CACNA1A
entrez
773
canonical
uniprot
O00555
canonical
ensembl
ENSG00000141837
resolver
ensp
ENSP00000353362
resolver
ensp
ENSP00000489829
resolver
ensp
ENSP00000489913
resolver
ensp
ENSP00000490578
resolver
ensp
ENSP00000490617
resolver
enst
ENST00000636549
resolver
enst
ENST00000638029
resolver
genesymbol
CACNA1A
resolver
genesymbol_syn
CACH4
resolver
genesymbol_syn
CACN3
resolver
genesymbol_syn
CACNL1A4
resolver
hgnc
HGNC:1388
resolver
uniprot
A0A087WW63
resolver
uniprot
A0A1B0GVM7
resolver
uniprot
B5TYJ1
resolver
uniprot
J3KP41
resolver
uniprot
P78510
resolver
uniprot
P78511
resolver
uniprot
Q16290
resolver
uniprot
Q92690
resolver
uniprot
Q99790
resolver
uniprot
Q99791
resolver
uniprot
Q99792
resolver
uniprot
Q99793
resolver
uniprot
Q9NS88
resolver
uniprot
Q9NS89
resolver
uniprot
Q9UDC4
resolver
uniprot_entry
A0A087WW63_HUMAN
resolver
uniprot_entry
A0A1B0GVM7_HUMAN
resolver
uniprot_entry
B5TYJ1_HUMAN
resolver
uniprot_entry
CAC1A_HUMAN
resolver
uniprot_entry
Q9NS89_HUMAN
resolver
uniprot_sec
J3KP41
resolver
uniprot_sec
P78510
resolver
uniprot_sec
P78511
resolver
uniprot_sec
Q16290
resolver
uniprot_sec
Q92690
resolver
uniprot_sec
Q99790
resolver
uniprot_sec
Q99791
resolver
uniprot_sec
Q99792
resolver
uniprot_sec
Q99793
resolver
uniprot_sec
Q9NS88
resolver
uniprot_sec
Q9UDC4
resolver
amino_acid_sequence
MARFGDEMPARYGGGGSGAAAGVVVGSGGGRGAGGSRQGGQPGAQRMYKQSMAQRARTMALYNPIPVRQNCLTVNRSLFLFSEDNVVRKYAKKITEWPPFEYMILATIIANCIVLALEQHLPDDDKTPMSERLDDTEPYFIGIFCFEAGIKIIALGFAFHKGSYLRNGWNVMDFVVVLTGILATVGTEFDLRTLRAVRVLRPLKLVSGIPSLQVVLKSIMKAMIPLLQIGLLLFFAILIFAIIGLEFYMGKFHTTCFEEGTDDIQGESPAPCGTEEPARTCPNGTKCQPYWEGPNNGITQFDNILFAVLTVFQCITMEGWTDLLYNSNDASGNTWNWLYFIPLIIIGSFFMLNLVLGVLSGEFAKERERVENRRAFLKLRRQQQIERELNGYMEWISKAEEVILAEDETDGEQRHPFDALRRTTIKKSKTDLLNPEEAEDQLADIASVGSPFARASIKSAKLENSTFFHKKERRMRFYIRRMVKTQAFYWTVLSLVALNTLCVAIVHYNQPEWLSDFLYYAEFIFLGLFMSEMFIKMYGLGTRPYFHSSFNCFDCGVIIGSIFEVIWAVIKPGTSFGISVLRALRLLRIFKVTKYWASLRNLVVSLLNSMKSIISLLFLLFLFIVVFALLGMQLFGGQFNFDEGTPPTNFDTFPAAIMTVFQILTGEDWNEVMYDGIKSQGGVQGGMVFSIYFIVLTLFGNYTLLNVFLAIAVDNLANAQELTKDEQEEEEAANQKLALQKAKEVAEVSPLSAANMSIAVKEQQKNQKPAKSVWEQRTSEMRKQNLLASREALYNEMDPDERWKAAYTRHLRPDMKTHLDRPLVVDPQENRNNNTNKSRAAEPTVDQRLGQQRAEDFLRKQARYHDRARDPSGSAGLDARRPWAGSQEAELSREGPYGRESDHHAREGSLEQPGFWEGEAERGKAGDPHRRHVHRQGGSRESRSGSPRTGADGEHRRHRAHRRPGEEGPEDKAERRARHREGSRPARGGEGEGEGPDGGERRRRHRHGAPATYEGDARREDKERRHRRRKENQGSGVPVSGPNLSTTRPIQQDLGRQDPPLAEDIDNMKNNKLATAESAAPHGSLGHAGLPQSPAKMGNSTDPGPMLAIPAMATNPQNAASRRTPNNPGNPSNPGPPKTPENSLIVTNPSGTQTNSAKTARKPDHTTVDIPPACPPPLNHTVVQVNKNANPDPLPKKEEEKKEEEEDDRGEDGPKPMPPYSSMFILSTTNPLRRLCHYILNLRYFEMCILMVIAMSSIALAAEDPVQPNAPRNNVLRYFDYVFTGVFTFEMVIKMIDLGLVLHQGAYFRDLWNILDFIVVSGALVAFAFTGNSKGKDINTIKSLRVLRVLRPLKTIKRLPKLKAVFDCVVNSLKNVFNILIVYMLFMFIFAVVAVQLFKGKFFHCTDESKEFEKDCRGKYLLYEKNEVKARDREWKKYEFHYDNVLWALLTLFTVSTGEGWPQVLKHSVDATFENQGPSPGYRMEMSIFYVVYFVVFPFFFVNIFVALIIITFQEQGDKMMEEYSLEKNERACIDFAISAKPLTRHMPQNKQSFQYRMWQFVVSPPFEYTIMAMIALNTIVLMMKFYGASVAYENALRVFNIVFTSLFSLECVLKVMAFGILNYFRDAWNIFDFVTVLGSITDILVTEFGNNFINLSFLRLFRAARLIKLLRQGYTIRILLWTFVQSFKALPYVCLLIAMLFFIYAIIGMQVFGNIGIDVEDEDSDEDEFQITEHNNFRTFFQALMLLFRSATGEAWHNIMLSCLSGKPCDKNSGILTRECGNEFAYFYFVSFIFLCSFLMLNLFVAVIMDNFEYLTRDSSILGPHHLDEYVRVWAEYDPAAWGRMPYLDMYQMLRHMSPPLGLGKKCPARVAYKRLLRMDLPVADDNTVHFNSTLMALIRTALDIKIAKGGADKQQMDAELRKEMMAIWPNLSQKTLDLLVTPHKSTDLTVGKIYAAMMIMEYYRQSKAKKLQAMREEQDRTPLMFQRMEPPSPTQEGGPGQNALPSTQLDPGGALMAHESGLKESPSWVTQRAQEMFQKTGTWSPEQGPPTDMPNSQPNSQSVEMREMGRDGYSDSEHYLPMEGQGRAASMPRLPAENQRRRGRPRGNNLSTISDTSPMKRSASVLGPKARRLDDYSLERVPPEENQRHHQRRRDRSHRASERSLGRYTDVDTGLGTDLSMTTQSGDLPSKERDQERGRPKDRKHRQHHHHHHHHHHPPPPDKDRYAQERPDHGRARARDQRWSRSPSEGREHMAHRQGSSSVSGSPAPSTSGTSTPRRGRRQLPQTPSTPRPHVSYSPVIRKAGGSGPPQQQQQQQQQQQQQAVARPGRAATSGPRRYPGPTAEPLAGDRPPTGGHSSGRSPRMERRVPGPARSESPRACRHGGARWPASGPHVSEGPPGPRHHGYYRGSDYDEADGPGSGGGEEAMAGAYDAPPPVRHASSGATGRSPRTPRASGPACASPSRHGRRLPNGYYPAHGLARPRGPGSRKGLHEPYSESDDDWC
uniprot
proteins
disease_involvement
DISEASE: Spinocerebellar ataxia 6 (SCA6) [MIM:183086]: Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA6 is an autosomal dominant cerebellar ataxia (ADCA), mainly caused by expansion of a CAG repeat in the coding region of CACNA1A. There seems to be a correlation between the repeat number and earlier onset of the disorder. {ECO:0000269|PubMed:16325861, ECO:0000269|PubMed:20682717, ECO:0000269|PubMed:29053796, ECO:0000269|PubMed:8988170, ECO:0000269|PubMed:9302278, ECO:0000269|PubMed:9345107}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Migraine, familial hemiplegic, 1 (FHM1) [MIM:141500]: A subtype of migraine with aura associated with ictal hemiparesis and, in some families, cerebellar ataxia and atrophy. Migraine