UNC93B1 Gene Summary [Human]
This gene encodes a protein that is involved in innate and adaptive immune response by regulating toll-like receptor signaling. The encoded protein traffics nucleotide sensing toll-like receptors to the endolysosome from the endoplasmic reticulum. Deficiency of the encoded protein has been associated with herpes simplex encephalitis. [provided by RefSeq, Feb 2014]
Details
| Type | Processed Transcript |
| Official Symbol | UNC93B1 |
| Official Name | unc-93 homolog B1, TLR signaling regulator [Source:HGNC Symbol;Acc:HGNC:13481] |
| Ensembl ID | ENSG00000110057 |
| Bio databases IDs | |
| Aliases | unc-93 homolog B1, TLR signaling regulator |
| Synonyms | IIAE1, UNC93, UNC93B, unc-93 homolog B1, TLR signaling regulator |
| 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 UNC93B1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Major Facilitator Superfamily
- protein binding
- receptor binding
- Ion channel regulatory protein UNC-93
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- chilblain lupus erythematosus
- HSV-1 encephalitis
- androgenic alopecia
- splenomegaly
- thrombocytopenia
- systemic lupus erythematosus
- encephalitis
- laser induced choroidal neovascularization
- dextran sodium sulfate-induced colitis
- herpes simplex encephalitis
role in cell
- expression in
- quantity
- activation in
- activation
- proliferation
- response
- frequency
- production in
- induction 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
- cellular membrane
- endosomes
- lysosome
- Endoplasmic Reticulum
- endoplasmic reticulum membrane
- Golgi membrane
- exosomes
- phagosomes
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human UNC93B1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- toll-like receptor 9 signaling pathway
- toll-like receptor 7 signaling pathway
- cell morphogenesis
- intracellular protein transport
- toll-like receptor signaling pathway
- positive regulation of interleukin-12 production
- T cell antigen processing and presentation
- innate immune response
- toll-like receptor 3 signaling pathway
- defense response to virus
- positive regulation of interleukin-6 production
- antigen processing and presentation of exogenous peptide antigen via MHC class II
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- early phagosome
- endosome
- Golgi membrane
- endoplasmic reticulum
- lysosome
Molecular Function
What the gene product does at the molecular level
- protein binding
- Toll-like receptor binding