SEL1L Gene Summary [Human]
The protein encoded by this gene is part of a protein complex required for the retrotranslocation or dislocation of misfolded proteins from the endoplasmic reticulum lumen to the cytosol, where they are degraded by the proteasome in a ubiquitin-dependent manner. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
Details
| Type | Protein Coding |
| Official Symbol | SEL1L |
| Official Name | SEL1L adaptor subunit of ERAD E3 ubiquitin ligase [Source:HGNC Symbol;Acc:HGNC:10717] |
| Ensembl ID | ENSG00000071537 |
| Bio databases IDs | |
| Aliases | SEL1L adaptor subunit of ERAD E3 ubiquitin ligase, sel-1 suppressor of lin-12-like 1 (C. elegans) |
| Synonyms | ERAD, Hrd3, mKIAA4137, PRO1063, SEL1, SEL1H, SEL1L1, SEL1L adaptor subunit of SYVN1 ubiquitin ligase, SEL1-LIKE, sel-1 suppressor of lin-12-like (C. elegans) |
| 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 SEL1L often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Sel1-like repeats
- protein binding
- Sel1 repeat
- FN2
- tetratricopeptide repeat
Pathways
Biological processes and signaling networks where the SEL1L 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
- dextran sodium sulfate-induced colitis
- impaired glucose tolerance
- hyperglycemia
- prostate cancer
- thrombocytopenia
- anemia
- microcephaly
- hypotonia
- development delay, intellectual disability and dysmorphic facial features
- infection by Influenza A virus subtype H1N1
role in cell
- survival
- cell viability
- apoptosis
- accumulation in
- expression in
- proliferation
- G1 phase
- activation in
- growth
- invasion
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
- Extracellular Space
- cell periphery
- cellular membrane
- Golgi Apparatus
- Endoplasmic Reticulum
- intercellular junctions
- endoplasmic reticulum membrane
- Golgi stacks
- nuclear envelope
- early endosomes
- late endosomes
- cytoplasmic vesicles
- peripheral vesicles
- multivesicular bodies
- peroxisomes
- anchoring junction
- tight junctions
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SEL1L gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- Notch signaling pathway
- triglyceride metabolic process
- retrograde protein transport, ER to cytosol
- protein stabilization
- protein secretion
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- Hrd1p ubiquitin ligase ERAD-L complex
- Hrd1p ubiquitin ligase complex
- endoplasmic reticulum
Molecular Function
What the gene product does at the molecular level
- protein binding