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    CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit [ Homo sapiens ]

    Gene ID: 773, updated on 19-May-2012
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    Summary

    Official Symbol
    CACNA1Aprovided by HGNC
    Official Full Name
    calcium channel, voltage-dependent, P/Q type, alpha 1A subunitprovided by HGNC
    Primary source
    HGNC:1388
    See related
    Ensembl:ENSG00000141837; HPRD:03004; MIM:601011
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    BI; EA2; FHM; MHP; APCA; HPCA; MHP1; SCA6; CAV2.1; CACNL1A4
    Summary
    Voltage-dependent calcium channels 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, and gene expression. Calcium channels are multisubunit complexes composed of alpha-1, beta, alpha-2/delta, and gamma subunits. The channel activity is directed by the pore-forming alpha-1 subunit, whereas, the others act as auxiliary subunits regulating this activity. The distinctive properties of the calcium channel types are related primarily to the expression of a variety of alpha-1 isoforms, alpha-1A, B, C, D, E, and S. This gene encodes the alpha-1A subunit, which is predominantly expressed in neuronal tissue. Mutations in this gene are associated with 2 neurologic disorders, familial hemiplegic migraine and episodic ataxia 2. This gene also exhibits polymorphic variation due to (CAG)n-repeats. Multiple transcript variants encoding different isoforms have been found for this gene. In one set of transcript variants, the (CAG)n-repeats occur in the 3' UTR, and are not associated with any disease. But in another set of variants, an insertion extends the coding region to include the (CAG)n-repeats which encode a polyglutamine tract. Expansion of the (CAG)n-repeats from the normal 4-16 to 21-28 in the coding region is associated with spinocerebellar ataxia 6. [provided by RefSeq, Mar 2010]
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    Genomic context

    Location :
    19p13
    Sequence :
    Chromosome: 19; NC_000019.9 (13317256..13617274, complement)
    See CACNA1A in Epigenomics, MapViewer

    Chromosome 19 - NC_000019.9Genomic Context describing neighboring genes Neighboring gene ribosomal protein L12 pseudogene 42 Neighboring gene immediate early response 2 Neighboring gene uncharacterized LOC100507353 Neighboring gene coiled-coil domain containing 130

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. Molecular determinants of CaV2.1 channel regulation by calcium-binding protein-1. Few AP, et al. J Biol Chem, 2011 Dec 9. PMID 21965686.
    2. Systematic and quantitative assessment of the ubiquitin-modified proteome. Kim W, et al. Mol Cell, 2011 Oct 21. PMID 21906983.
    3. Episodic ataxias 1 and 2. Baloh RW. Handb Clin Neurol, 2012. PMID 21827920.
    4. Spinocerebellar ataxia type 6. Solodkin A, et al. Handb Clin Neurol, 2012. PMID 21827907.
    5. Functional importance of L- and P/Q-type voltage-gated calcium channels in human renal vasculature. Hansen PB, et al. Hypertension, 2011 Sep. PMID 21788606.

    See all (164) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. Study of episodic ataxia 2 in neurologically mutant mice has implications in humans for a haploinsufficiency mechanism, at least for some of the Cacna1a mutations leading to a premature stop codon.
      Title: Dramatically different levels of Cacna1a gene expression between pre-weaning wild type and leaner mice.
    2. EA2 is caused by mutations in the CACNA1A gene encoding the alpha 1A subunit of the Cav2.1 calcium channel on chromosome 19p13.
      Title: New mutation of CACNA1A gene in episodic ataxia type 2.
    3. analysis of CaV2.1 channel regulation by calcium-binding protein-1
      Title: Molecular determinants of CaV2.1 channel regulation by calcium-binding protein-1.
    4. CACNA1A mutations can give significant symptoms other than (hemiplegic) migraine as reason for presentation.
      Title: Head tremor related to CACNA1A mutations.
    5. Data showed expression of L-type (Ca(v) 1.2), P/Q-type (Ca(v) 2.1), and T-type subtype (Ca(v) 3.1 and Ca(v) 3.2) voltage-gated calcium channels (Ca(v)s) in renal artery and dissected intrarenal blood vessels from nephrectomies.
      Title: Functional importance of L- and P/Q-type voltage-gated calcium channels in human renal vasculature.
    6. CACNA1A mutation association with Episodic ataxias 2.
      Title: Episodic ataxias 1 and 2.
    7. The Spinocerebellar ataxia type 6 is caused by a CAG repeat expansion in the CACNA1A gene which encodes the alpha1A subunit of the P/Q-type voltage-gated calcium channel.
      Title: Spinocerebellar ataxia type 6.
    8. Transgenic leaner mice which carry autosomal recessive mutations in the CACNA1A calcium channel gene show extensive apoptotic cell death in cerebellar granule cells during postnatal development.
      Title: Alterations in intracellular calcium ion concentrations in cerebellar granule cells of the CACNA1A mutant mouse, leaner, during postnatal development.
    9. identified 118 protein interactions for CACNA1A and ATXN7 linking them to other ataxia-causing proteins and the ataxia network; ataxia network is significantly enriched for proteins that interact with known macular degeneration-causing proteins
      Title: Comparison of an expanded ataxia interactome with patient medical records reveals a relationship between macular degeneration and ataxia.
    10. In transgenic knock-in Cacna1a Ser218Leu mice there are progressive and severe release aberrations of acetylcholine in familial hemiplegic migraine type 1.
      Title: Severe and progressive neurotransmitter release aberrations in familial hemiplegic migraine type 1 Cacna1a S218L knock-in mice.
    Submit: New GeneRIF Correction See all (113)
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    Phenotypes

