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Protein

Voltage-dependent P/Q-type calcium channel subunit alpha-1A

Gene

CACNA1A

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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).By similarity7 Publications

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sitei318Calcium ion selectivity and permeabilityBy similarity1
Sitei667Calcium ion selectivity and permeabilityBy similarity1
Sitei1459Calcium ion selectivity and permeabilityBy similarity1
Sitei1648Binds to omega-Aga-IVABy similarity1
Sitei1755Calcium ion selectivity and permeabilityBy similarity1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Calcium bindingi1839 – 1850By similarityAdd BLAST12

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionCalcium channel, Ion channel, Voltage-gated channel
Biological processCalcium transport, Ion transport, Transport
LigandCalcium, Metal-binding

Enzyme and pathway databases

ReactomeiR-HSA-112308 Presynaptic depolarization and calcium channel opening
R-HSA-422356 Regulation of insulin secretion

Protein family/group databases

TCDBi1.A.1.11.27 the voltage-gated ion channel (vic) superfamily

Names & Taxonomyi

Protein namesi
Recommended name:
Voltage-dependent P/Q-type calcium channel subunit alpha-1ACurated
Alternative name(s):
Brain calcium channel I1 Publication
Short name:
BI1 Publication
Calcium channel, L type, alpha-1 polypeptide isoform 4
Voltage-gated calcium channel subunit alpha Cav2.1
Gene namesi
Name:CACNA1AImported
Synonyms:CACH4, CACN3, CACNL1A4
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

EuPathDBiHostDB:ENSG00000141837.18
HGNCiHGNC:1388 CACNA1A
MIMi601011 gene
neXtProtiNX_O00555

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 98CytoplasmicSequence analysisAdd BLAST98
Transmembranei99 – 117Helical; Name=S1 of repeat ISequence analysisAdd BLAST19
Topological domaini118 – 135ExtracellularSequence analysisAdd BLAST18
Transmembranei136 – 155Helical; Name=S2 of repeat ISequence analysisAdd BLAST20
Topological domaini156 – 167CytoplasmicSequence analysisAdd BLAST12
Transmembranei168 – 185Helical; Name=S3 of repeat ISequence analysisAdd BLAST18
Topological domaini186 – 190ExtracellularSequence analysis5
Transmembranei191 – 209Helical; Name=S4 of repeat ISequence analysisAdd BLAST19
Topological domaini210 – 228CytoplasmicSequence analysisAdd BLAST19
Transmembranei229 – 248Helical; Name=S5 of repeat ISequence analysisAdd BLAST20
Topological domaini249 – 335ExtracellularSequence analysisAdd BLAST87
Transmembranei336 – 360Helical; Name=S6 of repeat ISequence analysisAdd BLAST25
Topological domaini361 – 486CytoplasmicSequence analysisAdd BLAST126
Transmembranei487 – 505Helical; Name=S1 of repeat IISequence analysisAdd BLAST19
Topological domaini506 – 520ExtracellularSequence analysisAdd BLAST15
Transmembranei521 – 540Helical; Name=S2 of repeat IISequence analysisAdd BLAST20
Topological domaini541 – 548CytoplasmicSequence analysis8
Transmembranei549 – 567Helical; Name=S3 of repeat IISequence analysisAdd BLAST19
Topological domaini568 – 577ExtracellularSequence analysis10
Transmembranei578 – 596Helical; Name=S4 of repeat IISequence analysisAdd BLAST19
Topological domaini597 – 615CytoplasmicSequence analysisAdd BLAST19
Transmembranei616 – 635Helical; Name=S5 of repeat IISequence analysisAdd BLAST20
Topological domaini636 – 688ExtracellularSequence analysisAdd BLAST53
Transmembranei689 – 713Helical; Name=S6 of repeat IISequence analysisAdd BLAST25
Topological domaini714 – 1241CytoplasmicSequence analysisAdd BLAST528
Transmembranei1242 – 1260Helical; Name=S1 of repeat IIISequence analysisAdd BLAST19
Topological domaini1261 – 1276ExtracellularSequence analysisAdd BLAST16
Transmembranei1277 – 1296Helical; Name=S2 of repeat IIISequence analysisAdd BLAST20
Topological domaini1297 – 1308CytoplasmicSequence analysisAdd BLAST12
Transmembranei1309 – 1327Helical; Name=S3 of repeat IIISequence analysisAdd BLAST19
Topological domaini1328 – 1338ExtracellularSequence analysisAdd BLAST11
Transmembranei1339 – 1357Helical; Name=S4 of repeat IIISequence analysisAdd BLAST19
Topological domaini1358 – 1376CytoplasmicSequence analysisAdd BLAST19
Transmembranei1377 – 1396Helical; Name=S5 of repeat IIISequence analysisAdd BLAST20
Topological domaini1397 – 1483ExtracellularSequence analysisAdd BLAST87
Transmembranei1484 – 1508Helical; Name=S6 of repeat IIISequence analysisAdd BLAST25
Topological domaini1509 – 1563CytoplasmicSequence analysisAdd BLAST55
Transmembranei1564 – 1592Helical; Name=S1 of repeat IVSequence analysisAdd BLAST29
Topological domaini1593 – 1597ExtracellularSequence analysis5
Transmembranei1598 – 1617Helical; Name=S2 of repeat IVSequence analysisAdd BLAST20
Topological domaini1618 – 1625CytoplasmicSequence analysis8
Transmembranei1626 – 1644Helical; Name=S3 of repeat IVSequence analysisAdd BLAST19
Topological domaini1645 – 1651ExtracellularSequence analysis7
Transmembranei1652 – 1670Helical; Name=S4 of repeat IVSequence analysisAdd BLAST19
Topological domaini1671 – 1689CytoplasmicSequence analysisAdd BLAST19
Transmembranei1690 – 1709Helical; Name=S5 of repeat IVSequence analysisAdd BLAST20
Topological domaini1710 – 1781ExtracellularSequence analysisAdd BLAST72
Transmembranei1782 – 1806Helical; Name=S6 of repeat IVSequence analysisAdd BLAST25
Topological domaini1807 – 2506CytoplasmicSequence analysisAdd BLAST700

