CACNA1F
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].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:300110 Ensembl IDEnsembl:ENSG00000102001 HGNC IDHGNC:HGNC:1393 PHARMGKB IDPA26010 Map LocationXp11.23 | |||||
GO terms in CACNA1F
Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IBA | GO:0005245 | voltage-gated calcium channel activity |
| MF | IDA | GO:0005245 | voltage-gated calcium channel activity |
| MF | IBA | GO:0008331 | high voltage-gated calcium channel activity |
| MF | IEA | GO:0046872 | metal ion binding |
| BP | IBA | GO:0006816 | calcium ion transport |
| BP | IMP | GO:0007601 | visual perception |
Gene expression in normal tissue: CACNA1F
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in CACNA1F
Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-397014 | Muscle contraction |
| reactome | R-HSA-5576891 | Cardiac conduction |
| reactome | R-HSA-5576892 | Phase 0 - rapid depolarisation |
| reactome | R-HSA-5576893 | Phase 2 - plateau phase |
| wikipathways | WP2059 | Alzheimers Disease |
| wikipathways | WP2118 | Arrhythmogenic Right Ventricular Cardiomyopathy |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in CACNA1F
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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