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Aliases for UNC93B1 Gene

Aliases for UNC93B1 Gene

  • Unc-93 Homolog B1, TLR Signaling Regulator 2 3 5
  • Unc-93B1 3 4
  • UNC93B 3 4
  • UNC93 3 4
  • Unc-93 Homolog B1 (C. Elegans) 2
  • Unc93 (C. Elegans) Homolog B1 2
  • Protein Unc-93 Homolog B1 3
  • Unc-93 Related Protein 3
  • Unc-93 Homolog B1 3
  • Unc93 Homolog B1 3
  • HUNC93B1 4
  • IIAE1 3

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, TLR Signaling Regulator) is a Protein Coding gene. Diseases associated with UNC93B1 include Herpes Simplex Encephalitis 1 and Herpes Simplex Encephalitis. Among its related pathways are Innate Immune System and Activated TLR4 signalling. Gene Ontology (GO) annotations related to this gene include Toll-like receptor binding. 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

Additional gene information for UNC93B1 Gene

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

Genomics for UNC93B1 Gene

GeneHancer (GH) Regulatory Elements for UNC93B1 Gene

Promoters and enhancers for UNC93B1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11I068002 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 563.4 +1.3 1312 3.1 HDGF PKNOX1 CLOCK ATF1 FOXA2 ARID4B SIN3A ZNF48 GTF3C2 GLIS2 UNC93B1 NDUFS8 ENSG00000255031 ALDH3B1 MRPL21 GC11M068005 OR7E1P
GH11I067996 Enhancer 1.1 Ensembl ENCODE 23.2 +7.5 7488 2.3 HDAC1 HDGF PKNOX1 ZBTB40 ZNF121 GLIS2 E2F8 ATF7 RUNX3 DEK UNC93B1 OR7E1P
GH11I067646 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE dbSUPER 12.6 +357.2 357156 3.4 HDGF PKNOX1 ZSCAN4 ARID4B IRF4 RAD21 GLIS2 ZNF207 ZNF143 ETV6 ACY3 ALDH3B2 UNC93B1 RPL37P2 NUDT8 TBX10
GH11I067316 Promoter/Enhancer 1.6 Ensembl ENCODE 12.6 +687.4 687411 2.3 HDGF SMAD1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 POLR2B ZNF213 LOC100130987 RAD9A SSH3 ENSG00000258297 RBM4 KMT5B RBM14 GRK2 UNC93B1 POLD4
GH11I068410 Enhancer 1 ENCODE dbSUPER 12.6 -408.0 -407967 4.5 HDGF PKNOX1 BATF KLF5 IRF4 SCRT2 ZNF143 ATF7 IKZF2 RUNX3 PPP6R3 UNC93B1 GAL GC11P068379 GC11P068382 GC11M068452 LRP5
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around UNC93B1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the UNC93B1 gene promoter:

Genomic Locations for UNC93B1 Gene

Genomic Locations for UNC93B1 Gene
13,883 bases
Minus strand

Genomic View for UNC93B1 Gene

Genes around UNC93B1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
UNC93B1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:
    Recommended name:
    Protein unc-93 homolog B1
    Protein Accession:
    Secondary Accessions:
    • O95764
    • Q569H6
    • Q710D4

    Protein attributes for UNC93B1 Gene

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

neXtProt entry for UNC93B1 Gene

Post-translational modifications for UNC93B1 Gene

Other Protein References for UNC93B1 Gene

No data available for DME Specific Peptides for UNC93B1 Gene

Domains & Families for UNC93B1 Gene

Gene Families for UNC93B1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Potential drug targets
  • Predicted membrane proteins
  • Transporters

Protein Domains for UNC93B1 Gene


Suggested Antigen Peptide Sequences for UNC93B1 Gene

Graphical View of Domain Structure for InterPro Entry



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

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:0035325 Toll-like receptor binding IBA --
genes like me logo Genes that share ontologies with UNC93B1: view
genes like me logo Genes that share phenotypes with UNC93B1: view

Animal Models for UNC93B1 Gene

MGI Knock Outs for UNC93B1:

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Transcription Factor Targets 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

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for UNC93B1 gene
Compartment Confidence
endoplasmic reticulum 5
lysosome 5
endosome 5
golgi apparatus 4
plasma membrane 3
peroxisome 2

Subcellular locations from the

Human Protein Atlas (HPA)

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 IEA,IDA 18082565
GO:0005789 endoplasmic reticulum membrane TAS --
genes like me logo Genes that share ontologies with UNC93B1: view

Pathways & Interactions for UNC93B1 Gene

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

Pathways by source 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:0002250 adaptive immune response IEA --
GO:0002376 immune system process IEA --
GO:0006886 intracellular protein transport ISS --
GO:0034138 toll-like receptor 3 signaling pathway IMP 18082565
genes like me logo Genes that share ontologies with UNC93B1: view

No data available for SIGNOR curated interactions for UNC93B1 Gene

Drugs & Compounds for UNC93B1 Gene

No Compound Related Data Available

Transcripts for UNC93B1 Gene

Unigene Clusters for UNC93B1 Gene

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

Clone 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: - - -
SP7: - - -
SP8: -
SP9: - -

Relevant External Links for UNC93B1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for UNC93B1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for UNC93B1 Gene

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

This gene is overexpressed in Whole Blood (x8.2) and Spleen (x5.2).