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Spinocerebellar ataxia 6 (SCA6)5 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionSpinocerebellar 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.
See also OMIM:183086
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_063685405A → T in SCA6. 1 PublicationCorresponds to variant dbSNP:rs121908245EnsemblClinVar.1
Natural variantiVAR_0636911663R → Q in SCA6; also found in patients with global developmental delay and congenital ataxia; loss of function observed in the Drosophila homolog. By similarity2 PublicationsCorresponds to variant dbSNP:rs121908247Ensembl.1
Migraine, familial hemiplegic, 1 (FHM1)9 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:141500
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_001491192R → Q in FHM1. 1 PublicationCorresponds to variant dbSNP:rs121908211EnsemblClinVar.1
Natural variantiVAR_043820195R → K in FHM1. 1 PublicationCorresponds to variant dbSNP:rs121908222EnsemblClinVar.1
Natural variantiVAR_043821218S → L in FHM1. 1 PublicationCorresponds to variant dbSNP:rs121908225EnsemblClinVar.1
Natural variantiVAR_043826582R → Q in FHM1. 2 PublicationsCorresponds to variant dbSNP:rs121908217Ensembl.1
Natural variantiVAR_001493713V → A in FHM1. 1 PublicationCorresponds to variant dbSNP:rs121908213Ensembl.1
Natural variantiVAR_043827714D → E in FHM1. 1 PublicationCorresponds to variant dbSNP:rs121908218Ensembl.1
Natural variantiVAR_0438291334K → E in FHM1. 1 PublicationCorresponds to variant dbSNP:rs121908223Ensembl.1
Natural variantiVAR_0438301345R → Q in FHM1; with progressive cerebellar ataxia. 2 PublicationsCorresponds to variant dbSNP:rs121908230Ensembl.1
Natural variantiVAR_0438311383Y → C in FHM1. 1 PublicationCorresponds to variant dbSNP:rs121908219Ensembl.1
Natural variantiVAR_0438331455V → L in FHM1. 1 PublicationCorresponds to variant dbSNP:rs121908237Ensembl.1
Natural variantiVAR_0770741501Missing in FHM1; increased high voltage-gated calcium channel activity. 2 Publications1
Natural variantiVAR_0438381666R → W in FHM1. 1 PublicationCorresponds to variant dbSNP:rs121908220Ensembl.1
Natural variantiVAR_0438391682W → R in FHM1. 1 PublicationCorresponds to variant dbSNP:rs121908221Ensembl.1
Natural variantiVAR_0637061694V → I in FHM1. 1 PublicationCorresponds to variant dbSNP:rs121908224Ensembl.1
Natural variantiVAR_0014941809I → L in FHM1. 1 PublicationCorresponds to variant dbSNP:rs121908214Ensembl.1
Episodic ataxia 2 (EA2)13 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant disorder characterized by acetozolamide-responsive attacks of ataxia, migraine-like symptoms, interictal nystagmus, and cerebellar atrophy.
See also OMIM:108500
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_063683248Y → C in EA2. 1 PublicationCorresponds to variant dbSNP:rs121908238EnsemblClinVar.1
Natural variantiVAR_043822253H → Y in EA2. 1 PublicationCorresponds to variant dbSNP:rs121908228EnsemblClinVar.1
Natural variantiVAR_043823256C → R in EA2. 1 PublicationCorresponds to variant dbSNP:rs121908231EnsemblClinVar.1
Natural variantiVAR_043824287C → Y in EA2. 1 PublicationCorresponds to variant dbSNP:rs121908236EnsemblClinVar.1
Natural variantiVAR_067342388E → K in EA2. 1 Publication1
Natural variantiVAR_063684389L → F in EA2. 1 PublicationCorresponds to variant dbSNP:rs121908239EnsemblClinVar.1
Natural variantiVAR_063687500T → M in EA2. 1 PublicationCorresponds to variant dbSNP:rs121908240Ensembl.1
Natural variantiVAR_063688637G → D in EA2; reduces P/Q current densities. 1 PublicationCorresponds to variant dbSNP:rs121908246Ensembl.1
Natural variantiVAR_063689797M → T in EA2. 1 PublicationCorresponds to variant dbSNP:rs121908241Ensembl.1
Natural variantiVAR_063690896P → R in EA2. 1 PublicationCorresponds to variant dbSNP:rs121908242Ensembl.1
Natural variantiVAR_0438321402F → C in EA2; loss of function. 1 PublicationCorresponds to variant dbSNP:rs121908227Ensembl.1
Natural variantiVAR_0438341481G → R in EA2. 1 PublicationCorresponds to variant dbSNP:rs121908232Ensembl.1
Natural variantiVAR_0438351489F → S in EA2. 1 PublicationCorresponds to variant dbSNP:rs121908233Ensembl.1
Natural variantiVAR_0438361492V → I in EA2. 1 PublicationCorresponds to variant dbSNP:rs121908234Ensembl.1
Natural variantiVAR_0438371660R → H in EA2. 1 PublicationCorresponds to variant dbSNP:rs121908216Ensembl.1
Natural variantiVAR_0636921678R → C in EA2. 1 PublicationCorresponds to variant dbSNP:rs121908243Ensembl.1
Natural variantiVAR_0438401735H → L in EA2; changed high voltage-gated calcium channel activity. 1 PublicationCorresponds to variant dbSNP:rs121908229Ensembl.1
Natural variantiVAR_0438411755E → K in EA2. 1 PublicationCorresponds to variant dbSNP:rs121908226Ensembl.1
Natural variantiVAR_0636931868C → R in EA2. 1 PublicationCorresponds to variant dbSNP:rs121908244Ensembl.1
Natural variantiVAR_0438422134R → C in EA2. 1 PublicationCorresponds to variant dbSNP:rs121908235Ensembl.1
Epileptic encephalopathy, early infantile, 42 (EIEE42)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of epileptic encephalopathy, a heterogeneous group of severe childhood 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. EIEE42 inheritance is autosomal dominant.
See also OMIM:617106
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_077071101E → Q in EIEE42. 1 Publication1
Natural variantiVAR_077072712A → T in EIEE42. 1 Publication1
Natural variantiVAR_0770731435W → R in EIEE42. 1 Publication1
Natural variantiVAR_0770751507A → S in EIEE42. 1 Publication1

