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.

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 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
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