Entity Details

Primary name PIKFYVE
Entity type gene
Source Source Link

Details

PrimaryID200576
RefseqGeneNG_021188
SymbolPIKFYVE
Namephosphoinositide kinase, FYVE-type zinc finger containing
Chromosome2
Location2q34
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2002-04-30
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsFYV1_HUMAN

GO terms

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GOName
GO:0000139 Golgi membrane
GO:0000285 1-phosphatidylinositol-3-phosphate 5-kinase activity
GO:0004674 protein serine/threonine kinase activity
GO:0005524 ATP binding
GO:0005829 cytosol
GO:0005911 cell-cell junction
GO:0006612 protein targeting to membrane
GO:0006661 phosphatidylinositol biosynthetic process
GO:0008270 zinc ion binding
GO:0010008 endosome membrane
GO:0016308 1-phosphatidylinositol-4-phosphate 5-kinase activity
GO:0016887 ATP hydrolysis activity
GO:0019065 receptor-mediated endocytosis of virus by host cell
GO:0019886 antigen processing and presentation of exogenous peptide antigen via MHC class II
GO:0030593 neutrophil chemotaxis
GO:0030670 phagocytic vesicle membrane
GO:0031901 early endosome membrane
GO:0031902 late endosome membrane
GO:0032288 myelin assembly
GO:0032438 melanosome organization
GO:0034504 protein localization to nucleus
GO:0035556 intracellular signal transduction
GO:0036289 peptidyl-serine autophosphorylation
GO:0042147 retrograde transport, endosome to Golgi
GO:0043231 intracellular membrane-bounded organelle
GO:0045121 membrane raft
GO:0048471 perinuclear region of cytoplasm
GO:0052810 1-phosphatidylinositol-5-kinase activity
GO:0090382 phagosome maturation
GO:0090385 phagosome-lysosome fusion
GO:0106310 protein serine kinase activity
GO:0106311 protein threonine kinase activity
GO:1903100 1-phosphatidyl-1D-myo-inositol 3,5-bisphosphate metabolic process
GO:1903426 regulation of reactive oxygen species biosynthetic process
GO:1904562 phosphatidylinositol 5-phosphate metabolic process
GO:2000785 regulation of autophagosome assembly

Diseases

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Disease IDSourceNameDescription
121850 OMIMCorneal dystrophy, fleck (CFD)A form of stromal corneal dystrophy characterized by numerous small white flecks scattered in all levels of the stroma, with configurations varying from semicircular to wreath-like, curvilinear, or punctate. Although CFD may occasionally cause mild photophobia, patients are typically asymptomatic and have normal vision. The disease is caused by variants affecting the gene represented in this entry.