Voltage-dependent L-type calcium channel subunit alpha-1F

UniProt O60840 Organism Homo sapiens Gene CACNA1F, CACNAF1

Also known as: CACNA1F, CACNAF1

Function

Voltage-sensitive calcium channels (VSCC) 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, gene expression, cell motility, cell division and cell death. The isoform alpha-1F gives rise to L-type calcium currents. Long-lasting (L-type) calcium channels belong to the 'high-voltage activated' (HVA) group. They are blocked by dihydropyridines (DHP), phenylalkylamines, and by benzothiazepines. Activates at more negative voltages and does not undergo calcium-dependent inactivation (CDI), due to incoming calcium ions, during depolarization.

Classification

Family (Pfam): PF08763 Ca_chan_IQ, PF16885 CAC1F_C, PF16905 GPHH, PF00520 Ion_trans
InterPro: CAC1F_C, GPHH_dom, Ion_trans_dom, VDCC_a1su_IQ, VDCC_alpha-1_subunit, VDCC_L_a1su, VDCCAlpha1, Volt_channel_dom_sf
Functional cluster: G Protein-Coupled Receptors

Gene Ontology · 11

Disease associations

congenital stationary night blindness 2A MONDO:0010241
X-linked cone-rod dystrophy 3 MONDO:0010335
Aland island eye disease MONDO:0010371

Drugs targeting this protein · 36

Related proteins · sequence + function similarity

Co-cited proteins · studied together in the literature

Voltage-dependent L-type calcium channel subunit alpha-1F 1 shared papers
Calcium-binding protein 4 1 shared papers
Proteolipid protein 2 1 shared papers
Prickle planar cell polarity protein 3 1 shared papers
Synaptophysin 1 shared papers

Literature · 15 cited papers

Characterization of C-terminal Splice Variants of Cav1.4 Ca2+ Channels in Human Retina. J. Biol. Chem. · 2016
A novel p.Gly603Arg mutation in CACNA1F causes Aland island eye disease and incomplete congenital stationary night blindness phenotypes in a family. Mol. Vis. · 2011
Expression and 1,4-dihydropyridine-binding properties of brain L-type calcium channel isoforms. Mol. Pharmacol. · 2009
A novel CACNA1F gene mutation causes Aland Island eye disease. Invest. Ophthalmol. Vis. Sci. · 2007
Mutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindness. Am. J. Hum. Genet. · 2006
X linked cone-rod dystrophy, CORDX3, is caused by a mutation in the CACNA1F gene. J. Med. Genet. · 2006
A CACNA1F mutation identified in an X-linked retinal disorder shifts the voltage dependence of Cav1.4 channel activation. Proc. Natl. Acad. Sci. U.S.A. · 2005
The DNA sequence of the human X chromosome. Nature · 2005
Infantile and childhood retinal blindness: a molecular perspective (The Franceschetti Lecture). Ophthalmic Genet. · 2002
Thirty distinct CACNA1F mutations in 33 families with incomplete type of XLCSNB and Cacna1f expression profiling in mouse retina. Eur. J. Hum. Genet. · 2002
A summary of 20 CACNA1F mutations identified in 36 families with incomplete X-linked congenital stationary night blindness, and characterization of splice variants. Hum. Genet. · 2001
Isolation and characterization of a calcium channel gene, cacna1f, the murine orthologue of the gene for incomplete X-linked congenital stationary night blindness. Genomics · 2000
… and 3 more in the literature graph

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