background:
UNC93B is a protein with similarity to the C. elegans unc93 protein. The Unc93 protein is involved in the regulation or coordination of muscle contraction in the worm. Defects in UNC93B are associated with susceptibility to herpes simplex encephalitis (HSE) which is a rare complication of human herpesvirus 1 (HHSLV1) infection.
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).
Subcellular Location:
Membrane; Multi pass membrane protein.
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.
Post-translational modifications:
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 (HHSLV1) infection, occurring in only a small minority of HHSLV1 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.
Database links:
UniProtKB/Swiss-Prot: Q9H1C4.2
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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