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CACNA1A calcium voltage-gated channel subunit alpha1 A [ Homo sapiens (human) ]

Gene ID: 773, updated on 29-Mar-2020

Summary

Official Symbol
CACNA1Aprovided by HGNC
Official Full Name
calcium voltage-gated channel subunit alpha1 Aprovided by HGNC
Primary source
HGNC:HGNC:1388
See related
Ensembl:ENSG00000141837 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; EIEE42; 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 4-18 to 21-33 in the coding region is associated with spinocerebellar ataxia 6. [provided by RefSeq, Jul 2016]
Expression
Biased expression in brain (RPKM 5.1), stomach (RPKM 1.8) and 6 other tissues See more
Orthologs

Genomic context

See CACNA1A in Genome Data Viewer
Location:
19p13.13
Exon count:
49
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (13206442..13506479, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (13317256..13617274, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 13602 Neighboring gene uncharacterized LOC107985288 Neighboring gene calcium voltage-gated channel subunit alpha1 A repeat instability region Neighboring gene NFE2L2 motif-containing MPRA enhancer 68 Neighboring gene uncharacterized LOC105372283 Neighboring gene Sharpr-MPRA regulatory region 1233 Neighboring gene uncharacterized LOC107985287 Neighboring gene uncharacterized LOC105372284

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
amyloid-beta binding IC
Inferred by Curator
more info
PubMed 
high voltage-gated calcium channel activity IDA
Inferred from Direct Assay
more info
PubMed 
high voltage-gated calcium channel activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
metal ion binding 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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
voltage-gated calcium channel activity IDA
Inferred from Direct Assay
more info
PubMed 
voltage-gated calcium channel activity IGI
Inferred from Genetic Interaction
more info
PubMed 
Process Evidence Code Pubs
calcium ion import IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
calcium ion transmembrane transport IDA
Inferred from Direct Assay
more info
PubMed 
calcium ion transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cell death IDA
Inferred from Direct Assay
more info
PubMed 
cellular response to amyloid-beta IDA
Inferred from Direct Assay
more info
PubMed 
cellular response to amyloid-beta IGI
Inferred from Genetic Interaction
more info
PubMed 
chemical synaptic transmission IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
membrane depolarization TAS
Traceable Author Statement
more info
 
modulation of chemical synaptic transmission IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of cytosolic calcium ion concentration IDA
Inferred from Direct Assay
more info
PubMed 
regulation of insulin secretion TAS
Traceable Author Statement
more info
 
regulation of ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
response to amyloid-beta IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
cell IEA
Inferred from Electronic Annotation
more info
 
cell projection IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
integral component of membrane NAS
Non-traceable Author Statement
more info
PubMed 
integral component of membrane TAS
Traceable Author Statement
more info
PubMed 
neuronal cell body ISS
Inferred from Sequence or Structural Similarity
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
synapse IEA
Inferred from Electronic Annotation
more info
 
voltage-gated calcium channel complex IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
voltage-dependent P/Q-type calcium channel subunit alpha-1A
Names
brain calcium channel 1
brain calcium channel I
calcium channel, L type, alpha-1 polypeptide
calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
fetal brain Ca2+ voltage-gated channel alpha1A pore-forming subunit
voltage-gated calcium channel subunit alpha Cav2.1

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_000068.4NP_000059.3  voltage-dependent P/Q-type calcium channel subunit alpha-1A isoform 1

    See identical proteins and their annotated locations for NP_000059.3

    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, AC008540, AC011446, AF004883, BQ340521
    Consensus CDS
    CCDS82301.1
    UniProtKB/Swiss-Prot
    O00555
    UniProtKB/TrEMBL
    A0A1B0GVQ9, Q9NS89
    Related
    ENSP00000490617.1, ENST00000637432.1
    Conserved Domains (3) summary
    pfam00520
    Location:15861827
    Ion_trans; Ion transport protein
    pfam08763
    Location:19001974
    Ca_chan_IQ; Voltage gated calcium channel IQ domain
    pfam16905
    Location:18351898
    GPHH; Voltage-dependent L-type calcium channel, IQ-associated
  2. NM_001127221.1NP_001120693.1  voltage-dependent P/Q-type calcium channel subunit alpha-1A isoform 3

    See identical proteins and their annotated locations for NP_001120693.1

    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
    ENSP00000489913.1, ENST00000638009.2
    Conserved Domains (3) summary
    pfam00520
    Location:15831822
    Ion_trans; Ion transport protein
    pfam08763
    Location:18951969
    Ca_chan_IQ; Voltage gated calcium channel IQ domain
    pfam16905
    Location:18301893
    GPHH; Voltage-dependent L-type calcium channel, IQ-associated
  3. NM_001127222.2NP_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, AC008540, AC011446, AC022436, AC026805, AC124224, AF004883
    Consensus CDS
    CCDS45998.1
    UniProtKB/Swiss-Prot
    O00555
    Related
    ENSP00000353362.5, ENST00000360228.11
    Conserved Domains (4) summary
    pfam00520
    Location:15641821
    Ion_trans; Ion transport protein
    pfam08763
    Location:18941968
    Ca_chan_IQ; Voltage gated calcium channel IQ domain
    pfam16905
    Location:18221892
    GPHH; Voltage-dependent L-type calcium channel, IQ-associated
    cl28033
    Location:22332503
    Herpes_ICP4_C; Herpesvirus ICP4-like protein C-terminal region
  4. NM_001174080.2NP_001167551.1  voltage-dependent P/Q-type calcium channel subunit alpha-1A isoform 5

    See identical proteins and their annotated locations for NP_001167551.1

    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)
    AC008540, AC011446, AF004883, FJ040507
    Consensus CDS
    CCDS82302.1
    UniProtKB/Swiss-Prot
    O00555
    UniProtKB/TrEMBL
    B5TYJ1
    Related
    ENSP00000490578.1, ENST00000636549.1
    Conserved Domains (3) summary
    pfam00520
    Location:15831824
    Ion_trans; Ion transport protein
    pfam08763
    Location:18971971
    Ca_chan_IQ; Voltage gated calcium channel IQ domain
    pfam16905
    Location:18321895
    GPHH; Voltage-dependent L-type calcium channel, IQ-associated
  5. NM_023035.3NP_075461.2  voltage-dependent P/Q-type calcium channel subunit alpha-1A isoform 2

    See identical proteins and their annotated locations for NP_075461.2

    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, AC008540, AC011446, AF004884, BQ340521
    Consensus CDS
    CCDS82300.1
    UniProtKB/Swiss-Prot
    O00555
    UniProtKB/TrEMBL
    A0A087WW63, Q9NS89
    Related
    ENSP00000489829.1, ENST00000638029.1
    Conserved Domains (4) summary
    pfam00520
    Location:15861827
    Ion_trans; Ion transport protein
    pfam05550
    Location:23522424
    Peptidase_C53; Pestivirus Npro endopeptidase C53
    pfam08763
    Location:19001974
    Ca_chan_IQ; Voltage gated calcium channel IQ domain
    pfam16905
    Location:18351898
    GPHH; Voltage-dependent L-type calcium channel, IQ-associated

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    13206442..13506479 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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