RHBDF1 Gene Summary [Human]
Predicted to enable growth factor binding activity and serine-type endopeptidase activity. Involved in several processes, including negative regulation of protein secretion; regulation of epidermal growth factor receptor signaling pathway; and regulation of proteasomal protein catabolic process. Located in Golgi membrane and endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Apr 2022]
Details
| Type | Protein Coding |
| Official Symbol | RHBDF1 |
| Official Name | rhomboid 5 homolog 1 [Source:HGNC Symbol;Acc:HGNC:20561] |
| Ensembl ID | ENSG00000007384 |
| Bio databases IDs | |
| Aliases | rhomboid 5 homolog 1 |
| Synonyms | C16ORF8, Dist, Dist1, EGFR-RS, hDist1, iRhom1, mKIAA4242, rhomboid 5 homolog 1 |
| 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 RHBDF1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- protein binding
- Rhomboid family
- Rhomboid serine protease
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- breast cancer
- neoplasia
- organismal death
- cerebral hemorrhage
- hypoplasia
- eyelids open at birth
- weight loss
- weight gain
- ataxia
- mammary neoplasm
role in cell
- proliferation
- number
- degradation in
- shedding in
- lack
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
- cell surface
- endoplasmic reticulum membrane
- Golgi membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human RHBDF1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cell proliferation
- regulation of proteasomal protein catabolic process
- regulation of protein secretion
- negative regulation of protein secretion
- protein transport
- regulation of epidermal growth factor receptor signaling pathway
- cell migration
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- Golgi membrane
Molecular Function
What the gene product does at the molecular level
- growth factor binding
- protein binding
- serine-type endopeptidase activity