GenAge entry for CACNA1A (Homo sapiens)

Gene name (HAGRID: 133)

HGNC symbol: CACNA1A
Aliases: Cav2.1; EA2; APCA; HPCA; FHM; CACNL1A4; SCA6; MHP1; MHP
Common name: calcium channel, voltage-dependent, P/Q type, alpha 1A subunit

Potential relevance to the human ageing process

Main reason for selection: Entry selected based on indirect or inconclusive evidence linking the gene product to ageing in humans or in one or more model systems
Description: CACNA1A mediates calcium ions in a variety of processes such as cell division and gene expression [682]. Some results from mice show a relation between CACNA1A and age-related degeneration in the CNS [680]. Mutations in the human CACNA1A gene have been associated with hemiplegic migraine and episodic ataxia type-2 [1695]. Although CACNA1A could be related to human age-related changes in the CNS, its role in human ageing is unknown.

Cytogenetic information

Cytogenetic band: 19p13
Location: 13,206,442 bp to 13,506,460 bp
Orientation: Minus strand

Display region using the UCSC Genome Browser (GRCh38/hg38)

Protein information

Gene Ontology

Process:

GO:0000096; sulfur amino acid metabolic process
GO:0006006; glucose metabolic process
GO:0007204; positive regulation of cytosolic calcium ion concentration
GO:0007214; gamma-aminobutyric acid signaling pathway
GO:0007274; neuromuscular synaptic transmission
GO:0007416; synapse assembly
GO:0007628; adult walking behavior
GO:0008219; cell death
GO:0014051; gamma-aminobutyric acid secretion
GO:0014056; regulation of acetylcholine secretion, neurotransmission
GO:0016049; cell growth

And 27 more GO terms

Cellular component:

GO:0005634; nucleus
GO:0005737; cytoplasm
GO:0005886; plasma membrane
GO:0005891; voltage-gated calcium channel complex
GO:0016021; integral component of membrane
GO:0030425; dendrite
GO:0042995; cell projection
GO:0043025; neuronal cell body
GO:0098793; presynapse

Function:

GO:0005245; voltage-gated calcium channel activity
GO:0005262; calcium channel activity
GO:0005515; protein binding
GO:0008331; high voltage-gated calcium channel activity
GO:0019905; syntaxin binding
GO:0046872; metal ion binding

Show all GO terms

Protein interactions and network

Protein-protein interacting partners in GenAge: EFEMP1, GRN
STRING interaction network

Retrieve sequences for CACNA1A

ORF: ORF
CDS: CDS

Homologs in model organisms

Danio rerio: cacna1ab
Mus musculus: Cacna1a
Rattus norvegicus: Cacna1a