Protein differential expression in normal tissues from HIPED for UNC93B1 Gene

This gene is overexpressed in Nasal epithelium (47.7) and Pancreas (10.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for UNC93B1 Gene

NURSA nuclear receptor signaling pathways regulating expression of UNC93B1 Gene:


SOURCE GeneReport for Unigene cluster for UNC93B1 Gene:


mRNA Expression by UniProt/SwissProt for UNC93B1 Gene:

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.

Evidence on tissue expression from TISSUES for UNC93B1 Gene

  • Nervous system(4.3)
  • Kidney(4.2)
  • Blood(2.8)
  • Spleen(2.7)
  • Lymph node(2.5)

Phenotype-based relationships between genes and organs from Gene ORGANizer for UNC93B1 Gene

Germ Layers:
  • ectoderm
  • mesoderm
  • immune
  • nervous
Head and neck:
  • brain
  • head
  • blood
  • white blood cell
genes like me logo Genes that share expression patterns with UNC93B1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Protein tissue co-expression partners 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
(Pan troglodytes)
Mammalia UNC93B1 33 34
  • 96.8 (n)
(Canis familiaris)
Mammalia -- 34
  • 92 (a)
UNC93B1 33
  • 89.32 (n)
(Bos Taurus)
Mammalia UNC93B1 33 34
  • 90.4 (n)
(Mus musculus)
Mammalia Unc93b1 33 16 34
  • 84.53 (n)
(Rattus norvegicus)
Mammalia Unc93b1 33
  • 84.14 (n)
(Monodelphis domestica)
Mammalia -- 34
  • 73 (a)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 45 (a)
(Gallus gallus)
Aves UNC93B1 33 34
  • 75.6 (n)
(Anolis carolinensis)
Reptilia -- 34
  • 66 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia unc93b1 33
  • 60.76 (n)
(Danio rerio)
Actinopterygii unc93b1 33 34
  • 65.1 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG4928 34
  • 19 (a)
CG2121 34
  • 16 (a)
(Caenorhabditis elegans)
Secernentea unc-93 34
  • 13 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 18 (a)
-- 34
  • 16 (a)
-- 34
  • 15 (a)
Species where no ortholog for UNC93B1 was found in the sources mined by GeneCards:
  • 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

Gene Tree for UNC93B1 (if available)
Gene Tree for UNC93B1 (if available)

Paralogs for UNC93B1 Gene

Paralogs for UNC93B1 Gene

(1) 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 Variation AA Info Type
rs112284414 benign, Herpes simplex encephalitis 1 67,995,768(-) C/G/T coding_sequence_variant, synonymous_variant
rs11543208 benign, Herpes simplex encephalitis 1 67,995,811(-) G/A coding_sequence_variant, missense_variant
rs144399212 likely-benign, Herpes simplex encephalitis 1 67,999,234(-) G/A coding_sequence_variant, missense_variant
rs146593182 likely-benign, Herpes simplex encephalitis 1 68,003,029(-) G/T 5_prime_UTR_variant, coding_sequence_variant, missense_variant
rs199824078 likely-benign, Herpes simplex encephalitis 1 67,993,705(-) C/T coding_sequence_variant, missense_variant

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

Variant ID Type Subtype PubMed ID
dgv1214n100 CNV gain 25217958
dgv1221n100 CNV gain 25217958
dgv156n27 CNV loss 19166990
dgv1981n54 CNV gain 21841781
esv2759835 CNV gain+loss 17122850
esv3547936 CNV deletion 23714750
esv3626730 CNV loss 21293372
nsv1038960 CNV loss 25217958
nsv1134150 CNV deletion 24896259
nsv428260 CNV gain 18775914
nsv468606 CNV gain 19166990
nsv468615 CNV loss 19166990
nsv469856 CNV gain 16826518
nsv469964 CNV loss 18288195
nsv482160 CNV gain 20164927
nsv555277 CNV loss 21841781
nsv555278 CNV loss 21841781
nsv825963 CNV gain 20364138
nsv8836 CNV gain 18304495
nsv951026 CNV deletion 24416366
nsv983037 CNV duplication 23825009

Variation tolerance for UNC93B1 Gene

Gene Damage Index Score: 2.67; 45.91% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for UNC93B1 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

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

Disorders for UNC93B1 Gene

MalaCards: The human disease database

(7) MalaCards diseases for UNC93B1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
herpes simplex encephalitis 1
  • herpes simplex encephalitis, susceptibility to, 1
herpes simplex encephalitis
  • herpes simplex meningo-encephalitis
melkersson-rosenthal syndrome
  • mros; mrs
herpes simplex
  • herpesvirus hominis disease
- elite association - COSMIC cancer census association via MalaCards


  • 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.

Additional Disease Information for UNC93B1

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

No data available for Genatlas for UNC93B1 Gene

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 VI … Zabarovsky ER (Gene 2002) 2 3 4 22 58
  2. Assessing the function of human UNC-93B in Toll-like receptor signaling and major histocompatibility complex II response. (PMID: 18082565) Koehn J … Korthäuer U (Human immunology 2007) 3 4 22 58
  3. BAD-LAMP is a novel biomarker of nonactivated human plasmacytoid dendritic cells. (PMID: 21642595) Defays A … Pierre P (Blood 2011) 3 4 58
  4. IRAK-4- and MyD88-dependent pathways are essential for the removal of developing autoreactive B cells in humans. (PMID: 19006693) Isnardi I … Meffre E (Immunity 2008) 3 4 58
  5. Human chromosome 11 DNA sequence and analysis including novel gene identification. (PMID: 16554811) Taylor TD … Sakaki Y (Nature 2006) 3 4 58

Products for UNC93B1 Gene

Sources for UNC93B1 Gene

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