcccagccccccagcgggcacactgacctgtgagctgaagagctgc
ccgtactgcacccgtgccctggaggacccggagggtgagctcagcggctcggaaagtgga
gactcagatggccgtggcgtctatgaattcacgcaggacgtccggcacggtgaccgctgg
gaccccacgcgaccaccccgtgcgacggacacaccaggcccaggcccaggcagcccccag
cggcgggcacagcagagggcagccccgggcgagccaggctggatgggccgcctctgggtt
accttcagcggcaagctgcgccgcatcgtggacagcaagtacttcagccgtggcatcatg
atggccatccttgtcaacacgctgagcatgggcgtggagtaccatgagcagcccgaggag
ctgactaatgctctggagatcagcaacatcgtgttcaccagcatgtttgccctggagatg
ctgctgaagctgctggcctgcggccctctgggctacatccggaacccgtacaacatcttc
gacggcatcatcgtggtcatcagcgtctgggagatcgtggggcaggcggacggtggcttg
tctgtgctgcgcaccttccggctgctgcgtgtgctgaagctggtgcgctttctgccagcc
ctgcggcgccagctcgtggtgctggtgaagaccatggacaacgtggctaccttctgcacg
ctgctcatgctcttcattttcatcttcagcatcctgggcatgcaccttttcggctgcaag
ttcagcctgaagacagacaccggagacaccgtgcctgacaggaagaacttcgactccctg
ctgtgggccatcgtcaccgtgttccagatcctgacccaggaggactggaacgtggtcctg
tacaacggcatggcctccacctcctcctgggccgccctctacttcgtggccctcatgacc
ttcggcaactatgtgctcttcaacctgctggtggccatcctcgtggagggcttccaggcg
gagggcgatgccaacagatccgacacggacgaggacaagacgtcggtccacttcgaggag
gacttccacaagctcagagaactccagaccacagagctgaagatgtgttccctggccgtg
acccccaacgggcacctggagggacgaggcagcctgtcccctcccctcatcatgtgcaca
gctgccacgcccatgcctacccccaagagctcaccattcctggatgcagcccccagcctc
ccagactctcggcgtggcagcagcagctccggggacccgccactgggagaccagaagcct
ccggccagcctccgaagttctccctgtgccccctggggccccagtggcgcctggagcagc
cggcgctccagctggagcagcctgggccgtgcccccagcctcaagcgccgcggccagtgt
ggggaacgtgagtccctgctgtctggcgagggcaagggcagcaccgacgacgaagctgag
gacggcagggccgcgcccgggccccgtgccaccccactgcggcgggccgagtccctggac
ccacggcccctgcggccggccgccctcccgcctaccaagtgccgcgatcgcgacgggcag
gtggtggccctgcccagcgacttcttcctgcgcatcgacagccaccgtgaggatgcagcc
gagcttgacgacgactcggaggacagctgctgcctccgcctgcataaagtgctggagccc
tacaagccccagtggtgccggagccgcgaggcctgggccctctacctcttctccccacag
aaccggttccgcgtctcctgccagaaggtcatcacacacaagatgtttgatcacgtggtc
ctcgtcttcatcttcctcaactgcgtcaccatcgccctggagaggcctgacattgatccc
ggcagcaccgagcgggtcttcctcagcgtctccaattacatcttcacggccatcttcgtg
gcggagatgatggtgaaggtggtggccctggggctgctgtccggcgagcacgcctacctg
cagagcagctggaacctgctggatgggctgctggtgctggtgtccctggtggacattgtc
gtggccatggcctcggctggtggcgccaagatcctgggtgttctgcgcgtgctgcgtctg
ctgcggaccctgcggcctctgagggtcatcagccgggccccgggcctcaagctggtggtg
gagacgctgatatcatcactcaggcccattgggaacatcgtcctcatctgctgcgccttc
ttcatcatttttggcattttgggtgtgcagctcttcaaagggaagttctactactgcgag
