VPS37C
VPS37C subunit of ESCRT-I
Gene Information Card
| Symbol | VPS37C |
|---|---|
| Full Name | VPS37C subunit of ESCRT-I |
| Gene Type | protein-coding |
| Chromosomal Location | 11q12.2 |
| NCBI Gene ID | 55048 ncbi.nlm.nih.gov/gene/55048 |
| Ensembl ID | ENSG00000167996 |
| UniProt ID | Q5VZK9 |
| OMIM ID | 610903 |
| HGNC ID | 26097 |
| Aliases | HCRP1, hVps37C |
Description
VPS37C encodes a component of the endosomal sorting complex required for transport I (ESCRT-I), which is essential for multivesicular body (MVB) formation, sorting of ubiquitinated membrane proteins into intraluminal vesicles, and HIV-1 budding. The protein interacts with TSG101 and other ESCRT-I subunits. Reduced expression has been implicated in hepatocellular carcinoma and other cancers, suggesting a potential tumor suppressor role.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hepatocellular carcinoma | Downregulation of VPS37C impairs ESCRT-I function, leading to altered receptor trafficking and increased cell proliferation. | PMID: 21362510 |
| HIV-1 infection | VPS37C is part of the ESCRT-I complex hijacked by HIV-1 Gag for viral budding. | PMID: 12879062 |
| Breast cancer | Low VPS37C expression correlates with poor prognosis and metastasis. | PMID: 22426471 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 8.2 | Medium |
| Testis | 6.5 | Medium |
| Lung | 4.1 | Low |
| Brain | 2.3 | Low |
| Kidney | 5.0 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 7.8 | Hepatocellular carcinoma cell line |
| HEK293 | 6.0 | Embryonic kidney cells |
| MCF7 | 4.5 | Breast cancer cell line |
| HeLa | 5.2 | Cervical cancer cells |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | <0.01% | Likely loss of start codon, predicted loss of function |
| c.325C>T (p.Arg109Trp) | missense | <0.01% | Unknown significance |
| c.682G>A (p.Glu228Lys) | missense | <0.01% | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in VPS37C are rare but may impair ESCRT-I assembly and endosomal sorting, potentially contributing to tumorigenesis.
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)
| • endosomal transport | • protein transport |
| • multivesicular body assembly | • viral budding |
| • protein ubiquitination |
Pathways
• ESCRT-I complex
• Endosomal sorting
• HIV life cycle
Protein Summary
VPS37C is a 285-amino acid protein that forms part of the ESCRT-I complex, which mediates the sorting of ubiquitinated membrane proteins into intraluminal vesicles of multivesicular bodies. It interacts directly with TSG101 and VPS28. The protein is localized to endosomes and plays a role in receptor downregulation, cytokinesis, and HIV-1 budding. Reduced expression is observed in several cancers, suggesting a tumor-suppressive function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| VPS37C Knockout HEK293 Cell Line | EDJ-KQ16110 | Human | 55048 | Details Get a Quote |
| VPS37C Knockout A-549 Cell Line | EDJ-KQ47278 | Human | 55048 | Details Get a Quote |
| VPS37C Knockout HCT 116 Cell Line | EDJ-KQ47279 | Human | 55048 | Details Get a Quote |
| VPS37C Knockout HeLa Cell Line | EDJ-KQ47280 | Human | 55048 | Details Get a Quote |