Gene
kcnma1b
- ID
- ZDB-GENE-101209-2
- Name
- potassium large conductance calcium-activated channel, subfamily M, alpha member 1b
- Symbol
- kcnma1b Nomenclature History
- Previous Names
-
- slo1b (1)
- Type
- protein_coding_gene
- Location
- Chr: 12 Mapping Details/Browsers
- Description
- Predicted to enable large conductance calcium-activated potassium channel activity. Acts upstream of or within heart contraction and response to auditory stimulus. Predicted to be located in plasma membrane. Predicted to be part of monoatomic ion channel complex. Predicted to be active in postsynaptic 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; 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 |
|---|---|---|---|
| paroxysmal nonkinesigenic dyskinesia 3 | Alliance | Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy | 609446 |
| Cerebellar atrophy, developmental delay, and seizures | 617643 | ||
| Liang-Wang syndrome | 618729 | ||
| {Epilepsy, idiopathic generalized, susceptibility to, 16} | 618596 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR003929 | Calcium-activated potassium channel BK, alpha subunit |
| Domain | IPR005821 | Ion transport 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
| Protein | Additional Resources | Length | Ca2+-activated K+ channel Slowpoke-like, C-terminal domain | Calcium-activated potassium channel BK, alpha subunit | Calcium-activated potassium channel slowpoke-like | Ion transport domain | NAD(P)-binding domain superfamily |
|---|---|---|---|---|---|---|---|
| UniProtKB:A0A8M9PXE8 | InterPro | 1107 |
- 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
- Comparative Orthology
- Alliance