VPS11
Vesicle mediated protein sorting plays an important role in segregation of intracellular molecules into distinct organelles. Genetic studies in yeast have identified more than 40 vacuolar protein sorting (VPS) genes involved in vesicle transport to vacuoles. This gene encodes the human homolog of yeast class C Vps11 protein. The mammalian class C Vps proteins are predominantly associated with late endosomes/lysosomes, and like their yeast counterparts, may mediate vesicle trafficking steps in the endosome/lysosome pathway. [provided by RefSeq]
Full Name
vacuolar protein sorting 11 homolog (S. cerevisiae)
Function
Plays a role in vesicle-mediated protein trafficking to lysosomal compartments including the endocytic membrane transport and autophagic pathways. Believed to act as a core component of the putative HOPS and CORVET endosomal tethering complexes which are proposed to be involved in the Rab5-to-Rab7 endosome conversion probably implicating MON1A/B, and via binding SNAREs and SNARE complexes to mediate tethering and docking events during SNARE-mediated membrane fusion. The HOPS complex is proposed to be recruited to Rab7 on the late endosomal membrane and to regulate late endocytic, phagocytic and autophagic traffic towards lysosomes. The CORVET complex is proposed to function as a Rab5 effector to mediate early endosome fusion probably in specific endosome subpopulations (PubMed:11382755, PubMed:23351085, PubMed:24554770, PubMed:25266290, PubMed:25783203).
Required for fusion of endosomes and autophagosomes with lysosomes (PubMed:25783203).
Involved in cargo transport from early to late endosomes and required for the transition from early to late endosomes (PubMed:21148287).
Involved in the retrograde Shiga toxin transport (PubMed:23593995).
Biological Process
Biological Process autophagy Source:UniProtKB-KW
Biological Process endosomal vesicle fusion Source:UniProtKB1 Publication
Biological Process endosome organization Source:GO_Central1 Publication
Biological Process endosome to lysosome transport Source:UniProtKB1 Publication
Biological Process intracellular protein transport Source:InterPro
Biological Process negative regulation of intracellular estrogen receptor signaling pathway Source:FlyBase1 Publication
Biological Process organelle fusion Source:GO_Central1 Publication
Biological Process positive regulation of early endosome to late endosome transport Source:UniProtKB1 Publication
Biological Process positive regulation of protein catabolic process Source:UniProtKB1 Publication
Biological Process positive regulation of protein targeting to mitochondrion Source:ParkinsonsUK-UCL1 Publication
Biological Process protein ubiquitination Source:FlyBase1 Publication
Biological Process regulation of organelle assembly Source:UniProtKB1 Publication
Biological Process regulation of protein stability Source:ParkinsonsUK-UCL1 Publication
Biological Process regulation of SNARE complex assembly Source:ComplexPortal2 Publications
Biological Process vacuole organization Source:GO_Central1 Publication
Biological Process vesicle docking involved in exocytosis Source:GO_Central1 Publication
Cellular Location
Endosome
Late endosome membrane
Lysosome membrane
Early endosome
Cytoplasmic vesicle
Cytoplasmic vesicle, autophagosome
Cytoplasmic vesicle, clathrin-coated vesicle
Involvement in disease
Leukodystrophy, hypomyelinating, 12 (HLD12):
An autosomal recessive neurologic disorder characterized by developmental delay, spasticity, truncal hypotonia, acquired microcephaly, intellectual disability with variable seizure disorder, accompanied by thin corpus callosum, paucity of white matter and delayed myelination.
Dystonia 32 (DYT32):
A form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT32 is an autosomal recessive, slowly progressive form with onset in adulthood and generalized involvement of the limbs, trunk, neck, and larynx, resulting in dysarthria and dysphagia. Brain imaging may show abnormalities in the basal ganglia.