KEGG   Homo sapiens (human): 3708
Entry
3708              CDS       T01001                                 
Symbol
ITPR1, ACV, CLA4, INSP3R1, IP3R, IP3R1, PPP1R94, SCA15, SCA16, SCA29
Name
(RefSeq) inositol 1,4,5-trisphosphate receptor type 1
  KO
K04958  inositol 1,4,5-triphosphate receptor type 1
Organism
hsa  Homo sapiens (human)
Pathway
hsa04020  Calcium signaling pathway
hsa04022  cGMP-PKG signaling pathway
hsa04070  Phosphatidylinositol signaling system
hsa04114  Oocyte meiosis
hsa04140  Autophagy - animal
hsa04210  Apoptosis
hsa04218  Cellular senescence
hsa04270  Vascular smooth muscle contraction
hsa04371  Apelin signaling pathway
hsa04380  Osteoclast differentiation
hsa04540  Gap junction
hsa04611  Platelet activation
hsa04621  NOD-like receptor signaling pathway
hsa04625  C-type lectin receptor signaling pathway
hsa04713  Circadian entrainment
hsa04720  Long-term potentiation
hsa04723  Retrograde endocannabinoid signaling
hsa04724  Glutamatergic synapse
hsa04725  Cholinergic synapse
hsa04726  Serotonergic synapse
hsa04728  Dopaminergic synapse
hsa04730  Long-term depression
hsa04750  Inflammatory mediator regulation of TRP channels
hsa04912  GnRH signaling pathway
hsa04915  Estrogen signaling pathway
hsa04918  Thyroid hormone synthesis
hsa04921  Oxytocin signaling pathway
hsa04922  Glucagon signaling pathway
hsa04924  Renin secretion
hsa04925  Aldosterone synthesis and secretion
hsa04927  Cortisol synthesis and secretion
hsa04928  Parathyroid hormone synthesis, secretion and action
hsa04929  GnRH secretion
hsa04934  Cushing syndrome
hsa04935  Growth hormone synthesis, secretion and action
hsa04970  Salivary secretion
hsa04971  Gastric acid secretion
hsa04972  Pancreatic secretion
hsa05010  Alzheimer disease
hsa05012  Parkinson disease
hsa05016  Huntington disease
hsa05017  Spinocerebellar ataxia
hsa05020  Prion disease
hsa05022  Pathways of neurodegeneration - multiple diseases
hsa05131  Shigellosis
hsa05163  Human cytomegalovirus infection
hsa05167  Kaposi sarcoma-associated herpesvirus infection
hsa05170  Human immunodeficiency virus 1 infection
hsa05205  Proteoglycans in cancer
hsa05417  Lipid and atherosclerosis
Network
nt06183  Yersinia
nt06460  Alzheimer disease
nt06461  Huntington disease
nt06462  Spinocerebellar ataxia
nt06463  Parkinson disease
nt06464  Amyotrophic lateral sclerosis
nt06465  Prion disease
nt06466  Pathways of neurodegeneration
nt06528  Calcium signaling
nt06537  TCR/BCR signaling
  Element
N00953  mGluR1-TRPC3 signaling pathway
N00954  Mutation-activated GRM1 to mGluR1-TRPC3 signaling pathway
N00955  Mutation-inactivated PRKCG to mGluR1-TRPC3 signaling pathway
N00956  Mutation-activated PRKCG to mGluR1-TRPC3 signaling pathway
N00957  Mutation-caused abberant ATXN2/3 to mGluR5-Ca2+ -apoptotic pathway
N00958  Mutation-activated ITPR1 to mGluR1-TRPC3 signaling pathway
N00959  ITPR1-reduced expression to mGluR1-TRPC3 signaling pathway
N00960  Mutation-caused aberrant SPTBN2 to mGluR1-TRPC3 signaling pathway
N00965  RORA-mediated transcription
N00966  Mutation-caused aberrant ATXN1 to RORA-mediated transcription
N00984  mGluR5-Ca2+ -apoptotic pathway
N00985  Mutation-caused aberrant Htt to mGluR5-Ca2+ -apoptotic pathway
N01000  mAChR-Ca2+ -apoptotic pathway
N01001  Mutation-caused aberrant Abeta to mAchR-Ca2+ -apoptotic pathway
N01002  Mutation-caused aberrant Abeta to mGluR5-Ca2+ -apoptotic pathway
N01008  Mutation-caused aberrant PSEN1 to mGluR5-Ca2+ -apoptotic pathway
N01032  Mutation-inactivated PRKN to mGluR1 signaling pathway
N01106  TCR-PLCG-ITPR signaling pathway
N01151  Mutation-inactivated SIGMAR1 to Ca2+ -apoptotic pathway
N01199  Scrapie conformation PrPSc to mGluR5-Ca2+ -apoptotic pathway
N01640  GPCR-PLCB-ITPR signaling pathway
N01641  RTK-PLCG-ITPR signaling pathway
N01655  Ca2+-PLCD-ITPR signaling pathway
Disease
H00063  Spinocerebellar ataxia (SCA)
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04371 Apelin signaling pathway
