Gene
slc12a1
- ID
- ZDB-GENE-080130-3
- Name
- solute carrier family 12 member 1
- Symbol
- slc12a1 Nomenclature History
- Previous Names
-
- nkcc2 (1)
- si:ch73-34a12.1
- Type
- protein_coding_gene
- Location
- Chr: 18 Mapping Details/Browsers
- Description
- Predicted to have sodium:potassium:chloride symporter activity. Predicted to be involved in cell volume homeostasis; inorganic ion homeostasis; and inorganic ion transmembrane transport. Localizes to apical plasma membrane. Human ortholog(s) of this gene implicated in Bartter disease and Bartter disease type 1. Is expressed in eye and renal system. Orthologous to human SLC12A1 (solute carrier family 12 member 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 52 figures from 23 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Bartter disease type 1 | Alliance | Bartter syndrome, type 1 | 601678 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Amino acid permease, N-terminal | Amino acid permease/ SLC12A domain | SLC12A transporter, C-terminal | SLC12A transporter family | Solute carrier family 12 member 1/2 |
|---|---|---|---|---|---|---|
|
UniProtKB:A0A8M9PFN1
|
1037 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
slc12a1-201
(1)
|
Ensembl | 2,046 nt |
Interactions and Pathways
No data available
| Name | Type | Antigen Genes | Isotype | Host Organism | Assay | Source | Citations |
|---|---|---|---|---|---|---|---|
| Ab1-slc12a | monoclonal | IgG1 | Mouse |
|
Developmental Studies Hybridoma Bank
|
5 |
Plasmids
No data available