VPS11

Chr 11q23.3

VPS11 core subunit of CORVET and HOPS complexes

Aliases:: RNF108, PEP5
MANE:: ENST00000621676.5

OMIM: 608549 ↗NCBI: 55823 ↗Ensembl ↗

Annotations refreshed 11 hours ago.

Predicted protein structure

AlphaFold predicted structure

VPS11 · Q9H270

v62025-08-01

Predicted Aligned Error matrix for VPS11 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

78.6/ 100

Confident

941 residues

Confidence breakdown

Very high(≥ 90)20%
Confident(70–90)63%
Low(50–70)8%
Very low(< 50)8%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomal
Inherited white matter disorders
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomal
Early onset dystonia
BIALLELIC, autosomal or pseudoautosomal
COVID-19 research
Unknown

Disease associations (Open Targets)

hypomyelinating leukodystrophy 12
0.72
neurodegenerative disease
0.53
Hypomyelinating leukodystrophy with or without oligondontia and/or hypogonadism
0.53
dystonia 32
0.41
COVID-19
0.37
VPS11-related neurological disorder
0.37
Leukoencephalopathy
0.34
coronary artery disorder
0.31
type 2 diabetes mellitus
0.24
gallstones
0.21

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

Protein function (UniProt)

Vacuolar protein sorting-associated protein 11 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 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)