Entry |
|
Symbol |
CACNA1C, CACH2, CACN2, CACNA1C-IT2, CACNL1A1, CCHL1A1, CaV1.2, LQT8, NEDHLSS, TS, TS._LQT8
|
Name |
(RefSeq) calcium voltage-gated channel subunit alpha1 C
|
KO |
K04850 | voltage-dependent calcium channel L type alpha-1C |
|
Organism |
|
Pathway |
hsa04261 | Adrenergic signaling in cardiomyocytes |
hsa04270 | Vascular smooth muscle contraction |
hsa04723 | Retrograde endocannabinoid signaling |
hsa04925 | Aldosterone synthesis and secretion |
hsa04927 | Cortisol synthesis and secretion |
hsa04935 | Growth hormone synthesis, secretion and action |
hsa05022 | Pathways of neurodegeneration - multiple diseases |
hsa05207 | Chemical carcinogenesis - receptor activation |
hsa05412 | Arrhythmogenic right ventricular cardiomyopathy |
|
Network |
|
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 |
N01637 | Ca2+ entry, Voltage-gated Ca2+ channel |
N01639 | Cardiac-type VGCC-RYR signaling |
N01649 | Ca2+/CAM-VGCC/RYR signaling pathway |
|
Disease |
H02397 | Neurodevelopmental disorder with movement abnormalities or hypotonia |
|
Drug target |
Kirenidipine hydrochloride: | D09789 |
Levosemotiadil fumarate: | D09833 |
Tamolarizine hydrochloride: | D11102 |
Tiapamil hydrochloride: | D06129 |
Vatanidipine hydrochloride: | D01933 |
|
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 |
|
Other DBs |
|
Structure |
|
LinkDB |
|
Position |
12:1970780..2697950
|
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 |