Keywords - Diseasei

Disease mutation, Epilepsy, Neurodegeneration, Spinocerebellar ataxia

Organism-specific databases

DisGeNETi773
GeneReviewsiCACNA1A
MalaCardsiCACNA1A
MIMi108500 phenotype
141500 phenotype
183086 phenotype
617106 phenotype
OpenTargetsiENSG00000141837
Orphaneti2131 Alternating hemiplegia of childhood
71518 Benign paroxysmal torticollis of infancy
569 Familial or sporadic hemiplegic migraine
97 Familial paroxysmal ataxia
98758 Spinocerebellar ataxia type 6
PharmGKBiPA26007

Chemistry databases

ChEMBLiCHEMBL4266
DrugBankiDB01244 Bepridil
DB00836 Loperamide
DB00230 Pregabalin
DB00421 Spironolactone
DB00661 Verapamil

Polymorphism and mutation databases

BioMutaiCACNA1A

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000539161 – 2506Voltage-dependent P/Q-type calcium channel subunit alpha-1AAdd BLAST2506

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi283N-linked (GlcNAc...) asparagineSequence analysis1
Modified residuei409PhosphothreonineBy similarity1
Modified residuei447PhosphoserineBy similarity1
Modified residuei450PhosphoserineBy similarity1
Modified residuei749PhosphoserineBy similarity1
Modified residuei752PhosphoserineBy similarity1
Modified residuei789PhosphoserineBy similarity1
Modified residuei1084PhosphoserineBy similarity1
Modified residuei1093PhosphoserineBy similarity1
Modified residuei1821Phosphoserine; by PKASequence analysis1
Modified residuei1983PhosphothreonineBy similarity1
Modified residuei2046PhosphoserineBy similarity1
Modified residuei2064PhosphoserineBy similarity1
Modified residuei2076PhosphoserineBy similarity1
Modified residuei2078PhosphoserineBy similarity1
Modified residuei2119PhosphoserineBy similarity1
Modified residuei2139PhosphoserineBy similarity1

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

MaxQBiO00555
PaxDbiO00555
PeptideAtlasiO00555
PRIDEiO00555
ProteomicsDBi47966
47967 [O00555-2]
47968 [O00555-3]
47969 [O00555-4]
47970 [O00555-5]
47971 [O00555-6]

PTM databases

iPTMnetiO00555
PhosphoSitePlusiO00555

Expressioni

Tissue specificityi

Brain specific; mainly found in cerebellum, cerebral cortex, thalamus and hypothalamus. Expressed in the small cell lung carcinoma cell line SCC-9. No expression in heart, kidney, liver or muscle. Purkinje cells contain predominantly P-type VSCC, the Q-type being a prominent calcium current in cerebellar granule cells.1 Publication

Gene expression databases

BgeeiENSG00000141837 Expressed in 198 organ(s), highest expression level in right hemisphere of cerebellum
ExpressionAtlasiO00555 baseline and differential
GenevisibleiO00555 HS

Organism-specific databases

HPAiHPA064258
HPA071902

Interactioni

Subunit structurei

Voltage-dependent calcium channels are multisubunit complexes, consisting of alpha-1, alpha-2, beta and delta subunits in a 1:1:1:1 ratio. The channel activity is directed by the pore-forming and voltage-sensitive alpha-1 subunit. In many cases, this subunit is sufficient to generate voltage-sensitive calcium channel activity. The auxiliary subunits beta and alpha-2/delta linked by a disulfide bridge regulate the channel activity. Interact (via C-terminal CDB motif) with CABP1 in the pre- and postsynaptic membranes. Interacts with the spider omega-agatoxin-IVA (AC P30288).By similarity1 Publication

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

BioGridi107227, 100 interactors
CORUMiO00555
IntActiO00555, 92 interactors
MINTiO00555
STRINGi9606.ENSP00000353362

Chemistry databases

BindingDBiO00555

Structurei

Secondary structure

12506
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliO00555
SMRiO00555
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiO00555

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati85 – 363IAdd BLAST279
Repeati472 – 716IIAdd BLAST245
Repeati1230 – 1513IIIAdd BLAST284
Repeati1550 – 1813IVAdd BLAST264

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni383 – 400Binding to the beta subunitBy similarityAdd BLAST18

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi13 – 18Poly-Gly6
Compositional biasi726 – 731Poly-Glu6
Compositional biasi1001 – 1006Poly-Arg6
Compositional biasi1203 – 1206Poly-Glu4
Compositional biasi2210 – 2219Poly-His10
Compositional biasi2220 – 2223Poly-Pro4
Compositional biasi2313 – 2323Poly-GlnAdd BLAST11

Domaini

Each of the four internal repeats contains five hydrophobic transmembrane segments (S1, S2, S3, S5, S6) and one positively charged transmembrane segment (S4). S4 segments probably represent the voltage-sensor and are characterized by a series of positively charged amino acids at every third position.

Sequence similaritiesi

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG2301 Eukaryota
ENOG410XNP6 LUCA
GeneTreeiENSGT00830000128247
HOGENOMiHOG000231530
HOVERGENiHBG050763
InParanoidiO00555
KOiK04344
PhylomeDBiO00555
TreeFamiTF312805

Family and domain databases

Gene3Di1.20.120.350, 4 hits
InterProiView protein in InterPro
IPR005448 CACNA1A
IPR031649 GPHH_dom
IPR005821 Ion_trans_dom
IPR014873 VDCC_a1su_IQ
IPR002077 VDCCAlpha1
IPR027359 Volt_channel_dom_sf
PfamiView protein in Pfam
PF08763 Ca_chan_IQ, 1 hit
PF16905 GPHH, 1 hit
PF00520 Ion_trans, 4 hits
PRINTSiPR00167 CACHANNEL
PR01632 PQVDCCALPHA1
SMARTiView protein in SMART
SM01062 Ca_chan_IQ, 1 hit

Sequences (6+)i

Sequence statusi: Complete.

