OTULIN Gene Summary [Human]
This gene encodes a member of the peptidase C65 family of ubiquitin isopeptidases. Members of this family remove ubiquitin from proteins. The encoded enzyme specifically recognizes and removes M1(Met1)-linked, or linear, ubiquitin chains from protein substrates. Linear ubiquitin chains are known to regulate the NF-kappa B signaling pathway in the context of immunity and inflammation. Mutations in this gene cause a potentially fatal autoinflammatory syndrome in human patients. [provided by RefSeq, Sep 2016]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | OTULIN |
| Official Name | OTU deubiquitinase with linear linkage specificity [Source:HGNC Symbol;Acc:HGNC:25118] |
| Ensembl ID | ENSG00000154124 |
| Bio databases IDs | |
| Aliases | OTU deubiquitinase with linear linkage specificity, gumby, ubiquitin thioesterase otulin |
| Synonyms | AIPDS, AIPDSA, FAM105B, GUM, IMD107, LOC285695, m3Sapc, m7-1Sapc, OTU deubiquitinase with linear linkage specificity |
| 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 OTULIN often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- cysteine-type peptidase
- Peptidase C65 Otubain
- peptidase
- ubiquitin-specific protease
- Peptidase family C101
- protein binding
- OTU-like cysteine protease
- OTU (ovarian tumor) domain family
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- non-insulin-dependent diabetes mellitus
- diabetes mellitus
- autoinflammation, panniculitis, and dermatosis syndrome
- allergic rhinitis
- immunodeficiency 107 with susceptibility to invasive Staphylococcus aureus infection
- dermatitis
role in cell
- signaling in
- Met1 linked ubiquitination in
- ubiquitination in
- interaction 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
- cytosol
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human OTULIN gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- nucleotide-binding oligomerization domain containing 2 signaling pathway
- negative regulation of NF-kappaB transcription factor activity
- innate immune response
- negative regulation of inflammatory response
- regulation of canonical Wnt receptor signaling pathway
- regulation of tumor necrosis factor-mediated signaling pathway
- proteolysis
- sprouting angiogenesis
- Wnt receptor signaling pathway
- protein ubiquitination
Cellular Component
Where in the cell the gene product is active
- cytoplasm
- cytosol
- LUBAC complex
Molecular Function
What the gene product does at the molecular level
- ubiquitin-specific protease activity
- protein binding
- cysteine-type peptidase activity