ID:UN93B_HUMAN DESCRIPTION: RecName: Full=Protein unc-93 homolog B1; Short=Unc-93B1; Short=hUNC93B1; FUNCTION: Plays an important role in innate and adaptive immunity by regulating nucleotide-sensing Toll-like receptor (TLR) signaling. Required for the transport of a subset of TLRs (including TLR3, TLR7 and TLR9) from the endoplasmic reticulum to endolysosomes where they can engage pathogen nucleotides and activate signaling cascades. May play a role in autoreactive B- cells removal. SUBUNIT: Interacts with TLR3, TLR7, and TLR9 (probably via transmembrane domain) (By similarity). SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Multi-pass membrane protein (By similarity). Endosome (By similarity). Lysosome (By similarity). Cytoplasmic vesicle, phagosome (By similarity). Note=Relocalizes from endoplasmic reticulum to endosome and lysosome upon cell-stimulation with CpG dinucleotides (By similarity). Colocalizes with LAMP5 in large endosomal intracellular vesicles. TISSUE SPECIFICITY: Expressed in plasmocytoid dendritic cells (at protein level). Highly expressed in antigen-presenting cells. Expressed in heart, and at lower level in kidney. Expressed at low level in other tissues. INDUCTION: Up-regulated by TLRs agonists. PTM: N-glycosylated (By similarity). DISEASE: Defects in UNC93B1 are associated with herpes simplex encephalitis type 1 (HSE1) [MIM:610551]. HSE is a rare complication of human herpesvirus 1 (HHV-1) infection, occurring in only a small minority of HHV-1 infected individuals. HSE is characterized by hemorrhagic necrosis of parts of the temporal and frontal lobes. Onset is over several days and involves fever, headache, seizures, stupor, and often coma, frequently with a fatal outcome. Note=Mutations in UNC93B1 resulting in autosomal recessive UNC93B1 deficieny predispose otherwise healthy individuals to isolated herpes simplex encephalitis due to impaired IFNs production. UNC93B1 deficieny, however, does not compromise immunity to most pathogens, unlike most known primary immunodeficiencies. SIMILARITY: Belongs to the unc-93 family. SEQUENCE CAUTION: Sequence=AAD15416.1; Type=Erroneous gene model prediction; WEB RESOURCE: Name=UNC93B1base; Note=UNC93B1 mutation db; URL="http://bioinf.uta.fi/UNC93B1base/";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Pfam Domains: PF05978 - Ion channel regulatory protein UNC-93
SCOP Domains: 103473 - MFS general substrate transporter
ModBase Predicted Comparative 3D Structure on Q9H1C4
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
