UNC93B1 (unc-93 homolog B1, TLR signaling regulator)

2015-03-01  

Identity

HGNC
LOCATION
11q13.2
LOCUSID
ALIAS
IIAE1,UNC93,UNC93B,Unc-93B1
FUSION GENES

Other Information

Locus ID:

NCBI: 81622
MIM: 608204
HGNC: 13481
Ensembl: ENSG00000110057

Variants:

dbSNP: 81622
ClinVar: 81622
TCGA: ENSG00000110057
COSMIC: UNC93B1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000110057ENST00000227471Q9H1C4
ENSG00000110057ENST00000524455E9PR93
ENSG00000110057ENST00000528423E9PNE5

Expression (GTEx)

0
50
100
150

Pathways

PathwaySourceExternal ID
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
Toll-Like Receptors CascadesREACTOMER-HSA-168898
Trafficking and processing of endosomal TLRREACTOMER-HSA-1679131

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
169738412006Herpes simplex virus encephalitis in human UNC-93B deficiency.235
190066932008IRAK-4- and MyD88-dependent pathways are essential for the removal of developing autoreactive B cells in humans.92
226111942012Cleavage of Toll-like receptor 3 by cathepsins B and H is essential for signaling.64
191204732009Regulatory molecules required for nucleotide-sensing Toll-like receptors.31
230021192012IgM+IgD+CD27+ B cells are markedly reduced in IRAK-4-, MyD88-, and TIRAP- but not UNC-93B-deficient patients.25
231663192013The role of UNC93B1 protein in surface localization of TLR3 receptor and in cell priming to nucleic acid agonists.25
221643012011UNC93B1 physically associates with human TLR8 and regulates TLR8-mediated signaling.24
191204812009Crosstalk between components of the innate immune system: promoting anti-microbial defenses and avoiding immunopathologies.22
251876602014Cutting edge: the UNC93B1 tyrosine-based motif regulates trafficking and TLR responses via separate mechanisms.12
264669552015LRRC59 Regulates Trafficking of Nucleic Acid-Sensing TLRs from the Endoplasmic Reticulum via Association with UNC93B1.9

Citation

Dessen P

UNC93B1 (unc-93 homolog B1, TLR signaling regulator)

Atlas Genet Cytogenet Oncol Haematol. 2015-03-01

Online version: http://atlasgeneticsoncology.org/gene/55645/unc93b1