MGP Database

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MGP006751

UniProt Annotations

Entry Information
Gene Namephosphoinositide kinase, FYVE finger containing
Protein EntryFYV1_HUMAN
UniProt IDQ9Y2I7
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q9Y2I7-1; Sequence=Displayed; Name=2; IsoId=Q9Y2I7-2; Sequence=VSP_040108, VSP_040110, VSP_040111; Note=No experimental confirmation available.; Name=3; IsoId=Q9Y2I7-3; Sequence=VSP_040109, VSP_040110, VSP_040111; Note=No experimental confirmation available.; Name=4; IsoId=Q9Y2I7-4; Sequence=VSP_040110, VSP_040111; Note=No experimental confirmation available.;
Catalytic ActivityATP + 1-phosphatidyl-1D-myo-inositol 3- phosphate = ADP + 1-phosphatidyl-1D-myo-inositol 3,5-bisphosphate.
DiseaseCorneal dystrophy, fleck (CFD) [MIM:121850]: 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. {ECO:0000269|PubMed:15902656}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionThe 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. {ECO:0000269|PubMed:17556371}.
PtmPhosphorylated in response to insulin at Ser-318 in a protein kinase B (PKB)-dependent manner. {ECO:0000269|PubMed:18669648, ECO:0000269|PubMed:18691976, ECO:0000269|PubMed:19369195, ECO:0000269|PubMed:20513353}.
Sequence CautionSequence=BAC03674.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};
SimilarityContains 1 DEP domain. {ECO:0000255|PROSITE- ProRule:PRU00066}.
SimilarityContains 1 FYVE-type zinc finger. {ECO:0000255|PROSITE-ProRule:PRU00091}.
SimilarityContains 1 PIPK domain. {ECO:0000255|PROSITE- ProRule:PRU00781}.
Subcellular LocationEndosome membrane {ECO:0000269|PubMed:11706043, ECO:0000269|PubMed:17556371}. Note=Mainly associated with membranes of the late endocytic pathway.
SubunitComponent of the PI(3,5)P2 regulatory complex/PAS complex, at least composed of PIKFYVE, FIG4 and VAC14. VAC14 nucleates the assembly of the complex and serves as a scaffold. {ECO:0000269|PubMed:17556371, ECO:0000269|PubMed:18950639}.
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