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 |
|---|---|---|---|---|---|
| calcium voltage-gated channel subunit alpha1 F | MIM:300110 | Ensembl:ENSG00000102001 | HGNC:HGNC:1393 | PA26010 | Xp11.23 |
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 |
| BP | IEA | GO:0034765 | regulation of ion transmembrane transport |
| BP | IEA | GO:0043029 | T cell homeostasis |
| BP | IEA | GO:0050856 | regulation of T cell receptor signaling pathway |
| BP | IMP | GO:0050908 | detection of light stimulus involved in visual perception |
| BP | IBA | GO:0070509 | calcium ion import |
| BP | IEA | GO:0070588 | calcium ion transmembrane transport |
| CC | IEA | GO:0001750 | photoreceptor outer segment |
| CC | TAS | GO:0005886 | plasma membrane |
| CC | IDA | GO:0005891 | voltage-gated calcium channel complex |
| CC | IDA | GO:0016021 | integral component of membrane |
| CC | IEA | GO:0043204 | perikaryon |
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 |
| wikipathways | WP382 | MAPK Signaling Pathway |
| pharmgkb | PA152241951 | Celecoxib Pathway, Pharmacodynamics |
| pharmgkb | PA165959313 | Valproic Acid Pathway, Pharmacodynamics |
| pharmgkb | PA165964473 | Pathway_PA165964473 |
| kegg | hsa04010 | MAPK signaling pathway - Homo sapiens (human) |
| kegg | hsa04020 | Calcium signaling pathway - Homo sapiens (human) |
| kegg | hsa04022 | cGMP-PKG signaling pathway - Homo sapiens (human) |
| kegg | hsa04024 | cAMP signaling pathway - Homo sapiens (human) |
| kegg | hsa04260 | Cardiac muscle contraction - Homo sapiens (human) |
| kegg | hsa04261 | Adrenergic signaling in cardiomyocytes - Homo sapiens (human) |
| kegg | hsa04270 | Vascular smooth muscle contraction - Homo sapiens (human) |
| kegg | hsa04723 | Retrograde endocannabinoid signaling - Homo sapiens (human) |
| kegg | hsa04725 | Cholinergic synapse - Homo sapiens (human) |
| kegg | hsa04726 | Serotonergic synapse - Homo sapiens (human) |
| kegg | hsa04727 | GABAergic synapse - Homo sapiens (human) |
| kegg | hsa04911 | Insulin secretion - Homo sapiens (human) |
| kegg | hsa04912 | GnRH signaling pathway - Homo sapiens (human) |
| kegg | hsa04921 | Oxytocin signaling pathway - Homo sapiens (human) |
| kegg | hsa04924 | Renin secretion - Homo sapiens (human) |
| kegg | hsa04925 | Aldosterone synthesis and secretion - Homo sapiens (human) |
| kegg | hsa04927 | Cortisol synthesis and secretion - Homo sapiens (human) |
| kegg | hsa04934 | Cushing,s syndrome - Homo sapiens (human) |
| kegg | hsa05010 | Alzheimer,s disease - Homo sapiens (human) |
| kegg | hsa05410 | Hypertrophic cardiomyopathy (HCM) - Homo sapiens (human) |
| kegg | hsa05412 | Arrhythmogenic right ventricular cardiomyopathy (ARVC) - Homo sapiens (human) |
| kegg | hsa05414 | Dilated cardiomyopathy (DCM) - Homo sapiens (human) |
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD79 | Gemcitabine | 2 |
| iGMDRD670 | ML 210 | 6 |
| iGMDRD150 | RITA | 2 |
| iGMDRD148 | Pifithrin-mu | 2 |
| iGMDRD387 | CHIR-99021 | 3 |
| iGMDRD554 | CHEMBL1434137 | 3 |
| iGMDRD154 | NSC23766 | 3 |
| iGMDRD883 | CIL55A | 1 |
| iGMDRD280 | CYTOCHALASIN B | 2 |
| iGMDRD466 | Chaetocin | 3 |
| iGMDRD297 | Austocystin D | 2 |
| iGMDRD61 | Kinetin riboside | 1 |
| iGMDRD341 | Triacsin c | 5 |
| iGMDRD309 | 17AAG | 1 |
| iGMDRD231 | Importazole | 4 |
| iGMDRD870 | BRD63610 | 5 |
| iGMDRD481 | Dactolisib | 1 |
| iGMDRD318 | PAC-1 | 1 |
| iGMDRD255 | SB225002 | 2 |
| iGMDRD138 | PX 12 | 4 |
| iGMDRD137 | Indisulam | 1 |
| iGMDRD64 | Parbendazole | 1 |
| iGMDRD505 | Pevonedistat | 5 |
| iGMDRD366 | PI-103 | 7 |
| iGMDRD329 | Merck60 | 3 |
| iGMDRD888 | Compound 44 | 3 |
| iGMDRD887 | Compound 23 citrate | 2 |
| iGMDRD286 | Nsc 632839 | 6 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in CACNA1F
CLASSFICATION
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