MGP Database

MGP005470

UniProt Annotations

Entry Information
Gene NameVac14 homolog (S. cerevisiae)
Protein EntryVAC14_HUMAN
UniProt IDQ08AM6
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q08AM6-1; Sequence=Displayed; Name=2; IsoId=Q08AM6-2; Sequence=VSP_056097; Note=No experimental confirmation available.;
DomainThe C-terminal domain (residues 523-782) mediates homomeric interactions and is necessary for the formation and maintenance of the PI(3,5)P2 regulatory complex. {ECO:0000269|PubMed:18950639}.
FunctionThe PI(3,5)P2 regulatory complex regulates both the synthesis and turnover of phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2). Acts as a positive activator of PIKfyve kinase activity. Also required to maintain normal levels of phosphatidylinositol 3-phosphate (PtdIns(3)P) and phosphatidylinositol 5-phosphate (PtdIns(5)P). Plays a role in the biogenesis of endosome carrier vesicles (ECV) / multivesicular bodies (MVB) transport intermediates from early endosomes. {ECO:0000269|PubMed:15542851, ECO:0000269|PubMed:17556371}.
InteractionP29475:NOS1; NbExp=5; IntAct=EBI-2107455, EBI-7164065;
Sequence CautionSequence=AAB03813.1; Type=Miscellaneous discrepancy; Note=Unknown C-terminal region.; Evidence={ECO:0000305}; Sequence=BAB15145.1; Type=Erroneous initiation; Evidence={ECO:0000305};
SimilarityBelongs to the VAC14 family. {ECO:0000305}.
SimilarityContains 6 HEAT repeats. {ECO:0000305}.
Subcellular LocationEndosome membrane {ECO:0000269|PubMed:15542851, ECO:0000269|PubMed:17556371}. Microsome membrane {ECO:0000250}. Note=Mainly associated with membranes of the late endocytic pathway.
SubunitForms homooligomers. Component 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. Interacts with NOS1. Interacts with HTLV-1 Tax. {ECO:0000269|PubMed:17161399, ECO:0000269|PubMed:17556371, ECO:0000269|PubMed:18950639, ECO:0000269|PubMed:8611628}.
Tissue SpecificityUbiquitously expressed. {ECO:0000269|PubMed:8611628}.
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