VAC14

Phosphatidylinositol 3,5-bisphosphate (PI(3,5)P2) is a low-abundance signaling molecule. A regulatory complex made up of VAC14 and FIG4 (MIM 609390) control synthesis of PI(3,5)P2 by activating PI(3)P kinase, FAB1 (PIP5K3; MIM 609414). The VAC14/FIG4 complex also functions in the breakdown of PI(3,5)P2 (Zhang et al., 2007 [PubMed 17956977]).[supplied by OMIM

Full Name

Vac14 homolog (S. cerevisiae)

Function

Scaffold protein component of the PI(3,5)P2 regulatory complex which regulates both the synthesis and turnover of phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2). Pentamerizes into a star-shaped structure and nucleates the assembly of the complex. The pentamer binds a single copy each of PIKFYVE and FIG4 and coordinates both PIKfyve kinase activity and FIG4 phosphatase activity, being required to maintain normal levels of phosphatidylinositol 3-phosphate (PtdIns3P) and phosphatidylinositol 5-phosphate (PtdIns5P) (PubMed:33098764).
Plays a role in the biogenesis of endosome carrier vesicles (ECV) / multivesicular bodies (MVB) transport intermediates from early endosomes.

Biological Process

Biological Process phosphatidylinositol biosynthetic process Source:GO_Central1 Publication
Biological Process positive regulation of kinase activity Source:GO_Central1 Publication
Biological Process regulation of postsynaptic neurotransmitter receptor internalization Source:Ensembl
Biological Process signal transduction Source:UniProtKB1 Publication

Cellular Location

Endosome membrane
Microsome membrane
Mainly associated with membranes of the late endocytic pathway.

Involvement in disease

Striatonigral degeneration, childhood-onset (SNDC):
An autosomal recessive neurological disorder characterized by sudden childhood onset of developmental regression. Affected children develop impaired movements with dystonia, progressively become non-ambulatory and non-verbal, and exhibit striatal abnormalities on MRI.