PIKFYVE


Summary: Phosphorylated derivatives of phosphatidylinositol (PtdIns) regulate cytoskeletal functions, membrane trafficking, and receptor signaling by recruiting protein complexes to cell- and endosomal-membranes. Humans have multiple PtdIns proteins that differ by the degree and position of phosphorylation of the inositol ring. This gene encodes an enzyme (PIKfyve; also known as phosphatidylinositol-3-phosphate 5-kinase type III or PIPKIII) that phosphorylates the D-5 position in PtdIns and phosphatidylinositol-3-phosphate (PtdIns3P) to make PtdIns5P and PtdIns(3,5)biphosphate. The D-5 position also can be phosphorylated by type I PtdIns4P-5-kinases (PIP5Ks) that are encoded by distinct genes and preferentially phosphorylate D-4 phosphorylated PtdIns. In contrast, PIKfyve preferentially phosphorylates D-3 phosphorylated PtdIns. In addition to being a lipid kinase, PIKfyve also has protein kinase activity. PIKfyve regulates endomembrane homeostasis and plays a role in the biogenesis of endosome carrier vesicles from early endosomes. Mutations in this gene cause corneal fleck dystrophy (CFD); an autosomal dominant disorder characterized by numerous small white flecks present in all layers of the corneal stroma. Histologically, these flecks appear to be keratocytes distended with lipid and mucopolysaccharide filled intracytoplasmic vacuoles. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, May 2010].

NameOMIM IDEnsembl IDHGNC IDPHARMGKB IDMap Location
phosphoinositide kinase, FYVE-type zinc finger containingMIM:609414Ensembl:ENSG00000115020HGNC:HGNC:23785PA1656971162q34

Gene Categories:

KINASE

GO terms in PIKFYVE


Term TypeEvidence TypeGO Term IDGO Des.
MFIPIGO:0005515protein binding
MFIEAGO:0005524ATP binding
MFIEAGO:0008270zinc ion binding
MFTASGO:00163081-phosphatidylinositol-4-phosphate 5-kinase activity
MFTASGO:0043813phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity
BPTASGO:0006661phosphatidylinositol biosynthetic process
BPIMPGO:0006898receptor-mediated endocytosis
BPIEAGO:0032288myelin assembly
BPIMPGO:0034504protein localization to nucleus
BPIEAGO:0035556intracellular signal transduction
BPIEAGO:0036092phosphatidylinositol-3-phosphate biosynthetic process
BPIMPGO:0042147retrograde transport, endosome to Golgi
BPIEAGO:0046854phosphatidylinositol phosphorylation
BPICGO:1904562phosphatidylinositol 5-phosphate metabolic process
BPIMPGO:2000785regulation of autophagosome assembly
CCTASGO:0000139Golgi membrane
CCIEAGO:0005829cytosol
CCIEAGO:0005911cell-cell junction
CCIDAGO:0010008endosome membrane
CCIEAGO:0012506vesicle membrane
CCIDAGO:0031901early endosome membrane
CCTASGO:0031901early endosome membrane
CCTASGO:0031902late endosome membrane
CCIDAGO:0045121membrane raft
CCIEAGO:0048471perinuclear region of cytoplasm

Gene expression in normal tissue: PIKFYVE

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in PIKFYVE


DatabasePathway IDPathway Des.
reactomeR-HSA-1430728Metabolism
reactomeR-HSA-1430728Metabolism
reactomeR-HSA-1483255PI Metabolism
reactomeR-HSA-1483255PI Metabolism
reactomeR-HSA-1483257Phospholipid metabolism
reactomeR-HSA-1483257Phospholipid metabolism
reactomeR-HSA-1660514Synthesis of PIPs at the Golgi membrane
reactomeR-HSA-1660514Synthesis of PIPs at the Golgi membrane
reactomeR-HSA-1660516Synthesis of PIPs at the early endosome membrane
reactomeR-HSA-1660516Synthesis of PIPs at the early endosome membrane
reactomeR-HSA-1660517Synthesis of PIPs at the late endosome membrane
reactomeR-HSA-1660517Synthesis of PIPs at the late endosome membrane
reactomeR-HSA-556833Metabolism of lipids
reactomeR-HSA-556833Metabolism of lipids
kegghsa00562Inositol phosphate metabolism - Homo sapiens (human)
kegghsa04070Phosphatidylinositol signaling system - Homo sapiens (human)
kegghsa04145Phagosome - Homo sapiens (human)
kegghsa04810Regulation of actin cytoskeleton - Homo sapiens (human)
humancycPWY-63523-phosphoinositide biosynthesis
humancycPWY-6371superpathway of inositol phosphate compounds
smpdbSMP00011Inositol Metabolism
smpdbSMP00463Phosphatidylinositol Phosphate Metabolism
smpdbSMP00582Joubert syndrome

Gene-Drug: Aster Plot


Drug IDDrug NameModel Num.
iGMDRD427ABT73710
iGMDRD670ML 2103
iGMDRD144NSC953975
iGMDRD494Neopeltolide3
iGMDRD126Tipifarnib6
iGMDRD599Salermide5
iGMDRD772BRD47702
iGMDRD297Austocystin D3
iGMDRD679Bistramide A2
iGMDRD466Chaetocin4
iGMDRD280CYTOCHALASIN B2
iGMDRD152179324-69-72
iGMDRD171Pemetrexed4
iGMDRD782DC-45-A22
iGMDRD441TW 372
iGMDRD52Rotenone6
iGMDRD294Batimastat2
iGMDRD270Ciclosporin3
iGMDRD474Avrainvillamide3
iGMDRD60Quinoclamine2
iGMDRD23Gossypol2
iGMDRD100Zebularine1
iGMDRD74Idarubicin2
iGMDRD887Compound 23 citrate2
iGMDRD888Compound 442
iGMDRD562Navitoclax6
iGMDRD116CD4373
iGMDRD345Compound 10b [PMID: 11504634]5
iGMDRD330BRD41324
iGMDRD512nutlin 31
iGMDRD248BRD43545
iGMDRD901ELCPK1
iGMDRD154NSC237662
iGMDRD85Ursolic acid1
iGMDRD213SMR0000686502
iGMDRD267Oligomycin A2
iGMDRD137Indisulam2
iGMDRD5Tyrphostin AG 14782
iGMDRD227Fatostatin A2
iGMDRD886Compound 1541A2
iGMDRD871BRD63684
iGMDRD414MST-3122
iGMDRD329Merck603

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in PIKFYVE

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