| GENE NAME | SLC3A1 |
| CHROMOSOME | 2 |
| ENSEMBL ID | ENSG00000138079 |
| ENTREZ ID | 6519 |
| UNIPROT ACCESSION NUMBER | Q07837 |
| GO MOLECULAR FUNCTION | protein binding; basic amino acid transmembrane transporter activity; amino acid transmembrane transporter activity; catalytic activity; L-cystine transmembrane transporter activity |
| ESSENTIAL IN MOUSE | Non-essential |
| PATHWAYS | R-HSA-425393; R-HSA-5619113; hsa04974; R-HSA-1643685; R-HSA-425407; R-HSA-5660883; hsa04974; R-HSA-5619115; R-HSA-5619102; R-HSA-382551; R-HSA-352230 |
| 5 combinations linked to SLC3A1 | OLI181; OLI179; OLI180; OLI166; OLI178 |
| 3 variants linked to SLC3A1 | SLC3A1:p.Glu298_Asp539dup; SLC3A1:c.647C>T, p.Thr216Met; SLC3A1:c.1400T>C, p.Met467Thr |
| 1 disease linked to SLC3A1 | Cystinuria |