This entry describes 6 isoformsi produced by alternative splicing. AlignAdd to basket
Note: Additional isoforms seem to exist.

This entry has 6 described isoforms and 21 potential isoforms that are computationally mapped.iShow all

Isoform 1 (identifier: O00555-8) [UniParc]FASTAAdd to basket
Also known as: 1A-1, BI-1-GGCAG1 Publication

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

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        10         20         30         40         50
MARFGDEMPA RYGGGGSGAA AGVVVGSGGG RGAGGSRQGG QPGAQRMYKQ
60 70 80 90 100
SMAQRARTMA LYNPIPVRQN CLTVNRSLFL FSEDNVVRKY AKKITEWPPF
110 120 130 140 150
EYMILATIIA NCIVLALEQH LPDDDKTPMS ERLDDTEPYF IGIFCFEAGI
160 170 180 190 200
KIIALGFAFH KGSYLRNGWN VMDFVVVLTG ILATVGTEFD LRTLRAVRVL
210 220 230 240 250
RPLKLVSGIP SLQVVLKSIM KAMIPLLQIG LLLFFAILIF AIIGLEFYMG
260 270 280 290 300
KFHTTCFEEG TDDIQGESPA PCGTEEPART CPNGTKCQPY WEGPNNGITQ
310 320 330 340 350
FDNILFAVLT VFQCITMEGW TDLLYNSNDA SGNTWNWLYF IPLIIIGSFF
360 370 380 390 400
MLNLVLGVLS GEFAKERERV ENRRAFLKLR RQQQIERELN GYMEWISKAE
410 420 430 440 450
EVILAEDETD GEQRHPFDAL RRTTIKKSKT DLLNPEEAED QLADIASVGS
460 470 480 490 500
PFARASIKSA KLENSTFFHK KERRMRFYIR RMVKTQAFYW TVLSLVALNT
510 520 530 540 550
LCVAIVHYNQ PEWLSDFLYY AEFIFLGLFM SEMFIKMYGL GTRPYFHSSF
560 570 580 590 600
NCFDCGVIIG SIFEVIWAVI KPGTSFGISV LRALRLLRIF KVTKYWASLR
610 620 630 640 650
NLVVSLLNSM KSIISLLFLL FLFIVVFALL GMQLFGGQFN FDEGTPPTNF
660 670 680 690 700
DTFPAAIMTV FQILTGEDWN EVMYDGIKSQ GGVQGGMVFS IYFIVLTLFG
710 720 730 740 750
NYTLLNVFLA IAVDNLANAQ ELTKDEQEEE EAANQKLALQ KAKEVAEVSP
760 770 780 790 800
LSAANMSIAV KEQQKNQKPA KSVWEQRTSE MRKQNLLASR EALYNEMDPD
810 820 830 840 850
ERWKAAYTRH LRPDMKTHLD RPLVVDPQEN RNNNTNKSRA AEPTVDQRLG
860 870 880 890 900
QQRAEDFLRK QARYHDRARD PSGSAGLDAR RPWAGSQEAE LSREGPYGRE
910 920 930 940 950
SDHHAREGSL EQPGFWEGEA ERGKAGDPHR RHVHRQGGSR ESRSGSPRTG
960 970 980 990 1000
ADGEHRRHRA HRRPGEEGPE DKAERRARHR EGSRPARGGE GEGEGPDGGE
1010 1020 1030 1040 1050
RRRRHRHGAP ATYEGDARRE DKERRHRRRK ENQGSGVPVS GPNLSTTRPI
1060 1070 1080 1090 1100
QQDLGRQDPP LAEDIDNMKN NKLATAESAA PHGSLGHAGL PQSPAKMGNS
1110 1120 1130 1140 1150
TDPGPMLAIP AMATNPQNAA SRRTPNNPGN PSNPGPPKTP ENSLIVTNPS
1160 1170 1180 1190 1200
GTQTNSAKTA RKPDHTTVDI PPACPPPLNH TVVQVNKNAN PDPLPKKEEE
1210 1220 1230 1240 1250
KKEEEEDDRG EDGPKPMPPY SSMFILSTTN PLRRLCHYIL NLRYFEMCIL
1260 1270 1280 1290 1300
MVIAMSSIAL AAEDPVQPNA PRNNVLRYFD YVFTGVFTFE MVIKMIDLGL
1310 1320 1330 1340 1350
VLHQGAYFRD LWNILDFIVV SGALVAFAFT GNSKGKDINT IKSLRVLRVL
1360 1370 1380 1390 1400
RPLKTIKRLP KLKAVFDCVV NSLKNVFNIL IVYMLFMFIF AVVAVQLFKG
1410 1420 1430 1440 1450
KFFHCTDESK EFEKDCRGKY LLYEKNEVKA RDREWKKYEF HYDNVLWALL
1460 1470 1480 1490 1500
TLFTVSTGEG WPQVLKHSVD ATFENQGPSP GYRMEMSIFY VVYFVVFPFF
1510 1520 1530 1540 1550
FVNIFVALII ITFQEQGDKM MEEYSLEKNE RACIDFAISA KPLTRHMPQN
1560 1570 1580 1590 1600
KQSFQYRMWQ FVVSPPFEYT IMAMIALNTI VLMMKFYGAS VAYENALRVF
1610 1620 1630 1640 1650
NIVFTSLFSL ECVLKVMAFG ILNYFRDAWN IFDFVTVLGS ITDILVTEFG
1660 1670 1680 1690 1700
NNFINLSFLR LFRAARLIKL LRQGYTIRIL LWTFVQSFKA LPYVCLLIAM
1710 1720 1730 1740 1750
LFFIYAIIGM QVFGNIGIDV EDEDSDEDEF QITEHNNFRT FFQALMLLFR
1760 1770 1780 1790 1800
SATGEAWHNI MLSCLSGKPC DKNSGILTRE CGNEFAYFYF VSFIFLCSFL
1810 1820 1830 1840 1850
MLNLFVAVIM DNFEYLTRDS SILGPHHLDE YVRVWAEYDP AAWGRMPYLD
1860 1870 1880 1890 1900
MYQMLRHMSP PLGLGKKCPA RVAYKRLLRM DLPVADDNTV HFNSTLMALI
1910 1920 1930 1940 1950
RTALDIKIAK GGADKQQMDA ELRKEMMAIW PNLSQKTLDL LVTPHKSTDL
1960 1970 1980 1990 2000
TVGKIYAAMM IMEYYRQSKA KKLQAMREEQ DRTPLMFQRM EPPSPTQEGG
2010 2020 2030 2040 2050
PGQNALPSTQ LDPGGALMAH ESGLKESPSW VTQRAQEMFQ KTGTWSPEQG
2060 2070 2080 2090 2100
PPTDMPNSQP NSQSVEMREM GRDGYSDSEH YLPMEGQGRA ASMPRLPAEN
2110 2120 2130 2140 2150
QRRRGRPRGN NLSTISDTSP MKRSASVLGP KARRLDDYSL ERVPPEENQR
2160 2170 2180 2190 2200
HHQRRRDRSH RASERSLGRY TDVDTGLGTD LSMTTQSGDL PSKERDQERG
2210 2220 2230 2240 2250
RPKDRKHRQH HHHHHHHHHP PPPDKDRYAQ ERPDHGRARA RDQRWSRSPS
2260 2270 2280 2290 2300
EGREHMAHRQ GSSSVSGSPA PSTSGTSTPR RGRRQLPQTP STPRPHVSYS
2310 2320 2330 2340 2350
PVIRKAGGSG PPQQQQQQQQ QQQQQAVARP GRAATSGPRR YPGPTAEPLA
2360 2370 2380 2390 2400
GDRPPTGGHS SGRSPRMERR VPGPARSESP RACRHGGARW PASGPHVSEG
2410 2420 2430 2440 2450
PPGPRHHGYY RGSDYDEADG PGSGGGEEAM AGAYDAPPPV RHASSGATGR
2460 2470 2480 2490 2500
SPRTPRASGP ACASPSRHGR RLPNGYYPAH GLARPRGPGS RKGLHEPYSE

