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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Disease related genes Enzymes Human disease related genes Metabolic proteins Potential drug targets
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
2
Cytoband
q34
Chromosome location (bp)
208266255 - 208358746
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Dual specificity kinase implicated in myriad essential cellular processes such as maintenance of endomembrane homeostasis, and endocytic-vacuolar pathway, lysosomal trafficking, nuclear transport, stress-or hormone-induced signaling and cell cycle progression 1. The PI(3,5)P2 regulatory complex regulates both the synthesis and turnover of phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2). Sole enzyme to catalyze the phosphorylation of phosphatidylinositol 3-phosphate on the fifth hydroxyl of the myo-inositol ring, to form (PtdIns(3,5)P2) 2. Also catalyzes the phosphorylation of phosphatidylinositol on the fifth hydroxyl of the myo-inositol ring, to form phosphatidylinositol 5-phosphate (PtdIns(5)P) 3. Has serine-protein kinase activity and is able to autophosphorylate and transphosphorylate. Autophosphorylation inhibits its own phosphatidylinositol 3-phosphate 5-kinase activity, stimulates FIG4 lipid phosphatase activity and down-regulates lipid product formation 4. Involved in key endosome operations such as fission and fusion in the course of endosomal cargo transport 5. Required for the maturation of early into late endosomes, phagosomes and lysosomes 6. Regulates vacuole maturation and nutrient recovery following engulfment of macromolecules, initiates the redistribution of accumulated lysosomal contents back into the endosome network 7. Critical regulator of the morphology, degradative activity, and protein turnover of the endolysosomal system in macrophages and platelets (By similarity). In neutrophils, critical to perform chemotaxis, generate ROS, and undertake phagosome fusion with lysosomes 8. Plays a key role in the processing and presentation of antigens by major histocompatibility complex class II (MHC class II) mediated by CTSS 9. Regulates melanosome biogenesis by controlling the delivery of proteins from the endosomal compartment to the melanosome 10. Essential for systemic glucose homeostasis, mediates insulin-induced signals for endosome/actin remodeling in the course of GLUT4 translocation/glucose uptake activation (By similarity). Supports microtubule-based endosome-to-trans-Golgi network cargo transport, through association with SPAG9 and RABEPK (By similarity). Mediates EGFR trafficking to the nucleus 11....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Kinase, Transferase
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Host-virus interaction, Lipid metabolism
Ligand (UniProt)i
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
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. The protein plays a key role in cell entry of ebola virus and SARS-CoV-2 by endocytosis 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. [provided by RefSeq, Jul 2021]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The ENSP identifier links to the Ensembl website protein summary, while the ENST identifier links to the Ensembl website transcript summary for the selected splice variant. The data in the UniProt column can be expanded to show links to all matching UniProt identifiers for this protein.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The Gene Ontology terms assigned to this protein are listed if expanding the Gene ontology column. The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide (according to a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius) and the number of predicted transmembrane region(s) (according to MDM) are also reported.
Enzymes ENZYME proteins Transferases Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Potential drug targets Human disease related genes Nervous system diseases Eye disease Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000139[Golgi membrane] GO:0000166[nucleotide binding] GO:0000285[1-phosphatidylinositol-3-phosphate 5-kinase activity] GO:0004674[protein serine/threonine kinase activity] GO:0005515[protein binding] GO:0005524[ATP binding] GO:0005768[endosome] GO:0005829[cytosol] GO:0005911[cell-cell junction] GO:0006612[protein targeting to membrane] GO:0006629[lipid metabolic process] GO:0006661[phosphatidylinositol biosynthetic process] GO:0008270[zinc ion binding] GO:0010008[endosome membrane] GO:0012506[vesicle membrane] GO:0016020[membrane] GO:0016301[kinase activity] GO:0016307[phosphatidylinositol phosphate kinase activity] GO:0016308[1-phosphatidylinositol-4-phosphate 5-kinase activity] GO:0016310[phosphorylation] GO:0016740[transferase 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:0031410[cytoplasmic vesicle] 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:0036092[phosphatidylinositol-3-phosphate biosynthetic process] GO:0036289[peptidyl-serine autophosphorylation] GO:0042147[retrograde transport, endosome to Golgi] GO:0043813[phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity] GO:0045121[membrane raft] GO:0046488[phosphatidylinositol metabolic process] GO:0046854[phosphatidylinositol phosphate biosynthetic process] GO:0046872[metal ion binding] 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: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]