    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Cerebellar ataxia, pure

    Episodic ataxia, type 2

    Summary from GeneReviews: Go to GeneReviews

    Disease Characteristics
    Episodic ataxia type 2 (EA2) is characterized by paroxysmal attacks of ataxia, vertigo, and nausea typically lasting minutes to days in duration. Attacks can be associated with dysarthria, diplopia, tinnitus, dystonia, hemiplegia, and headache. About 50% of individuals with EA2 have migraine headaches. Onset is typically in childhood or early adolescence (age range 2-32 years). Frequency of attacks can range from once or twice a year to three or four times a week. Attacks can be triggered by stress, exertion, caffeine, alcohol, fever, heat, and phenytoin and can be stopped or decreased in frequency and severity by administration of acetazolamide. Between attacks, individuals may initially be asymptomatic but eventually develop interictal findings that can include nystagmus and ataxia.
    Diagnosis Testing
    The diagnosis of EA2 is most commonly made on clinical grounds. MRI can demonstrate atrophy of the cerebellar vermis. Mutations in CACNA1A can cause EA2. Molecular genetic testing is available on a clinical basis for CACNA1A.
    Genetic Counseling
    EA2 is inherited in an autosomal dominant manner. Most individuals with a diagnosis of EA2 have an affected parent. The proportion of cases caused by de novo mutations is unknown. Offspring of affected individuals have a 50% chance of inheriting the disease-causing gene mutation. Prenatal testing is possible for pregnancies at increased risk for EA2 if the mutation has been identified in the family.
    References

    Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia

    Spinocerebellar ataxia 6

    Summary from GeneReviews: Go to GeneReviews

    Disease Characteristics
    Spinocerebellar ataxia type 6 (SCA6) is characterized by adult-onset, slowly progressive cerebellar ataxia, dysarthria, and nystagmus. Mean age of onset is 43 to 52 years. Initial symptoms are gait unsteadiness, stumbling, and imbalance (in ~90%) and dysarthria (in ~10%). Eventually all persons have gait ataxia, upper-limb incoordination, intention tremor, and dysarthria. Dysphagia and choking are common. Visual disturbances may result from diplopia, difficulty fixating on moving objects, horizontal gaze-evoked nystagmus, and vertical nystagmus. Hyperreflexia and extensor plantar responses occur in up to 40%-50%. Basal ganglia signs, including dystonia and blepharospasm, occur in up to 25%. Mentation is generally preserved.
    Diagnosis Testing
    CACNA1A is the only gene known to be associated with SCA6. The diagnosis of SCA6 rests on the use of molecular genetic testing to detect an abnormal CAG trinucleotide repeat expansion in CACNA1A. Affected individuals have 20 to 33 CAG repeats. Molecular genetic testing reveals an expansion in more than 99% of affected individuals.
    Genetic Counseling
    SCA6 is inherited in an autosomal dominant manner. Offspring of affected individuals have a 50% chance of inheriting the CACNA1A mutation. Prenatal testing is possible for pregnancies at increased risk if the diagnosis has been confirmed in a family member; however, requests for prenatal diagnosis of (typically) adult-onset diseases are not common.
    References
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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    O00555 Q9NZU7 CABP1    HPRD  PubMed  
    O00555 Q02641 CACNB1    HPRD  PubMed  
    O00555 O00305 CACNB4    HPRD  PubMed  
    O00555 P62873 GNB1    HPRD  PubMed  
    O00555 P35813 PPM1A    HPRD  PubMed  
    O00555 P21579 SYT1    HPRD  PubMed  
    BioGRID:107227 BioGRID:106538 ABCA2    BioGRID  PubMed Two-hybrid 
    BioGRID:107227 BioGRID:115324 ABI1    BioGRID  PubMed Affinity Capture-Western; Two-hybrid 
    BioGRID:107227 BioGRID:106602 ACTN1    BioGRID  PubMed Two-hybrid 
    BioGRID:107227 BioGRID:132000 AGRN    BioGRID  PubMed Two-hybrid 
    BioGRID:107227 BioGRID:106728 ALDOA    BioGRID  PubMed Two-hybrid 
    BioGRID:107227 BioGRID:131497 AMIGO2    BioGRID  PubMed Affinity Capture-Western; Two-hybrid 
    BioGRID:107227 BioGRID:107587 AP2M1    BioGRID  PubMed Two-hybrid 
    BioGRID:107227 BioGRID:121832 ARHGAP22    BioGRID  PubMed Affinity Capture-Western; Two-hybrid 
    BioGRID:107227 BioGRID:106931 ASNA1    BioGRID  PubMed Two-hybrid 
    BioGRID:107227 BioGRID:107076 BCL6    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:107227 BioGRID:116150 BTG3    BioGRID  PubMed Two-hybrid 
    BioGRID:107227 BioGRID:114680 BZRAP1    BioGRID  PubMed Affinity Capture-Western; Two-hybrid 
    BioGRID:107227 BioGRID:125388 C1QTNF1    BioGRID  PubMed Two-hybrid 
    BioGRID:107227 BioGRID:132001 C9orf169    BioGRID  PubMed Two-hybrid 
    BioGRID:107227 BioGRID:114863 CABP1    BioGRID  PubMed Affinity Capture-Western; Two-hybrid 
    BioGRID:107227 BioGRID:107239 CACNB4    BioGRID  PubMed Reconstituted Complex 
    BioGRID:107227 BioGRID:107256 CALM2    BioGRID  PubMed Two-hybrid 
    BioGRID:107227 BioGRID:107259 CALM3    BioGRID  PubMed Two-hybrid 
    BioGRID:107227 BioGRID:115137 CKAP5    BioGRID  PubMed Two-hybrid 
    BioGRID:107227 BioGRID:119395 CRIM1    BioGRID  PubMed Two-hybrid 
    BioGRID:107227 BioGRID:107790 CRMP1    BioGRID  PubMed Two-hybrid 
    BioGRID:107227 BioGRID:107843 CSNK2B    BioGRID  PubMed Affinity Capture-Western; Two-hybrid 
    BioGRID:107227 BioGRID:117350 DNAJB5    BioGRID  PubMed Two-hybrid 
    BioGRID:107227 BioGRID:108496 EFEMP1    BioGRID  PubMed Two-hybrid 
    BioGRID:107227 BioGRID:119026 EFEMP2    BioGRID  PubMed Two-hybrid 
    BioGRID:107227 BioGRID:116123 EHMT2    BioGRID  PubMed Two-hybrid 
    BioGRID:107227 BioGRID:114210 EIF3A    BioGRID  PubMed Two-hybrid 
    BioGRID:107227 BioGRID:108486 FBLN1    BioGRID  PubMed Two-hybrid 
    NP_002065.1 GNB1    BIND  PubMed An unspecified isoform of Cav2.1 interacts with G-beta-1. This interaction was modeled on a demonstrated interaction between Cav2.1 and G-beta-1, both from unspecified species. 
    BioGRID:107227 BioGRID:131911 GOLGA6L5    BioGRID  PubMed Two-hybrid 
    BioGRID:107227 BioGRID:109153 GRN    BioGRID  PubMed Two-hybrid 
    BioGRID:107227 BioGRID:116705 HECW1    BioGRID  PubMed Two-hybrid 
