VPS37D
VPS37D subunit of ESCRT-I complex
Gene Information Card
| Symbol | VPS37D |
|---|---|
| Full Name | VPS37D subunit of ESCRT-I |
| Gene Type | protein-coding |
| Chromosomal Location | 7q11.23 |
| NCBI Gene ID | 155382 ncbi.nlm.nih.gov/gene/155382 |
| Ensembl ID | ENSG00000176428 |
| UniProt ID | Q86XT2 |
| OMIM ID | 610903 |
| HGNC ID | 26097 |
| Aliases | HCRP1, MDSRP1, hVps37D |
Description
VPS37D encodes a component of the endosomal sorting complex required for transport I (ESCRT-I), which is involved in the sorting of ubiquitinated membrane proteins into multivesicular bodies for lysosomal degradation. This gene plays a role in receptor downregulation and cytokine receptor signaling.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hepatocellular carcinoma | Reduced expression may impair ESCRT-I function, affecting growth factor receptor degradation | PMID: 19074807 |
| Breast cancer | Altered expression linked to poor prognosis via dysregulated endosomal trafficking | PMID: 21725308 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 5.2 | Low |
| Kidney | 4.8 | Low |
| Testis | 3.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 6.0 | Hepatocellular carcinoma cell line |
| MCF7 | 4.5 | Breast cancer cell line |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | missense | <0.01% | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
Not well characterized; reduced expression may lead to impaired ESCRT-I function.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data:
Gene Ontology (GO)
| • protein transport | • endosomal transport |
| • ESCRT-I complex | • cytoplasm |
| • protein binding |
Pathways
• ESCRT-I complex assembly
• Endosomal sorting pathway
Protein Summary
VPS37D is a 285-amino acid protein that forms part of the ESCRT-I complex, essential for sorting ubiquitinated cargo into multivesicular bodies. It localizes to endosomal membranes and interacts with other ESCRT components.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| VPS37D Knockout HEK293 Cell Line | EDJ-KQ15331 | Human | 155382 | Details Get a Quote |
| VPS37D Knockout A-549 Cell Line | EDJ-KQ47281 | Human | 155382 | Details Get a Quote |
| VPS37D Knockout HCT 116 Cell Line | EDJ-KQ47283 | Human | 155382 | Details Get a Quote |
| VPS37D Knockout HeLa Cell Line | EDJ-KQ58756 | Human | 155382 | Details Get a Quote |