| 1313818 | PIKFYVE | phosphoinositide kinase, FYVE-type zinc finger containing | 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 o f 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] | 2 | 208266056 | 208358746 | Human | 168 | symbol , old_gene_name , COSMIC , description , Human Proteome Map | gene, protein-coding, REVIEWED [RefSeq] |
| 1313819 | Pikfyve | phosphoinositide kinase, FYVE type zinc finger containing | Enables phosphatidylinositol kinase activity; protein serine/threonine kinase activity; and zinc ion binding activity. Involved in several processes, including neutrophil chemotaxis; phosphatidylinositol metabolic process; and vesicle organization. Acts upstream of or within myelin assembly. Located in several cellular components, including cell-cell junction; perinuclear region of cytoplasm; and vesicle membrane. Is expressed in several structures, including brain; genitourinary system; integumental system; limb; and skeleton. Used to study Crohn's disease. Human ortholog(s) of this gene implicated in Fleck corneal dystrophy. Orthologous to human PIKFYVE (phosphoinositide kinase, FYVE-type zinc finger containing). [provided by Alliance of Genome Resources, Jul 2025] | 1 | 65225796 | 65317855 | Mouse | 252 | symbol , old_gene_name , PhenoGen , description | gene, protein-coding, VALIDATED [RefSeq] |
| 1592067 | Pikfyve | phosphoinositide kinase, FYVE-type zinc finger containing | ENCODES a protein that exhibits 1-phosphatidylinositol-3-phosphate 5-kinase activity (ortholog); 1-phosphatidylinositol-4-phosphate 5-kinase activity (ortholog); 1-phosphatidylinositol-5-kinase activity (ortholog); INVOLVED IN 1-phosphatidyl-1D-myo-inositol 3,5-bisphosphate metabolic process (orthol og); antigen processing and presentation of exogenous peptide antigen via MHC class II (ortholog); intracellular signal transduction (ortholog); PARTICIPATES IN inositol metabolic pathway; phosphoinositide metabolic pathway; inositol phosphate metabolic pathway; ASSOCIATED WITH Crohn's disease (ortholog); Fleck corneal dystrophy (ortholog); genetic disease (ortholog); FOUND IN cell-cell junction (ortholog); cytoplasmic vesicle (ortholog); cytosol (ortholog); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 6-propyl-2-thiouracil; amphetamine | 9 | 74057488 | 74151610 | Rat | 170 | symbol , PhenoGen | gene, protein-coding, VALIDATED [RefSeq] |
| 8798180 | Pikfyve | phosphoinositide kinase, FYVE-type zinc finger containing | ENCODES a protein that exhibits 1-phosphatidylinositol-3-phosphate 5-kinase activity (ortholog); 1-phosphatidylinositol-4-phosphate 5-kinase activity (ortholog); 1-phosphatidylinositol-5-kinase activity (ortholog); INVOLVED IN 1-phosphatidyl-1D-myo-inositol 3,5-bisphosphate metabolic process (orthol og); antigen processing and presentation of exogenous peptide antigen via MHC class II (ortholog); intracellular signal transduction (ortholog); PARTICIPATES IN inositol metabolic pathway; phosphoinositide metabolic pathway; ASSOCIATED WITH Crohn's disease (ortholog); Fleck corneal dystrophy (ortholog); genetic disease (ortholog); FOUND IN cell-cell junction (ortholog); cytoplasmic vesicle (ortholog); cytosol (ortholog) | NW_004955457 | 6749226 | 6841855 | Chinchilla | 52 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 11876921 | PIKFYVE | phosphoinositide kinase, FYVE-type zinc finger containing | ENCODES a protein that exhibits protein serine/threonine kinase activity (ortholog); INVOLVED IN myelin assembly (ortholog); neutrophil degranulation (ortholog); peptidyl-serine autophosphorylation (ortholog); PARTICIPATES IN inositol metabolic pathway; phosphoinositide metabolic pathway; ASSOCIATED WITH Crohn's disease (ortholog); Fleck corneal dystrophy (ortholog); genetic disease (ortholog); FOUND IN cell-cell junction (ortholog); perinuclear region of cytoplasm (ortholog) | 2B | 95505376 | 95597792 | Bonobo | 80 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 12356225 | PIKFYVE | phosphoinositide kinase, FYVE-type zinc finger containing | ENCODES a protein that exhibits protein serine/threonine kinase activity (ortholog); INVOLVED IN myelin assembly (ortholog); neutrophil degranulation (ortholog); peptidyl-serine