VBP1 Gene: VHL Binding Protein 1
Comprehensive genomic and functional analysis of VBP1, a prefoldin subunit involved in protein folding and VHL-mediated pathways.
Gene Information Card
| Symbol | VBP1 |
|---|---|
| Full Name | VHL binding protein 1 |
| Gene Type | protein-coding |
| Chromosomal Location | Xq28 |
| NCBI Gene ID | 7411 ncbi.nlm.nih.gov/gene/7411 |
| Ensembl ID | ENSG00000101986 |
| UniProt ID | P61758 |
| OMIM ID | 300133 |
| HGNC ID | 12671 |
| Aliases | PFDN3, HIBBJ46, prefoldin subunit 3 |
Description
VBP1 (VHL binding protein 1) encodes a member of the prefoldin alpha subunit family. The protein binds directly to the von Hippel-Lindau (VHL) tumor suppressor protein and is involved in the assembly of the prefoldin complex, which delivers unfolded proteins to cytosolic chaperonin (CCT) for proper folding. VBP1 is ubiquitously expressed and plays a role in cellular protein homeostasis and VHL-mediated pathways.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| von Hippel-Lindau disease (VHL) | VBP1 binds VHL protein; altered interaction may affect VHL tumor suppressor function | PMID: 8625410; NCBI GeneRIF |
| Clear cell renal cell carcinoma | VBP1 expression changes observed in VHL-deficient tumors | COSMIC; PMID: 23455423 |
| Hepatocellular carcinoma | Dysregulation of prefoldin subunits including VBP1 linked to tumor progression | PMID: 28411373 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 10.8 | Medium |
| Liver | 8.2 | Low |
| Kidney | 9.1 | Low |
| Testis | 15.3 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 14.2 | Embryonic kidney cells; high expression |
| HeLa | 11.7 | Cervical cancer cells; moderate expression |
| HepG2 | 9.8 | Hepatocellular carcinoma cells; moderate expression |
| A549 | 10.5 | Lung carcinoma cells; moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.287A>G (p.Asn96Ser) | missense | 0.02% (gnomAD) | Unknown functional impact; rare population variant |
| c.412C>T (p.Arg138Trp) | missense | 0.01% (gnomAD) | Predicted possibly damaging (PolyPhen-2) |
| c.523_524insA (p.Thr175AsnfsTer2) | frameshift insertion | Not reported in population databases | Likely loss of function; truncation |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense variants predicted to cause premature truncation, likely leading to loss of prefoldin complex assembly function.
Gain of Function (GOF)
No gain-of-function mutations currently documented for VBP1.
Dominant Negative (DN)
No dominant-negative mutations reported; potential if mutant subunit disrupts prefoldin complex integrity.
View complete mutation data：
Gene Ontology (GO)
| • protein folding (GO:0006457) | • protein binding (GO:0005515) |
| • prefoldin complex (GO:0016272) | • cytosol (GO:0005829) |
| • nucleus (GO:0005634) |
Pathways
• Prefoldin-mediated transfer of substrate to CCT/TriC (Reactome: R-HSA-389958)
• Cooperation of prefoldin and CCT in actin and tubulin folding (Reactome: R-HSA-389957)
Protein Summary
VBP1 (prefoldin subunit 3) is a 197-amino-acid protein (UniProt P61758) that forms part of the heterohexameric prefoldin complex. It contains a coiled-coil domain and interacts with the VHL protein via its C-terminal region. The prefoldin complex captures unfolded polypeptides and transfers them to the chaperonin CCT for ATP-dependent folding. VBP1 is widely expressed and essential for proper folding of cytoskeletal proteins like actin and tubulin.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| VBP1 Knockout HEK293 Cell Line | EDJ-KQ991 | Human | 7411 | Details Get a Quote |
| VBP1 Knockout A-549 Cell Line | EDJ-KQ20021 | Human | 7411 | Details Get a Quote |
| VBP1 Knockout HCT 116 Cell Line | EDJ-KQ20022 | Human | 7411 | Details Get a Quote |
| VBP1 Knockout HeLa Cell Line | EDJ-KQ20023 | Human | 7411 | Details Get a Quote |
