Fields »

GENE AND PROTEIN SUMMARY

? »

Gene name

CACNA1A

Description

calcium channel, voltage-dependent, P/Q type, alpha 1A subunit

Protein class

Mapped to UniProt SWISS-PROT, Potential transmembrane proteins, Potentially secreted proteins, Voltage-gated ion channels

Protein evidence

Medium

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]

External links

Ensembl, UniProt, Entrez gene, neXtProt, Antibodypedia

No of splice variants

9 in total
7 with predicted TM region
0 with predicted signal peptide

SUBCELLULAR LOCATION SUMMARY

? »

Pending subcellular analysis

NORMAL TISSUE & ORGAN SUMMARY

? »

Pending normal tissue analysis

CANCER TISSUE SUMMARY

? »

Pending cancer tissue analysis

CELL LINE SUMMARY

? »

RNA evidence

Low
 

Cell line

Cell origin

RNA abundance

IH staining

IF intensity

A-431 Skin Not detected

-

-

A-549 Lung Low

-

-

CACO-2 Colon Not detected

-

-

HEK 293 Embryonal kidney Not detected

-

-

HeLa Cervix Low

-

-

Hep-G2 Liver Not detected

-

-

MCF-7 Pleural effusion Not detected

-

-

PC-3 Bone marrow Low

-

-

RT-4 Urinary bladder Low

-

-

U-2 OS Bone Low

-

-

U-251 MG Brain Low

-

-

ANTIBODY SUMMARY

? »

Pending antibodies