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
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
Protein interactions and network
Retrieve sequences for CACNA1A
Homologs in model organisms
- Caenorhabditis elegans
- unc-2
- Danio rerio
- nalcn
- Drosophila melanogaster
- cac
- Mus musculus
- Cacna1a
- Rattus norvegicus
- Cacna1a
- Saccharomyces cerevisiae
- CCH1
Selected references
External links
- EPD
- ORF Accession
- NM_000068
- CDS Accession
- NP_000059
- OMIM
- 601011
- HPRD
- 03004
- Ensembl
- CACNA1A
- UniProt/Swiss-Prot
- CAC1A_HUMAN
- GeneCards
- CACNA1A
- Entrez Gene
- 773
- GenAtlas
- CACNA1A
- Internet
- Search Google