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Aliases for UNC93B1 Gene

Aliases for UNC93B1 Gene

  • Unc-93 Homolog B1 (C. Elegans) 2 3
  • Unc-93B1 3 4
  • UNC93B 3 4
  • IIAE1 3 6
  • UNC93 3 4
  • Unc93 (C. Elegans) Homolog B1 2
  • Protein Unc-93 Homolog B1 3
  • Unc-93 Related Protein 3
  • Unc93 Homolog B1 3
  • HUNC93B1 4

External Ids for UNC93B1 Gene

Previous GeneCards Identifiers for UNC93B1 Gene

  • GC11M070281
  • GC11M069454
  • GC11M068008
  • GC11M067533
  • GC11M067515
  • GC11M067759
  • GC11M064093

Summaries for UNC93B1 Gene

Entrez Gene Summary for UNC93B1 Gene

  • 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]

GeneCards Summary for UNC93B1 Gene

UNC93B1 (Unc-93 Homolog B1 (C. Elegans)) is a Protein Coding gene. Diseases associated with UNC93B1 include herpes simplex encephalitis 1 and herpes simplex encephalitis. Among its related pathways are Trafficking and processing of endosomal TLR. An important paralog of this gene is UNC93A.

UniProtKB/Swiss-Prot for UNC93B1 Gene

  • 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.

Gene Wiki entry for UNC93B1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for UNC93B1 Gene

Genomics for UNC93B1 Gene

Regulatory Elements for UNC93B1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for UNC93B1 Gene

Start:
67,991,104 bp from pter
End:
68,004,982 bp from pter
Size:
13,879 bases
Orientation:
Minus strand

Genomic View for UNC93B1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for UNC93B1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for UNC93B1 Gene

Proteins for UNC93B1 Gene

  • Protein details for UNC93B1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H1C4-UN93B_HUMAN
    Recommended name:
    Protein unc-93 homolog B1
    Protein Accession:
    Q9H1C4
    Secondary Accessions:
    • O95764
    • Q569H6
    • Q710D4

    Protein attributes for UNC93B1 Gene

    Size:
    597 amino acids
    Molecular mass:
    66631 Da
    Quaternary structure:
    • Interacts with TLR3, TLR7, and TLR9 (probably via transmembrane domain).
    SequenceCaution:
    • Sequence=AAD15416.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

neXtProt entry for UNC93B1 Gene

Proteomics data for UNC93B1 Gene at MOPED

Post-translational modifications for UNC93B1 Gene

Other Protein References for UNC93B1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for UNC93B1 Gene

Domains for UNC93B1 Gene

Protein Domains for UNC93B1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for UNC93B1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9H1C4

UniProtKB/Swiss-Prot:

UN93B_HUMAN :
  • Q9H1C4
Family:
  • Belongs to the unc-93 family.
genes like me logo Genes that share domains with UNC93B1: view

No data available for Gene Families for UNC93B1 Gene

Function for UNC93B1 Gene

Molecular function for UNC93B1 Gene

UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot Induction: Up-regulated by TLRs agonists.

Gene Ontology (GO) - Molecular Function for UNC93B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding --
GO:0035325 Toll-like receptor binding IEA --
genes like me logo Genes that share ontologies with UNC93B1: view
genes like me logo Genes that share phenotypes with UNC93B1: view

Animal Model Products

CRISPR Products

miRNA for UNC93B1 Gene

miRTarBase miRNAs that target UNC93B1

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for UNC93B1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for UNC93B1 Gene

Localization for UNC93B1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for UNC93B1 Gene

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

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for UNC93B1 Gene COMPARTMENTS Subcellular localization image for UNC93B1 gene
Compartment Confidence
endoplasmic reticulum 5
endosome 5
golgi apparatus 4
lysosome 4
vacuole 4
plasma membrane 3
peroxisome 2

Gene Ontology (GO) - Cellular Components for UNC93B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005764 lysosome ISS --
GO:0005768 endosome ISS --
GO:0005783 endoplasmic reticulum IDA 18082565
GO:0005789 endoplasmic reticulum membrane TAS --
genes like me logo Genes that share ontologies with UNC93B1: view

Pathways for UNC93B1 Gene

genes like me logo Genes that share pathways with UNC93B1: view

Pathways by source for UNC93B1 Gene

1 Reactome pathway for UNC93B1 Gene

Gene Ontology (GO) - Biological Process for UNC93B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002224 toll-like receptor signaling pathway TAS --
GO:0006886 intracellular protein transport ISS --
GO:0019886 antigen processing and presentation of exogenous peptide antigen via MHC class II IEA --
GO:0034138 toll-like receptor 3 signaling pathway IMP 18082565
GO:0034154 toll-like receptor 7 signaling pathway IMP 19006693
genes like me logo Genes that share ontologies with UNC93B1: view

Transcripts for UNC93B1 Gene

Unigene Clusters for UNC93B1 Gene

Unc-93 homolog B1 (C. elegans):
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for UNC93B1

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for UNC93B1 Gene

ExUns: 1 ^ 2a · 2b · 2c · 2d ^ 3a · 3b · 3c ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b · 9c ^ 10 ^ 11
SP1: - - - -
SP2: - -
SP3: -
SP4: - - - - - - -
SP5: - - -
SP6:
SP7: - - -
SP8: -
SP9: - -

Relevant External Links for UNC93B1 Gene

GeneLoc Exon Structure for
UNC93B1
ECgene alternative splicing isoforms for
UNC93B1

Expression for UNC93B1 Gene

mRNA expression in normal human tissues for UNC93B1 Gene

mRNA differential expression in normal tissues according to GTEx for UNC93B1 Gene

This gene is overexpressed in Whole Blood (8.2) and Spleen (5.2).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for UNC93B1 Gene

SOURCE GeneReport for Unigene cluster for UNC93B1 Gene Hs.502989

mRNA Expression by UniProt/SwissProt for UNC93B1 Gene

Q9H1C4-UN93B_HUMAN
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.
genes like me logo Genes that share expressions with UNC93B1: view

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for UNC93B1 Gene

Orthologs for UNC93B1 Gene

This gene was present in the common ancestor of animals.