SDDDWC
Length:2,506
Mass (Da):282,564
Last modified:September 12, 2018 - v3
Checksum:iAEDF4D2A5E49263F
GO
Isoform 2 (identifier: O00555-2) [UniParc]FASTAAdd to basket
Also known as: 1A-2, BI-11 Publication

The sequence of this isoform differs from the canonical sequence as follows:
     418-418: D → DG
     724-724: K → KVEA
     1650-1650: G → GNP
     2261-2506: Missing.

Show »
Length:2,266
Mass (Da):257,443
Checksum:i70EDC422B08A1775
GO
Isoform 3 (identifier: O00555-3) [UniParc]FASTAAdd to basket
Also known as: BI-1(V1)1 Publication

The sequence of this isoform differs from the canonical sequence as follows:
     418-418: D → DG
     1843-1858: WGRMPYLDMYQMLRHM → CGRIHYKDMYSLLRVI
     1870-1874: ARVAY → HRVAC
     2261-2506: Missing.

Show »
Length:2,261
Mass (Da):256,777
Checksum:i41408D8C7EB70094
GO
Isoform 4 (identifier: O00555-4) [UniParc]FASTAAdd to basket
Also known as: BI-1(V1)-GGCAG1 Publication

The sequence of this isoform differs from the canonical sequence as follows:
     418-418: D → DG
     1843-1858: WGRMPYLDMYQMLRHM → CGRIHYKDMYSLLRVI
     1870-1874: ARVAY → HRVAC
     2323-2324: Missing.

Show »
Length:2,505
Mass (Da):282,209
Checksum:iED4AA00D118EF46B
GO
Isoform 5 (identifier: O00555-5) [UniParc]FASTAAdd to basket
Also known as: BI-1(V2)1 Publication

The sequence of this isoform differs from the canonical sequence as follows:
     418-418: D → DG
     2102-2113: Missing.
     2261-2506: Missing.

Show »
Length:2,249
Mass (Da):255,511
Checksum:i729D79965A9714A4
GO
Isoform 6 (identifier: O00555-6) [UniParc]FASTAAdd to basket
Also known as: BI-1(V2)-GGCAG1 Publication

The sequence of this isoform differs from the canonical sequence as follows:
     418-418: D → DG
     2102-2113: Missing.
     2323-2324: Missing.

Show »
Length:2,493
Mass (Da):280,944
Checksum:i212024798B9867E3
GO

Computationally mapped potential isoform sequencesi

There are 21 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A087WW63A0A087WW63_HUMAN
Voltage-dependent P/Q-type calcium ...
CACNA1A
2,512Annotation score:
B5TYJ1B5TYJ1_HUMAN
Voltage-dependent P/Q-type calcium ...
CACNA1A
2,263Annotation score:
A0A1B0GVQ9A0A1B0GVQ9_HUMAN
Voltage-dependent P/Q-type calcium ...
CACNA1A
2,266Annotation score:
A0A1B0GUS3A0A1B0GUS3_HUMAN
Voltage-dependent P/Q-type calcium ...
CACNA1A
2,495Annotation score:
A0A1C7CYY9A0A1C7CYY9_HUMAN
Voltage-dependent P/Q-type calcium ...
CACNA1A
2,508Annotation score:
A0A1B0GTW2A0A1B0GTW2_HUMAN
Voltage-dependent P/Q-type calcium ...
CACNA1A
2,460Annotation score:
A0A1B0GU74A0A1B0GU74_HUMAN
Voltage-dependent P/Q-type calcium ...
CACNA1A
2,302Annotation score:
A0A1B0GTI4A0A1B0GTI4_HUMAN
Voltage-dependent P/Q-type calcium ...
CACNA1A
2,262Annotation score:
A0A1B0GTN7A0A1B0GTN7_HUMAN
Voltage-dependent P/Q-type calcium ...
CACNA1A
2,507Annotation score:
A0A1B0GU81A0A1B0GU81_HUMAN
Voltage-dependent P/Q-type calcium ...
CACNA1A
2,507Annotation score:
There are more potential isoformsShow all

