Gene
kcnj1a.1
- ID
- ZDB-GENE-031118-55
- Name
- potassium inwardly rectifying channel subfamily J member 1a, tandem duplicate 1
- Symbol
- kcnj1a.1 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 18 Mapping Details/Browsers
- Description
- Exhibits inward rectifier potassium channel activity. Predicted to be involved in potassium ion import across plasma membrane and regulation of ion transmembrane transport. Predicted to localize to integral component of membrane. Human ortholog(s) of this gene implicated in Bartter disease type 2. Is expressed in gill; integument; and pronephric duct. Orthologous to human KCNJ1 (potassium inwardly rectifying channel subfamily J member 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 19 figures from 9 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:63534 (6 images)
Wild Type Expression Summary
- All Phenotype Data
- 1 Figure from Abbas et al., 2011
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Bartter disease type 2 | Alliance | Bartter syndrome, type 2 | 241200 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR040445 | Potassium channel, inwardly rectifying, transmembrane domain |
| Domain | IPR041647 | Inward rectifier potassium channel, C-terminal |
| Family | IPR003268 | FPotassium channel, inwardly rectifying, Kir1.1 |
| Family | IPR016449 | Potassium channel, inwardly rectifying, Kir |
| Homologous_superfamily | IPR013518 | Potassium channel, inwardly rectifying, Kir, cytoplasmic |
| Homologous_superfamily | IPR014756 | Immunoglobulin E-set |
Domain Details Per Protein
| Protein | Length | FPotassium channel, inwardly rectifying, Kir1.1 | Immunoglobulin E-set | Inward rectifier potassium channel, C-terminal | Potassium channel, inwardly rectifying, Kir | Potassium channel, inwardly rectifying, Kir, cytoplasmic | Potassium channel, inwardly rectifying, transmembrane domain |
|---|---|---|---|---|---|---|---|
|
UniProtKB:Q7SY43
|
370 | ||||||
|
UniProtKB:Q1L8I4
|
370 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
kcnj1a.1-201
(1)
|
Ensembl | 1,816 nt | ||
| mRNA |
kcnj1a.1-202
(1)
|
Ensembl | 1,601 nt | ||
| mRNA |
kcnj1a.1-203
(1)
|
Ensembl | 1,634 nt |
Interactions and Pathways
No data available
Plasmids