ZFIN is now using GRCz12tu for Genomic Data
Gene
kcnma1b
- ID
- ZDB-GENE-101209-2
- Name
- potassium calcium-activated channel subfamily M alpha 1b
- Symbol
- kcnma1b Nomenclature History
- Previous Names
-
- slo1b (1)
- Type
- protein_coding_gene
- Location
- Chr: 12 Mapping Details/Browsers
- Genome Assembly
- GRCz12tu
- Annotation Status
- Current
- Description
- Predicted to enable monoatomic ion channel activity. Acts upstream of or within heart contraction and response to auditory stimulus. Predicted to be located in plasma membrane. Is expressed in several structures, including brain; neural rod; olfactory placode; otic vesicle; and presumptive diencephalon. Human ortholog(s) of this gene implicated in Alzheimer's disease; cerebellar atrophy, developmental delay, and seizures; disease of mental health; generalized epilepsy; and paroxysmal nonkinesigenic dyskinesia 3. Orthologous to human KCNMA1 (potassium calcium-activated channel subfamily M alpha 1).
- 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
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| cerebellar atrophy, developmental delay, and seizures | Alliance | Cerebellar atrophy, developmental delay, and seizures | 617643 |
| paroxysmal nonkinesigenic dyskinesia 3 | Alliance | Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy | 609446 |
| Liang-Wang syndrome | 618729 | ||
| {Epilepsy, idiopathic generalized, susceptibility to, 16} | 618596 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR003148 | Regulator of K+ conductance, N-terminal lobe |
| Domain | IPR003929 | Calcium-activated potassium channel BK, alpha subunit |
| Domain | IPR005821 | Ion transport domain |
| Domain | IPR013099 | Potassium channel domain |
| Domain | IPR048735 | Ca2+-activated K+ channel Slowpoke-like, C-terminal domain |
| Family | IPR047871 | Calcium-activated potassium channel slowpoke-like |
| Homologous_superfamily | IPR036291 | NAD(P)-binding domain superfamily |
Domain Details Per Protein
- Genome Browsers
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
kcnma1-201
(1)
|
Ensembl | 1,389 nt |
Interactions and Pathways
No data available
Plasmids
- Genome Browsers
- Comparative Orthology
- Alliance