| GENE NAME | SLC4A1 |
| CHROMOSOME | 17 |
| ENSEMBL ID | None |
| ENTREZ ID | ENSG00000004939 |
| UNIPROT ACCESSION NUMBER | P02730 |
| GO MOLECULAR FUNCTION | ['protein homodimerization activity', 'hemoglobin binding', 'anion transmembrane transporter activity', 'chloride transmembrane transporter activity', 'ankyrin binding', 'protein binding', 'bicarbonate transmembrane transporter activity', 'anion:anion antiporter activity', 'transmembrane transporter activity', 'protein-membrane adaptor activity', 'inorganic anion exchanger activity'] |
| ESSENTIAL IN MOUSE | Essential |
| PATHWAYS | hsa04966; R-HSA-1237044; R-HSA-1247673; R-HSA-1480926; R-HSA-1643685; R-HSA-382551; R-HSA-425381; R-HSA-425393; R-HSA-425407; R-HSA-5619050; R-HSA-5619102; R-HSA-5619115 |
| 3 combinations linked to SLC4A1 | OLI1615; OLI1616; OLI1613 |
| 3 variants linked to SLC4A1 | SLC4A1:c.388G>A, p.Gly130Arg; SLC4A1:c.823C>G, p.His275Asp; SLC4A1:c.2582T>A, p.Phe861Tyr |
| 1 disease linked to SLC4A1 | Dent disease |