    BioGRID:107227 BioGRID:121537 HHATL    BioGRID  PubMed Two-hybrid 
    BioGRID:107227 BioGRID:109343 HIVEP1    BioGRID  PubMed Two-hybrid 
    BioGRID:107227 BioGRID:109571 HSPG2    BioGRID  PubMed Two-hybrid 
    BioGRID:107227 BioGRID:115147 IP6K1    BioGRID  PubMed Two-hybrid 
    BioGRID:107227 BioGRID:109918 JAG2    BioGRID  PubMed Two-hybrid 
    BioGRID:107227 BioGRID:114478 KALRN    BioGRID  PubMed Two-hybrid 
    BioGRID:107227 BioGRID:115984 KDM5B    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:107227 BioGRID:115899 KHDRBS3    BioGRID  PubMed Two-hybrid 
    BioGRID:107227 BioGRID:121428 KIAA1191    BioGRID  PubMed Two-hybrid 
    BioGRID:107227 BioGRID:110106 LAMB1    BioGRID  PubMed Affinity Capture-Western; Two-hybrid 
    BioGRID:107227 BioGRID:110183 LLGL1    BioGRID  PubMed Two-hybrid 
    BioGRID:107227 BioGRID:116528 LPHN1    BioGRID  PubMed Affinity Capture-Western; Two-hybrid 
    BioGRID:107227 BioGRID:110215 LRP1    BioGRID  PubMed Two-hybrid 
    BioGRID:107227 BioGRID:110230 LTBP1    BioGRID  PubMed Two-hybrid 
    BioGRID:107227 BioGRID:110232 LTBP3    BioGRID  PubMed Two-hybrid 
    BioGRID:107227 BioGRID:114009 LTBP4    BioGRID  PubMed Two-hybrid 
    BioGRID:107227 BioGRID:121981 MANBAL    BioGRID  PubMed Two-hybrid 
    BioGRID:107227 BioGRID:110315 MATK    BioGRID  PubMed Two-hybrid 
    BioGRID:107227 BioGRID:110317 MATN2    BioGRID  PubMed Two-hybrid 
    BioGRID:107227 BioGRID:108273 MEGF6    BioGRID  PubMed Two-hybrid 
    BioGRID:107227 BioGRID:108274 MEGF8    BioGRID  PubMed Two-hybrid 
    BioGRID:107227 BioGRID:131952 MIA3    BioGRID  PubMed Two-hybrid 
    BioGRID:107227 BioGRID:122069 MOAP1    BioGRID  PubMed Two-hybrid 
    BioGRID:107227 BioGRID:110794 NDUFB8    BioGRID  PubMed Two-hybrid 
    BioGRID:107227 BioGRID:110820 NELL1    BioGRID  PubMed Two-hybrid 
    BioGRID:107227 BioGRID:110828 NELL2    BioGRID  PubMed Two-hybrid 
    BioGRID:107227 BioGRID:110913 NOTCH1    BioGRID  PubMed Two-hybrid 
    BioGRID:107227 BioGRID:116025 NOXA1    BioGRID  PubMed Two-hybrid 
    BioGRID:107227 BioGRID:125511 OLIG1    BioGRID  PubMed Two-hybrid 
    BioGRID:107227 BioGRID:111152 PCSK5    BioGRID  PubMed Two-hybrid 
    BioGRID:107227 BioGRID:111083 PCSK6    BioGRID  PubMed Two-hybrid 
    BioGRID:107227 BioGRID:111385 PMM1    BioGRID  PubMed Two-hybrid 
    BioGRID:107227 BioGRID:114761 PPIG    BioGRID  PubMed Two-hybrid 
    BioGRID:107227 BioGRID:120144 PPP1R12C    BioGRID  PubMed Two-hybrid 
    BioGRID:107227 BioGRID:111702 PTGDS    BioGRID  PubMed Two-hybrid 
    BioGRID:107227 BioGRID:116502 PUF60    BioGRID  PubMed Affinity Capture-Western; Two-hybrid 
    BioGRID:107227 BioGRID:133227 RBM12B    BioGRID  PubMed Affinity Capture-Western; Two-hybrid 
    BioGRID:107227 BioGRID:117051 RIMBP2    BioGRID  PubMed Two-hybrid 
    BioGRID:107227 BioGRID:112079 RPL31    BioGRID  PubMed Two-hybrid 
    BioGRID:107227 BioGRID:112132 RPS17    BioGRID  PubMed Two-hybrid 
    BioGRID:107227 BioGRID:112246 SCP2    BioGRID  PubMed Two-hybrid 
    BioGRID:107227 BioGRID:115546 SPRY1    BioGRID  PubMed Two-hybrid 
    BioGRID:107227 BioGRID:124121 SRRM4    BioGRID  PubMed Two-hybrid 
    BioGRID:107227 BioGRID:112324 SRSF1    BioGRID  PubMed Two-hybrid 
    BioGRID:107227 BioGRID:117386 SUMF2    BioGRID  PubMed Two-hybrid 
    BioGRID:107227 BioGRID:112723 SYT1    BioGRID  PubMed Reconstituted Complex 
    BioGRID:107227 BioGRID:113807 TAF15    BioGRID  PubMed Two-hybrid 
    BioGRID:107227 BioGRID:115223 TELO2    BioGRID  PubMed Two-hybrid 
    BioGRID:107227 BioGRID:119572 TH1L    BioGRID  PubMed Two-hybrid 
    BioGRID:107227 BioGRID:114374 TSC22D1    BioGRID  PubMed Two-hybrid 
    BioGRID:107227 BioGRID:112957 TSPAN7    BioGRID  PubMed Two-hybrid 
    BioGRID:107227 BioGRID:131483 TUBB2B    BioGRID  PubMed Affinity Capture-Western; Two-hybrid 
    BioGRID:107227 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 
    BioGRID:107227 BioGRID:113231 UQCRC2    BioGRID  PubMed Two-hybrid 
    BioGRID:107227 BioGRID:113250 VARS    BioGRID  PubMed Two-hybrid 
    BioGRID:107227 BioGRID:112200 VPS52    BioGRID  PubMed Two-hybrid 
    BioGRID:107227 BioGRID:113289 VWF    BioGRID  PubMed Two-hybrid 
    BioGRID:107227 BioGRID:117103 WBP1    BioGRID  PubMed Two-hybrid 
    BioGRID:107227 BioGRID:121117 YLPM1    BioGRID  PubMed Affinity Capture-Western; Two-hybrid 
    BioGRID:107227 BioGRID:119598 ZCCHC17    BioGRID  PubMed Two-hybrid 
    BioGRID:107227 BioGRID:131691 ZNF233    BioGRID  PubMed Two-hybrid 
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    General gene information