    3708 (ITPR1)
   04020 Calcium signaling pathway
    3708 (ITPR1)
   04070 Phosphatidylinositol signaling system
    3708 (ITPR1)
   04022 cGMP-PKG signaling pathway
    3708 (ITPR1)
 09140 Cellular Processes
  09141 Transport and catabolism
   04140 Autophagy - animal
    3708 (ITPR1)
  09143 Cell growth and death
   04114 Oocyte meiosis
    3708 (ITPR1)
   04210 Apoptosis
    3708 (ITPR1)
   04218 Cellular senescence
    3708 (ITPR1)
  09144 Cellular community - eukaryotes
   04540 Gap junction
    3708 (ITPR1)
 09150 Organismal Systems
  09151 Immune system
   04611 Platelet activation
    3708 (ITPR1)
   04621 NOD-like receptor signaling pathway
    3708 (ITPR1)
   04625 C-type lectin receptor signaling pathway
    3708 (ITPR1)
  09152 Endocrine system
   04922 Glucagon signaling pathway
    3708 (ITPR1)
   04929 GnRH secretion
    3708 (ITPR1)
   04912 GnRH signaling pathway
    3708 (ITPR1)
   04915 Estrogen signaling pathway
    3708 (ITPR1)
   04921 Oxytocin signaling pathway
    3708 (ITPR1)
   04935 Growth hormone synthesis, secretion and action
    3708 (ITPR1)
   04918 Thyroid hormone synthesis
    3708 (ITPR1)
   04928 Parathyroid hormone synthesis, secretion and action
    3708 (ITPR1)
   04924 Renin secretion
    3708 (ITPR1)
   04925 Aldosterone synthesis and secretion
    3708 (ITPR1)
   04927 Cortisol synthesis and secretion
    3708 (ITPR1)
  09153 Circulatory system
   04270 Vascular smooth muscle contraction
    3708 (ITPR1)
  09154 Digestive system
   04970 Salivary secretion
    3708 (ITPR1)
   04971 Gastric acid secretion
    3708 (ITPR1)
   04972 Pancreatic secretion
    3708 (ITPR1)
  09156 Nervous system
   04724 Glutamatergic synapse
    3708 (ITPR1)
   04725 Cholinergic synapse
    3708 (ITPR1)
   04728 Dopaminergic synapse
    3708 (ITPR1)
   04726 Serotonergic synapse
    3708 (ITPR1)
   04720 Long-term potentiation
    3708 (ITPR1)
   04730 Long-term depression
    3708 (ITPR1)
   04723 Retrograde endocannabinoid signaling
    3708 (ITPR1)
  09157 Sensory system
   04750 Inflammatory mediator regulation of TRP channels
    3708 (ITPR1)
  09158 Development and regeneration
   04380 Osteoclast differentiation
    3708 (ITPR1)
  09159 Environmental adaptation
   04713 Circadian entrainment
    3708 (ITPR1)
 09160 Human Diseases
  09161 Cancer: overview
   05205 Proteoglycans in cancer
    3708 (ITPR1)
  09172 Infectious disease: viral
   05170 Human immunodeficiency virus 1 infection
    3708 (ITPR1)
   05163 Human cytomegalovirus infection
    3708 (ITPR1)
   05167 Kaposi sarcoma-associated herpesvirus infection
    3708 (ITPR1)
  09171 Infectious disease: bacterial
   05131 Shigellosis
    3708 (ITPR1)
  09164 Neurodegenerative disease
   05010 Alzheimer disease
    3708 (ITPR1)
   05012 Parkinson disease
    3708 (ITPR1)
   05016 Huntington disease
    3708 (ITPR1)
   05017 Spinocerebellar ataxia
    3708 (ITPR1)
   05020 Prion disease
    3708 (ITPR1)
   05022 Pathways of neurodegeneration - multiple diseases
    3708 (ITPR1)
  09166 Cardiovascular disease
   05417 Lipid and atherosclerosis
    3708 (ITPR1)
  09167 Endocrine and metabolic disease
   04934 Cushing syndrome
    3708 (ITPR1)
 09180 Brite Hierarchies
  09181 Protein families: metabolism
   01009 Protein phosphatases and associated proteins [BR:hsa01009]
    3708 (ITPR1)
  09183 Protein families: signaling and cellular processes
   04040 Ion channels [BR:hsa04040]
    3708 (ITPR1)
Protein phosphatases and associated proteins [BR:hsa01009]
 Protein serine/threonine phosphatases
  Phosphoprotein phosphatases (PPPs)
   Protein phosphatase-1
    PP1-interacting proteins (PIPs)
     3708 (ITPR1)
Ion channels [BR:hsa04040]
 Ligand-gated channels
  IP3 receptor
   3708 (ITPR1)
SSDB
Motif
Pfam: Ins145_P3_rec RYDR_ITPR MIR RIH_assoc Ion_trans
Other DBs
NCBI-GeneID: 3708
NCBI-ProteinID: NP_001161744
OMIM: 147265
HGNC: 6180