is a disabling symptom complex of periodic headaches, usually temporal and unilateral. Headaches are often accompanied by irritability, nausea, vomiting and photophobia, preceded by constriction of the cranial arteries. Migraine with aura is characterized by recurrent attacks of reversible neurological symptoms (aura) that precede or accompany the headache. Aura may include a combination of sensory disturbances, such as blurred vision, hallucinations, vertigo, numbness and difficulty in concentrating and speaking. {ECO:0000269|PubMed:10408532, ECO:0000269|PubMed:11409427, ECO:0000269|PubMed:11439943, ECO:0000269|PubMed:15032980, ECO:0000269|PubMed:18400034, ECO:0000269|PubMed:24836863, ECO:0000269|PubMed:26716990, ECO:0000269|PubMed:28900389, ECO:0000269|PubMed:8898206}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Episodic ataxia 2 (EA2) [MIM:108500]: An autosomal dominant disorder characterized by acetozolamide-responsive attacks of ataxia, migraine-like symptoms, interictal nystagmus, and cerebellar atrophy. {ECO:0000269|PubMed:10408533, ECO:0000269|PubMed:10987655, ECO:0000269|PubMed:11176968, ECO:0000269|PubMed:11723274, ECO:0000269|PubMed:12420090, ECO:0000269|PubMed:14718690, ECO:0000269|PubMed:15173248, ECO:0000269|PubMed:15293273, ECO:0000269|PubMed:18602318, ECO:0000269|PubMed:19232643, ECO:0000269|PubMed:20129625, ECO:0000269|PubMed:21696515, ECO:0000269|PubMed:38221525, ECO:0000269|PubMed:8898206, ECO:0000269|PubMed:9302278}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Developmental and epileptic encephalopathy 42 (DEE42) [MIM:617106]: A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE42 inheritance is autosomal dominant. {ECO:0000269|PubMed:27250579, ECO:0000269|PubMed:27476654}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1A gives rise to P and/or Q-type calcium currents. P/Q-type calcium channels belong to the 'high-voltage activated' (HVA) group and are specifically blocked by the spider omega-agatoxin-IVA (AC P54282) (By similarity). They are however insensitive to dihydropyridines (DHP). {ECO:0000250|UniProtKB:P54282, ECO:0000269|PubMed:10049321, ECO:0000269|PubMed:10753886, ECO:0000269|PubMed:11723274, ECO:0000269|PubMed:15293273, ECO:0000269|PubMed:19232643, ECO:0000269|PubMed:24836863, ECO:0000269|PubMed:26716990}.
