Details for Gene ITPR1

GENE NAME ITPR1
CHROMOSOME 3
ENSEMBL ID ENSG00000150995
ENTREZ ID 3708
UNIPROT ACCESSION NUMBER Q14643
GO MOLECULAR FUNCTION phosphatidylinositol binding; inositol 1,4,5 trisphosphate binding; protein binding; calcium ion binding; calcium-release channel activity; inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity
ESSENTIAL IN MOUSE Essential
PATHWAYS hsa04621; R-HSA-983705; R-HSA-195721; hsa04723; R-HSA-372790; R-HSA-9006925; R-HSA-3858494; R-HSA-418457; R-HSA-2871809; R-HSA-5578775; hsa04921; R-HSA-163685; hsa04912; hsa04210; hsa04611; hsa04726; hsa04020; R-HSA-162582; hsa04925; hsa05022; R-HSA-9664323; R-HSA-983695; hsa05131; hsa04724; R-HSA-2029485; R-HSA-9658195; hsa04218; hsa05205; R-HSA-139853; R-HSA-418594; R-HSA-5663205; hsa04371; hsa04725; hsa04728; R-HSA-392154; R-HSA-418346; hsa04922; hsa04928; hsa05163; R-HSA-5576891; R-HSA-9664433; R-HSA-416476; R-HSA-112040; R-HSA-112043; hsa04972; R-HSA-381676; hsa04927; R-HSA-1489509; R-HSA-418360; R-HSA-422356; R-HSA-1280218; R-HSA-168249; R-HSA-5621481; hsa04935; hsa04270; hsa04713; hsa04970; R-HSA-1643685; R-HSA-109582; hsa04114; hsa04625; hsa04730; hsa04720; hsa05167; R-HSA-5607763; R-HSA-9006934; R-HSA-76002; hsa04750; hsa05016; R-HSA-2454202; hsa05017; R-HSA-9662851; hsa04924; hsa04022; R-HSA-194138; R-HSA-4086398; R-HSA-114508; hsa04934; R-HSA-111885; R-HSA-168256; hsa04140; hsa04929; R-HSA-388396; R-HSA-5607764; R-HSA-397014; hsa04918; hsa04971; R-HSA-2029480; hsa05170; R-HSA-1430728; hsa05012; hsa04070; hsa05010; hsa05020; hsa04540; hsa04915; R-HSA-4420097; R-HSA-5218921
2 combinations linked to ITPR1 OLI332; OLI331
2 variants linked to ITPR1 ITPR1:c.3416A>G, p.Asp1139Gly; ITPR1:c.5320G>A, p.Gly1774Arg
1 disease linked to ITPR1 Amyotrophic lateral sclerosis
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