VPS16

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 Vps16 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. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq]

vacuolar protein sorting 16 homolog (S. cerevisiae)

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 recruitment of VPS33A to the HOPS complex (PubMed:23901104).
Required for fusion of endosomes and autophagosomes with lysosomes; the function is dependent on its association with VPS33A but not VPS33B (PubMed:25783203).
The function in autophagosome-lysosome fusion implicates STX17 but not UVRAG (PubMed:24554770).

Biological Process autophagosome maturation Source:UniProtKB1 Publication
Biological Process endosomal transport Source:GO_Central1 Publication
Biological Process endosomal vesicle fusion Source:ComplexPortal2 Publications
Biological Process endosome to lysosome transport Source:UniProtKB1 Publication
Biological Process intracellular protein transport Source:InterPro
Biological Process regulation of SNARE complex assembly Source:ComplexPortal2 Publications
Biological Process vacuole fusion, non-autophagic Source:GO_Central1 Publication

Late endosome membrane
Lysosome membrane
Early endosome
Cytoplasmic vesicle, clathrin-coated vesicle
Cytoplasmic vesicle, autophagosome
Colocalizes with AP-3, clathrin, Rab5 and Rab7b (By similarity).
Cytoplasmic, peripheral membrane protein associated with early endosomes and late endosomes/lysosomes.

Dystonia 30 (DYT30):
A form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT30 is characterized by early onset and predominantly cervical, bulbar, orofacial, and upper limb involvement. Some patients have a more complex phenotype with neurocognitive impairment, including mild intellectual disability or psychiatric manifestations. Loss of ambulation is observed in some cases. DYT30 inheritance is autosomal dominant with incomplete penetrance.