GENE NAME | SLC34A1 |
CHROMOSOME | 5 |
ENSEMBL ID | None |
ENTREZ ID | ENSG00000131183 |
UNIPROT ACCESSION NUMBER | Q06495 |
GO MOLECULAR FUNCTION | ['PDZ domain binding', 'protein binding', 'sodium:phosphate symporter activity', 'identical protein binding', 'protein-containing complex binding'] |
ESSENTIAL IN MOUSE | Essential |
PATHWAYS | hsa04928; hsa04978; hsa04928; hsa04978; R-HSA-1643685; R-HSA-382551; R-HSA-392499; R-HSA-425393; R-HSA-425407; R-HSA-427589; R-HSA-427652; R-HSA-5619040; R-HSA-5619102; R-HSA-5619115; R-HSA-5683826; hsa04928; hsa04978; hsa04928; hsa04978 |
5 combinations linked to SLC34A1 | OLI1790; OLI1613; OLI1614; OLI008; OLI1791 |
4 variants linked to SLC34A1 | SLC34A1:c.1535G>A, p.Arg512His; SLC34A1:c.80C>T, p.Thr27Met; SLC34A1:c.1172C>T, p.Thr391Met; SLC34A1:c.272_292del21, p.Val91_Ala97del |
2 diseases linked to SLC34A1 | Dent disease; Hereditary hypophosphatemic rickets with hypercalciuria |