| GENE NAME | PKD1 |
| CHROMOSOME | 16 |
| ENSEMBL ID | None |
| ENTREZ ID | ENSG00000008710 |
| UNIPROT ACCESSION NUMBER | P98161 |
| GO MOLECULAR FUNCTION | ['protein kinase binding', 'protein binding', 'transmembrane transporter binding', 'protein domain specific binding', 'calcium channel activity', 'carbohydrate binding', 'Wnt-activated receptor activity'] |
| ESSENTIAL IN MOUSE | Essential |
| PATHWAYS | R-HSA-1852241; R-HSA-5617833; R-HSA-5620916; R-HSA-5620920 |
| 5 combinations linked to PKD1 | OLI963; OLI326; OLI1748; OLI327; OLI1705 |
| 4 variants linked to PKD1 | PKD1:p.Ser123Thr; PKD1:c.4343C>T, p.Ser1448Phe; PKD1:c.11494_11495del, p.Asp3832ProfsTer128; PKD1:c.2624C>T, p.Pro875Leu |
| 3 diseases linked to PKD1 | Autosomal dominant polycystic kidney disease; Autosomal recessive polycystic kidney disease; 46,XY disorder of sex development |