VPS33B
VPS33B core component of CORVET and HOPS complexes
Gene Information Card
| Symbol | VPS33B |
|---|---|
| Full Name | VPS33B core subunit of CORVET and HOPS complexes |
| Gene Type | protein-coding |
| Chromosomal Location | 15q26.1 |
| NCBI Gene ID | 26276 ncbi.nlm.nih.gov/gene/26276 |
| Ensembl ID | ENSG00000184056 |
| UniProt ID | Q9H267 |
| OMIM ID | 608552 |
| HGNC ID | 13412 |
| Aliases | VPS33B, ARC syndrome, VPS33B1 |
Description
VPS33B encodes a protein that is a core component of the class C VPS (vacuolar protein sorting) complexes CORVET and HOPS, which mediate tethering and fusion of endosomal and lysosomal vesicles. Mutations in VPS33B cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome, a multisystem disorder affecting liver, kidney, and joints.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome | Loss-of-function mutations impair endosomal trafficking, leading to defective bile acid transport, renal tubular dysfunction, and joint contractures. | OMIM #208085; ClinVar |
| Cholestasis, progressive familial intrahepatic 1 (PFIC1) | VPS33B dysfunction disrupts bile salt export pump (BSEP) localization, contributing to cholestasis. | PubMed; OMIM |
| Renal tubular acidosis | Impaired endosomal recycling in kidney proximal tubules causes acidosis. | OMIM; ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 10.2 | Medium |
| Pancreas | 8.1 | Low |
| Brain | 6.4 | Low |
| Heart | 5.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 14.1 | Hepatocyte line |
| HEK293 | 9.8 | Embryonic kidney |
| HeLa | 7.2 | Cervical carcinoma |
| K562 | 4.5 | Leukemia |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.208C>T (p.Arg70*) | Nonsense | <0.1% | Loss of function; associated with ARC syndrome |
| c.325G>A (p.Gly109Arg) | Missense | <0.1% | Impaired protein stability; ARC syndrome |
| c.1A>G (p.Met1?) | Start loss | <0.1% | No protein production; ARC syndrome |
Mutation functional classification
Loss of Function (LOF)
Most VPS33B mutations are loss-of-function, leading to ARC syndrome.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • endosome to lysosome transport | • protein transport |
| • endosomal transport | • vesicle docking |
| • intralumenal vesicle formation |
Pathways
• CORVET complex
• HOPS complex
• Endosomal trafficking
• Lysosomal degradation
Protein Summary
VPS33B is a 617-amino acid protein that belongs to the Sec1/Munc18 family. It forms part of the CORVET and HOPS tethering complexes, which regulate SNARE-mediated membrane fusion at endosomes and lysosomes. The protein is essential for proper endosomal sorting and lysosomal biogenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| VPS33B Knockout HEK293 Cell Line | EDJ-KQ8499 | Human | 26276 | Details Get a Quote |
| VPS33B Knockout A-549 Cell Line | EDJ-KQ34622 | Human | 26276 | Details Get a Quote |
| VPS33B Knockout HCT 116 Cell Line | EDJ-KQ34623 | Human | 26276 | Details Get a Quote |
| VPS33B Knockout HeLa Cell Line | EDJ-KQ34624 | Human | 26276 | Details Get a Quote |
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