VPS33A

Chr 12q24.31

VPS33A core subunit of CORVET and HOPS complexes

MANE:: ENST00000267199.9

OMIM: 610034 ↗NCBI: 65082 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

VPS33A · Q96AX1

v62025-08-01

Predicted Aligned Error matrix for VPS33A — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

93.9/ 100

Very high

596 residues

Confidence breakdown

Very high(≥ 90)86%
Confident(70–90)10%
Low(50–70)3%
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)

Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomal
Lysosomal storage disorder
BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomal
COVID-19 research
Unknown

Disease associations (Open Targets)

mucopolysaccharidosis-plus syndrome
0.75
neurodegenerative disease
0.50
COVID-19
0.37
placental abruption
0.16
retinitis pigmentosa
0.10
posterior polymorphous corneal dystrophy
0.09
oculocutaneous albinism type 6
0.08
Familial ocular anterior segment mesenchymal dysgenesis
0.08
early-onset non-syndromic cataract
0.08
congenital glaucoma
0.08

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

Protein function (UniProt)

Vacuolar protein sorting-associated protein 33A

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:23351085, PubMed:24554770, PubMed:25266290, PubMed:25783203). Required for fusion of endosomes and autophagosomes with lysosomes; the function is dependent on its association with VPS16 but not VIPAS39 (PubMed:25783203). The function in autophagosome-lysosome fusion implicates STX17 but not UVRAG (PubMed:24554770)