InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: UNC93B1

Summary

InnateDB Protein

IDBP-61029.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

UNC93B1

Protein Name

unc-93 homolog B1 (C. elegans)

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000227471

InnateDB Gene

IDBG-61027 (UNC93B1)

Protein Structure

UniProt Annotation

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. {ECO:0000269PubMed:19006693}.

Subcellular Localization

Endoplasmic reticulum membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}. Endosome {ECO:0000250}. Lysosome {ECO:0000250}. Cytoplasmic vesicle, phagosome {ECO:0000250}. 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. {ECO:0000250, ECO:0000269PubMed:18082565, ECO:0000269PubMed:21642595}.

Disease Associations

Herpes simplex encephalitis 1 (HSE1) [MIM:610551]: 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. {ECO:0000269PubMed:16973841}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. 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.

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. {ECO:0000269PubMed:11867227, ECO:0000269PubMed:18082565, ECO:0000269PubMed:21642595}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 38 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.

Experimentally validated
Total	38 [view]
Protein-Protein	38 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	3 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding
GO:0035325	Toll-like receptor binding

Biological Process

GO:0002224	toll-like receptor signaling pathway
GO:0006886	intracellular protein transport
GO:0019886	antigen processing and presentation of exogenous peptide antigen via MHC class II
GO:0034138	toll-like receptor 3 signaling pathway
GO:0034154	toll-like receptor 7 signaling pathway
GO:0034162	toll-like receptor 9 signaling pathway
GO:0045087	innate immune response (InnateDB)
GO:0051607	defense response to virus

Cellular Component

GO:0000139	Golgi membrane
GO:0005764	lysosome
GO:0005768	endosome
GO:0005783	endoplasmic reticulum
GO:0005789	endoplasmic reticulum membrane
GO:0016021	integral component of membrane
GO:0032009	early phagosome