autophosphorylation (ortholog); PARTICIPATES IN inositol metabolic pathway; phosphoinositide metabolic pathway; ASSOCIATED WITH Crohn's disease (ortholog); Fleck corneal dystrophy (ortholog); genetic disease (ortholog); FOUND IN cell-cell junction (ortholog); perinuclear region of cytoplasm (ortholog); vesicle membrane (ortholog); INTERACTS WITH bisphenol A | 37 | 16537095 | 16620427 | Dog | 82 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 12680703 | Pikfyve | phosphoinositide kinase, FYVE-type zinc finger containing | ENCODES a protein that exhibits 1-phosphatidylinositol-4-phosphate 5-kinase activity (ortholog); protein serine/threonine kinase activity (ortholog); zinc ion binding (ortholog); INVOLVED IN myelin assembly (ortholog); neutrophil degranulation (ortholog); peptidyl-serine autophosphorylation (ortholo g); PARTICIPATES IN inositol metabolic pathway; phosphoinositide metabolic pathway; ASSOCIATED WITH Crohn's disease (ortholog); Fleck corneal dystrophy (ortholog); genetic disease (ortholog); FOUND IN cell-cell junction (ortholog); perinuclear region of cytoplasm (ortholog) | NW_004936950 | 242071 | 323204 | Squirrel | 64 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 14214724 | PIKFYVE | phosphoinositide kinase, FYVE-type zinc finger containing | ENCODES a protein that exhibits protein serine/threonine kinase activity (ortholog); INVOLVED IN myelin assembly (ortholog); neutrophil degranulation (ortholog); peptidyl-serine autophosphorylation (ortholog); PARTICIPATES IN inositol metabolic pathway; phosphoinositide metabolic pathway; ASSOCIATED WITH Crohn's disease (ortholog); Fleck corneal dystrophy (ortholog); genetic disease (ortholog); FOUND IN cell-cell junction (ortholog); perinuclear region of cytoplasm (ortholog); vesicle membrane (ortholog) | | | | Pig | 81 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 18571635 | PIKFYVE | phosphoinositide kinase, FYVE-type zinc finger containing | ENCODES a protein that exhibits protein serine/threonine kinase activity (ortholog); INVOLVED IN myelin assembly (ortholog); neutrophil degranulation (ortholog); peptidyl-serine autophosphorylation (ortholog); PARTICIPATES IN inositol metabolic pathway; phosphoinositide metabolic pathway; ASSOCIATED WITH Crohn's disease (ortholog); Fleck corneal dystrophy (ortholog); genetic disease (ortholog); FOUND IN cell-cell junction (ortholog); perinuclear region of cytoplasm (ortholog) | | | | Green Monkey | 81 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 18914664 | Pikfyve | phosphoinositide kinase, FYVE-type zinc finger containing | ENCODES a protein that exhibits protein serine/threonine kinase activity (ortholog); INVOLVED IN 1-phosphatidyl-1D-myo-inositol 3,5-bisphosphate metabolic process (ortholog); antigen processing and presentation of exogenous peptide antigen via MHC class II (ortholog); myelin assembly (ortholog); PAR TICIPATES IN inositol metabolic pathway; phosphoinositide metabolic pathway; ASSOCIATED WITH Crohn's disease (ortholog); Fleck corneal dystrophy (ortholog); genetic disease (ortholog); FOUND IN cell-cell junction (ortholog); cytosol (ortholog); endosome membrane (ortholog) | | | | Naked Mole-Rat | 74 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 155260081 | pikfyve | | | | | | Tropical Clawed Frog | | symbol | gene, null |
| 626035367 | Pikfyve | phosphoinositide kinase, FYVE-type zinc finger containing | ENCODES a protein that exhibits 1-phosphatidylinositol-3-phosphate 5-kinase activity (ortholog); 1-phosphatidylinositol-4-phosphate 5-kinase activity (ortholog); 1-phosphatidylinositol-5-kinase activity (ortholog); INVOLVED IN 1-phosphatidyl-1D-myo-inositol 3,5-bisphosphate metabolic process (orthol og); antigen processing and presentation of exogenous peptide antigen via MHC class II (ortholog); intracellular signal transduction (ortholog); PARTICIPATES IN inositol metabolic pathway; phosphoinositide metabolic pathway; ASSOCIATED WITH Crohn's disease (ortholog); Fleck corneal dystrophy (ortholog); genetic disease (ortholog); FOUND IN cell-cell junction (ortholog); cytoplasmic vesicle (ortholog); cytosol (ortholog) | | | | Black Rat | 52 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 405858352 | pikfyve.L | | | | | | African Clawed Frog | | symbol | gene, null |
