DERL1 Gene Summary [Human]
The protein encoded by this gene is a member of the derlin family. Members of this family participate in the ER-associated degradation response and retrotranslocate misfolded or unfolded proteins from the ER lumen to the cytosol for proteasomal degradation. This protein recognizes substrate in the ER and works in a complex to retrotranslocate it across the ER membrane into the cytosol. This protein may select cystic fibrosis transmembrane conductance regulator protein (CFTR) for degradation as well as unfolded proteins in Alzheimer's disease. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Aug 2012]
Details
| Type | Protein Coding |
| Official Symbol | DERL1 |
| Official Name | derlin 1 [Source:HGNC Symbol;Acc:HGNC:28454] |
| Ensembl ID | ENSG00000136986 |
| Bio databases IDs | |
| Aliases | derlin 1 |
| Synonyms | 1110021N07Rik, DER-1, Der1-like domain family, member 1, Derlin-1, RGD1311835 |
| 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 DERL1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- ubiquitin protein ligase binding
- ATPase binding
- MHC class I protein binding
- signal recognition particle binding
- binding protein
- protease binding
- cytoplasmic domain
- protein binding
- identical 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
- growth failure
role in cell
- expression in
- endoplasmic reticulum stress response
- transport in
- processing in
- binding in
- biogenesis 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
- cellular membrane
- Endoplasmic Reticulum
- endoplasmic reticulum membrane
- microsome
- early endosomes
- late endosomes
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human DERL1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- establishment of protein localization
- protein destabilization
- proteasomal ubiquitin-dependent protein catabolic process
- endoplasmic reticulum unfolded protein response
- positive regulation of protein ubiquitination
- retrograde protein transport, ER to cytosol
- response to unfolded protein
- cellular response to misfolded protein
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- early endosome
- membrane
- late endosome
- endoplasmic reticulum quality control compartment
- endoplasmic reticulum
Molecular Function
What the gene product does at the molecular level
- identical protein binding
- protein binding
- ubiquitin protein ligase binding
- signaling receptor activity
- protease binding
- MHC class I protein binding
- signal recognition particle binding
- ATPase binding