RHBDD1 Gene Summary [Human]
Enables serine-type endopeptidase activity. Involved in several processes, including cellular response to unfolded protein; membrane protein proteolysis; and positive regulation of protein catabolic process. Located in endoplasmic reticulum. [provided by Alliance of Genome Resources, Apr 2022]
Details
| Type | Protein Coding |
| Official Symbol | RHBDD1 |
| Official Name | rhomboid domain containing 1 [Source:HGNC Symbol;Acc:HGNC:23081] |
| Ensembl ID | ENSG00000144468 |
| Bio databases IDs | |
| Aliases | rhomboid domain containing 1 |
| Synonyms | 4930418P06Rik, mRHBDD1, RGD1306477, RHBDL4, rhomboid domain containing 1, rRHBDD1, RRP4 |
| 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 RHBDD1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- endopeptidase
- serine endopeptidase
- peptidase
- protein binding
- Rhomboid family
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- respiratory tract infectious disorder
- idiopathic pulmonary fibrosis
- weight loss
- Kawasaki disease
- silicosis
- microscopic hematuria
role in cell
- molecular cleavage in
- apoptosis
- differentiation
- expression in
- binding in
- abnormal morphology
- reorganization in
- generation in
- reorganization
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Extracellular Space
- cytoskeleton
- Endoplasmic Reticulum
- endoplasmic reticulum membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human RHBDD1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- membrane protein intracellular domain proteolysis
- negative regulation of apoptotic process
- apoptotic process
- cellular response to UV
- spermatid differentiation
- cellular response to unfolded protein
- positive regulation of protein processing
- regulation of male germ cell proliferation
- post-translational protein modification
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- mitochondrial membrane
- endoplasmic reticulum quality control compartment
- endoplasmic reticulum
Molecular Function
What the gene product does at the molecular level
- protein binding
- serine-type endopeptidase activity