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MIRAGE
calcium voltage-gated channel subunit alpha1 F
Summary
- Gene Symbol
-
- CACNA1F
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- Alternative splicing
- Calcium channel
- Cone-rod dystrophy
- Congenital stationary night blindness
- Disease variant
- Disulfide bond
- Glycoprotein
- Metal-binding
- Phosphoprotein
- Proteomics identification
- Reference proteome
- Repeat
- Transmembrane helix
- Vision
- Voltage-gated channel
- Proteins
| UniProt | Protein Name |
|---|---|
| O60840 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| visual perception | ||
| detection of light stimulus involved in visual perception | ||
| calcium ion transmembrane transport | ||
| calcium ion import across plasma membrane | ||
| negative regulation of voltage-gated calcium channel activity |
GO Hierarchy
biological process
response to stimulus [inference]
localization [inference]
biological regulation [inference]
regulation of biological process [inference]
regulation of localization [inference]
regulation of transport [inference]
regulation of transmembrane transport [inference]
regulation of monoatomic ion transport [inference]
negative regulation of transport [inference]
negative regulation of biological process [inference]
regulation of cellular process [inference]
regulation of transmembrane transport [inference]
negative regulation of cellular process [inference]
regulation of molecular function [inference]
| GO Term | Evidence Code | PMID |
|---|---|---|
| photoreceptor outer segment | ||
| voltage-gated calcium channel complex | ||
| voltage-gated calcium channel complex | ||
| membrane | ||
| perikaryon |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| voltage-gated calcium channel activity | ||
| voltage-gated calcium channel activity | ||
| protein binding | ||
| high voltage-gated calcium channel activity | ||
| high voltage-gated calcium channel activity |
GO Hierarchy
OrthoDB (Group)
- Group level
- Eukaryota
- Group Name
- voltage-dependent calcium channel
- Functional Category
-
- E: Amino acid transport and metabolism
- P: Inorganic ion transport and metabolism
- T: Signal transduction mechanisms
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0050534 | congenital stationary night blindness | |
| DOID:0050630 | Aland Island eye disease | |
| DOID:0110871 | congenital stationary night blindness 2A | |
| DOID:0111007 | X-linked cone-rod dystrophy 3 |
