VPS51

Chr 11q13.1

VPS51 subunit of GARP complex

Aliases:: ANG2, ANG3, FFR
MANE:: ENST00000279281.8

OMIM: 615738 ↗NCBI: 738 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

VPS51 · Q9UID3

v62025-08-01

Predicted Aligned Error matrix for VPS51 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

80.4/ 100

Confident

782 residues

Confidence breakdown

Very high(≥ 90)40%
Confident(70–90)41%
Low(50–70)7%
Very low(< 50)11%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Severe microcephaly
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

pontocerebellar hypoplasia type 13
0.62
neurodegenerative disease
0.53
maple syrup urine disease
0.06
Crigler-Najjar syndrome type 2
0.05
neonatal intrahepatic cholestasis due to citrin deficiency
0.05
maple syrup urine disease, mild variant
0.05
Hypertryptophanemia
0.05
sarcosinemia
0.05
schizophrenia
0.04
Methylmalonic aciduria due to transcobalamin receptor defect
0.04

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

Protein function (UniProt)

Vacuolar protein sorting-associated protein 51 homolog

Acts as a component of the GARP complex that is involved in retrograde transport from early and late endosomes to the trans-Golgi network (TGN). The GARP complex is required for the maintenance of protein retrieval from endosomes to the TGN, acid hydrolase sorting, lysosome function, endosomal cholesterol traffic and autophagy. VPS51 participates in retrograde transport of acid hydrolase receptors, likely by promoting tethering and SNARE-dependent fusion of endosome-derived carriers to the TGN (PubMed:20685960). Acts as a component of the EARP complex that is involved in endocytic recycling. The EARP complex associates with Rab4-positive endosomes and promotes recycling of internalized transferrin receptor (TFRC) to the plasma membrane (PubMed:25799061)