KEGG   Homo sapiens (human): 773
Entry
773               CDS       T01001                                 
Symbol
CACNA1A, APCA, BI, CACNL1A4, CAV2.1, DEE42, EA2, EIEE42, FHM, HPCA, MHP, MHP1, SCA6
Name
(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
nt06460  Alzheimer disease
nt06461  Huntington disease
nt06462  Spinocerebellar ataxia
nt06463  Parkinson disease
nt06465  Prion disease
nt06466  Pathways of neurodegeneration
nt06528  Calcium signaling
  Element
N00967  VGCC-Ca2+ -apoptotic pathway
N00968  Mutation-activated CACNA1A to VGCC-Ca2+ -apoptotic pathway
N00969  Mutation-inactivated CACNA1A to VGCC-Ca2- -apoptotic pathway
N01637  Ca2+ entry, Voltage-gated Ca2+ channel
N01649  Ca2+/CAM-VGCC/RYR signaling 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
UniProt: O00555
Structure
Position
19:complement(13206442..13506479)
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

  All links  
Ontology (2)   
   KEGG BRITE (2)   
Pathway (16)   
   KEGG PATHWAY (16)   
Network (12)   
   KEGG NETWORK (12)   
Disease (10)   
   KEGG DISEASE (5)   
   OMIM (5)   
Genome (1)   
   KEGG GENOME (1)   
Gene (98)   
   KEGG ORTHOLOGY (1)   
   RefGene (92)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   OC (1)   
Protein sequence (7)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (5)   
DNA sequence (41)   
   RefSeq(nuc) (5)   
   GenBank (18)   
   EMBL (18)   
3D Structure (1)   
   PDB (1)   
Protein domain (4)   
   Pfam (4)   
All databases (192)   

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