ggccccgacaccaggaacatctccaccaaggcacagtgccgggccgcccactaccgctgg
gtgcgacgcaagtacaacttcgacaacctgggccaggccctgatgtcgctgttcgtgctg
tcatccaaggatggatgggtgaacatcatgtacgacgggctggatgccgtgggtgtcgac
cagcagcctgtgcagaaccacaacccctggatgctgctgtacttcatctccttcctgctc
atcgtcagcttcttcgtgctcaacatgttcgtgggcgtcgtggtcgagaacttccacaag
tgccggcagcaccaggaggcggaggaggcgcggcggcgagaggagaagcggctgcggcgc
ctagagaggaggcgcaggagcactttccccagcccagaggcccagcgccggccctactat
gccgactactcgcccacgcgccgctccattcactcgctgtgcaccagccactatctcgac
ctcttcatcaccttcatcatctgtgtcaacgtcatcaccatgtccatggagcactataac
caacccaagtcgctggacgaggccctcaagtactgcaactacgtcttcaccatcgtgttt
gtcttcgaggctgcactgaagctggtagcatttgggttccgtcggttcttcaaggacagg
tggaaccagctggacctggccatcgtgctgctgtcactcatgggcatcacgctggaggag
atagagatgagcgccgcgctgcccatcaaccccaccatcatccgcatcatgcgcgtgctt
cgcattgcccgtgtgctgaagctgctgaagatggctacgggcatgcgcgccctgctggac
actgtggtgcaagctctcccccaggtggggaacctgggccttcttttcatgctcctgttt
tttatctatgctgcgctgggagtggagctgttcgggaggctggagtgcagtgaagacaac
ccctgcgagggcctgagcaggcacgccaccttcagcaacttcggcatggccttcctcacg
ctgttccgcgtgtccacgggggacaactggaacgggatcatgaaggacacgctgcgcgag
tgctcccgtgaggacaagcactgcctgagctacctgccggccctgtcgcccgtctacttc
gtgaccttcgtgctggtggcccagttcgtgctggtgaacgtggtggtggccgtgctcatg
aagcacctggaggagagcaacaaggaggcacgggaggatgcggagctggacgccgagatc
gagctggagatggcgcagggccccgggagtgcacgccgggtggacgcggacaggcctccc
ttgccccaggagagtccgggcgccagggacgccccaaacctggttgcacgcaaggtgtcc
gtgtccaggatgctctcgctgcccaacgacagctacatgttcaggcccgtggtgcctgcc
tcggcgccccacccccgcccgctgcaggaggtggagatggagacctatggggccggcacc
cccttgggctccgttgcctctgtgcactctccgcccgcagagtcctgtgcctccctccag
atcccattggctgtgtcgtccccagccaggagcggcgagcccctccacgccctgtcccct
cggggcacagcccgctcccccagtctcagccggctgctctgcagacaggaggctgtgcac
accgattccttggaagggaagattgacagccctagggacaccctggatcctgcagagcct
ggtgagaaaaccccggtgaggccggtgacccaggggggctccctgcagtccccaccacgc
tccccacggcccgccagcgtccgcactcgtaagcataccttcggacagcgctgcgtctcc
agccggccggcggccccaggcggagaggaggccgaggcctcggacccagccgacgaggag
gtcagccacatcaccagctccgcctgcccctggcagcccacagccgagccccatggcccc
gaagcctctccggtggccggcggcgagcgggacctgcgcaggctctacagcgtggatgct
cagggcttcctggacaagccgggccgggcagacgagcagtggcggccctcggcggagctg
ggcagcggggagcctggggaggcgaaggcctggggccctgaggccgagcccgctctgggt
gcgcgcagaaagaagaagatgagccccccctgcatctcggtggaaccccctgcggaggac
gagggctctgcgcggccctccgcggcagagggcggcagcaccacactgaggcgcaggacc
