VPS37A Gene Summary [Human]
This gene belongs to the VPS37 family, and encodes a component of the ESCRT-I (endosomal sorting complex required for transport I) protein complex, required for the sorting of ubiquitinated transmembrane proteins into internal vesicles of multivesicular bodies. Expression of this gene is downregulated in hepatocellular carcinoma, and mutations in this gene are associated with autosomal recessive spastic paraplegia-53. A related pseudogene has been identified on chromosome 5. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2012]
Details
| Type | Protein Coding |
| Official Symbol | VPS37A |
| Official Name | VPS37A subunit of ESCRT-I [Source:HGNC Symbol;Acc:HGNC:24928] |
| Ensembl ID | ENSG00000155975 |
| Bio databases IDs | |
| Aliases | VPS37A subunit of ESCRT-I, hepatocellular carcinoma related protein 1 |
| Synonyms | 2210018P21Rik, 4930592A21Rik, D8Ertd531e, FLJ32642, HCRP1, PQBP2, SPG53, vacuolar protein sorting 37A, VPS37A subunit of ESCRT-I |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human VPS37A often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Modifier of rudimentary (Mod(r)) protein
- protein binding
Pathways
Biological processes and signaling networks where the VPS37A gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- paralysis
- autosomal recessive spastic paraplegia type 53
role in cell
- migration
- invasion by
- phosphorylation in
- transcription in
- activation in
- cell death
- proliferation
- signaling in
- degradation in
- closure in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- intracellular membrane-bounded organelle
- centrosome
- cytosol
- endosomal membrane
- nucleoplasm
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human VPS37A gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- protein targeting to vacuole involved in ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway
- membrane fission
- ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway
- protein targeting to vacuole
- protein targeting to membrane
- macroautophagy
Cellular Component
Where in the cell the gene product is active
- late endosome membrane
- centrosome
- intracellular membrane-bounded organelle
- ESCRT I complex
- cytosol
- endosome membrane
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- protein binding