uniprot
proteins
mass_dalton
282564
uniprot
proteins
protein_family
CACNA1A subfamily
uniprot
proteins
protein_family
Calcium channel alpha-1 subunit (TC 1.A.1.11) family
uniprot
proteins
pubmed
10049321
uniprot
proteins
pubmed
10408532
uniprot
proteins
pubmed
10408533
uniprot
proteins
pubmed
10753886
uniprot
proteins
pubmed
10987655
uniprot
proteins
pubmed
11176968
uniprot
proteins
pubmed
11409427
uniprot
proteins
pubmed
11439943
uniprot
proteins
pubmed
11723274
uniprot
proteins
pubmed
11865310
uniprot
proteins
pubmed
12420090
uniprot
proteins
pubmed
1335101
uniprot
proteins
pubmed
14718690
uniprot
proteins
pubmed
15032980
uniprot
proteins
pubmed
15057824
uniprot
proteins
pubmed
15173248
uniprot
proteins
pubmed
15293273
uniprot
proteins
pubmed
16325861
uniprot
proteins
pubmed
16866717
uniprot
proteins
pubmed
18400034
uniprot
proteins
pubmed
18400181
uniprot
proteins
pubmed
18602318
uniprot
proteins
pubmed
19232643
uniprot
proteins
pubmed
19429006
uniprot
proteins
pubmed
20129625
uniprot
proteins
pubmed
20682717
uniprot
proteins
pubmed
21696515
uniprot
proteins
pubmed
24836863
uniprot
proteins
pubmed
26716990
uniprot
proteins
pubmed
27250579
uniprot
proteins
pubmed
27476654
uniprot
proteins
pubmed
28742085
uniprot
proteins
pubmed
28900389
uniprot
proteins
pubmed
29053796
uniprot
proteins
pubmed
33539324
uniprot
proteins
pubmed
33798445
uniprot
proteins
pubmed
38221525
uniprot
proteins
pubmed
7823133
uniprot
proteins
pubmed
8525433
uniprot
proteins
pubmed
8898206
uniprot
proteins
pubmed
8988170
uniprot
proteins
pubmed
9302278
uniprot
proteins
pubmed
9345107
uniprot
proteins
sequence_length
2506
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:10049321, ECO:0000269|PubMed:26716990}; Multi-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 99..117; /note="Helical; Name=S1 of repeat I"; /evidence="ECO:0000255"; TRANSMEM 136..155; /note="Helical; Name=S2 of repeat I"; /evidence="ECO:0000255"; TRANSMEM 168..185; /note="Helical; Name=S3 of repeat I"; /evidence="ECO:0000255"; TRANSMEM 191..209; /note="Helical; Name=S4 of repeat I"; /evidence="ECO:0000255"; TRANSMEM 229..248; /note="Helical; Name=S5 of repeat I"; /evidence="ECO:0000255"; TRANSMEM 336..360; /note="Helical; Name=S6 of repeat I"; /evidence="ECO:0000255"; TRANSMEM 487..505; /note="Helical; Name=S1 of repeat II"; /evidence="ECO:0000255"; TRANSMEM 521..540; /note="Helical; Name=S2 of repeat II"; /evidence="ECO:0000255"; TRANSMEM 549..567; /note="Helical; Name=S3 of repeat II"; /evidence="ECO:0000255"; TRANSMEM 578..596; /note="Helical; Name=S4 of repeat II"; /evidence="ECO:0000255"; TRANSMEM 616..635; /note="Helical; Name=S5 of repeat II"; /evidence="ECO:0000255"; TRANSMEM 689..713; /note="Helical; Name=S6 of repeat II"; /evidence="ECO:0000255"; TRANSMEM 1242..1260; /note="Helical; Name=S1 of repeat III"; /evidence="ECO:0000255"; TRANSMEM 1277..1296; /note="Helical; Name=S2 of repeat III"; /evidence="ECO:0000255"; TRANSMEM 1309..1327; /note="Helical; Name=S3 of repeat III"; /evidence="ECO:0000255"; TRANSMEM 1339..1357; /note="Helical; Name=S4 of repeat III"; /evidence="ECO:0000255"; TRANSMEM 1377..1396; /note="Helical; Name=S5 of repeat III"; /evidence="ECO:0000255"; TRANSMEM 1484..1508; /note="Helical; Name=S6 of repeat III"; /evidence="ECO:0000255"; TRANSMEM 1564..1592; /note="Helical; Name=S1 of repeat IV"; /evidence="ECO:0000255"; TRANSMEM 1598..1617; /note="Helical; Name=S2 of repeat IV"; /evidence="ECO:0000255"; TRANSMEM 1626..1644; /note="Helical; Name=S3 of repeat IV"; /evidence="ECO:0000255"; TRANSMEM 1652..1670; /note="Helical; Name=S4 of repeat IV"; /evidence="ECO:0000255"; TRANSMEM 1690..1709; /note="Helical; Name=S5 of repeat IV"; /evidence="ECO:0000255"; TRANSMEM 1782..1806; /note="Helical; Name=S6 of repeat IV"; /evidence="ECO:0000255
uniprot
proteins