Enzymes ENZYME proteins Transferases Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Potential drug targets Human disease related genes Nervous system diseases Eye disease Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000139[Golgi membrane] GO:0000166[nucleotide binding] GO:0000285[1-phosphatidylinositol-3-phosphate 5-kinase activity] GO:0004674[protein serine/threonine kinase activity] GO:0005515[protein binding] GO:0005524[ATP binding] GO:0005768[endosome] GO:0006612[protein targeting to membrane] GO:0006629[lipid metabolic process] GO:0006661[phosphatidylinositol biosynthetic process] GO:0010008[endosome membrane] GO:0012506[vesicle membrane] GO:0016020[membrane] GO:0016301[kinase activity] GO:0016307[phosphatidylinositol phosphate kinase activity] GO:0016308[1-phosphatidylinositol-4-phosphate 5-kinase activity] GO:0016310[phosphorylation] GO:0016740[transferase 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:0031410[cytoplasmic vesicle] GO:0031901[early endosome membrane] GO:0031902[late endosome membrane] GO:0032438[melanosome organization] GO:0034504[protein localization to nucleus] GO:0035556[intracellular signal transduction] GO:0036092[phosphatidylinositol-3-phosphate biosynthetic process] GO:0036289[peptidyl-serine autophosphorylation] GO:0042147[retrograde transport, endosome to Golgi] GO:0043813[phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity] GO:0045121[membrane raft] GO:0046488[phosphatidylinositol metabolic process] GO:0046854[phosphatidylinositol phosphate biosynthetic process] GO:0046872[metal ion binding] GO:0052810[1-phosphatidylinositol-5-kinase activity] GO:0090382[phagosome maturation] GO:0090385[phagosome-lysosome fusion] GO:0106310[protein serine 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]
Enzymes ENZYME proteins Transferases Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Potential drug targets Human disease related genes Nervous system diseases Eye disease Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000139[Golgi membrane] GO:0000166[nucleotide binding] GO:0000285[1-phosphatidylinositol-3-phosphate 5-kinase activity] GO:0004674[protein serine/threonine kinase activity] GO:0005515[protein binding] GO:0005524[ATP binding] GO:0005768[endosome] GO:0006612[protein targeting to membrane] GO:0006629[lipid metabolic process] GO:0006661[phosphatidylinositol biosynthetic process] GO:0010008[endosome membrane] GO:0012506[vesicle membrane] GO:0016020[membrane] GO:0016301[kinase activity] GO:0016307[phosphatidylinositol phosphate kinase activity] GO:0016308[1-phosphatidylinositol-4-phosphate 5-kinase activity] GO:0016310[phosphorylation] GO:0016740[transferase 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:0031410[cytoplasmic vesicle] GO:0031901[early endosome membrane] GO:0031902[late endosome membrane] GO:0032438[melanosome organization] GO:0034504[protein localization to nucleus] GO:0035556[intracellular signal transduction] GO:0036092[phosphatidylinositol-3-phosphate biosynthetic process] GO:0036289[peptidyl-serine autophosphorylation] GO:0042147[retrograde transport, endosome to Golgi] GO:0043813[phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity] GO:0045121[membrane raft] GO:0046488[phosphatidylinositol metabolic process] GO:0046854[phosphatidylinositol phosphate biosynthetic process] GO:0046872[metal ion binding] GO:0052810[1-phosphatidylinositol-5-kinase activity] GO:0090382[phagosome maturation] GO:0090385[phagosome-lysosome fusion] GO:0106310[protein serine 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]
Enzymes ENZYME proteins Transferases Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Potential drug targets Human disease related genes Nervous system diseases Eye disease Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000139[Golgi membrane] GO:0000166[nucleotide binding] GO:0000285[1-phosphatidylinositol-3-phosphate 5-kinase activity] GO:0004674[protein serine/threonine kinase activity] GO:0005515[protein binding] GO:0005524[ATP binding] GO:0005768[endosome] GO:0006612[protein targeting to membrane] GO:0006629[lipid metabolic process] GO:0006661[phosphatidylinositol biosynthetic process] GO:0010008[endosome membrane] GO:0012506[vesicle membrane] GO:0016020[membrane] GO:0016301[kinase activity] GO:0016307[phosphatidylinositol phosphate kinase activity] GO:0016308[1-phosphatidylinositol-4-phosphate 5-kinase activity] GO:0016310[phosphorylation] GO:0016740[transferase 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:0031410[cytoplasmic vesicle] GO:0031901[early endosome membrane] GO:0031902[late endosome membrane] GO:0032438[melanosome organization] GO:0034504[protein localization to nucleus] GO:0035556[intracellular signal transduction] GO:0036092[phosphatidylinositol-3-phosphate biosynthetic process] GO:0036289[peptidyl-serine autophosphorylation] GO:0042147[retrograde transport, endosome to Golgi] GO:0043813[phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity] GO:0045121[membrane raft] GO:0046488[phosphatidylinositol metabolic process] GO:0046854[phosphatidylinositol phosphate biosynthetic process] GO:0046872[metal ion binding] GO:0052810[1-phosphatidylinositol-5-kinase activity] GO:0090382[phagosome maturation] GO:0090385[phagosome-lysosome fusion] GO:0106310[protein serine 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]
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Eye disease Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000285[1-phosphatidylinositol-3-phosphate 5-kinase activity] GO:0046854[phosphatidylinositol phosphate biosynthetic process] GO:0046872[metal ion binding]
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Eye disease Protein evidence (Ezkurdia et al 2014)
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