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Protein

Protein VAC14 homolog

Gene

Vac14

Organism
Mus musculus (Mouse)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

The 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 (PtdIns3P) and phosphatidylinositol 5-phosphate (PtdIns5P). Plays a role in the biogenesis of endosome carrier vesicles (ECV) / multivesicular bodies (MVB) transport intermediates from early endosomes.2 Publications

GO - Molecular functioni

GO - Biological processi

  • phosphatidylinositol biosynthetic process Source: GO_Central
  • response to osmotic stress Source: MGI

Enzyme and pathway databases

ReactomeiR-MMU-1660514 Synthesis of PIPs at the Golgi membrane
R-MMU-1660516 Synthesis of PIPs at the early endosome membrane
R-MMU-1660517 Synthesis of PIPs at the late endosome membrane

Names & Taxonomyi

Protein namesi
Recommended name:
Protein VAC14 homolog
Gene namesi
Name:Vac14
Synonyms:D8Wsu151e
OrganismiMus musculus (Mouse)
Taxonomic identifieri10090 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaMyomorphaMuroideaMuridaeMurinaeMusMus
Proteomesi
  • UP000000589 Componenti: Chromosome 8

Organism-specific databases

MGIiMGI:2157980 Vac14

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Endoplasmic reticulum, Endosome, Membrane, Microsome

Pathology & Biotechi

Involvement in diseasei

Defects in Vac14 are the cause of the infantile gliosis phenotype (ingls). Mice exhibit reduced body size and diluted pigmentation that can be recognized as early as postnatal day 3 (P3). By P14, the mice exhibit a tremor and impaired motor function. Maximal survival of the mice is for 3 weeks. Small areas with the appearance of spongiform degeneration are visible in several brain regions, including the thalamus, brain stem and cerebellar nucleus.1 Publication

Disruption phenotypei

Mice die perinatally and exhibit profound degeneration in certain regions of the central and peripheral nervous systems. Selected regions in the brain are affected, especially the medulla, the pons and the midbrain and increased cell death occurs in these areas. Affected neurons contain large vacuoles.1 Publication

Keywords - Diseasei

Disease mutation, Neurodegeneration, Neuropathy

Chemistry databases

ChEMBLiCHEMBL2176841

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003004861 – 782Protein VAC14 homologAdd BLAST782

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei1N-acetylmethionineBy similarity1
Modified residuei11PhosphothreonineBy similarity1
Modified residuei499PhosphothreonineBy similarity1
Modified residuei517PhosphoserineBy similarity1
Modified residuei743PhosphoserineBy similarity1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiQ80WQ2
MaxQBiQ80WQ2
PaxDbiQ80WQ2
PeptideAtlasiQ80WQ2
PRIDEiQ80WQ2

PTM databases

iPTMnetiQ80WQ2
PhosphoSitePlusiQ80WQ2

Expressioni

Tissue specificityi

Ubiquitous.1 Publication