VPS37A
VPS37A subunit of ESCRT-I
Gene Information Card
| Symbol | VPS37A |
|---|---|
| Full Name | VPS37A subunit of ESCRT-I |
| Gene Type | protein-coding |
| Chromosomal Location | 8p22 |
| NCBI Gene ID | 137492 ncbi.nlm.nih.gov/gene/137492 |
| Ensembl ID | ENSG00000156097 |
| UniProt ID | Q8NEZ2 |
| OMIM ID | 609927 |
| HGNC ID | 24995 |
| Aliases | HCRTR1, VPS37A |
Description
VPS37A encodes a component of the endosomal sorting complex required for transport I (ESCRT-I), which is essential for sorting ubiquitinated membrane proteins into multivesicular bodies for lysosomal degradation. The protein interacts with other ESCRT-I subunits (TSG101, VPS28, VPS37B/C/D) and is involved in cytokinesis, retroviral budding, and autophagy. Mutations in VPS37A have been linked to neurodegenerative disorders and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hereditary spastic paraplegia 53 (SPG53) | Loss-of-function mutations impair ESCRT-I function, leading to defective endosomal trafficking and axonal degeneration. | OMIM #614898; ClinVar |
| Hepatocellular carcinoma | Reduced VPS37A expression correlates with poor prognosis; may promote tumor growth via altered EGFR trafficking. | COSMIC; PubMed studies |
| Breast cancer | Somatic mutations and copy number loss observed; potential tumor suppressor role. | COSMIC; TCGA |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.3 | Medium |
| Liver | 8.7 | Low |
| Testis | 15.2 | Medium |
| Kidney | 9.1 | Low |
| Lung | 6.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.5 | High expression |
| HeLa | 11.2 | Moderate expression |
| HepG2 | 9.8 | Moderate expression |
| SH-SY5Y | 16.1 | High expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.325C>T (p.Arg109*) | Nonsense | <0.01% | Loss of function; associated with SPG53 |
| c.497_498delAG (p.Glu166Valfs*12) | Frameshift | <0.01% | Loss of function; associated with SPG53 |
| c.1A>G (p.Met1?) | Start loss | <0.01% | Loss of function; likely pathogenic |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and start-loss mutations cause loss of ESCRT-I function, leading to endosomal trafficking defects and neurodegeneration.
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 |
| • cytokinesis | • autophagy |
Pathways
• ESCRT-I complex (Reactome: R-HSA-917729)
• Endosomal sorting (KEGG: hsa04144)
• Autophagy (KEGG: hsa04140)
Protein Summary
VPS37A is a 397-amino-acid protein that forms part of the ESCRT-I complex. It contains a conserved N-terminal domain required for interaction with TSG101 and VPS28. The protein localizes to endosomal membranes and is critical for the sorting of ubiquitinated cargo into intraluminal vesicles. VPS37A also participates in cytokinesis by mediating abscission and in the budding of enveloped viruses such as HIV-1.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| VPS37A Knockout HEK293 Cell Line | EDJ-KQ2794 | Human | 137492 | Details Get a Quote |
| VPS37A Knockout A-549 Cell Line | EDJ-KQ25112 | Human | 137492 | Details Get a Quote |
| VPS37A Knockout HCT 116 Cell Line | EDJ-KQ25113 | Human | 137492 | Details Get a Quote |
| VPS37A Knockout HeLa Cell Line | EDJ-KQ18325 | Human | 137492 | Details Get a Quote |
