Gene
kcnma1a
- ID
- ZDB-GENE-070202-9
- Name
- potassium large conductance calcium-activated channel, subfamily M, alpha member 1a
- Symbol
- kcnma1a Nomenclature History
- Previous Names
-
- kcnma1
- slo1a (1)
- si:ch211-39f22.2
- Type
- protein_coding_gene
- Location
- Chr: 13 Mapping Details/Browsers
- Description
- Enables calcium ion binding activity and calcium-activated potassium channel activity. Involved in potassium ion transmembrane transport. Acts upstream of or within response to auditory stimulus. Located in membrane. Is expressed in several structures, including brain; otic vesicle; pectoral fin bud; peripheral olfactory organ; and presumptive diencephalon. Human ortholog(s) of this gene implicated in Alzheimer's disease; idiopathic 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
- 4 figures from 4 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 2 figures from Rohmann et al., 2014
- Cross-Species Comparison
- Alliance
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 |
Domain | IPR055153 | Calcium-activated potassium channel slowpoke-like, RCK domain |
Family | IPR047871 | Calcium-activated potassium channel slowpoke-like |
Homologous_superfamily | IPR036291 | NAD(P)-binding domain superfamily |
Domain Details Per Protein
Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
---|---|---|---|---|---|
mRNA |
kcnma1a-201
(1)
|
Ensembl | 4,328 nt | ||
mRNA |
kcnma1a-205
(1)
|
Ensembl | 3,823 nt | ||
mRNA |
kcnma1a-206
(1)
|
Ensembl | 3,690 nt | ||
ncRNA |
kcnma1a-002
(1)
|
Ensembl | 849 nt | ||
ncRNA |
kcnma1a-003
(1)
|
Ensembl | 725 nt | ||
ncRNA |
kcnma1a-004
(1)
|
Ensembl | 857 nt |
Interactions and Pathways
No data available
Plasmids