ccgtcctgtgaggccacgcctcacagggactccctggagcccacagagggctcaggcgcc
gggggggaccctgcagccaagggggagcgctggggccaggcctcctgccgggctgagcac
ctgaccgtccccagctttgcctttgagccgctggacctcggggtccccagtggagaccct
ttcttggacggtagccacagtgtgaccccagaatccagagcttcctcttcaggggccata
gtgcccctggaacccccagaatcagagcctcccatgcccgtcggtgaccccccagagaag
aggcgggggctgtacctcacagtcccccagtgtcctctggagaaaccagggtccccctca
gccacccctgccccagggggtggtgcagatgaccccgtgtag

KEGG   Homo sapiens (human): 8911
Entry
8911              CDS       T01001                                 

Gene name
CACNA1I, Cav3.3, ca(v)3.3
Definition
(RefSeq) calcium voltage-gated channel subunit alpha1 I
  KO
K04856  voltage-dependent calcium channel T type alpha-1I
Organism
hsa  Homo sapiens (human)
Pathway
hsa04010  MAPK signaling pathway
hsa04020  Calcium signaling pathway
hsa04713  Circadian entrainment
hsa04925  Aldosterone synthesis and secretion
hsa04927  Cortisol synthesis and secretion
hsa04929  GnRH secretion
hsa04934  Cushing syndrome
Network
nt06410  Calcium signaling
nt06460  Alzheimer disease
nt06461  Huntington disease
nt06462  Spinocerebellar ataxia
nt06463  Parkinson disease
nt06465  Prion disease
  Element
N00967  VGCC-Ca2+ -apoptotic pathway
Drug target
Bepridil (DG00333): D00631<JP> D07520
Ethosuximide: D00539<JP/US>
Flunarizine (DG01006): D01303 D07971
Lomerizine hydrochloride: D02633<JP>
Mesuximide: D00404<US>
Mibefradil (DG00328): D05024 D08217
Penfluridol: D02630
Suvecaltamide (DG03155): D12061 D12062
Valproic acid (DG00849): D00304<US> D00399<US> D00710<JP/US> D08667
Zonisamide: D00538<JP/US>
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04010 MAPK signaling pathway
    8911 (CACNA1I)
   04020 Calcium signaling pathway
    8911 (CACNA1I)
 09150 Organismal Systems
  09152 Endocrine system
   04929 GnRH secretion
    8911 (CACNA1I)
   04925 Aldosterone synthesis and secretion
    8911 (CACNA1I)
   04927 Cortisol synthesis and secretion
    8911 (CACNA1I)
  09159 Environmental adaptation
   04713 Circadian entrainment
    8911 (CACNA1I)
 09160 Human Diseases
  09167 Endocrine and metabolic disease
   04934 Cushing syndrome
    8911 (CACNA1I)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04040 Ion channels [BR:hsa04040]
    8911 (CACNA1I)
Ion channels [BR:hsa04040]
 Voltage-gated cation channels
  Calcium channel, voltage-gated (Cav)
   8911 (CACNA1I)
SSDB
Motif