    Markers

    Genotypes

    Homology

    Pathways from BioSystems

    • Calcium Regulation in the Cardiac Cell, organism-specific biosystem (from WikiPathways)
      Calcium Regulation in the Cardiac Cell, organism-specific biosystemCalcium is a common signaling mechanism, as once it enters the cytoplasm it exerts allosteric regulatory affects on many enzymes and proteins. Calcium can act in signal transduction after influx resu...
    • Calcium signaling pathway, organism-specific biosystem (from KEGG)
      Calcium signaling pathway, organism-specific biosystemCa2+ that enters the cell from the outside is a principal source of signal Ca2+. Entry of Ca2+ is driven by the presence of a large electrochemical gradient across the plasma membrane. Cells use this...
    • Calcium signaling pathway, conserved biosystem (from KEGG)
      Calcium signaling pathway, conserved biosystemCa2+ that enters the cell from the outside is a principal source of signal Ca2+. Entry of Ca2+ is driven by the presence of a large electrochemical gradient across the plasma membrane. Cells use this...
    • Cholinergic synapse, organism-specific biosystem (from KEGG)
      Cholinergic synapse, organism-specific biosystemAcetylcholine (ACh) is a neurotransmitter widely distributed in the central (and also peripheral, autonomic and enteric) nervous system (CNS). In the CNS, ACh facilitates many functions, such as lear...
    • Depolarization of the Presynaptic Terminal Triggers the Opening of Calcium Channels, organism-specific biosystem (from REACTOME)
      Depolarization of the Presynaptic Terminal Triggers the Opening of Calcium Channels, organism-specific biosystemThe action potential travels down the axon and reaches the pre-synaptic terminal depolarizing the membrane in the pre-synaptic terminal. The depolarization causes the voltage-gated Ca2+ channels to ...
    • Dopaminergic synapse, organism-specific biosystem (from KEGG)
      Dopaminergic synapse, organism-specific biosystemDopamine (DA) is an important and prototypical slow neurotransmitter in the mammalian brain, where it controls a variety of functions including locomotor activity, motivation and reward, learning an...
    • Dopaminergic synapse, conserved biosystem (from KEGG)
      Dopaminergic synapse, conserved biosystemDopamine (DA) is an important and prototypical slow neurotransmitter in the mammalian brain, where it controls a variety of functions including locomotor activity, motivation and reward, learning an...
    • GABAergic synapse, organism-specific biosystem (from KEGG)
      GABAergic synapse, organism-specific biosystemGamma aminobutyric acid (GABA) is the most abundant inhibitory neurotransmitter in the mammalian central nervous system (CNS). When released in the synaptic cleft, GABA binds to three major classes o...
    • GABAergic synapse, conserved biosystem (from KEGG)
      GABAergic synapse, conserved biosystemGamma aminobutyric acid (GABA) is the most abundant inhibitory neurotransmitter in the mammalian central nervous system (CNS). When released in the synaptic cleft, GABA binds to three major classes o...
    • Glutamatergic synapse, organism-specific biosystem (from KEGG)
      Glutamatergic synapse, organism-specific biosystemGlutamate is the major excitatory neurotransmitter in the mammalian central nervous system(CNS). Glutamate is packaged into synaptic vesicles in the presynaptic terminal. Once released into the synap...
    • Glutamatergic synapse, conserved biosystem (from KEGG)
      Glutamatergic synapse, conserved biosystemGlutamate is the major excitatory neurotransmitter in the mammalian central nervous system(CNS). Glutamate is packaged into synaptic vesicles in the presynaptic terminal. Once released into the synap...
    • Integration of energy metabolism, organism-specific biosystem (from REACTOME)
      Integration of energy metabolism, organism-specific biosystemMany hormones that affect individual physiological processes including the regulation of appetite, absorption, transport, and oxidation of foodstuffs influence energy metabolism pathways. While insul...
    • Long-term depression, organism-specific biosystem (from KEGG)
      Long-term depression, organism-specific biosystemCerebellar long-term depression (LTD), thought to be a molecular and cellular basis for cerebellar learning, is a process involving a decrease in the synaptic strength between parallel fiber (PF) and...
    • Long-term depression, conserved biosystem (from KEGG)
      Long-term depression, conserved biosystemCerebellar long-term depression (LTD), thought to be a molecular and cellular basis for cerebellar learning, is a process involving a decrease in the synaptic strength between parallel fiber (PF) and...
    • MAPK signaling pathway, organism-specific biosystem (from KEGG)
      MAPK signaling pathway, organism-specific biosystemThe mitogen-activated protein kinase (MAPK) cascade is a highly conserved module that is involved in various cellular functions, including cell proliferation, differentiation and migration. Mammals e...
    • MAPK signaling pathway, conserved biosystem (from KEGG)
      MAPK signaling pathway, conserved biosystemThe mitogen-activated protein kinase (MAPK) cascade is a highly conserved module that is involved in various cellular functions, including cell proliferation, differentiation and migration. Mammals e...
