Details for Gene INPPL1

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

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