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
- Predicted to have large conductance calcium-activated potassium channel activity. Involved in response to auditory stimulus. Predicted to localize to postsynaptic membrane. Is expressed in otic vesicle. Human ortholog(s) of this gene implicated in Alzheimer's disease and idiopathic generalized epilepsy. 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 |
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