    • Metabolism, organism-specific biosystem (from REACTOME)
      Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
    • Morphine addiction, organism-specific biosystem (from KEGG)
      Morphine addiction, organism-specific biosystemMorphine is an alkaloid from the plant extracts of opium poppy. Although morphine is highly effective for the treatment of pain, it is also known to be intensely addictive. We now know that the most ...
    • Morphine addiction, conserved biosystem (from KEGG)
      Morphine addiction, conserved biosystemMorphine is an alkaloid from the plant extracts of opium poppy. Although morphine is highly effective for the treatment of pain, it is also known to be intensely addictive. We now know that the most ...
    • Neuronal System, organism-specific biosystem (from REACTOME)
      Neuronal System, organism-specific biosystemThe human brain contains at least 100 billion neurons, each with the ability to influence many other cells. Clearly, highly sophisticated and efficient mechanisms are needed to enable communication a...
    • Nicotine addiction, organism-specific biosystem (from KEGG)
      Nicotine addiction, organism-specific biosystemNicotine is one of the main psychoactive ingredients in tobacco that contributes to the harmful tobacco smoking habit. A common feature of addictive drugs, including nicotine, is that they increase d...
    • Nicotine addiction, conserved biosystem (from KEGG)
      Nicotine addiction, conserved biosystemNicotine is one of the main psychoactive ingredients in tobacco that contributes to the harmful tobacco smoking habit. A common feature of addictive drugs, including nicotine, is that they increase d...
    • Regulation of Insulin Secretion, organism-specific biosystem (from REACTOME)
      Regulation of Insulin Secretion, organism-specific biosystemPancreatic beta cells integrate signals from several metabolites and hormones to control the secretion of insulin. In general, glucose triggers insulin secretion while other factors can amplify or in...
    • Retrograde endocannabinoid signaling, organism-specific biosystem (from KEGG)
      Retrograde endocannabinoid signaling, organism-specific biosystemEndogenous cannabinoids (endocannabinoids) serve as retrograde messengers at synapses in various regions of the brain. The family of endocannabinoids includes at least five derivatives of arachidonic...
    • Retrograde endocannabinoid signaling, conserved biosystem (from KEGG)
      Retrograde endocannabinoid signaling, conserved biosystemEndogenous cannabinoids (endocannabinoids) serve as retrograde messengers at synapses in various regions of the brain. The family of endocannabinoids includes at least five derivatives of arachidonic...
    • Serotonergic synapse, organism-specific biosystem (from KEGG)
      Serotonergic synapse, organism-specific biosystemSerotonin (5-Hydroxytryptamine, 5-HT) is a monoamine neurotransmitter that plays important roles in physiological functions such as learning and memory, emotion, sleep, pain, motor function and endoc...
    • Synaptic vesicle cycle, organism-specific biosystem (from KEGG)
      Synaptic vesicle cycle, organism-specific biosystemCommunication between neurons is mediated by the release of neurotransmitter from synaptic vesicles (SVs). At the nerve terminal, SVs cycle through repetitive episodes of exocytosis and endocytosis. ...
    • Synaptic vesicle cycle, conserved biosystem (from KEGG)
      Synaptic vesicle cycle, conserved biosystemCommunication between neurons is mediated by the release of neurotransmitter from synaptic vesicles (SVs). At the nerve terminal, SVs cycle through repetitive episodes of exocytosis and endocytosis. ...
    • Taste transduction, organism-specific biosystem (from KEGG)
      Taste transduction, organism-specific biosystemAll taste pathways are proposed to converge on common elements that mediate a rise in intracellular Ca2+ followed by neurotransmitter release. Na+ salt depolarizes taste cells by passive influx of Na...
    • Taste transduction, conserved biosystem (from KEGG)
      Taste transduction, conserved biosystemAll taste pathways are proposed to converge on common elements that mediate a rise in intracellular Ca2+ followed by neurotransmitter release. Na+ salt depolarizes taste cells by passive influx of Na...
    • Transmission across Chemical Synapses, organism-specific biosystem (from REACTOME)
      Transmission across Chemical Synapses, organism-specific biosystemChemical synapses are specialized junctions that are used for communication between neurons, neurons and muscle or gland cells. The synapse involves a pre-synaptic neuron and a post-synaptic neuron,...
    • Type II diabetes mellitus, organism-specific biosystem (from KEGG)
      Type II diabetes mellitus, organism-specific biosystemInsulin resistance is strongly associated with type II diabetes. "Diabetogenic" factors including FFA, TNFalpha and cellular stress induce insulin resistance through inhibition of IRS1 functions. Ser...
    • Type II diabetes mellitus, conserved biosystem (from KEGG)
      Type II diabetes mellitus, conserved biosystemInsulin resistance is strongly associated with type II diabetes. "Diabetogenic" factors including FFA, TNFalpha and cellular stress induce insulin resistance through inhibition of IRS1 functions. Ser...

