CACNA1F

CACNA1F
Identifiers
Aliases	CACNA1F, AIED, COD3, COD4, CORDX, CORDX3, CSNB2, CSNB2A, CSNBX2, Cav1.4, Cav1.4alpha1, JM8, JMC8, OA2, calcium voltage-gated channel subunit alpha1 F
External IDs	MGI: 1859639 HomoloGene: 74542 GeneCards: CACNA1F
Targeted by Drug
BAYK 8644, isradipine, nifedipine
Gene ontology Molecular function • calcium channel activity • metal ion binding • voltage-gated ion channel activity • ion channel activity • voltage-gated calcium channel activity • high voltage-gated calcium channel activity Cellular component • membrane • plasma membrane • neuronal cell body • integral component of membrane • perikaryon • photoreceptor outer segment • voltage-gated calcium channel complex Biological process • membrane depolarization during action potential • response to stimulus • regulation of T cell receptor signaling pathway • regulation of ion transmembrane transport • ion transport • detection of light stimulus involved in visual perception • T cell homeostasis • cardiac conduction • calcium ion transmembrane transport • transmembrane transport • transport • calcium ion transport • visual perception Sources:Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	778	54652
Ensembl	ENSG00000102001	ENSMUSG00000031142
UniProt	O60840	Q9JIS7
RefSeq (mRNA)	NM_001256789 NM_001256790 NM_005183	NM_019582
RefSeq (protein)	NP_001243718 NP_001243719 NP_005174	n/a
Location (UCSC)	Chr X: 49.21 – 49.23 Mb	Chr X: 7.61 – 7.64 Mb
PubMed search

778

54652

ENSG00000102001

ENSMUSG00000031142

O60840

Q9JIS7

NM_001256789
NM_001256790
NM_005183

NM_019582

NP_001243718
NP_001243719
NP_005174

n/a

Ca_v1.4 also known as the calcium channel, voltage-dependent, L type, alpha 1F subunit (CACNA1F), is a human gene.

This gene encodes a member of the alpha-1 subunit family; a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. The alpha-1 subunit has 24 transmembrane segments and forms the pore through which ions pass into the cell. There are multiple isoforms of each of the proteins in the complex, either encoded by different genes or the result of alternative splicing of transcripts. Alternate transcriptional splice variants of the gene described here have been observed but have not been thoroughly characterized. Mutations in this gene have been shown to cause incomplete X-linked congenital stationary night blindness type 2 (CSNB2).

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Wikipedia