Pfam: Ion_trans PKD_channel
Other DBs
NCBI-GeneID: 8911
NCBI-ProteinID: NP_066919
OMIM: 608230
HGNC: 1396
Ensembl: ENSG00000100346
Vega: OTTHUMG00000151096
Pharos: Q9P0X4(Tclin)
UniProt: Q9P0X4
LinkDB
Position
22q13.1
AA seq 2223 aa
MAESASPPSSSAAAPAAEPGVTTEQPGPRSPPSSPPGLEEPLDGADPHVPHPDLAPIAFF
CLRQTTSPRNWCIKMVCNPWFECVSMLVILLNCVTLGMYQPCDDMDCLSDRCKILQVFDD
FIFIFFAMEMVLKMVALGIFGKKCYLGDTWNRLDFFIVMAGMVEYSLDLQNINLSAIRTV
RVLRPLKAINRVPSMRILVNLLLDTLPMLGNVLLLCFFVFFIFGIIGVQLWAGLLRNRCF
LEENFTIQGDVALPPYYQPEEDDEMPFICSLSGDNGIMGCHEIPPLKEQGRECCLSKDDV
YDFGAGRQDLNASGLCVNWNRYYNVCRTGSANPHKGAINFDNIGYAWIVIFQVITLEGWV
EIMYYVMDAHSFYNFIYFILLIIVGSFFMINLCLVVIATQFSETKQREHRLMLEQRQRYL
SSSTVASYAEPGDCYEEIFQYVCHILRKAKRRALGLYQALQSRRQALGPEAPAPAKPGPH
AKEPRHYHGKTKGQGDEGRHLGSRHCQTLHGPASPGNDHSGRELCPQHSPLDATPHTLVQ
PIPATLASDPASCPCCQHEDGRRPSGLGSTDSGQEGSGSGSSAGGEDEADGDGARSSEDG
ASSELGKEEEEEEQADGAVWLCGDVWRETRAKLRGIVDSKYFNRGIMMAILVNTVSMGIE
HHEQPEELTNILEICNVVFTSMFALEMILKLAAFGLFDYLRNPYNIFDSIIVIISIWEIV
GQADGGLSVLRTFRLLRVLKLVRFMPALRRQLVVLMKTMDNVATFCMLLMLFIFIFSILG
MHIFGCKFSLRTDTGDTVPDRKNFDSLLWAIVTVFQILTQEDWNVVLYNGMASTSPWASL
YFVALMTFGNYVLFNLLVAILVEGFQAEGDANRSYSDEDQSSSNIEEFDKLQEGLDSSGD
PKLCPIPMTPNGHLDPSLPLGGHLGPAGAAGPAPRLSLQPDPMLVALGSRKSSVMSLGRM
SYDQRSLSSSRSSYYGPWGRSAAWASRRSSWNSLKHKPPSAEHESLLSAERGGGARVCEV
AADEGPPRAAPLHTPHAHHIHHGPHLAHRHRHHRRTLSLDNRDSVDLAELVPAVGAHPRA
AWRAAGPAPGHEDCNGRMPSIAKDVFTKMGDRGDRGEDEEEIDYTLCFRVRKMIDVYKPD
WCEVREDWSVYLFSPENRFRVLCQTIIAHKLFDYVVLAFIFLNCITIALERPQIEAGSTE
RIFLTVSNYIFTAIFVGEMTLKVVSLGLYFGEQAYLRSSWNVLDGFLVFVSIIDIVVSLA
SAGGAKILGVLRVLRLLRTLRPLRVISRAPGLKLVVETLISSLKPIGNIVLICCAFFIIF
GILGVQLFKGKFYHCLGVDTRNITNRSDCMAANYRWVHHKYNFDNLGQALMSLFVLASKD
GWVNIMYNGLDAVAVDQQPVTNHNPWMLLYFISFLLIVSFFVLNMFVGVVVENFHKCRQH
QEAEEARRREEKRLRRLEKKRRKAQRLPYYATYCHTRLLIHSMCTSHYLDIFITFIICLN
VVTMSLEHYNQPTSLETALKYCNYMFTTVFVLEAVLKLVAFGLRRFFKDRWNQLDLAIVL
LSVMGITLEEIEINAALPINPTIIRIMRVLRIARVLKLLKMATGMRALLDTVVQALPQVG
NLGLLFMLLFFIYAALGVELFGKLVCNDENPCEGMSRHATFENFGMAFLTLFQVSTGDNW
NGIMKDTLRDCTHDERSCLSSLQFVSPLYFVSFVLTAQFVLINVVVAVLMKHLDDSNKEA
QEDAEMDAELELEMAHGLGPGPRLPTGSPGAPGRGPGGAGGGGDTEGGLCRRCYSPAQEN
LWLDSVSLIIKDSLEGELTIIDNLSGSIFHHYSSPAGCKKCHHDKQEVQLAETEAFSLNS
DRSSSILLGDDLSLEDPTACPPGRKDSKGELDPPEPMRVGDLGECFFPLSSTAVSPDPEN
FLCEMEEIPFNPVRSWLKHDSSQAPPSPFSPDASSPLLPMPAEFFHPAVSASQKGPEKGT
GTGTLPKIALQGSWASLRSPRVNCTLLRQATGSDTSLDASPSSSAGSLQTTLEDSLTLSD
SPRRALGPPAPAPGPRAGLSPAARRRLSLRGRGLFSLRGLRAHQRSHSSGGSTSPGCTHH