Sequence cautioni

The sequence AAB49678 differs from that shown. Aberrant splicing.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti895G → D in CAA68172 (PubMed:8898206).Curated1
Sequence conflicti895G → D in BAA94766 (PubMed:10753886).Curated1
Sequence conflicti952D → N in BAA94766 (PubMed:10753886).Curated1
Sequence conflicti963R → S in BAA94766 (PubMed:10753886).Curated1
Sequence conflicti1206E → EE in CAA68172 (PubMed:8898206).Curated1
Sequence conflicti1312 – 1314WNI → ILP in AAB49674 (PubMed:8988170).Curated3
Sequence conflicti1312 – 1314WNI → ILP in AAB49675 (PubMed:8988170).Curated3
Sequence conflicti1312 – 1314WNI → ILP in AAB49676 (PubMed:8988170).Curated3
Sequence conflicti1312 – 1314WNI → ILP in AAB49677 (PubMed:8988170).Curated3
Sequence conflicti1312 – 1314WNI → ILP in AAB49678 (PubMed:8988170).Curated3
Sequence conflicti1458G → A in CAA68172 (PubMed:8898206).Curated1
Sequence conflicti1603V → A in CAA68172 (PubMed:8898206).Curated1
Sequence conflicti1616V → A in CAA68172 (PubMed:8898206).Curated1
Sequence conflicti1692P → A in AAB33068 (PubMed:7823133).Curated1
Sequence conflicti2037E → G in U06702 (PubMed:8525433).Curated1
Sequence conflicti2325Missing in AAB49676 (PubMed:8988170).Curated1
Sequence conflicti2325Missing in AAB49677 (PubMed:8988170).Curated1

Polymorphismi

The poly-Gln region of CACNA1A is polymorphic: 6 to 17 repeats in the normal population, expanded to about 21 to 30 repeats in SCA6. Repeat expansion has been reported also in a EA2 family.1 Publication