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    calmodulin binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    high voltage-gated calcium channel activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    syntaxin binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    voltage-gated calcium channel activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    voltage-gated calcium channel activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    voltage-gated ion channel activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    adult walking behavior IEA
    Inferred from Electronic Annotation
    more info
    		  
    behavioral response to pain IEA
    Inferred from Electronic Annotation
    more info
    		  
    calcium ion-dependent exocytosis of neurotransmitter IEA
    Inferred from Electronic Annotation
    more info
    		  
    cell death IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    cell growth IEA
    Inferred from Electronic Annotation
    more info
    		  
    cellular chloride ion homeostasis IEA
    Inferred from Electronic Annotation
    more info
    		  
    cerebellar Purkinje cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    cerebellar Purkinje cell layer development IEA
    Inferred from Electronic Annotation
    more info
    		  
    cerebellar molecular layer development IEA
    Inferred from Electronic Annotation
    more info
    		  
    cerebellum maturation IEA
    Inferred from Electronic Annotation
    more info
    		  
    dendrite morphogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    elevation of cytosolic calcium ion concentration ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    energy reserve metabolic process TAS
    Traceable Author Statement
    more info
    		  
    gamma-aminobutyric acid secretion IEA
    Inferred from Electronic Annotation
    more info
    		  
    gamma-aminobutyric acid signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    glucose metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    ion transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    membrane depolarization TAS
    Traceable Author Statement
    more info
    		  
    musculoskeletal movement, spinal reflex action IEA
    Inferred from Electronic Annotation
    more info
    		  
    negative regulation of hormone biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    negative regulation of neuron apoptosis IEA
    Inferred from Electronic Annotation
    more info
    		  
    neuromuscular process controlling balance IEA
    Inferred from Electronic Annotation
    more info
    		  
    neuromuscular synaptic transmission IEA
    Inferred from Electronic Annotation
    more info
    		  
    neurotransmitter metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    receptor clustering IEA
    Inferred from Electronic Annotation
    more info
    		  
    regulation of acetylcholine secretion IEA
    Inferred from Electronic Annotation
    more info
    		  
    regulation of axonogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    regulation of calcium ion transport via voltage-gated calcium channel activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    regulation of calcium ion transport via voltage-gated calcium channel activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    regulation of calcium ion-dependent exocytosis IEA
    Inferred from Electronic Annotation
    more info
    		  
    regulation of insulin secretion TAS
    Traceable Author Statement
    more info
    		  
    rhythmic synaptic transmission IEA
    Inferred from Electronic Annotation
    more info
    		  
    small molecule metabolic process TAS
    Traceable Author Statement
    more info
    		  
    spinal cord motor neuron differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    sulfur amino acid metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    synapse assembly IEA
    Inferred from Electronic Annotation
    more info
    		  
    synaptic transmission TAS
    Traceable Author Statement
    more info
    		  
    synaptic transmission, glutamatergic IEA
    Inferred from Electronic Annotation
    more info
    		  
    thyroid hormone metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    vestibular nucleus development IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    cell projection IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    dendrite IEA
    Inferred from Electronic Annotation
    more info
    		  
    integral to membrane TAS
    Traceable Author Statement
    more info
    		 PubMed 
    nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    perikaryon IEA
    Inferred from Electronic Annotation
    more info
    		  
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
    		  
    voltage-gated calcium channel complex IEA
    Inferred from Electronic Annotation
    more info
    		  
    Help top of page

    General protein information

    Preferred Names
    voltage-dependent P/Q-type calcium channel subunit alpha-1A
    Names
    voltage-dependent P/Q-type calcium channel subunit alpha-1A
    brain calcium channel 1
    brain calcium channel I
    calcium channel, L type, alpha-1 polypeptide
    voltage-gated calcium channel subunit alpha Cav2.1
    Help top of page

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_011569.1 RefSeqGene

      Range
      5001..305019
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_7

    mRNA and Protein(s)

    1. NM_000068.3 → NP_000059.3  voltage-dependent P/Q-type calcium channel subunit alpha-1A isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) uses an alternate splice site in the 3' coding region that results in a frameshift, compared to variant 2. The resulting isoform (1) has a shorter and distinct C-terminus that does not include the polyglutamine tract, compared to isoform 2.
      Source sequence(s)
      AB035726, AC011446, AF004883, BQ340521
      Conserved Domains (4) summary
      PRK12678
      Location:771 – 983
      Blast Score: 93
      PRK12678; transcription termination factor Rho; Provisional
      cl07394
      Location:1954 – 1985
      Blast Score: 149
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam00520
      Location:1603 – 1815
      Blast Score: 434
      Ion_trans; Ion transport protein
      pfam08016
      Location:1607 – 1820
      Blast Score: 133
      PKD_channel; Polycystin cation channel

    2. NM_001127221.1 → NP_001120693.1  voltage-dependent P/Q-type calcium channel subunit alpha-1A isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses two alternate splice sites, lacks two alternate exons, and includes an additional exon, compared to variant 2. The resulting isoform (3) differs at 3 internal regions and has a shorter and distinct C-terminus that does not include the polyglutamine tract, compared to isoform 2.
      Source sequence(s)
      AC011446, AC124224, AF004883, X99897
      Consensus CDS
      CCDS45999.1
      UniProtKB/Swiss-Prot
      O00555
      Related
      ENSP00000317661, ENST00000325084
      Conserved Domains (4) summary
      PRK12678
      Location:768 – 980
      Blast Score: 93
      PRK12678; transcription termination factor Rho; Provisional
      cl07394
      Location:1949 – 1980
      Blast Score: 149
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam00520
      Location:1600 – 1810
      Blast Score: 441
      Ion_trans; Ion transport protein
      pfam08016
      Location:1604 – 1815
      Blast Score: 127
      PKD_channel; Polycystin cation channel

