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
- 1 figure from Gabashvili et al., 2007
- 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 |
|---|---|---|---|
| Cerebellar atrophy, developmental delay, and seizures | 617643 | ||
| Liang-Wang syndrome | 618729 | ||
| Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy | 609446 | ||
| {Epilepsy, idiopathic generalized, susceptibility to, 16} | 618596 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR003148 | Regulator of K+ conductance, N-terminal |
| Domain | IPR003929 | Calcium-activated potassium channel BK, alpha subunit |
| Domain | IPR005821 | Ion transport domain |
| Domain | IPR013099 | Potassium channel domain |
| Family | IPR024939 | Calcium-activated potassium channel Slo-1 |
| Homologous_superfamily | IPR036291 | NAD(P)-binding domain superfamily |
Domain Details Per Protein
| Protein | Length | Calcium-activated potassium channel BK, alpha subunit | Calcium-activated potassium channel Slo-1 | Ion transport domain | NAD(P)-binding domain superfamily | Potassium channel domain | Regulator of K+ conductance, N-terminal |
|---|---|---|---|---|---|---|---|
|
UniProtKB:B7ZC96
|
1184 | ||||||
|
UniProtKB:F1QYL4
|
1229 | ||||||
|
UniProtKB:B7TLZ0
|
206 | ||||||
|
UniProtKB:A0A2R8QRZ7
|
1229 |
| Type | Name | Length (nt) | Analysis |
|---|---|---|---|
| mRNA |
kcnma1a-205
(1)
|
3823 nt | |
| ncRNA |
kcnma1a-002
(1)
|
849 nt | |
| ncRNA |
kcnma1a-003
(1)
|
725 nt | |
| ncRNA |
kcnma1a-004
(1)
|
857 nt |
Interactions and Pathways
No data available
Plasmids