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01445621A → V. Corresponds to variant dbSNP:rs15999EnsemblClinVar.1
Natural variantiVAR_077071101E → Q in EIEE42. 1 Publication1
Natural variantiVAR_001491192R → Q in FHM1. 1 PublicationCorresponds to variant dbSNP:rs121908211EnsemblClinVar.1
Natural variantiVAR_043820195R → K in FHM1. 1 PublicationCorresponds to variant dbSNP:rs121908222EnsemblClinVar.1
Natural variantiVAR_043821218S → L in FHM1. 1 PublicationCorresponds to variant dbSNP:rs121908225EnsemblClinVar.1
Natural variantiVAR_063683248Y → C in EA2. 1 PublicationCorresponds to variant dbSNP:rs121908238EnsemblClinVar.1
Natural variantiVAR_043822253H → Y in EA2. 1 PublicationCorresponds to variant dbSNP:rs121908228EnsemblClinVar.1
Natural variantiVAR_043823256C → R in EA2. 1 PublicationCorresponds to variant dbSNP:rs121908231EnsemblClinVar.1
Natural variantiVAR_043824287C → Y in EA2. 1 PublicationCorresponds to variant dbSNP:rs121908236EnsemblClinVar.1
Natural variantiVAR_043825293G → R in EA2 and SCA6. 2 PublicationsCorresponds to variant dbSNP:rs121908215EnsemblClinVar.1
Natural variantiVAR_067342388E → K in EA2. 1 Publication1
Natural variantiVAR_063684389L → F in EA2. 1 PublicationCorresponds to variant dbSNP:rs121908239EnsemblClinVar.1
Natural variantiVAR_063685405A → T in SCA6. 1 PublicationCorresponds to variant dbSNP:rs121908245EnsemblClinVar.1
Natural variantiVAR_063686453A → T1 PublicationCorresponds to variant dbSNP:rs41276886Ensembl.1
Natural variantiVAR_063687500T → M in EA2. 1 PublicationCorresponds to variant dbSNP:rs121908240Ensembl.1
Natural variantiVAR_043826582R → Q in FHM1. 2 PublicationsCorresponds to variant dbSNP:rs121908217Ensembl.1
Natural variantiVAR_063688637G → D in EA2; reduces P/Q current densities. 1 PublicationCorresponds to variant dbSNP:rs121908246Ensembl.1
Natural variantiVAR_001492665T → M in FHM1 and EA2. 3 PublicationsCorresponds to variant dbSNP:rs121908212Ensembl.1
Natural variantiVAR_077072712A → T in EIEE42. 1 Publication1
Natural variantiVAR_001493713V → A in FHM1. 1 PublicationCorresponds to variant dbSNP:rs121908213Ensembl.1
Natural variantiVAR_043827714D → E in FHM1. 1 PublicationCorresponds to variant dbSNP:rs121908218Ensembl.1
Natural variantiVAR_059221731E → A. Corresponds to variant dbSNP:rs16019Ensembl.1
Natural variantiVAR_063689797M → T in EA2. 1 PublicationCorresponds to variant dbSNP:rs121908241Ensembl.1
Natural variantiVAR_063690896P → R in EA2. 1 PublicationCorresponds to variant dbSNP:rs121908242Ensembl.1
Natural variantiVAR_014458913P → S. Corresponds to variant dbSNP:rs16020Ensembl.1
Natural variantiVAR_014459917E → D2 PublicationsCorresponds to variant dbSNP:rs16022Ensembl.1
Natural variantiVAR_043828992E → V3 PublicationsCorresponds to variant dbSNP:rs16023Ensembl.1
Natural variantiVAR_0144611014E → K. Corresponds to variant dbSNP:rs16024Ensembl.1
Natural variantiVAR_0144621104G → S2 PublicationsCorresponds to variant dbSNP:rs16027Ensembl.1
Natural variantiVAR_0592221172P → L. Corresponds to variant dbSNP:rs16028Ensembl.1
Natural variantiVAR_0438291334K → E in FHM1. 1 PublicationCorresponds to variant dbSNP:rs121908223Ensembl.1
Natural variantiVAR_0438301345R → Q in FHM1; with progressive cerebellar ataxia. 2 PublicationsCorresponds to variant dbSNP:rs121908230Ensembl.1
Natural variantiVAR_0438311383Y → C in FHM1. 1 PublicationCorresponds to variant dbSNP:rs121908219Ensembl.1
Natural variantiVAR_0438321402F → C in EA2; loss of function. 1 PublicationCorresponds to variant dbSNP:rs121908227Ensembl.1
Natural variantiVAR_0770731435W → R in EIEE42. 1 Publication1
Natural variantiVAR_0438331455V → L in FHM1. 1 PublicationCorresponds to variant dbSNP:rs121908237Ensembl.1
Natural variantiVAR_0438341481G → R in EA2. 1 PublicationCorresponds to variant dbSNP:rs121908232Ensembl.1
Natural variantiVAR_0438351489F → S in EA2. 1 PublicationCorresponds to variant dbSNP:rs121908233Ensembl.1
Natural variantiVAR_0438361492V → I in EA2. 1 PublicationCorresponds to variant dbSNP:rs121908234Ensembl.1
Natural variantiVAR_0770741501Missing in FHM1; increased high voltage-gated calcium channel activity. 2 Publications1
Natural variantiVAR_0770751507A → S in EIEE42. 1 Publication1
Natural variantiVAR_0438371660R → H in EA2. 1 PublicationCorresponds to variant dbSNP:rs121908216Ensembl.1
Natural variantiVAR_0636911663R → Q in SCA6; also found in patients with global developmental delay and congenital ataxia; loss of function observed in the Drosophila homolog. By similarity2 PublicationsCorresponds to variant dbSNP:rs121908247Ensembl.1
Natural variantiVAR_0438381666R → W in FHM1. 1 PublicationCorresponds to variant dbSNP:rs121908220Ensembl.1
Natural variantiVAR_0798261672R → P Also found in patients with global developmental delay and congenital ataxia; gain of function observed in the Drosophila homolog. By similarity1 Publication1
Natural variantiVAR_0636921678R → C in EA2. 1 PublicationCorresponds to variant dbSNP:rs121908243Ensembl.1
Natural variantiVAR_0438391682W → R in FHM1. 1 PublicationCorresponds to variant dbSNP:rs121908221Ensembl.1
Natural variantiVAR_0637061694V → I in FHM1. 1 PublicationCorresponds to variant dbSNP:rs121908224Ensembl.1
Natural variantiVAR_0438401735H → L in EA2; changed high voltage-gated calcium channel activity. 1 PublicationCorresponds to variant dbSNP:rs121908229Ensembl.1
Natural variantiVAR_0438411755E → K in EA2. 1 PublicationCorresponds to variant dbSNP:rs121908226Ensembl.1
Natural variantiVAR_0014941809I → L in FHM1. 1 PublicationCorresponds to variant dbSNP:rs121908214Ensembl.1
Natural variantiVAR_0636931868C → R in EA2. 1 PublicationCorresponds to variant dbSNP:rs121908244Ensembl.1
Natural variantiVAR_0438422134R → C in EA2. 1 PublicationCorresponds to variant dbSNP:rs121908235Ensembl.1
Natural variantiVAR_0144632395P → S. Corresponds to variant dbSNP:rs16056Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_059675418D → DG in isoform 2, isoform 3, isoform 4, isoform 5 and isoform 6. 1
Alternative sequenceiVSP_059676724K → KVEA in isoform 2. 1
Alternative sequenceiVSP_0596771650G → GNP in isoform 2. 1
Alternative sequenceiVSP_0596781843 – 1858WGRMP…MLRHM → CGRIHYKDMYSLLRVI in isoform 3 and isoform 4. Add BLAST16
Alternative sequenceiVSP_0596791870 – 1874ARVAY → HRVAC in isoform 3 and isoform 4. 5
Alternative sequenceiVSP_0596802102 – 2113Missing in isoform 5 and isoform 6. Add BLAST12
Alternative sequenceiVSP_0596812261 – 2506Missing in isoform 2, isoform 3 and isoform 5. Add BLAST246
Alternative sequenceiVSP_0596822323 – 2324Missing in isoform 4 and isoform 6. 2

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF004883 mRNA Translation: AAB61612.1
AF004884 mRNA Translation: AAB61613.1
X99897 mRNA Translation: CAA68172.1
Z80114 Genomic DNA No translation available.
Z80115 Genomic DNA No translation available.
U79663 mRNA Translation: AAB49674.1
U79664 mRNA Translation: AAB49675.1
U79665 mRNA Translation: AAB49676.1
U79666 mRNA Translation: AAB64179.1
U79667 mRNA Translation: AAB49677.1
U79668 mRNA Translation: AAB49678.1 Sequence problems.
AB035727 mRNA Translation: BAA94766.2
AC005305 Genomic DNA Translation: AAC26839.1
AC005513 Genomic DNA No translation available.
AC008540 Genomic DNA No translation available.
AC011446 Genomic DNA No translation available.
AC022436 Genomic DNA No translation available.
AC026805 Genomic DNA No translation available.
AC093062 Genomic DNA No translation available.
AC098781 Genomic DNA No translation available.
AC124224 Genomic DNA No translation available.
S76537 mRNA Translation: AAB33068.1
U06702 mRNA No translation available.
CCDSiCCDS45998.1 [O00555-8]
CCDS45999.1 [O00555-3]
RefSeqiNP_000059.3, NM_000068.3
NP_001120693.1, NM_001127221.1 [O00555-3]
NP_001120694.1, NM_001127222.1 [O00555-8]
NP_001167551.1, NM_001174080.1
NP_075461.2, NM_023035.2
UniGeneiHs.501632

Genome annotation databases

EnsembliENST00000360228; ENSP00000353362; ENSG00000141837 [O00555-8]
ENST00000635895; ENSP00000490323; ENSG00000141837 [O00555-2]
ENST00000637276; ENSP00000489777; ENSG00000141837 [O00555-5]
ENST00000638009; ENSP00000489913; ENSG00000141837 [O00555-3]
GeneIDi773
KEGGihsa:773