| 405858515 | pikfyve.L | | | | | | African Clawed Frog | | symbol | gene, null |
| 405860536 | pikfyve.L | | | | | | African Clawed Frog | | symbol | gene, null |
| 405861053 | pikfyve.L | | | | | | African Clawed Frog | | symbol | gene, null |
| 626176961 | pikfyve.L | | | | | | African Clawed Frog | | symbol | gene, null |
| 626179986 | pikfyve.L | | | | | | African Clawed Frog | | symbol | gene, null |
| 631410 | Vac14 | VAC14 component of PIKFYVE complex | ENCODES a protein that exhibits identical protein binding (ortholog); INVOLVED IN 1-phosphatidyl-1D-myo-inositol 3,5-bisphosphate metabolic process (ortholog); regulation of postsynaptic neurotransmitter receptor internalization (ortholog); PARTICIPATES IN inositol metabolic pathway; phosphoinositid e metabolic pathway; ASSOCIATED WITH Desbuquois dysplasia (ortholog); genetic disease (ortholog); myoepithelioma (ortholog); FOUND IN endosome membrane (ortholog); presynaptic endosome (ortholog); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 2,3,7,8-Tetrachlorodibenzofuran; 2,6-dinitrotoluene | 19 | 55499962 | 55601290 | Rat | 98 | old_gene_name , name , ensembl_full_name | gene, protein-coding, VALIDATED [RefSeq] |
| 1347283 | VAC14 | VAC14 component of PIKFYVE complex | This gene encodes a scaffold protein that is a component of the PIKfyve protein kinase complex. This complex is responsible for the synthesis of phosphatidylinositol 3,5-bisphosphate, an important component of cellular membranes, from phosphatidylinositol 3-phosphate. Mice lacking a functional copy of this gene exhibit severe neurodegeneration. Mutations in the human gene have been identified in patients with a childhood onset progressive neurological disorder characterized by impaired movement, dystonia, and striatal abnormalities. [provided by RefSeq, May 2017] | 16 | 70687439 | 70801158 | Human | 275 | old_gene_name , name , description | gene, protein-coding, REVIEWED [RefSeq] |
| 8841362 | Vac14 | VAC14 component of PIKFYVE complex | ENCODES a protein that exhibits identical protein binding (ortholog); INVOLVED IN 1-phosphatidyl-1D-myo-inositol 3,5-bisphosphate metabolic process (ortholog); regulation of postsynaptic neurotransmitter receptor internalization (ortholog); PARTICIPATES IN inositol metabolic pathway; phosphoinositid e metabolic pathway; ASSOCIATED WITH Desbuquois dysplasia (ortholog); genetic disease (ortholog); myoepithelioma (ortholog); FOUND IN endosome membrane (ortholog); PAS complex (ortholog); presynaptic endosome (ortholog) | NW_004955484 | 3451187 | 3557471 | Chinchilla | 25 | old_gene_name , name | gene, protein-coding, MODEL [RefSeq] |
| 12044322 | VAC14 | VAC14 component of PIKFYVE complex | ENCODES a protein that exhibits identical protein binding (inferred); INVOLVED IN 1-phosphatidyl-1D-myo-inositol 3,5-bisphosphate metabolic process (inferred); phosphatidylinositol biosynthetic process (inferred); regulation of postsynaptic neurotransmitter receptor internalization (inferred); PARTI CIPATES IN inositol metabolic pathway; phosphoinositide metabolic pathway; ASSOCIATED WITH Desbuquois dysplasia (ortholog); genetic disease (ortholog); myoepithelioma (ortholog); FOUND IN endosome (inferred); endosome membrane (inferred); PAS complex (inferred) | 16 | 54216303 | 54330073 | Bonobo | 31 | old_gene_name , name | gene, protein-coding, MODEL [RefSeq] |
| 12184399 | VAC14 | VAC14 component of PIKFYVE complex | ENCODES a protein that exhibits identical protein binding (inferred); INVOLVED IN 1-phosphatidyl-1D-myo-inositol 3,5-bisphosphate metabolic process (inferred); phosphatidylinositol biosynthetic process (inferred); regulation of postsynaptic neurotransmitter receptor internalization (inferred); PARTI CIPATES IN inositol metabolic pathway; phosphoinositide metabolic pathway; ASSOCIATED WITH Desbuquois dysplasia (ortholog); genetic disease (ortholog); myoepithelioma (ortholog); FOUND IN endosome (inferred); endosome membrane (inferred); PAS complex (inferred) | 5 | 76635931 | 76737414 | Dog | 31 | old_gene_name , name | gene, protein-coding, MODEL [RefSeq] |