Ensembl: ENSG00000150995
UniProt: Q14643
LinkDB
Position
3:4493348..4847506
AA seq 2743 aa
MSDKMSSFLHIGDICSLYAEGSTNGFISTLGLVDDRCVVQPETGDLNNPPKKFRDCLFKL
CPMNRYSAQKQFWKAAKPGANSTTDAVLLNKLHHAADLEKKQNETENRKLLGTVIQYGNV
IQLLHLKSNKYLTVNKRLPALLEKNAMRVTLDEAGNEGSWFYIQPFYKLRSIGDSVVIGD
KVVLNPVNAGQPLHASSHQLVDNPGCNEVNSVNCNTSWKIVLFMKWSDNKDDILKGGDVV
RLFHAEQEKFLTCDEHRKKQHVFLRTTGRQSATSATSSKALWEVEVVQHDPCRGGAGYWN
SLFRFKHLATGHYLAAEVDPDQDASRSRLRNAQEKMVYSLVSVPEGNDISSIFELDPTTL
RGGDSLVPRNSYVRLRHLCTNTWVHSTNIPIDKEEEKPVMLKIGTSPVKEDKEAFAIVPV
SPAEVRDLDFANDASKVLGSIAGKLEKGTITQNERRSVTKLLEDLVYFVTGGTNSGQDVL
EVVFSKPNRERQKLMREQNILKQIFKLLQAPFTDCGDGPMLRLEELGDQRHAPFRHICRL
CYRVLRHSQQDYRKNQEYIAKQFGFMQKQIGYDVLAEDTITALLHNNRKLLEKHITAAEI
DTFVSLVRKNREPRFLDYLSDLCVSMNKSIPVTQELICKAVLNPTNADILIETKLVLSRF
EFEGVSSTGENALEAGEDEEEVWLFWRDSNKEIRSKSVRELAQDAKEGQKEDRDVLSYYR
YQLNLFARMCLDRQYLAINEISGQLDVDLILRCMSDENLPYDLRASFCRLMLHMHVDRDP
QEQVTPVKYARLWSEIPSEIAIDDYDSSGASKDEIKERFAQTMEFVEEYLRDVVCQRFPF
SDKEKNKLTFEVVNLARNLIYFGFYNFSDLLRLTKILLAILDCVHVTTIFPISKMAKGEE
NKGNNDVEKLKSSNVMRSIHGVGELMTQVVLRGGGFLPMTPMAAAPEGNVKQAEPEKEDI
MVMDTKLKIIEILQFILNVRLDYRISCLLCIFKREFDESNSQTSETSSGNSSQEGPSNVP
GALDFEHIEEQAEGIFGGSEENTPLDLDDHGGRTFLRVLLHLTMHDYPPLVSGALQLLFR
HFSQRQEVLQAFKQVQLLVTSQDVDNYKQIKQDLDQLRSIVEKSELWVYKGQGPDETMDG
ASGENEHKKTEEGNNKPQKHESTSSYNYRVVKEILIRLSKLCVQESASVRKSRKQQQRLL
RNMGAHAVVLELLQIPYEKAEDTKMQEIMRLAHEFLQNFCAGNQQNQALLHKHINLFLNP
GILEAVTMQHIFMNNFQLCSEINERVVQHFVHCIETHGRNVQYIKFLQTIVKAEGKFIKK
CQDMVMAELVNSGEDVLVFYNDRASFQTLIQMMRSERDRMDENSPLMYHIHLVELLAVCT
EGKNVYTEIKCNSLLPLDDIVRVVTHEDCIPEVKIAYINFLNHCYVDTEVEMKEIYTSNH
MWKLFENFLVDICRACNNTSDRKHADSILEKYVTEIVMSIVTTFFSSPFSDQSTTLQTRQ
PVFVQLLQGVFRVYHCNWLMPSQKASVESCIRVLSDVAKSRAIAIPVDLDSQVNNLFLKS
HSIVQKTAMNWRLSARNAARRDSVLAASRDYRNIIERLQDIVSALEDRLRPLVQAELSVL
VDVLHRPELLFPENTDARRKCESGGFICKLIKHTKQLLEENEEKLCIKVLQTLREMMTKD
RGYGEKLISIDELDNAELPPAPDSENATEELEPSPPLRQLEDHKRGEALRQVLVNRYYGN
VRPSGRRESLTSFGNGPLSAGGPGKPGGGGGGSGSSSMSRGEMSLAEVQCHLDKEGASNL
VIDLIMNASSDRVFHESILLAIALLEGGNTTIQHSFFCRLTEDKKSEKFFKVFYDRMKVA
QQEIKATVTVNTSDLGNKKKDDEVDRDAPSRKKAKEPTTQITEEVRDQLLEASAATRKAF
TTFRREADPDDHYQPGEGTQATADKAKDDLEMSAVITIMQPILRFLQLLCENHNRDLQNF
LRCQNNKTNYNLVCETLQFLDCICGSTTGGLGLLGLYINEKNVALINQTLESLTEYCQGP
CHENQNCIATHESNGIDIITALILNDINPLGKKRMDLVLELKNNASKLLLAIMESRHDSE
NAERILYNMRPKELVEVIKKAYMQGEVEFEDGENGEDGAASPRNVGHNIYILAHQLARHN
KELQSMLKPGGQVDGDEALEFYAKHTAQIEIVRLDRTMEQIVFPVPSICEFLTKESKLRI
YYTTERDEQGSKINDFFLRSEDLFNEMNWQKKLRAQPVLYWCARNMSFWSSISFNLAVLM
NLLVAFFYPFKGVRGGTLEPHWSGLLWTAMLISLAIVIALPKPHGIRALIASTILRLIFS
VGLQPTLFLLGAFNVCNKIIFLMSFVGNCGTFTRGYRAMVLDVEFLYHLLYLVICAMGLF
VHEFFYSLLLFDLVYREETLLNVIKSVTRNGRSIILTAVLALILVYLFSIVGYLFFKDDF
ILEVDRLPNETAVPETGESLASEFLFSDVCRVESGENCSSPAPREELVPAEETEQDKEHT
CETLLMCIVTVLSHGLRSGGGVGDVLRKPSKEEPLFAARVIYDLLFFFMVIIIVLNLIFG
VIIDTFADLRSEKQKKEEILKTTCFICGLERDKFDNKTVTFEEHIKEEHNMWHYLCFIVL
VKVKDSTEYTGPESYVAEMIKERNLDWFPRMRAMSLVSSDSEGEQNELRNLQEKLESTMK
LVTNLSGQLSELKDQMTEQRKQKQRIGLLGHPPHMNVNPQQPA
NT seq 8232 nt   +upstreamnt  +downstreamnt
atgtctgacaaaatgtctagcttcctacatattggagacatttgttctctgtacgcggag
ggatcgacaaatggatttattagcaccttgggcctggttgatgatcgttgtgttgtacag
ccagaaaccggggaccttaacaatccacctaagaaattcagagactgcctctttaagcta
tgtcccatgaaccgctactctgcccaaaagcagttctggaaagccgctaagcctggggcc
aacagcaccacagacgcagtgctactcaacaaactgcaccacgctgcagacttggaaaag
aagcagaatgagacagaaaacaggaaattgctggggaccgtaatccagtatggcaatgtg
atccagctcctgcatttgaaaagtaataaatacctaacagtgaataagaggcttcctgct
ctgttggagaagaatgccatgagagtcacattggacgaggctggaaatgaagggtcctgg
ttttatattcagccattctacaagctgcgatccattggagacagcgtggtcataggtgac
aaggtggttctgaaccccgtcaatgctggtcagcccctacatgctagcagccatcaactg
gtagataacccaggctgcaatgaggtcaattccgtcaactgcaatacaagctggaaaata
gtccttttcatgaaatggagtgataacaaagacgacatattaaaggggggtgacgtggtg
aggctgtttcatgctgagcaggagaagtttctcacctgtgacgaacacaggaagaagcag
cacgtcttcctgagaaccacgggccggcagtcggccacatctgccaccagttcaaaagcc
ctgtgggaggtggaggtggtccagcatgacccatgtcggggcggagcagggtattggaac
agccttttccgtttcaagcatctggccacggggcattacttggcagcagaggtggaccct
