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 enable high voltage-gated calcium channel activity. Predicted to be involved in calcium ion import across plasma membrane. Predicted to act upstream of or within calcium ion transmembrane transport and regulation of monoatomic ion transmembrane transport. Predicted to be located in membrane. Predicted to be part of voltage-gated calcium channel complex. Is expressed in atrium; cardiac ventricle; and retinal inner nuclear layer. 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. 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