    3. NM_001127222.1 → NP_001120694.1  voltage-dependent P/Q-type calcium channel subunit alpha-1A isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses two alternate in-frame splice sites and lacks an alternate in-frame exon, compared to variant 2. The resulting isoform (4) differs at three internal regions, compared to isoform 2, and includes the polyglutamine tract near the C-terminus.
      Source sequence(s)
      AB035727, AC011446, AC022436, AC026805, AC124224, AF004883
      Consensus CDS
      CCDS45998.1
      UniProtKB/Swiss-Prot
      O00555
      UniProtKB/TrEMBL
      Q9NS88
      Related
      ENSP00000353362, ENST00000360228
      Conserved Domains (4) summary
      PHA03307
      Location:2329 – 2505
      Blast Score: 109
      PHA03307; transcriptional regulator ICP4; Provisional
      cl07394
      Location:1948 – 1979
      Blast Score: 151
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam00520
      Location:1599 – 1809
      Blast Score: 459
      Ion_trans; Ion transport protein
      pfam08016
      Location:1603 – 1814
      Blast Score: 130
      PKD_channel; Polycystin cation channel

    4. NM_001174080.1 → NP_001167551.1  voltage-dependent P/Q-type calcium channel subunit alpha-1A isoform 5

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) uses two alternate splice sites, compared to variant 2. The resulting isoform (5) lacks an internal 3-aa segment and has a shorter and distinct C-terminus that does not include the polyglutamine tract, compared to isoform 2.
      Source sequence(s)
      AC011446, AF004883, FJ040507
      UniProtKB/TrEMBL
      B5TYJ1
      UniProtKB/Swiss-Prot
      O00555
      Conserved Domains (4) summary
      PRK12678
      Location:768 – 980
      Blast Score: 93
      PRK12678; transcription termination factor Rho; Provisional
      cl07394
      Location:1951 – 1982
      Blast Score: 149
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam00520
      Location:1600 – 1812
      Blast Score: 433
      Ion_trans; Ion transport protein
      pfam08016
      Location:1604 – 1817
      Blast Score: 132
      PKD_channel; Polycystin cation channel

    5. NM_023035.2 → NP_075461.2  voltage-dependent P/Q-type calcium channel subunit alpha-1A isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) represents the longest transcript and encodes the longest isoform (2). This variant includes a (CAG)n-repeat in the coding region, resulting in a polyglutamine tract near the C-terminus.
      Source sequence(s)
      AB035726, AC011446, AF004884, BQ340521
      Related
      ENSP00000414093, ENST00000418012
      Conserved Domains (4) summary
      PHA03307
      Location:2335 – 2511
      Blast Score: 109
      PHA03307; transcriptional regulator ICP4; Provisional
      cl07394
      Location:1954 – 1985
      Blast Score: 151
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam00520
      Location:1603 – 1815
      Blast Score: 452
      Ion_trans; Ion transport protein
      pfam08016
      Location:1607 – 1820
      Blast Score: 137
      PKD_channel; Polycystin cation channel

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000019.9 Reference GRCh37.p5 Primary Assembly

      Range
      13317256..13617274, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000151.1 Alternate HuRef

      Range
      12889634..13189171, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Help top of page

    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC005305.1 AAC26839.1
    genomic AC005513.1 (1517..37000) None
    genomic AC008540.6 (500..93459) None
    genomic AC011446.6 (77398..115931) None
    genomic AC022436.6 (17478..43279) None
    genomic AC026805.5 (1578..40638) None
    genomic AC093062.2 (1382..7087) None
    genomic AC098781.2 (1851..3670) None
    genomic AC124224.1 (22548..44723) None
    genomic AF144098.1 AAF03935.1
    genomic AF152345.1 AAD38386.1
    genomic CH471106.1 EAW84361.1
      EAW84362.1
      EAW84363.1
      EAW84364.1
      EAW84365.1
      EAW84366.1
    mRNA AB035726.1 BAA94765.1
    mRNA AB035727.2 BAA94766.2
    mRNA AF004883.1 AAB61612.1
    mRNA AF004884.1 AAB61613.1
    mRNA AF100774.1 AAC77460.1
    mRNA BQ340521.1 None
    mRNA FJ040507.1 ACH89974.1
    mRNA S76537.1 AAB33068.1
    mRNA U06702.1 None
    mRNA U79663.1 AAB49674.1
    mRNA U79664.1 AAB49675.1
    mRNA U79665.1 AAB49676.1
    mRNA U79666.1 AAB64179.1
    mRNA U79667.1 AAB49677.1
    mRNA U79668.1 AAB49678.1
    mRNA X99897.1 CAA68172.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    O00555.2 GenPept UniProtKB/Swiss-Prot:O00555
    O95387 GenPept UniProtKB/TrEMBL:O95387
    Q9NS88 GenPept UniProtKB/TrEMBL:Q9NS88
    Q9NS89 GenPept UniProtKB/TrEMBL:Q9NS89
    Q9UHM9 GenPept UniProtKB/TrEMBL:Q9UHM9
    Q9UN69 GenPept UniProtKB/TrEMBL:Q9UN69
    Help top of page

    Additional Links

    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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