UFD1 Gene Summary [Human]
The protein encoded by this gene forms a complex with two other proteins, nuclear protein localization-4 and valosin-containing protein, and this complex is necessary for the degradation of ubiquitinated proteins. In addition, this complex controls the disassembly of the mitotic spindle and the formation of a closed nuclear envelope after mitosis. Mutations in this gene have been associated with Catch 22 syndrome as well as cardiac and craniofacial defects. Alternative splicing results in multiple transcript variants encoding different isoforms. A related pseudogene has been identified on chromosome 18. [provided by RefSeq, Jun 2009]
Details
| Type | Protein Coding |
| Official Symbol | UFD1 |
| Official Name | ubiquitin recognition factor in ER associated degradation 1 [Source:HGNC Symbol;Acc:HGNC:12520] |
| Ensembl ID | ENSG00000070010 |
| Bio databases IDs | |
| Aliases | ubiquitin recognition factor in ER associated degradation 1 |
| Synonyms | UBIQUITIN FUSION DEGRADATION, Ubiquitin fusion degradation protein 1, ubiquitin recognition factor in ER-associated degradation 1, UFD1L, UFD1P |
| 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 UFD1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- ATPase binding
- binding protein
- peptidase
- ubiquitin-specific protease
- protein binding
- receptor binding
- Ubiquitin fusion degradation protein UFD1
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- head and neck squamous cell carcinoma
- head and neck squamous cell cancer
role in cell
- expression in
- accumulation in
- degradation in
- replication in
- K11 polyubiquitination in
- K48 polyubiquitination in
- processing 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
- Nucleus
- cytosol
- nucleoplasm
- cytosolic fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human UFD1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of type I interferon production
- proteasomal ubiquitin-dependent protein catabolic process
- skeletal system development
- retrograde protein transport, ER to cytosol
- negative regulation of RIG-I signaling pathway
- cellular response to misfolded protein
- ubiquitin-dependent protein catabolic process
Cellular Component
Where in the cell the gene product is active
- nucleus
- Cdc48p-Npl4p-Ufd1p AAA ATPase complex
- cytosol
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- ubiquitin-specific protease activity
- protein binding
- polyubiquitin binding