DSMDPSDEEGRGGAGGGGAGSEHSETLSSLSLTSLFCPPPPPPAPGLTPARKFSSTSSLA
APGRPHAAALAHGLARSPSWAADRSKDPPGRAPLPMGLGPLAPPPQPLPGELEPGDAASK
RKR
NT seq 6672 nt   +upstreamnt  +downstreamnt
atggctgagagcgcctccccgccctcctcatctgcagcagccccagccgctgagccagga
gtcaccacggagcagcccggaccccggagccccccatcctccccgccaggcctggaggag
cctctggatggagctgatcctcatgtcccacacccagacctggcgcctattgccttcttc
tgcctgcgacagaccaccagcccccggaactggtgcatcaagatggtgtgcaacccgtgg
tttgaatgtgtcagcatgctggtgatcctgctgaactgcgtgacacttggcatgtaccag
ccgtgcgacgacatggactgcctgtccgaccgctgcaagatcctgcaggtctttgatgac
ttcatctttatcttctttgccatggagatggtgctcaagatggtggccctggggattttt
ggcaagaagtgctacctcggggacacatggaaccgcctggatttcttcatcgtcatggca
gggatggtcgagtactccctggaccttcagaacatcaacctgtcagccatccgcaccgtg
cgcgtcctgaggcccctcaaagccatcaaccgcgtgcccagtatgcggatcctggtgaac
ctgctcctggacacactgcccatgctggggaatgtcctgctgctctgcttctttgtcttc
ttcatctttggcatcataggtgtgcagctctgggcgggcctgctgcgtaaccgctgcttc
ctggaggagaacttcaccatacaaggggatgtggccttgcccccatactaccagccggag
gaggatgatgagatgcccttcatctgctccctgtcgggcgacaatgggataatgggctgc
catgagatccccccgctcaaggagcagggccgtgagtgctgcctgtccaaggacgacgtc
tacgactttggggcggggcgccaggacctcaatgccagcggcctctgtgtcaactggaac
cgttactacaatgtgtgccgcacgggcagcgccaacccccacaagggtgccatcaacttt
gacaacatcggttatgcttggattgtcatcttccaggtgatcactctggaaggctgggtg
gagatcatgtactacgtgatggatgctcactccttctacaacttcatctacttcatcctg
cttatcatagtgggctccttcttcatgatcaacctgtgcctcgttgtcatagcgacccag
ttctcggagaccaagcaacgggagcaccggctgatgctggagcagcggcagcgctacctg
tcctccagcacggtggccagctacgccgagcctggcgactgctacgaggagatcttccag
tatgtctgccacatcctgcgcaaggccaagcgccgcgccctgggcctctaccaggccctg
cagagccggcgccaggccctgggcccggaggccccggcccccgccaaacctgggccccac
gccaaggagccccggcactaccatgggaagactaagggtcagggagatgaagggagacat
ctcggaagccggcattgccagactttgcatgggcctgcctcccctggaaatgatcactcg
ggaagagagctgtgcccgcaacatagccccctggatgcgacgccccacaccctggtgcag
cccatccccgccacgctggcttccgatcccgccagctgcccttgctgccagcatgaggac
ggccggcggccctcgggcctgggcagcaccgactcgggccaggagggctcgggctccggg
agctccgctggtggcgaggacgaggcggatggggacggggcccggagcagcgaggacgga
gcctcctcagaactggggaaggaggaggaggaggaggagcaggcggatggggcggtctgg
ctgtgcggggatgtgtggcgggagacgcgagccaagctgcgcggcatcgtggacagcaag
tacttcaaccggggcatcatgatggccatcctggtcaacaccgtcagcatgggcatcgag
caccacgagcagccggaggagctgaccaacatcctggagatctgcaatgtggtcttcacc
agcatgtttgccctggagatgatcctgaagctggctgcatttgggctcttcgactacctg
