| Gene Information | |
|---|---|
| Gene Name | KCC1 |
| Organism | Homo sapiens (Human) |
| Gene Length | 1085 |
| Protein Names | Solute carrier family 12 member 4 (Electroneutral potassium-chloride cotransporter 1) (Erythroid K-Cl cotransporter 1) (hKCC1) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | NA |
| Evolutionary Stage | NA |
| AlphaFoldDB | Q9UP95 |
| Gene Card | SLC12A4 |
| Uniprot ID | Q9UP95 |
| Pfam | PF00324; PF03522 |
| In ASD | no |
| Allosteric Prediction | NA |
| Ortholog in Animals | NA |
| Ohnologs | NA |
| Paralogs | NA |
| Tissue | NA |
| Tissue Specificity | Ubiquitous. Levels are much higher in erythrocytes from patients with Hb SC and Hb SS compared to normal AA erythrocytes. This may contribute to red blood cell dehydration and to the manifestation of sickle cell disease by increasing the intracellular concentration of HbS. Isoform 1 was not detected in circulating reticulocytes. |
| Pharmacological Animal Models | NA |
| Gene Ontology (biological process) |
|
| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | 6KKR (EM 2.90A ) 6KKT (EM 2.90A ) 6KKU (EM 3.50A ) 7AIP (EM 3.12A ) 7AIQ (EM 3.72A ) 7AIR (EM 3.66A ) 7TTH (EM 3.25A ) 7TTI (EM 3.50A ) |
| DBSNP | NA |
| Subcellular location [CC] | Membrane {ECO:0000269|PubMed:10913127}; Multi-pass membrane protein {ECO:0000255}. |
| Mouse PG classification | NA |
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