Endogenous

CACNA1F;CACNAF1

Voltage-dependent L-type calcium channel subunit alpha-1F;Voltage-gated calcium channel subunit alpha Cav1.4;

CACNA1F ;
CACNAF1 ;
Voltage-dependent L-type calcium channel subunit alpha-1F ;
Voltage-gated calcium channel subunit alpha Cav1.4 ;

calcium voltage-gated channel subunit alpha1 F(CACNA1F) Homo sapiens 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],

[Isoform 1]: 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. {ECO:0000269|PubMed:15897456, ECO:0000269|PubMed:27226626}.; [Isoform 4]: Voltage-dependent L-type calcium channel activates at more hyperpolarized voltages and exhibits a robust calcium-dependent inactivation (CDI), due to incoming calcium ions, during depolarizations. {ECO:0000269|PubMed:27226626}.; [Isoform 5]: 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. {ECO:0000269|PubMed:27226626}.; [Isoform 6]: Voltage-dependent L-type calcium channel activates at more hyperpolarized voltages and exhibits a robust calcium-dependent inactivation (CDI), due to incoming calcium ions, during depolarizations. {ECO:0000269|PubMed:27226626}.

Membrane; Multi-pass membrane protein.

Expression in skeletal muscle and retina (PubMed:10873387). Isoform 4 is expressed in retina (PubMed:27226626). {ECO:0000269|PubMed:10873387, ECO:0000269|PubMed:27226626}.

>>MAPK signaling pathway ;
>>Calcium signaling pathway ;
>>cGMP-PKG signaling pathway ;
>>cAMP signaling pathway ;
>>Cardiac muscle contraction ;
>>Adrenergic signaling in cardiomyocytes ;
>>Vascular smooth muscle contraction ;
>>Retrograde endocannabinoid signaling ;
>>Cholinergic synapse ;
>>Serotonergic synapse ;
>>GABAergic synapse ;
>>Insulin secretion ;
>>GnRH signaling pathway ;
>>Oxytocin signaling pathway ;
>>Renin secretion ;
>>Aldosterone synthesis and secretion ;
>>Cortisol synthesis and secretion ;
>>GnRH secretion ;
>>Cushing syndrome ;
>>Growth hormone synthesis, secretion and action ;
>>Alzheimer disease ;
>>Prion disease ;
>>Pathways of neurodegeneration - multiple diseases ;
>>Chemical carcinogenesis - receptor activation ;
>>Hypertrophic cardiomyopathy ;
>>Arrhythmogenic right ventricular cardiomyopathy ;
>>Dilated cardiomyopathy