cgtaacccctacaacatcttcgacagcatcattgtcatcatcagcatctgggagattgtg
gggcaggcggacggtgggctgtcggtgctgcggaccttccggctgctgcgcgtgctgaaa
ctggtgcgcttcatgcctgccctgcggcgccagctcgtggtgctcatgaagaccatggac
aacgtggccaccttctgcatgctgctcatgctcttcatcttcatcttcagcatccttggg
atgcatatttttggctgcaagttcagcctccgcacggacactggagacacggtgcccgac
aggaagaacttcgactccctgctgtgggccatcgtcactgtgttccagatcctcacccag
gaggactggaacgtcgttctctacaatggcatggcctccacttctccctgggcctccctc
tactttgtcgccctcatgaccttcggcaactatgtgctcttcaacctgctggtggccatc
ctggtggagggcttccaggcggagggtgacgccaatcgctcctactcggacgaggaccag
agctcatccaacatagaagagtttgataagctccaggaaggcctggacagcagcggagat
cccaagctctgcccaatccccatgacccccaatgggcacctggaccccagtctcccactg
ggtgggcacctaggtcctgctggggctgcgggacctgccccccgactctcactgcagccg
gaccccatgctggtggccctgggctcccgaaagagcagtgtcatgtctctagggaggatg
agctatgaccagcgctccctgtccagctcccggagctcctactacgggccatggggccgc
agcgcggcctgggccagccgtcgctccagctggaacagcctcaagcacaagccgccgtcg
gcggagcatgagtccctgctctctgcggagcgcggcggcggcgcccgggtctgcgaggtt
gccgcggacgaggggccgccgcgggccgcacccctgcacaccccacacgcccaccacatt
catcacgggccccatctggcgcaccgccaccgccaccaccgccggacgctgtccctcgac
aacagggactcggtggacctggccgagctggtgcccgcggtgggcgcccacccccgggcc
gcctggagggcggcaggcccggcccccgggcatgaggactgcaatggcaggatgcccagc
atcgccaaagacgtcttcaccaagatgggcgaccgcggggatcgcggggaggatgaggag
gaaatcgactacaccctgtgcttccgcgtccgcaagatgatcgacgtctataagcccgac
tggtgcgaggtccgcgaagactggtctgtctacctcttctctcccgagaacaggttccgg
gtcctgtgtcagaccattattgcccacaaactcttcgactacgtcgtcctggccttcatc
tttctcaactgcatcaccatcgccctggagcggcctcagatcgaggccggcagcaccgaa
cgcatctttctcaccgtgtccaactacatcttcacggccatcttcgtgggcgagatgaca
ttgaaggtagtctcgctgggcctgtacttcggcgagcaggcgtacctacgcagcagctgg
aacgtgctggatggctttcttgtcttcgtgtccatcatcgacatcgtggtgtccctggcc
tcagccgggggagccaagatcttgggggtcctccgagtcttgcggctcctgcgcacccta
cgccccctgcgtgtcatcagccgggcgccgggcctgaagctggtggtggagacactcatc
tcctccctcaagcccatcggcaacatcgtgctcatctgctgtgccttcttcatcatcttt
ggcatcctgggagtgcagctcttcaagggcaagttctaccactgtctgggcgtggacacc
cgcaacatcaccaaccgctcggactgcatggccgccaactaccgctgggtccatcacaaa
tacaacttcgacaacctgggccaggctctgatgtccctctttgtcctggcatccaaggat
ggttgggtgaacatcatgtacaatggactggatgctgttgctgtggaccagcagcctgtg
accaaccacaacccctggatgctgctgtacttcatctccttcctgctcatcgtcagcttc
tttgtgctcaacatgtttgtgggtgtcgtggtggagaacttccacaagtgccggcagcac
caggaggctgaagaggcacggcggcgtgaggagaagcggctgcggcgcctggagaagaag
cgccggaaggcccagcggctgccctactatgccacctattgtcacacccggctgctcatc