gatcaggacgcctctcgaagtaggttgcggaatgcccaagaaaagatggtatactccctg
gtctctgtgcctgaaggcaatgacatctcctccattttcgagctagatcccaccactctg
cgtggaggtgacagccttgtcccaaggaactcttatgttcggctcagacacctatgtact
aatacctgggttcacagcacaaatattcctattgacaaggaagaagaaaagcccgtgatg
ctgaaaattggcacctctcctgtgaaggaggataaggaagcatttgccatagttccggtt
tctcctgctgaagttcgggacctggactttgccaatgatgccagcaaggtgctgggctcc
attgctgggaagctagagaagggcaccatcacccagaatgaaaggaggtctgtaaccaag
ctgctagaagatttggtttacttcgtcactggtggaactaattctggtcaagatgttctc
gaagttgtcttctccaagcccaacagagaacggcagaaactgatgagagaacagaatatt
ctcaagcagatcttcaagttgttacaagccccattcacagactgcggtgatggcccaatg
cttcggctggaagagctcggggaccagcggcacgctcctttcagacacatctgccggctc
tgctacagggtgctgagacactcgcagcaagactacaggaagaaccaggagtatatagcc
aagcagtttggcttcatgcagaagcagattggctatgatgtgttggctgaagacactatc
actgccctgctccacaataatcggaaactcctggaaaaacacattaccgcggcagagatt
gacacatttgtcagcctggtgcgaaagaacagggagcccagattcttagattacctctcc
gacctctgtgtctccatgaacaaatcaattccagtgacccaggaactgatatgtaaagct
gtgctgaaccccaccaacgctgacatcctgattgagaccaagttggttctttctcgtttt
gaatttgaaggtgtctcttccactggagagaatgctctggaggcaggagaagacgaggaa
gaggtgtggctgttttggagggacagcaacaaagagattcgcagcaagagtgtgagggaa
ttggctcaggatgctaaagaagggcagaaggaggaccgagacgttctcagctactacaga
tatcagctgaacctctttgcgaggatgtgtctggaccgccaatacctggccatcaacgaa
atctcaggccagctggatgtcgatctcattctccgctgcatgtctgacgagaacctgccc
tatgacctcagggcgtccttctgccgcctcatgcttcacatgcatgtggaccgagatccc
caggaacaagtcacccccgtgaaatatgcccgcctctggtcggagattccctcggagatc
gccattgacgactatgatagtagtggagcttccaaagatgaaattaaggagagatttgct
cagaccatggagtttgtggaggagtatttaagagatgtggtttgtcagaggttccctttc
tctgataaagagaagaataagcttacgtttgaggttgtaaatttagctaggaatctcata
tactttggtttctacaacttctctgaccttctacgattaactaagatccttctggccata
ttggactgtgtacatgtgacaacaatcttccccattagcaagatggcgaaaggagaagag
aataaaggtaacaatgatgtggagaagctgaagagcagtaacgtgatgagatctattcat
ggcgtgggagagctgatgacccaggtggtgctccggggaggaggctttttgcccatgact
cccatggctgctgcccctgaaggcaatgtgaagcaggcagagcctgagaaggaggacatc
atggtcatggacaccaagctgaagatcattgagatactccagtttattttgaatgtgagg
ttggattataggatctcctgcctcctgtgtatatttaagcgagagtttgatgaaagcaat
tcccagacttcagaaacatcctccggaaacagcagccaagaagggccaagtaatgtacca
ggtgctcttgactttgaacacattgaagaacaagcagaaggcatctttggaggaagtgag
gagaacaccccactggacttggatgaccacggcggcagaacctttctccgtgtcctgctc
cacttgacgatgcatgactacccacccctggtgtcaggggccctgcagctcctcttccgg
cacttcagccagaggcaggaggtgctccaggccttcaaacaggttcaactgctggttacc
agccaagatgtggacaactacaaacagatcaaacaagacttggatcaactgaggtccatc
gtggaaaagtcagagctttgggtgtacaaagggcagggccccgatgagactatggatggt
gcatctggagaaaatgaacataagaaaacggaggagggaaataacaagccacaaaagcat
gaaagcaccagcagctacaactacagagtggtcaaagagattttgattcggcttagcaaa
ctctgtgttcaagagagtgcctcagtgagaaagagcaggaagcagcaacagcgtctgctc
cggaacatgggcgcgcacgccgtggtgctggagctgctgcagattccctatgagaaggcc
gaagataccaagatgcaagagataatgaggttggctcatgaatttttgcagaatttctgc
gcaggcaaccagcagaatcaagctttgctacataaacacataaacctgtttctcaaccca
gggatcctggaggcagtaaccatgcagcacatcttcatgaacaatttccagctttgcagt
gagatcaacgagagagttgttcagcacttcgttcactgcatagagactcacggtcggaat
gtccagtatataaagttcttacagacaattgtcaaggcagaagggaaatttattaaaaaa
tgccaagacatggttatggccgagctggtcaattcgggagaggatgtcctcgtgttctac
aacgacagagcctctttccagactctgatccagatgatgcggtcagaacgggatcggatg
gatgagaacagccctctcatgtaccacatccacttggtcgagctcctggctgtgtgcacg
gagggtaagaatgtctacacagagatcaagtgcaactccctgctcccgctggatgacatc
gttcgcgtggtgacccacgaggactgcatccctgaggttaaaattgcatacattaacttc
ctgaatcactgctatgtggatacagaggtggaaatgaaggagatttataccagcaatcac
atgtggaaattgtttgagaatttccttgtagacatctgcagggcctgtaacaacactagt
gacaggaaacatgcagactcgattttggagaagtatgtcaccgaaatcgtcatgagtatt
gttactactttcttcagctctcccttctcagaccagagtacgactttgcagactcgccag
cctgtctttgtgcaactgctgcaaggcgtgttcagggtttaccactgcaactggttaatg
ccaagccaaaaagcctccgtggagagctgtattcgggtgctgtctgatgtagccaagagc
cgggccattgccattcccgtggacctggacagccaagtcaacaacctctttctcaagtcc
cacagcattgtgcagaaaacagccatgaactggcggctctcagcccgcaatgccgcacgc
agggactctgttctggcagcttccagagactaccggaatatcattgagagattgcaggac
atcgtctccgcgctggaggaccgtctcaggcccctggtgcaggcagagttatctgtgctc
