ZFIN is now using GRCz12tu for Genomic Data
Gene
cacna1hb
- ID
- ZDB-GENE-090312-128
- Name
- calcium voltage-gated channel subunit alpha1 Hb
- Symbol
- cacna1hb Nomenclature History
- Previous Names
-
- si:ch211-201p7.4
- si:ch211-22n13.1
- Type
- protein_coding_gene
- Location
- Chr: 1 Mapping Details/Browsers
- Genome Assembly
- GRCz12tu
- Annotation Status
- Current
- Description
- Predicted to enable high voltage-gated calcium channel activity. Predicted to be involved in calcium ion import across plasma membrane. Predicted to be located in plasma membrane. Predicted to be part of voltage-gated calcium channel complex. Is expressed in atrium and cardiac ventricle. Human ortholog(s) of this gene implicated in childhood absence epilepsy and familial hyperaldosteronism IV. Orthologous to human CACNA1H (calcium voltage-gated channel subunit alpha1 H).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 2 figures from 2 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 |
|---|---|---|---|
| familial hyperaldosteronism IV | Alliance | Hyperaldosteronism, familial, type IV | 617027 |
| {Epilepsy, childhood absence, susceptibility to, 6} | 611942 | ||
| {Epilepsy, idiopathic generalized, susceptibility to, 6} | 611942 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR005821 | Ion transport domain |
| Family | IPR002077 | Voltage-dependent calcium channel, alpha-1 subunit |
| Family | IPR005445 | Voltage-dependent calcium channel, T-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 | Additional Resources | Length | Ion transport domain | Voltage-dependent calcium channel alpha-1 subunit | Voltage-dependent calcium channel, alpha-1 subunit | Voltage-dependent calcium channel, T-type, alpha-1 subunit | Voltage-dependent channel domain superfamily |
|---|---|---|---|---|---|---|---|
| UniProtKB:A0A8M9Q7Y9 | InterPro | 2102 | |||||
| UniProtKB:A0AC58JG36 | InterPro | 2102 | |||||
| UniProtKB:A0AC58JG58 | InterPro | 2102 |
- Genome Browsers
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
cacna1h-202
(1)
|
Ensembl | 4,788 nt | ||
| mRNA |
cacna1hb-201
(1)
|
Ensembl | 5,045 nt |
Interactions and Pathways
No data available
Plasmids
No data available
- Genome Browsers