cactccatgtgcaccagccactacctggacatcttcatcaccttcatcatctgcctcaac
gtggtcaccatgtccctggagcactacaatcagcccacgtccctggagacagccctcaag
tactgcaactatatgttcaccactgtctttgtgctggaggctgtgctgaagctggtggca
tttggtctgaggcgcttcttcaaggaccgatggaaccagctggacctggccattgtgcta
ctgtcagtcatgggcatcaccctggaggagatcgagatcaatgcggccctgcccatcaat
cccaccatcatccgcatcatgagggttctgcgcattgcccgagtgctgaagctgttgaag
atggccacaggaatgcgggccctgctggacacggtggtgcaagctttgccccaggtgggc
aacctgggcctcctcttcatgctgctcttcttcatctatgctgctctcggggtggagctc
tttgggaagctggtctgcaacgacgagaacccgtgcgagggcatgagccggcatgccacc
ttcgagaacttcggcatggccttcctcacactcttccaggtctccacgggtgacaactgg
aacgggatcatgaaggacacgctgcgggactgcacccacgacgagcgcagctgcctgagc
agcctgcagtttgtgtcgccgctgtacttcgtgagcttcgtgctcaccgcgcagttcgtg
ctcatcaacgtggtggtggctgtgctcatgaagcacctggacgacagcaacaaggaggcg
caggaggacgccgagatggatgccgagctcgagctggagatggcccatggcctgggccct
ggcccgaggctgcctaccggctccccgggcgcccctggccgagggccgggaggggcgggc
ggcgggggcgacaccgagggcggcttgtgccggcgctgctactcgcctgcccaggagaac
ctgtggctggacagcgtctctttaatcatcaaggactccttggagggggagctgaccatc
atcgacaacctgtcgggctccatcttccaccactactcctcgcctgccggctgcaagaag
tgtcaccacgacaagcaagaggtgcagctggctgagacggaggccttctccctgaactca
gacaggtcctcgtccatcctgctgggtgacgacctgagtctcgaggaccccacagcctgc
ccacctggccgcaaagacagcaagggtgagctggacccacctgagcccatgcgtgtggga
gacctgggcgaatgcttcttccccttgtcctctacggccgtctcgccggatccagagaac
ttcctgtgtgagatggaggagatcccattcaaccctgtccggtcctggctgaaacatgac
agcagtcaagcacccccaagtcccttctccccggatgcctccagccctctcctgcccatg
ccagccgagttcttccaccctgcagtgtctgccagccagaaaggcccagaaaagggcact
ggcactggaaccctccccaagattgcgctgcagggctcctgggcatctctgcggtcacca
agggtcaactgtaccctcctccggcaggccaccgggagcgacacgtcgctggacgccagc
cccagcagctccgcgggcagcctgcagaccacgctcgaggacagcctgaccctgagcgac
agcccccggcgtgccctggggccgcccgcgcctgctccaggaccccgggccggcctgtcc
cccgccgctcgccgccgcctgagcctgcgcggccggggcctcttcagcctgcgggggctg
cgggcgcatcagcgcagccacagcagcgggggctccaccagcccgggctgcacccaccac
gactccatggacccctcggacgaggagggccgcggtggcgcgggcggcgggggcgcgggc
agcgagcactcggagaccctcagcagcctctcgctcacctccctcttctgcccgccgccc
ccgccgccagcccccggcctcacgcccgccaggaagttcagcagcaccagcagcctggcc
gcccccggccgcccccacgccgccgccctggcccacggcctggcccggagcccctcgtgg
gccgcggaccgcagcaaggacccccccggccgggcaccgctgcccatgggcctgggcccc
ttggcgcccccgccgcaaccgctccccggagagctggagccgggagacgccgccagcaag
aggaagagatga

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