Orthologs for UNC93B1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia UNC93B1 35
  • 96.8 (n)
  • 96.45 (a)
UNC93B1 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia UNC93B1 35
  • 90.4 (n)
  • 93.3 (a)
UNC93B1 36
  • 92 (a)
OneToMany
dog
(Canis familiaris)
Mammalia -- 36
  • 92 (a)
OneToMany
UNC93B1 35
  • 89.32 (n)
  • 92.66 (a)
mouse
(Mus musculus)
Mammalia Unc93b1 35
  • 84.53 (n)
  • 89.78 (a)
Unc93b1 16
Unc93b1 36
  • 87 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 73 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 45 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Unc93b1 35
  • 84.14 (n)
  • 89.95 (a)
chicken
(Gallus gallus)
Aves UNC93B1 35
  • 75.6 (n)
  • 71.1 (a)
UNC93B1 36
  • 64 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 66 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia unc93b1 35
  • 60.76 (n)
  • 62.31 (a)
zebrafish
(Danio rerio)
Actinopterygii unc93b1 35
  • 65.1 (n)
  • 62.96 (a)
unc93b1 36
  • 58 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG2121 36
  • 16 (a)
ManyToMany
CG4928 36
  • 19 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea unc-93 36
  • 13 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 16 (a)
ManyToMany
-- 36
  • 15 (a)
ManyToMany
-- 36
  • 18 (a)
ManyToMany
Species with no ortholog for UNC93B1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for UNC93B1 Gene

ENSEMBL:
Gene Tree for UNC93B1 (if available)
TreeFam:
Gene Tree for UNC93B1 (if available)

Paralogs for UNC93B1 Gene

Paralogs for UNC93B1 Gene

Selected SIMAP similar genes for UNC93B1 Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with UNC93B1: view

Variants for UNC93B1 Gene

Sequence variations from dbSNP and Humsavar for UNC93B1 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type MAF
rs7149 -- 67,991,783(-) CTGCG(C/G)CGGGG reference, synonymous-codon
rs7932 -- 67,991,424(-) TCCCC(C/G)ACGTT utr-variant-3-prime
rs12660 -- 67,995,753(+) GCTCC(A/G)GCCAC reference, synonymous-codon
rs188665 -- 67,992,783(-) ggagg(C/T)tgagg intron-variant
rs192809 -- 67,992,895(-) gagat(C/T)tggag intron-variant

Structural Variations from Database of Genomic Variants (DGV) for UNC93B1 Gene

Variant ID Type Subtype PubMed ID
nsv468606 CNV Gain 19166990
dgv394e1 CNV Complex 17122850
dgv395e1 CNV Complex 17122850
nsv428260 CNV Gain 18775914
nsv469856 CNV Gain 16826518
nsv8836 CNV Gain 18304495
dgv1203n71 CNV Loss 21882294
dgv1204n71 CNV Loss 21882294
nsv482160 CNV Gain 20164927
nsv825963 CNV Gain 20364138
nsv897839 CNV Loss 21882294
dgv156n27 CNV Loss 19166990
dgv1205n71 CNV Loss 21882294
nsv468615 CNV Loss 19166990
nsv469964 CNV Loss 18288195

Relevant External Links for UNC93B1 Gene

HapMap Linkage Disequilibrium report
UNC93B1
Human Gene Mutation Database (HGMD)
UNC93B1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for UNC93B1 Gene

Disorders for UNC93B1 Gene

(1) OMIM Diseases for UNC93B1 Gene (608204)

UniProtKB/Swiss-Prot

UN93B_HUMAN
  • 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:0000269 PubMed: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.

(3) University of Copenhagen DISEASES for UNC93B1 Gene

genes like me logo Genes that share disorders with UNC93B1: view

Publications for UNC93B1 Gene

  1. hUNC93B1: a novel human gene representing a new gene family and encoding an unc-93-like protein. (PMID: 11867227) Kashuba V.I. … Zabarovsky E.R. (Gene 2002) 2 3 4 23
  2. Assessing the function of human UNC-93B in Toll-like receptor signaling and major histocompatibility complex II response. (PMID: 18082565) Koehn J. … Korthaeuer U. (Hum. Immunol. 2007) 3 4 23
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  4. Human chromosome 11 DNA sequence and analysis including novel gene identification. (PMID: 16554811) Taylor T.D. … Sakaki Y. (Nature 2006) 3 4
  5. Herpes simplex virus encephalitis in human UNC-93B deficiency. (PMID: 16973841) Casrouge A. … Casanova J.-L. (Science 2006) 3 4

Products for UNC93B1 Gene

Sources for UNC93B1 Gene

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