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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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VPS33A
VPS33A core subunit of CORVET and HOPS complexes
Chromosome 12 · 12q24.31
NCBI Gene: 65082Ensembl: ENSG00000139719.12HGNC: HGNC:18179UniProt: F5H6Y0
88PubMed Papers
21Diseases
0Drugs
1Pathogenic Variants
FUNCTIONAL ROLE
Transporter
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
vesicle-mediated transportAP-3 adaptor complexclathrin complexmolecular adaptor activitymucopolysaccharidosis-plus syndromeneurodegenerative diseaseCOVID-19Abruptio Placentae
✦AI Summary

VPS33A is a core Sec1/Munc18 family protein of the CORVET and HOPS multi-subunit tethering complexes 1 that mediates vesicle fusion in endocytic and autophagic pathways 2. VPS33A functions in fusion of endosomes and autophagosomes with lysosomes through its recruitment to HOPS via VPS16 interaction, a mechanism essential for lysosomal trafficking 2. The protein acts as a Rab5 and Rab7 effector in early and late endosomal maturation, facilitating SNARE-mediated membrane fusion during endosome-to-lysosome conversion 3. Mutations in VPS33A cause mucopolysaccharidosis-plus syndrome (MPSPS), an autosomal recessive lysosomal storage disorder characterized by GAG accumulation without lysosomal enzyme deficiency 4. The pathogenic p.R498W mutation destabilizes VPS33A protein, leading to proteasomal degradation and reduced HOPS/CORVET complex abundance 5. This results in lysosomal over-acidification, impaired glycosphingolipid trafficking, and abnormal endosomal/lysosomal morphology 5. MPSPS presents with MPS-like features plus atypical manifestations including cardiac defects, renal dysfunction, and hematopoietic disorders, with most infantile cases fatal by 20 months 6. Proteasome inhibitors and glucosylceramide synthesis inhibitors partially correct trafficking defects in patient cells, suggesting therapeutic approaches 57.

Sources cited
1
VPS33A is a Sec1/Munc18 family member and core HOPS subunit recruited by Vps16
PMID: 23901104
2
VPS33A recruitment to HOPS via VPS16 is necessary for lysosome fusion with endosomes and autophagosomes
PMID: 25783203
3
VPS33A is a distinct component of CORVET and HOPS complexes with specific interacting partners
PMID: 29778605
4
VPS33A p.R498W mutation causes MPSPS with GAG accumulation, lysosomal dysfunction, and cardiac/renal/hematopoietic involvement
PMID: 28013294
5
VPS33A mutation causes protein destabilization, reduced complex abundance, and impaired glycosphingolipid trafficking
PMID: 31070736
6
MPSPS caused by VPS33A mutation is a severe multisystem disorder with poor prognosis and no specific therapy
PMID: 31936524
7
VPS33A mutations can cause juvenile and infantile forms of mucopolysaccharidosis plus with variable severity and proteasome inhibitor responsiveness
PMID: 36153662
Disease Associationsⓘ21
mucopolysaccharidosis-plus syndromeOpen Targets
0.73Strong
neurodegenerative diseaseOpen Targets
0.50Moderate
COVID-19Open Targets
0.37Weak
Abruptio PlacentaeOpen Targets
0.23Weak
X-linked intellectual disability-retinitis pigmentosa syndromeOpen Targets
0.07Suggestive
Griscelli diseaseOpen Targets
0.07Suggestive
Griscelli disease type 3Open Targets
0.06Suggestive
Griscelli syndrome type 3Open Targets
0.06Suggestive
Hermansky-Pudlak syndromeOpen Targets
0.06Suggestive
Tietz syndromeOpen Targets
0.06Suggestive
Blackfan-Diamond anemiaOpen Targets
0.06Suggestive
Familial ocular anterior segment mesenchymal dysgenesisOpen Targets
0.06Suggestive
Glanzmann thrombasthenia 1Open Targets
0.06Suggestive
Persistent pupillary membraneOpen Targets
0.05Suggestive
oculocutaneous albinism type 3Open Targets
0.05Suggestive
Hermansky-Pudlak syndrome without pulmonary fibrosisOpen Targets
0.05Suggestive
dominant beta-thalassemiaOpen Targets
0.05Suggestive
Absent tibia - polydactylyOpen Targets
0.05Suggestive
tibia, hypoplasia or aplasia of, with polydactylyOpen Targets
0.05Suggestive
beta-thalassemia-X-linked thrombocytopenia syndromeOpen Targets
0.05Suggestive
Mucopolysaccharidosis-plus syndromeUniProt
Pathogenic Variants1
NM_022916.6(VPS33A):c.1492C>T (p.Arg498Trp)Likely pathogenic
Mucopolysaccharidosis-plus syndrome
★☆☆☆2023→ Residue 498
View on ClinVar ↗
Related Genes
UVRAGProtein interaction100%RAB9AProtein interaction100%VPS45Protein interaction100%RAB9BProtein interaction100%CCZ1Protein interaction100%CCZ1BProtein interaction94%
Tissue Expression6 tissues
Brain
100%
Liver
71%
Ovary
58%
Heart
57%
Lung
52%
Bone Marrow
33%
Gene Interaction Network
Click a node to explore
VPS33AUVRAGRAB9AVPS45RAB9BCCZ1CCZ1B
PROTEIN STRUCTURE
Preparing viewer…
PDB4BX8 · 2.40 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.58Moderately Constrained
pLIⓘ
0.08Tolerant
Observed/Expected LoF0.43 [0.32–0.58]
RankingsWhere VPS33A stands among ~20K protein-coding genes
  • #5,455of 20,598
    Most Researched88
  • #4,931of 5,498
    Most Pathogenic Variants1
  • #3,911of 17,882
    Most Constrained (LOEUF)0.58 · top quartile
Genes detectedVPS33A
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Mucopolysaccharidosis-Plus Syndrome.
PMID: 31936524
Int J Mol Sci · 2020
1.00
2
Proteomic and Biochemical Comparison of the Cellular Interaction Partners of Human VPS33A and VPS33B.
PMID: 29778605
J Mol Biol · 2018
0.90
3
The lysosomal disease caused by mutant VPS33A.
PMID: 31070736
Hum Mol Genet · 2019
0.80
4
Mutation in VPS33A affects metabolism of glycosaminoglycans: a new type of mucopolysaccharidosis with severe systemic symptoms.
PMID: 28013294
Hum Mol Genet · 2017
0.70
5
Structural basis of Vps33A recruitment to the human HOPS complex by Vps16.
PMID: 23901104
Proc Natl Acad Sci U S A · 2013
0.60