AlphaFold predicted structure
VPS33B · Q9H267
Mean pLDDT
91.4/ 100
Very high
617 residues
Confidence breakdown
- Very high(≥ 90)84%
- Confident(70–90)8%
- Low(50–70)2%
- Very low(< 50)5%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
VPS33B
Chr 15q26.1VPS33B late endosome and lysosome associated
- Aliases:
- FLJ14848
- MANE:
- ENST00000333371.8
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Arthrogryposis
BIALLELIC, autosomal or pseudoautosomalBleeding and platelet disorders
BIALLELIC, autosomal or pseudoautosomalCholestasis
BIALLELIC, autosomal or pseudoautosomalDDG2P
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalInherited bleeding disorders
BIALLELIC, autosomal or pseudoautosomalLikely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalNeonatal cholestasis
BIALLELIC, autosomal or pseudoautosomal
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Disease associations (Open Targets)
arthrogryposis, renal dysfunction, and cholestasis 1
0.82Arthrogryposis - renal dysfunction - cholestasis
0.79cholestasis, progressive familial intrahepatic, 12
0.68arthrogryposis-renal dysfunction-cholestasis syndrome
0.63keratoderma-ichthyosis-deafness syndrome, autosomal recessive
0.59hereditary disease
0.48arthrogryposis
0.47congenital anomaly of kidney and urinary tract
0.46type 2 diabetes mellitus
0.38COVID-19
0.38
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Vacuolar protein sorting-associated protein 33B
May play a role in vesicle-mediated protein trafficking to lysosomal compartments and in membrane docking/fusion reactions of late endosomes/lysosomes. Required for proper trafficking and targeting of the collagen-modifying enzyme lysyl hydroxylase 3 (LH3) to intracellular collagen (PubMed:28017832). Mediates phagolysosomal fusion in macrophages (PubMed:18474358). Proposed to be involved in endosomal maturation implicating VIPAS39. In epithelial cells, the VPS33B:VIPAS39 complex may play a role in the apical recycling pathway and in the maintenance of the apical-basolateral polarity (PubMed:20190753). Seems to be involved in the sorting of specific cargos from the trans-Golgi network to alpha-granule-destined multivesicular bodies (MVBs) promoting MVBs maturation in megakaryocytes (By similarity)
Diseases associated with VPS33B
Curated MONDO disease pages that list VPS33B among their top associated genes.