CACNA1F

GENE INFORMATION

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Gene name

CACNA1F (HGNC Symbol)

Synonyms

AIED, Cav1.4, CORDX3, CSNB2, CSNB2A, CSNBX2, JM8, JMC8, OA2

Description

calcium channel, voltage-dependent, L type, alpha 1F subunit (HGNC Symbol)

Entrez gene summary

This gene encodes a multipass transmembrane protein that functions as an alpha-1 subunit of the voltage-dependent calcium channel, which mediates the influx of calcium ions into the cell. The encoded protein forms a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Mutations in this gene can cause X-linked eye disorders, including congenital stationary night blindness type 2A, cone-rod dystropy, and Aland Island eye disease. Alternatively spliced transcript variants encoding multiple isoforms have been observed. [provided by RefSeq, Aug 2013]

Chromosome

X (Chromosome progress)

Cytoband

p11.23

Chromosome location (bp)

49061523 - 49089833

Ensembl

ENSG00000102001 (version 73.37)

Entrez gene

778

UniProt

O60840 (UniProt - Evidence at protein level)

neXtProt

NX_O60840

Antibodypedia

CACNA1F antibodies
 

PROTEIN VIEW

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CACNA1F-001
 
CACNA1F-002
 
CACNA1F-005
 
CACNA1F-007
 
 
 
 
 

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)

CACNA1F-001 ENSP00000321618
ENST00000323022
O60840
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Show » Show » 1966 219.5 No >9
CACNA1F-002 ENSP00000365427
ENST00000376251
O60840
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Show » Show » 1912 214 No >9
CACNA1F-005 ENSP00000418961
ENST00000486943
H7C549
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116 13.2 No 0
CACNA1F-007 ENSP00000365441
ENST00000376265
O60840
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Show » Show » 1977 220.7 No >9