Q9Y2I7.3
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
61,595 Da
NCBI Official Full Name
1-phosphatidylinositol 3-phosphate 5-kinase
NCBI Official Synonym Full Names
phosphoinositide kinase, FYVE-type zinc finger containing
NCBI Official Synonym Symbols
CFD; FAB1; HEL37; PIP5K; PIP5K3; ZFYVE29 [Similar Products]
NCBI Protein Information
1-phosphatidylinositol 3-phosphate 5-kinase
UniProt Protein Name
1-phosphatidylinositol 3-phosphate 5-kinase
UniProt Synonym Protein Names
FYVE finger-containing phosphoinositide kinase; PIKfyve; Phosphatidylinositol 3-phosphate 5-kinase type III; PIPkin-III; Type III PIP kinase
UniProt Synonym Gene Names
KIAA0981; PIP5K3; Phosphatidylinositol 3-phosphate 5-kinase; PIPkin-III; Type III PIP kinase [Similar Products]
UniProt Entry Name
FYV1_HUMAN
NCBI Summary for PIKFYVE
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]
UniProt Comments for PIKFYVE
PIKFYVE: The PI(3,5)P2 regulatory complex regulates both the synthesis and turnover of phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2). Catalyzes the phosphorylation of phosphatidylinositol 3-phosphate on the fifth hydroxyl of the myo- inositol ring, to form phosphatidylinositol 3,5-bisphosphate. Required for endocytic-vacuolar pathway and nuclear migration. Plays a role in the biogenesis of endosome carrier vesicles (ECV)/ multivesicular bodies (MVB) transport intermediates from early endosomes. Defects in PIKFYVE are the cause of corneal fleck dystrophy (CFD). CFD is an autosomal dominant disorder of the cornea characterized by numerous small white flecks scattered in all levels of the stroma. Although CFD may occasionally cause mild photophobia, patients are typically asymptomatic and have normal vision. 4 isoforms of the human protein are produced by alternative splicing.
Protein type: EC 2.7.1.150; Motility/polarity/chemotaxis; Kinase, lipid; Carbohydrate Metabolism - inositol phosphate
Chromosomal Location of Human Ortholog: 2q34
Cellular Component: early endosome membrane; endosome membrane; Golgi membrane; late endosome membrane; lipid raft
Molecular Function: 1-phosphatidylinositol-4-phosphate 5-kinase activity; phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity; protein binding
Biological Process: phosphatidylinositol biosynthetic process; receptor-mediated endocytosis; retrograde transport, endosome to Golgi
Disease: Corneal Dystrophy, Fleck
Research Articles on PIKFYVE
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Products associated with PIKFYVE blocking peptide
Pathways associated with PIKFYVE blocking peptide
Diseases associated with PIKFYVE blocking peptide
Organs/Tissues associated with PIKFYVE blocking peptide
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