gtggatgttctccacagacccgagctgcttttcccagagaacacagacgccagaaggaaa
tgtgaaagtggcggtttcatttgcaagttaataaagcatacaaaacagctgctagaagaa
aatgaagagaagctctgcattaaggtcctacagaccctgagggaaatgatgaccaaagat
agaggctatggagaaaagctaatttccattgatgaattggataatgctgagcttcctcca
gctccggattctgagaacgccactgaggagcttgaaccaagtccacccctgcggcagctg
gaagaccataaaaggggtgaggcgctcaggcaagttctggtcaaccgttactatggaaac
gtcagaccttcgggacgaagagagagccttaccagctttggcaatggcccactgtcagca
ggaggacccggcaagcccgggggaggagggggaggttccggatccagctctatgagcagg
ggtgagatgagtctggccgaggttcagtgtcaccttgacaaggagggggcttccaatcta
gttatcgacctcatcatgaacgcatccagtgaccgagtgttccatgaaagcattctcctg
gccattgcccttctggaaggaggcaacaccaccatccagcactcctttttctgtcgcttg
acagaagataagaagtcagagaaattctttaaggtgttttatgaccggatgaaggtggcc
cagcaagaaatcaaagcaacagtgacagtgaacaccagtgacttgggaaataaaaagaaa
gacgatgaggtagacagggatgccccatcacggaaaaaagctaaagagcccacaacacag
ataacagaagaggtccgggatcagctcctggaggcctccgctgccaccaggaaagccttc
accactttcaggagggaggctgatcccgacgaccactaccagcctggagagggcacccag
gccactgccgacaaggccaaggacgacctggagatgagcgcggtcatcaccatcatgcag
cccatcctccgcttccttcagctcctgtgtgaaaaccacaaccgagacctgcagaacttc
ctccgttgccaaaataacaagaccaactacaatttggtatgtgagaccctgcagtttctg
gactgtatttgtggaagcacaactggaggccttggtcttctgggcttgtatataaatgaa
aagaacgtagcgcttatcaaccaaaccctggaaagtctgaccgaatactgtcaaggacct
tgccatgagaaccagaactgcatagccacccatgaatccaatggcattgacatcatcaca
gccctgatcctcaatgatatcaatcctttgggaaagaagaggatggaccttgtgttagaa
ctgaagaacaatgcctcgaagttgctcctggccatcatggaaagcaggcacgacagtgaa
aacgcagagaggatactttataacatgaggcccaaggaactggtggaagtgatcaagaaa
gcctacatgcaaggtgaagtggaatttgaggatggagaaaacggtgaggatggggcggcg
tcccccaggaacgtggggcacaacatctacatattagcccatcagttggctcggcataac
aaagaacttcagagcatgctgaaacctggtggccaagtggacggagatgaagccctggag
ttttatgccaagcacacggcgcagatagagattgtcagattagaccgaacaatggaacag
atagtctttcccgtgcccagcatatgtgaattcctaaccaaggagtcaaaactacgaatt
tactatactacagagagagacgaacaaggcagcaaaatcaatgatttctttctgcggtct
gaagacctcttcaatgaaatgaattggcagaagaaactgagagcccagcccgtgttgtac
tggtgtgcccgcaacatgtctttctggagcagcatttcgtttaacctggccgtcctgatg
aacctgctggtggcgtttttctacccgtttaagggagtccgaggaggaaccctggagccc
cactggtcgggactcctgtggacagccatgctcatctctctggccatcgtcattgccctc
cccaagccccatggcatccgggccttaattgcctccacaattctacgactgatattttca
gtcgggttacaacccacgttgtttcttctgggcgctttcaatgtatgcaataaaatcatc
tttctaatgagctttgtgggcaactgtgggacattcacaagaggctaccgagccatggtt
ctggatgttgagttcctctatcatttgttgtatctggtgatctgtgccatggggctcttt
gtccatgaattcttctacagtctgctgctttttgatttagtgtacagagaagagactttg
cttaatgtcattaaaagtgtcactcgcaatggacggtccatcatcctgacagcagttctg
gctctgatcctcgtttacctgttctcaatagtgggctatcttttcttcaaggatgacttt
atcttggaagtagataggctgcccaatgaaacagctgttccagaaaccggcgagagtttg
gcaagcgagttcctgttctccgatgtgtgtagggtggagagtggggagaactgctcctct
cctgcacccagagaagagctggtccctgcagaagagacggaacaggataaagagcacaca
tgtgagacgctgctgatgtgcattgtcactgtgctgagtcacgggctgcggagcgggggt
ggagtaggagatgtactcaggaagccgtccaaagaggaacccctgtttgctgctagagtt
atttatgacctcttgttcttcttcatggtcatcatcattgttcttaacctgatttttggg
gttatcattgacacttttgctgacctgaggagtgagaagcagaagaaggaagagatcttg
aagaccacgtgctttatctgtggcttggaaagagacaagtttgacaacaagactgtcacc
tttgaagagcacatcaaggaagaacacaacatgtggcactatctgtgcttcatcgtcctg
gtgaaagtaaaggactccaccgaatatactgggcctgagagttacgtggcagaaatgatc
aaggaaagaaaccttgactggttccccaggatgagagccatgtcattggtcagcagtgat
tctgaaggagaacagaatgagctgagaaacctgcaggagaagctggagtccaccatgaaa
cttgtcacgaacctttctggccagctgtcggaattaaaggatcagatgacagaacaaagg
aagcagaaacaaagaattggtcttctaggacatcctcctcacatgaatgtcaacccacaa
caaccagcataa

KEGG   Homo sapiens (human): 6511
Entry
6511              CDS       T01001                                 
Symbol
SLC1A6, EAAT4
Name
(RefSeq) solute carrier family 1 member 6
  KO
K05617  solute carrier family 1 (high affinity glutamate/aspartate transporter), member 6
Organism
hsa  Homo sapiens (human)
Pathway
hsa04721  Synaptic vesicle cycle
hsa04724  Glutamatergic synapse
hsa05017  Spinocerebellar ataxia
Network
nt06462  Spinocerebellar ataxia
  Element
