GENE NAME | INPPL1 |
CHROMOSOME | 11 |
ENSEMBL ID | None |
ENTREZ ID | ENSG00000165458 |
UNIPROT ACCESSION NUMBER | O15357 |
GO MOLECULAR FUNCTION | ['protein binding', 'phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity', 'SH3 domain binding', 'actin binding', 'SH2 domain binding'] |
ESSENTIAL IN MOUSE | Essential |
PATHWAYS | hsa00562; hsa01100; hsa04070; hsa04662; hsa04666; hsa04910; R-HSA-1280215; R-HSA-1430728; R-HSA-1483249; R-HSA-1483255; R-HSA-1483257; R-HSA-1660499; R-HSA-168256; R-HSA-1855204; R-HSA-449147; R-HSA-451927; R-HSA-512988; R-HSA-556833; R-HSA-912526 |
3 combinations linked to INPPL1 | OLI1684; OLI1681; OLI1682 |
3 variants linked to INPPL1 | INPPL1:c.2659+4G>C, ; INPPL1:c.3584G>T, p.Gly1195Val; INPPL1:c.2251G>C, p.Glu751Gln |
1 disease linked to INPPL1 | Non-Syndromic genetic keratoconus |