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism, Triplet repeat expansion

Similar proteinsi

Cross-referencesi

Web resourcesi

Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A)

Leiden Open Variation Database (LOVD)

Familial hemiplegic migraine (FHM) variation database, calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A)

Leiden Open Variation Database (LOVD)

Undiagnosed Disease Network

CACNA1A

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF004883 mRNA Translation: AAB61612.1
AF004884 mRNA Translation: AAB61613.1
X99897 mRNA Translation: CAA68172.1
Z80114 Genomic DNA No translation available.
Z80115 Genomic DNA No translation available.
U79663 mRNA Translation: AAB49674.1
U79664 mRNA Translation: AAB49675.1
U79665 mRNA Translation: AAB49676.1
U79666 mRNA Translation: AAB64179.1
U79667 mRNA Translation: AAB49677.1
U79668 mRNA Translation: AAB49678.1 Sequence problems.
AB035727 mRNA Translation: BAA94766.2
AC005305 Genomic DNA Translation: AAC26839.1
AC005513 Genomic DNA No translation available.
AC008540 Genomic DNA No translation available.
AC011446 Genomic DNA No translation available.
AC022436 Genomic DNA No translation available.
AC026805 Genomic DNA No translation available.
AC093062 Genomic DNA No translation available.
AC098781 Genomic DNA No translation available.
AC124224 Genomic DNA No translation available.
S76537 mRNA Translation: AAB33068.1
U06702 mRNA No translation available.
CCDSiCCDS45998.1 [O00555-8]
CCDS45999.1 [O00555-3]
RefSeqiNP_000059.3, NM_000068.3
NP_001120693.1, NM_001127221.1 [O00555-3]
NP_001120694.1, NM_001127222.1 [O00555-8]
NP_001167551.1, NM_001174080.1
NP_075461.2, NM_023035.2
UniGeneiHs.501632

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3BXKX-ray2.55B/D1954-1974[»]
ProteinModelPortaliO00555
SMRiO00555
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107227, 100 interactors
CORUMiO00555
IntActiO00555, 92 interactors
MINTiO00555
STRINGi9606.ENSP00000353362

Chemistry databases

BindingDBiO00555
ChEMBLiCHEMBL4266
DrugBankiDB01244 Bepridil
DB00836 Loperamide
DB00230 Pregabalin
DB00421 Spironolactone
DB00661 Verapamil

Protein family/group databases

TCDBi1.A.1.11.27 the voltage-gated ion channel (vic) superfamily

PTM databases

iPTMnetiO00555
PhosphoSitePlusiO00555

Polymorphism and mutation databases

BioMutaiCACNA1A

Proteomic databases

MaxQBiO00555
PaxDbiO00555
PeptideAtlasiO00555
PRIDEiO00555
ProteomicsDBi47966
47967 [O00555-2]
47968 [O00555-3]
47969 [O00555-4]
47970 [O00555-5]
47971 [O00555-6]

Protocols and materials databases

DNASUi773
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000360228; ENSP00000353362; ENSG00000141837 [O00555-8]
ENST00000635895; ENSP00000490323; ENSG00000141837 [O00555-2]
ENST00000637276; ENSP00000489777; ENSG00000141837 [O00555-5]
ENST00000638009; ENSP00000489913; ENSG00000141837 [O00555-3]
GeneIDi773
KEGGihsa:773

Organism-specific databases

CTDi773
DisGeNETi773
EuPathDBiHostDB:ENSG00000141837.18
GeneCardsiCACNA1A
GeneReviewsiCACNA1A
HGNCiHGNC:1388 CACNA1A
HPAiHPA064258
HPA071902
MalaCardsiCACNA1A
MIMi108500 phenotype
141500 phenotype
183086 phenotype
601011 gene
617106 phenotype
neXtProtiNX_O00555
OpenTargetsiENSG00000141837
Orphaneti2131 Alternating hemiplegia of childhood
71518 Benign paroxysmal torticollis of infancy
569 Familial or sporadic hemiplegic migraine
97 Familial paroxysmal ataxia
98758 Spinocerebellar ataxia type 6
PharmGKBiPA26007
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2301 Eukaryota
ENOG410XNP6 LUCA
GeneTreeiENSGT00830000128247
HOGENOMiHOG000231530
HOVERGENiHBG050763
InParanoidiO00555
KOiK04344
PhylomeDBiO00555
TreeFamiTF312805

Enzyme and pathway databases

ReactomeiR-HSA-112308 Presynaptic depolarization and calcium channel opening
R-HSA-422356 Regulation of insulin secretion

Miscellaneous databases

ChiTaRSiCACNA1A human
EvolutionaryTraceiO00555
GeneWikiiCav2.1
GenomeRNAii773
PROiPR:O00555
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000141837 Expressed in 198 organ(s), highest expression level in right hemisphere of cerebellum
ExpressionAtlasiO00555 baseline and differential
GenevisibleiO00555 HS

Family and domain databases

Gene3Di1.20.120.350, 4 hits
InterProiView protein in InterPro
IPR005448 CACNA1A
IPR031649 GPHH_dom
IPR005821 Ion_trans_dom
IPR014873 VDCC_a1su_IQ
IPR002077 VDCCAlpha1
IPR027359 Volt_channel_dom_sf
PfamiView protein in Pfam
PF08763 Ca_chan_IQ, 1 hit
PF16905 GPHH, 1 hit
PF00520 Ion_trans, 4 hits
PRINTSiPR00167 CACHANNEL
PR01632 PQVDCCALPHA1
SMARTiView protein in SMART
SM01062 Ca_chan_IQ, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiCAC1A_HUMAN
AccessioniPrimary (citable) accession number: O00555
Secondary accession number(s): J3KP41
, P78510, P78511, Q16290, Q92690, Q99790, Q99791, Q99792, Q99793, Q9NS88, Q9UDC4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: September 12, 2018
Last modified: September 12, 2018
This is version 192 of the entry and version 3 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome
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Main funding by: National Institutes of Health

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