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UNC93B1 unc-93 homolog B1, TLR signaling regulator [ Homo sapiens (human) ]

Gene ID: 81622, updated on 11-Sep-2019

Summary

Official Symbol
UNC93B1provided by HGNC
Official Full Name
unc-93 homolog B1, TLR signaling regulatorprovided by HGNC
Primary source
HGNC:HGNC:13481
See related
Ensembl:ENSG00000110057 MIM:608204
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
IIAE1; UNC93; UNC93B; Unc-93B1
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]
Expression
Broad expression in spleen (RPKM 27.3), lung (RPKM 14.0) and 24 other tissues See more
Orthologs

Genomic context

See UNC93B1 in Genome Data Viewer
Location:
11q13.2
Exon count:
11
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (67991100..68004097, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (67758575..67771593, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC112268076 Neighboring gene 40S ribosomal protein S24 pseudogene Neighboring gene olfactory receptor family 7 subfamily E member 1 pseudogene Neighboring gene aldehyde dehydrogenase 3 family member B1 Neighboring gene Sharpr-MPRA regulatory region 5992 Neighboring gene NADH:ubiquinone oxidoreductase core subunit S8

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from BioSystems

  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • Innate Immune System, organism-specific biosystem (from REACTOME)
    Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
  • Toll-Like Receptors Cascades, organism-specific biosystem (from REACTOME)
    Toll-Like Receptors Cascades, organism-specific biosystemIn human, ten members of the Toll-like receptor (TLR) family (TLR1-TLR10) have been identified (TLR11 has been found in mouse, but not in human). All TLRs have a similar Toll/IL-1 receptor (TIR) doma...
  • Trafficking and processing of endosomal TLR, organism-specific biosystem (from REACTOME)
    Trafficking and processing of endosomal TLR, organism-specific biosystemMammalian TLR3, TLR7, TLR8, TLR9 are endosomal receptors that sense nucleic acids that have been released from endocytosed/phagocytosed bacteria, viruses or parasites. These TLRs have a ligand-recogn...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC126617

Gene Ontology Provided by GOA

Function Evidence Code Pubs
Toll-like receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
adaptive immune response IEA
Inferred from Electronic Annotation
more info
 
defense response to virus IEA
Inferred from Electronic Annotation
more info
 
innate immune response IEA
Inferred from Electronic Annotation
more info
 
intracellular protein transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
intracellular protein transport ISS
Inferred from Sequence or Structural Similarity
more info
 
toll-like receptor 3 signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
toll-like receptor 3 signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
toll-like receptor 7 signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
toll-like receptor 7 signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
toll-like receptor 9 signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
toll-like receptor 9 signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
toll-like receptor signaling pathway TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
Golgi membrane TAS
Traceable Author Statement
more info
 
early phagosome ISS
Inferred from Sequence or Structural Similarity
more info
 
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
endosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endosome IDA
Inferred from Direct Assay
more info
PubMed 
endosome ISS
Inferred from Sequence or Structural Similarity
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
lysosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
lysosome ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
protein unc-93 homolog B1
Names
unc-93 homolog B1
unc-93 related protein
unc93 homolog B1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_007581.1 RefSeqGene

    Range
    4999..18024
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_123

mRNA and Protein(s)

  1. NM_030930.4NP_112192.2  protein unc-93 homolog B1

    See identical proteins and their annotated locations for NP_112192.2

    Status: REVIEWED

    Source sequence(s)
    BC092472, BM969922, HY081711
    Consensus CDS
    CCDS73334.1
    UniProtKB/Swiss-Prot
    Q9H1C4
    Related
    ENSP00000227471.3, ENST00000227471.7

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    67991100..68004097 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011545291.2XP_011543593.1  protein unc-93 homolog B1 isoform X2

  2. XM_011545290.1XP_011543592.1  protein unc-93 homolog B1 isoform X1

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