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.

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 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
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