| 12567341 | Vac14 | VAC14 component of PIKFYVE complex | ENCODES a protein that exhibits identical protein binding (inferred); INVOLVED IN 1-phosphatidyl-1D-myo-inositol 3,5-bisphosphate metabolic process (inferred); phosphatidylinositol biosynthetic process (inferred); regulation of postsynaptic neurotransmitter receptor internalization (inferred); PARTI CIPATES IN inositol metabolic pathway; phosphoinositide metabolic pathway; ASSOCIATED WITH Desbuquois dysplasia (ortholog); genetic disease (ortholog); myoepithelioma (ortholog); FOUND IN endosome (inferred); endosome membrane (inferred); PAS complex (inferred) | NW_004936475 | 22842333 | 22944680 | Squirrel | 31 | old_gene_name , name | gene, protein-coding, MODEL [RefSeq] |
| 14263403 | VAC14 | VAC14 component of PIKFYVE complex | ENCODES a protein that exhibits identical protein binding (inferred); INVOLVED IN 1-phosphatidyl-1D-myo-inositol 3,5-bisphosphate metabolic process (inferred); phosphatidylinositol biosynthetic process (inferred); regulation of postsynaptic neurotransmitter receptor internalization (inferred); PARTI CIPATES IN inositol metabolic pathway; phosphoinositide metabolic pathway; ASSOCIATED WITH Desbuquois dysplasia (ortholog); genetic disease (ortholog); myoepithelioma (ortholog); FOUND IN endomembrane system (inferred); endosome (inferred); endosome membrane (inferred) | | | | Pig | 32 | old_gene_name , name | gene, protein-coding, MODEL [RefSeq] |
| 18486444 | VAC14 | VAC14 component of PIKFYVE complex | ENCODES a protein that exhibits identical protein binding (inferred); INVOLVED IN 1-phosphatidyl-1D-myo-inositol 3,5-bisphosphate metabolic process (inferred); phosphatidylinositol biosynthetic process (inferred); regulation of postsynaptic neurotransmitter receptor internalization (inferred); PARTI CIPATES IN inositol metabolic pathway; phosphoinositide metabolic pathway; ASSOCIATED WITH Desbuquois dysplasia (ortholog); genetic disease (ortholog); myoepithelioma (ortholog); FOUND IN endosome (inferred); endosome membrane (inferred); PAS complex (inferred) | | | | Green Monkey | 31 | old_gene_name , name | gene, protein-coding, MODEL [RefSeq] |
| 18908504 | Vac14 | VAC14 component of PIKFYVE complex | ENCODES a protein that exhibits identical protein binding (ortholog); INVOLVED IN 1-phosphatidyl-1D-myo-inositol 3,5-bisphosphate metabolic process (ortholog); regulation of postsynaptic neurotransmitter receptor internalization (ortholog); PARTICIPATES IN inositol metabolic pathway; phosphoinositid e metabolic pathway; ASSOCIATED WITH Desbuquois dysplasia (ortholog); genetic disease (ortholog); myoepithelioma (ortholog); FOUND IN presynaptic endosome (ortholog) | | | | Naked Mole-Rat | 30 | old_gene_name , name | gene, protein-coding, MODEL [RefSeq] |
| 625900719 | Vac14 | VAC14 component of PIKFYVE complex | ENCODES a protein that exhibits identical protein binding (ortholog); INVOLVED IN 1-phosphatidyl-1D-myo-inositol 3,5-bisphosphate metabolic process (ortholog); regulation of postsynaptic neurotransmitter receptor internalization (ortholog); PARTICIPATES IN inositol metabolic pathway; phosphoinositid e metabolic pathway; ASSOCIATED WITH Desbuquois dysplasia (ortholog); genetic disease (ortholog); myoepithelioma (ortholog); FOUND IN endosome membrane (ortholog); PAS complex (ortholog); presynaptic endosome (ortholog) | | | | Black Rat | 25 | name | gene, protein-coding, MODEL [RefSeq] |
| 16561521 | AL122126.1 | Vac14 homolog (S. cerevisiae) (VAC14) pseudogene | | 14 | 28857384 | 28858701 | Human | | old_gene_name | gene, pseudo, INFERRED [RefSeq] |
| 1551146 | Vac14 | Vac14 homolog (S. cerevisiae) | Predicted to enable identical protein binding activity and kinase activator activity. Involved in regulation of postsynaptic neurotransmitter receptor internalization. Is active in presynaptic endosome. Is expressed in cerebral cortex ventricular layer; cortical plate; embryo; and extraembryonic com ponent. Human ortholog(s) of this gene implicated in striatonigral degeneration. Orthologous to human VAC14 (VAC14 component of PIKFYVE complex). [provided by Alliance of Genome Resources, Jul 2025] | 8 | 111345161 | 111447030 | Mouse | 146 | description | gene, protein-coding, VALIDATED [RefSeq] |
