VPS16

Chr 20p13

VPS16 core subunit of CORVET and HOPS complexes

MANE:: ENST00000380445.8

OMIM: 608550 ↗NCBI: 64601 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

VPS16 · Q9H269

v62025-08-01

Predicted Aligned Error matrix for VPS16 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

91.3/ 100

Very high

839 residues

Confidence breakdown

Very high(≥ 90)72%
Confident(70–90)26%
Low(50–70)2%
Very low(< 50)1%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Adult onset dystonia, chorea or related movement disorder
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Childhood onset dystonia, chorea or related movement disorder
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomal
Lysosomal storage disorder
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

Dystonia
0.76
neurodegenerative disease
0.53
COVID-19
0.37
adolescent idiopathic scoliosis
0.24
hereditary disease
0.19
thyroid cancer
0.15
autism
0.12
Decreased total neutrophil count
0.11
neutropenia
0.11
Splenomegaly
0.11

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Vacuolar protein sorting-associated protein 16 homolog

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)