N00965  RORA-mediated transcription
N00966  Mutation-caused aberrant ATXN1 to RORA-mediated transcription
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09150 Organismal Systems
  09156 Nervous system
   04724 Glutamatergic synapse
    6511 (SLC1A6)
   04721 Synaptic vesicle cycle
    6511 (SLC1A6)
 09160 Human Diseases
  09164 Neurodegenerative disease
   05017 Spinocerebellar ataxia
    6511 (SLC1A6)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   02000 Transporters [BR:hsa02000]
    6511 (SLC1A6)
Transporters [BR:hsa02000]
 Solute carrier family (SLC)
  SLC1: High-affinity glutamate and neutral amino acid transporter
   6511 (SLC1A6)
SSDB
Motif
Pfam: SDF
Other DBs
NCBI-GeneID: 6511
NCBI-ProteinID: NP_005062
OMIM: 600637
HGNC: 10944
Ensembl: ENSG00000105143
UniProt: P48664 B7Z7Q5
LinkDB
Position
19:complement(14950033..15010643)
AA seq 564 aa
MSSHGNSLFLRESGQRLGRVGWLQRLQESLQQRALRTRLRLQTMTLEHVLRFLRRNAFIL
LTVSAVVIGVSLAFALRPYQLTYRQIKYFSFPGELLMRMLQMLVLPLIVSSLVTGMASLD
NKATGRMGMRAAVYYMVTTIIAVFIGILMVTIIHPGKGSKEGLHREGRIETIPTADAFMD
LIRNMFPPNLVEACFKQFKTQYSTRVVTRTMVRTENGSEPGASMPPPFSVENGTSFLENV
TRALGTLQEMLSFEETVPVPGSANGINALGLVVFSVAFGLVIGGMKHKGRVLRDFFDSLN
EAIMRLVGIIIWYAPVGILFLIAGKILEMEDMAVLGGQLGMYTLTVIVGLFLHAGIVLPL
IYFLVTHRNPFPFIGGMLQALITAMGTSSSSATLPITFRCLEEGLGVDRRITRFVLPVGA
TVNMDGTALYEALAAIFIAQVNNYELNLGQITTISITATAASVGAAGIPQAGLVTMVIVL
TSVGLPTEDITLIIAVDWFLDRLRTMTNVLGDSIGAAVIEHLSQRELELQEAELTLPSLG
KPYKSLMAQEKGASRGRGGNESAM
NT seq 1695 nt   +upstreamnt  +downstreamnt
atgagcagccatggcaacagcctgttcctgcgggagagcggccagcggctgggccgggtg
ggctggctgcagcggctgcaggaaagcctgcagcagagagcactgcgcacgcgcctgcgc
ctgcagaccatgaccctcgagcacgtgctgcgcttcctgcgccgaaacgccttcattctg
ctgacggtcagcgccgtggtcattggggtcagcctggcctttgccctgcgcccatatcag
ctcacctaccgccagatcaagtacttctcttttcctggagagcttctgatgaggatgctg
cagatgctggtgttacctctcattgtctccagcctggtcacaggtatggcatccctggac
aacaaggccacggggcggatggggatgcgggcagctgtgtactacatggtgaccaccatc
atcgcggtcttcatcggcatcctcatggtcaccatcatccatcccgggaagggctccaag
gaggggctgcaccgggagggccggatcgagaccatccccacagctgatgccttcatggac
ctgatcagaaatatgtttccaccaaaccttgtggaggcctgcttcaaacagttcaagacg
cagtacagcacgagggtggtaaccaggaccatggtgaggacagagaacgggtctgagccg
ggtgcctccatgcctcctccattctcagtggagaacggaaccagcttcctggaaaatgtc
actcgggccttgggtaccctgcaggagatgctgagctttgaggagactgtacccgtgcct
ggctccgccaatggcatcaacgccctgggcctcgtggtcttctctgtggcctttgggctg
gtcattggtggcatgaaacacaagggcagagtcctcagggacttcttcgacagcctcaat
gaggctattatgaggctggtgggcatcattatctggtatgcacctgtgggcatcctgttc
ctgattgctgggaagattctggagatggaagacatggccgtcctggggggtcagctgggc
atgtacaccctgaccgtcatcgtgggcctgttcctccatgccggcattgtccttcccctc
atctacttcctcgtcactcaccggaaccccttccccttcattgggggcatgctacaagcc
ctcatcaccgctatgggcacgtcttccagctcggcaacgctgcccatcaccttccgctgc
ctggaggagggcctgggtgtggaccgccgcatcaccaggttcgtcctgcccgtgggcgcc
acggtcaacatggatggcactgccctctacgaggccctggctgccatcttcattgctcaa
gttaacaactacgagctcaacctgggtcagatcacaaccatcagcatcacggccacagca
gccagtgttggggctgctggcatcccccaggcgggtctggtcaccatggtcattgtgctt
acgtcggtcggcttgcccacggaagacatcacgctcatcattgccgtggactggttcctt
gaccggcttcgcacaatgaccaacgtactgggggactcaattggagcggccgtcatcgag
cacttgtctcagcgggagctggagcttcaggaagctgagcttaccctccccagcctgggg
aaaccctacaagtccctcatggcacaggagaagggggcatcccggggacggggaggcaac
gagagtgctatgtga

KEGG   Homo sapiens (human): 2911
Entry
2911              CDS       T01001                                 
Symbol
GRM1, GPRC1A, MGLU1, MGLUR1, PPP1R85, SCA44, SCAR13
Name
(RefSeq) glutamate metabotropic receptor 1
  KO
K04603  metabotropic glutamate receptor 1
Organism
hsa  Homo sapiens (human)
Pathway
hsa04020  Calcium signaling pathway
hsa04068  FoxO signaling pathway
hsa04072  Phospholipase D signaling pathway
hsa04080  Neuroactive ligand-receptor interaction
hsa04540  Gap junction
hsa04720  Long-term potentiation
hsa04723  Retrograde endocannabinoid signaling
hsa04724  Glutamatergic synapse
hsa04730  Long-term depression
hsa04742  Taste transduction
hsa04915  Estrogen signaling pathway
