Cav1.4

Ca_v1.4 also known as the calcium channel, voltage-dependent, L type, alpha 1F subunit (CACNA1F), is a human gene.^[5]

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	OMIM: 300110; MGI: 1859639; HomoloGene: 74542; GeneCards: CACNA1F; OMA:CACNA1F - orthologs
Gene location (Human) Chr. X chromosome (human)[1] Band Xp11.23 Start 49,205,063 bp[1] End 49,233,371 bp[1]
Gene location (Mouse) Chr. X chromosome (mouse)[2] Band X A1.1|X 3.42 cM Start 7,473,322 bp[2] End 7,501,435 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in granulocyte right hemisphere of cerebellum right uterine tube right lung prefrontal cortex mucosa of transverse colon Brodmann area 9 right frontal lobe lymph node olfactory zone of nasal mucosa Top expressed in neural layer of retina embryo epithelium of lens retinal pigment epithelium skin of abdomen primary visual cortex pineal gland zygote olfactory bulb trachea More reference expression data BioGPS More reference expression data
Gene ontology Molecular function calcium channel activity metal ion binding voltage-gated ion channel activity ion channel activity voltage-gated calcium channel activity protein binding high voltage-gated calcium channel activity Cellular component membrane plasma membrane soma 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 calcium ion transmembrane transport transmembrane transport calcium ion transport visual perception negative regulation of voltage-gated calcium channel activity calcium ion import cardiac conduction Sources:Amigo / QuickGO
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: 7.47 – 7.5 Mb PubMed search [3] [4]
Wikidata
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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).^[5]

See also

• Calcium channel