| Gene Information | |
|---|---|
| Gene Name | SLC12A4 |
| 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 | solute carrier family 12 member 4 |
| Target Type | NA |
| Gene Age | 1292 ( ENSG00000124067 ) |
| Evolutionary Stage | Euk_Archaea |
| AlphaFoldDB | Q9UP95 |
| Gene Card | SLC12A4 |
| Uniprot ID | Q9UP95 |
| Pfam | PF00324; PF03522 |
| In ASD | no |
| Allosteric Prediction | yes (0.183794358) |
| Ortholog in Animals | Alpaca_ SLC12A4 ( ortholog_one2one ) Dog_ SLC12A4 ( ortholog_one2one ) GuineaPig_ SLC12A4 ( ortholog_one2one ) Macaque_ SLC12A4 ( ortholog_one2one ) Mouse_ Slc12a4 ( ortholog_one2one ) Pig_ SLC12A4 ( ortholog_one2one ) Rat_ Slc12a4 ( ortholog_one2one ) Rabbit_ SLC12A4 ( ortholog_one2one ) |
| Ohnologs | SLC12A5, SLC12A7 |
| Paralogs | SLC12A2, SLC12A8, SLC12A7, SLC12A1, SLC12A3, SLC12A5, SLC12A6, SLC12A9 |
| 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) |
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| 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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