hsa05017  Spinocerebellar ataxia
hsa05022  Pathways of neurodegeneration - multiple diseases
Network
nt06462  Spinocerebellar ataxia
nt06463  Parkinson disease
nt06466  Pathways of neurodegeneration
nt06528  Calcium signaling
  Element
N00953  mGluR1-TRPC3 signaling pathway
N00954  Mutation-activated GRM1 to mGluR1-TRPC3 signaling pathway
N00955  Mutation-inactivated PRKCG to mGluR1-TRPC3 signaling pathway
N00956  Mutation-activated PRKCG to mGluR1-TRPC3 signaling pathway
N00957  Mutation-caused abberant ATXN2/3 to mGluR5-Ca2+ -apoptotic pathway
N00958  Mutation-activated ITPR1 to mGluR1-TRPC3 signaling pathway
N00959  ITPR1-reduced expression to mGluR1-TRPC3 signaling pathway
N00960  Mutation-caused aberrant SPTBN2 to mGluR1-TRPC3 signaling pathway
N00965  RORA-mediated transcription
N00966  Mutation-caused aberrant ATXN1 to RORA-mediated transcription
N01640  GPCR-PLCB-ITPR signaling pathway
Disease
H00063  Spinocerebellar ataxia (SCA)
H01891  Autosomal recessive spinocerebellar ataxias
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04068 FoxO signaling pathway
    2911 (GRM1)
   04020 Calcium signaling pathway
    2911 (GRM1)
   04072 Phospholipase D signaling pathway
    2911 (GRM1)
  09133 Signaling molecules and interaction
   04080 Neuroactive ligand-receptor interaction
    2911 (GRM1)
 09140 Cellular Processes
  09144 Cellular community - eukaryotes
   04540 Gap junction
    2911 (GRM1)
 09150 Organismal Systems
  09152 Endocrine system
   04915 Estrogen signaling pathway
    2911 (GRM1)
  09156 Nervous system
   04724 Glutamatergic synapse
    2911 (GRM1)
   04720 Long-term potentiation
    2911 (GRM1)
   04730 Long-term depression
    2911 (GRM1)
   04723 Retrograde endocannabinoid signaling
    2911 (GRM1)
  09157 Sensory system
   04742 Taste transduction
    2911 (GRM1)
 09160 Human Diseases
  09164 Neurodegenerative disease
   05017 Spinocerebellar ataxia
    2911 (GRM1)
   05022 Pathways of neurodegeneration - multiple diseases
    2911 (GRM1)
 09180 Brite Hierarchies
  09181 Protein families: metabolism
   01009 Protein phosphatases and associated proteins [BR:hsa01009]
    2911 (GRM1)
  09183 Protein families: signaling and cellular processes
   04030 G protein-coupled receptors [BR:hsa04030]
    2911 (GRM1)
Protein phosphatases and associated proteins [BR:hsa01009]
 Protein serine/threonine phosphatases
  Phosphoprotein phosphatases (PPPs)
   Protein phosphatase-1
    PP1-interacting proteins (PIPs)
     2911 (GRM1)
G protein-coupled receptors [BR:hsa04030]
 Metabotropic glutamate receptor family
  Glutamate (metabotropic)
   2911 (GRM1)
SSDB
Motif
Pfam: ANF_receptor 7tm_3 GluR_Homer-bdg NCD3G DUF5438 FtrD-like
Other DBs
NCBI-GeneID: 2911
NCBI-ProteinID: NP_001264993
OMIM: 604473
HGNC: 4593
Ensembl: ENSG00000152822
UniProt: Q13255 Q59HC2
Structure
LinkDB
Position
6:146027707..146437601
AA seq 1194 aa
MVGLLLFFFPAIFLEVSLLPRSPGRKVLLAGASSQRSVARMDGDVIIGALFSVHHQPPAE
KVPERKCGEIREQYGIQRVEAMFHTLDKINADPVLLPNITLGSEIRDSCWHSSVALEQSI
EFIRDSLISIRDEKDGINRCLPDGQSLPPGRTKKPIAGVIGPGSSSVAIQVQNLLQLFDI
PQIAYSATSIDLSDKTLYKYFLRVVPSDTLQARAMLDIVKRYNWTYVSAVHTEGNYGESG
MDAFKELAAQEGLCIAHSDKIYSNAGEKSFDRLLRKLRERLPKARVVVCFCEGMTVRGLL
SAMRRLGVVGEFSLIGSDGWADRDEVIEGYEVEANGGITIKLQSPEVRSFDDYFLKLRLD
TNTRNPWFPEFWQHRFQCRLPGHLLENPNFKRICTGNESLEENYVQDSKMGFVINAIYAM
AHGLQNMHHALCPGHVGLCDAMKPIDGSKLLDFLIKSSFIGVSGEEVWFDEKGDAPGRYD
IMNLQYTEANRYDYVHVGTWHEGVLNIDDYKIQMNKSGVVRSVCSEPCLKGQIKVIRKGE
VSCCWICTACKENEYVQDEFTCKACDLGWWPNADLTGCEPIPVRYLEWSNIESIIAIAFS
CLGILVTLFVTLIFVLYRDTPVVKSSSRELCYIILAGIFLGYVCPFTLIAKPTTTSCYLQ
RLLVGLSSAMCYSALVTKTNRIARILAGSKKKICTRKPRFMSAWAQVIIASILISVQLTL
VVTLIIMEPPMPILSYPSIKEVYLICNTSNLGVVAPLGYNGLLIMSCTYYAFKTRNVPAN
FNEAKYIAFTMYTTCIIWLAFVPIYFGSNYKIITTCFAVSLSVTVALGCMFTPKMYIIIA
KPERNVRSAFTTSDVVRMHVGDGKLPCRSNTFLNIFRRKKAGAGNANSNGKSVSWSEPGG
GQVPKGQHMWHRLSVHVKTNETACNQTAVIKPLTKSYQGSGKSLTFSDTSTKTLYNVEEE
EDAQPIRFSPPGSPSMVVHRRVPSAATTPPLPSHLTAEETPLFLAEPALPKGLPPPLQQQ
