Gene
cacna1fb
- ID
- ZDB-GENE-031104-1
- Name
- calcium channel, voltage-dependent, L type, alpha 1F subunit
- Symbol
- cacna1fb Nomenclature History
- Previous Names
-
- cacna1f
- ZfCav1.4 (1)
- Type
- protein_coding_gene
- Location
- Chr: 8 Mapping Details/Browsers
- Description
- Predicted to have high voltage-gated calcium channel activity. Predicted to be involved in calcium ion import. Predicted to localize to voltage-gated calcium channel complex. Human ortholog(s) of this gene implicated in Aland Island eye disease; X-linked cone-rod dystrophy 3; congenital stationary night blindness; and congenital stationary night blindness 2A. Is expressed in atrium; cardiac ventricle; and retinal inner nuclear layer. Orthologous to human CACNA1F (calcium voltage-gated channel subunit alpha1 F).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 4 figures from 4 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Aland Island eye disease | Alliance | Aland Island eye disease | 300600 |
| congenital stationary night blindness 2A | Alliance | Night blindness, congenital stationary (incomplete), 2A, X-linked | 300071 |
| X-linked cone-rod dystrophy 3 | Alliance | Cone-rod dystrophy, X-linked, 3 | 300476 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Binding_site | IPR018247 | EF-Hand 1, calcium-binding site |
| Domain | IPR005821 | Ion transport domain |
| Domain | IPR014873 | Voltage-dependent calcium channel, alpha-1 subunit, IQ domain |
| Domain | IPR031649 | Voltage-dependent L-type calcium channel, IQ-associated domain |
| Domain | IPR031688 | Voltage-gated calcium channel subunit alpha, C-terminal |
| Family | IPR002077 | Voltage-dependent calcium channel, alpha-1 subunit |
| Family | IPR005446 | Voltage-dependent calcium channel, L-type, alpha-1 subunit |
| Family | IPR050599 | Voltage-dependent calcium channel alpha-1 subunit |
| Homologous_superfamily | IPR027359 | Voltage-dependent channel domain superfamily |
Domain Details Per Protein
| Protein | Length | EF-Hand 1, calcium-binding site | Ion transport domain | Voltage-dependent calcium channel alpha-1 subunit | Voltage-dependent calcium channel, alpha-1 subunit | Voltage-dependent calcium channel, alpha-1 subunit, IQ domain | Voltage-dependent calcium channel, L-type, alpha-1 subunit | Voltage-dependent channel domain superfamily | Voltage-dependent L-type calcium channel, IQ-associated domain | Voltage-gated calcium channel subunit alpha, C-terminal |
|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:F1QH36
|
2065 | |||||||||
|
UniProtKB:A0A8M9PQW6
|
2068 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
cacna1fb-201
(1)
|
Ensembl | 7,710 nt | ||
| mRNA |
cacna1fb-202
(1)
|
Ensembl | 4,835 nt | ||
| mRNA |
cacna1fb-203
(1)
|
Ensembl | 1,032 nt |
Interactions and Pathways
No data available
Plasmids
No data available