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
Protein-Protein network diagram for CACNA1A

Retrieve sequences for CACNA1A

ORF
ORF
CDS
CDS

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
UniGene
501632
GenAtlas
CACNA1A
Internet
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