catalog number :
MBS9332364
products type :
ELISA Kit
products full name :
Human Protein unc-93 homolog B1, UNC93B1 ELISA Kit
products short name :
unc-93 homolog B1 (C. elegans)
products name syn :
Human Protein unc-93 homolog B1 (UNC93B1) ELISA kit; MGC126617; UNC93; UNC93B; unc-93 homolog B1; unc-93 related protein; unc93 homolog B; unc93 homolog B1; unc-93 homolog B1 (C. elegans)
other names :
protein unc-93 homolog B1; Protein unc-93 homolog B1; protein unc-93 homolog B1; unc93 homolog B1; unc-93 related protein; unc-93 homolog B1 (C. elegans)
products gene name :
UNC93B1
other gene names :
UNC93B1; UNC93B1; IIAE1; UNC93; UNC93B; Unc-93B1; UNC93; UNC93B; Unc-93B1; hUNC93B1
uniprot entry name :
UN93B_HUMAN
storage stability :
Store all reagents at 2-8 degree C
ncbi acc num :
NP_112192.2
ncbi gb acc num :
NM_030930.3
ncbi mol weight :
66,631 Da
ncbi pathways :
Immune System Pathway (106386); Innate Immune System Pathway (106387); Toll Receptor Cascades Pathway (106388); Trafficking And Processing Of Endosomal TLR Pathway (576253)
ncbi summary :
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]
uniprot summary :
UNC93B1: 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. Defects in UNC93B1 are associated with herpes simplex encephalitis type 1 (HSE1). 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. 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. Belongs to the unc-93 family. Protein type: Cell surface; Membrane protein, multi-pass; Membrane protein, integral. Chromosomal Location of Human Ortholog: 11q13. Cellular Component: Golgi membrane; endoplasmic reticulum membrane; endoplasmic reticulum; lysosome; integral to membrane; endosome. Biological Process: intracellular protein transport; toll-like receptor signaling pathway; antigen processing and presentation of exogenous peptide antigen via MHC class II; innate immune response; toll-like receptor 3 signaling pathway; toll-like receptor 9 signaling pathway; toll-like receptor 7 signaling pathway; defense response to virus. Disease: Herpes Simplex Encephalitis, Susceptibility To, 1