QQPPPQQKSLMDQLQGVVSNFSTAIPDFHAVLAGPGGPGNGLRSLYPPPPPPQHLQMLPL
QLSTFGEELVSPPADDDDDSERFKLLQEYVYEHEREGNTEEDELEEEEEDLQAASKLTPD
DSPALTPPSPFRDSVASGSSVPSSPVSESVLCTPPNVSYASVILRDYKQSSSTL
NT seq 3585 nt   +upstreamnt  +downstreamnt
atggtcgggctccttttgttttttttcccagcgatctttttggaggtgtcccttctcccc
agaagccccggcaggaaagtgttgctggcaggagcgtcgtctcagcgctcggtggccaga
atggacggagatgtcatcattggagccctcttctcagtccatcaccagcctccggccgag
aaagtgcccgagaggaagtgtggggagatcagggagcagtatggcatccagagggtggag
gccatgttccacacgttggataagatcaacgcggacccggtcctcctgcccaacatcacc
ctgggcagtgagatccgggactcctgctggcactcttccgtggctctggaacagagcatt
gagttcattagggactctctgatttccattcgagatgagaaggatgggatcaaccggtgt
ctgcctgacggccagtccctccccccaggcaggactaagaagcccattgcgggagtgatc
ggtcccggctccagctctgtagccattcaagtgcagaacctgctccagctcttcgacatc
ccccagatcgcttattcagccacaagcatcgacctgagtgacaaaactttgtacaaatac
ttcctgagggttgtcccttctgacactttgcaggcaagggccatgcttgacatagtcaaa
cgttacaattggacctatgtctctgcagtccacacggaagggaattatggggagagcgga
atggacgctttcaaagagctggctgcccaggaaggcctctgtatcgcccattctgacaaa
atctacagcaacgctggggagaagagctttgaccgactcttgcgcaaactccgagagagg
cttcccaaggctagagtggtggtctgcttctgtgaaggcatgacagtgcgaggactcctg
agcgccatgcggcgccttggcgtcgtgggcgagttctcactcattggaagtgatggatgg
gcagacagagatgaagtcattgaaggttatgaggtggaagccaacgggggaatcacgata
aagctgcagtctccagaggtcaggtcatttgatgattatttcctgaaactgaggctggac
actaacacgaggaatccctggttccctgagttctggcaacatcggttccagtgccgcctt
ccaggacaccttctggaaaatcccaactttaaacgaatctgcacaggcaatgaaagctta
gaagaaaactatgtccaggacagtaagatggggtttgtcatcaatgccatctatgccatg
gcacatgggctgcagaacatgcaccatgccctctgccctggccacgtgggcctctgcgat
gccatgaagcccatcgacggcagcaagctgctggacttcctcatcaagtcctcattcatt
ggagtatctggagaggaggtgtggtttgatgagaaaggagacgctcctggaaggtatgat
atcatgaatctgcagtacactgaagctaatcgctatgactatgtgcacgttggaacctgg
catgaaggagtgctgaacattgatgattacaaaatccagatgaacaagagtggagtggtg
cggtctgtgtgcagtgagccttgcttaaagggccagattaaggttatacggaaaggagaa
gtgagctgctgctggatttgcacggcctgcaaagagaatgaatatgtgcaagatgagttc
acctgcaaagcttgtgacttgggatggtggcccaatgcagatctaacaggctgtgagccc
attcctgtgcgctatcttgagtggagcaacatcgaatccattatagccatcgccttttca
tgcctgggaatccttgttaccttgtttgtcaccctaatctttgtactgtaccgggacaca
ccagtggtcaaatcctccagtcgggagctctgctacatcatcctagctggcatcttcctt
ggttatgtgtgcccattcactctcattgccaaacctactaccacctcctgctacctccag
cgcctcttggttggcctctcctctgcgatgtgctactctgctttagtgactaaaaccaat
cgtattgcacgcatcctggctggcagcaagaagaagatctgcacccggaagcccaggttc
atgagtgcctgggctcaggtgatcattgcctcaattctgattagtgtgcaactaaccctg
gtggtaaccctgatcatcatggaaccccctatgcccattctgtcctacccaagtatcaag
gaagtctaccttatctgcaataccagcaacctgggtgtggtggcccctttgggctacaat
ggactcctcatcatgagctgtacctactatgccttcaagacccgcaacgtgcccgccaac
ttcaacgaggccaaatatatcgcgttcaccatgtacaccacctgtatcatctggctagct
tttgtgcccatttactttgggagcaactacaagatcatcacaacttgctttgcagtgagt
ctcagtgtaacagtggctctggggtgcatgttcactcccaagatgtacatcattattgcc
aagcctgagaggaatgtccgcagtgccttcaccacctctgatgttgtccgcatgcatgtt
ggcgatggcaagctgccctgccgctccaacactttcctcaacatcttccgaagaaagaag
gcaggggcagggaatgccaattctaatggcaagtctgtgtcatggtctgaaccaggtgga
ggacaggtgcccaagggacagcatatgtggcaccgcctctctgtgcacgtgaagaccaat
gagacggcctgcaaccaaacagccgtcatcaagcccctcactaaaagttaccaaggctct
ggcaagagcctgaccttttcagataccagcaccaagaccctttacaacgtagaggaggag
gaggatgcccagccgattcgctttagcccgcctggtagcccttccatggtggtgcacagg
cgcgtgccaagcgcggcgaccactccgcctctgccgtcccacctgaccgcagaggagacc
cccctcttcctggccgaaccagccctccccaagggcttgccccctcctctccagcagcag
cagcaaccccctccacagcagaaatcgctgatggaccagctccagggagtggtcagcaac
ttcagtaccgcgatcccggattttcacgcggtgctggcaggccccggtggtcccgggaac
gggctgcggtccctgtacccgcccccgccacctccgcagcacctgcagatgctgccgctg
cagctgagcacctttggggaggagctggtctccccgcccgcggacgacgacgacgacagc
gagaggtttaagctcctccaggagtacgtgtatgagcacgagcgggaagggaacacggaa
gaagacgaactggaagaggaggaggaggacctgcaggcggccagcaaactgaccccggat
gattcgcctgcgctgacgcctccgtcgcctttccgcgactcggtggcctcgggcagctcg
gtgcccagctcccccgtgtccgagtcggtgctctgcacccctcccaacgtatcctacgcc
tctgtcattctgcgggactacaagcaaagctcttccaccctgtaa

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