CACNA1A

GENE INFORMATION

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Gene name

CACNA1A (HGNC Symbol)

Synonyms

APCA, CACNL1A4, Cav2.1, EA2, FHM, HPCA, MHP, MHP1, SCA6

Description

calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (HGNC Symbol)

Entrez gene 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]

Chromosome

19 (Chromosome progress)

Cytoband

p13.2

Chromosome location (bp)

13317256 - 13734804

Ensembl

ENSG00000141837 (version 73.37)

Entrez gene

773

UniProt

O00555 (UniProt - Evidence at protein level)

neXtProt

NX_O00555

Antibodypedia

CACNA1A antibodies
 

PROTEIN VIEW

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CACNA1A-001
 
CACNA1A-002
 
CACNA1A-004
 
CACNA1A-006
 
CACNA1A-007
 
CACNA1A-008
 
CACNA1A-012
 
CACNA1A-013
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

CACNA1A-001 ENSP00000353362
ENST00000360228
O00555
Show all »
Show » Show » 2506 282.6 No >9
CACNA1A-002 ENSP00000460092
ENST00000573710
Q9UN69
Show all »
Show » Show » 2261 256.8 No >9
CACNA1A-004 ENSP00000460276
ENST00000573891
Show » Show » 79 8.8 No 2
CACNA1A-006 ENSP00000459963
ENST00000574974
I3L2V5
Show all »
Show » Show » 103 11.2 No 2
CACNA1A-007 ENSP00000464729
ENST00000592864
K7EIF8
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35 4 No 0
CACNA1A-008 ENSP00000468712
ENST00000587451
8 1 No 0
CACNA1A-012 ENSP00000465598
ENST00000585802
K7EKF7
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Show » Show » 1180 133.7 No 8
CACNA1A-013 ENSP00000467729
ENST00000587525
K7EQ95
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Show » Show » 981 110.4 No 6