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Aliases for UNC93B1 Gene

Aliases for UNC93B1 Gene

  • Unc-93 Homolog B1, TLR Signaling Regulator 2 3
  • Unc-93 Homolog B1 (C. Elegans) 2 5
  • Unc-93B1 3 4
  • UNC93B 3 4
  • UNC93 3 4
  • 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 Susceptibility 1. Among its related pathways are Innate Immune System and Activated TLR4 signalling. 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

Regulatory Elements for UNC93B1 Gene

Enhancers for UNC93B1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11H067996 1.2 Ensembl ENCODE 23.2 +7.5 7489 2 HDAC1 TBP HDGF PKNOX1 ZBTB40 ZNF121 GLIS2 ATF7 RUNX3 DEK UNC93B1 OR7E1P
GH11H067646 1.4 Ensembl ENCODE dbSUPER 12.6 +357.2 357157 3 HDGF PKNOX1 PTBP1 ZSCAN4 ARID4B RAD21 GLIS2 ZNF143 ZNF207 ETV6 ALDH3B2 UNC93B1 RPL37P2 ACY3 NUDT8 TBX10
GH11H068410 1.1 ENCODE dbSUPER 12.6 -408.0 -407968 4 HDGF PKNOX1 BATF SCRT2 ZNF143 ATF7 RUNX3 CREM IKZF2 SMARCA5 PPP6R3 UNC93B1 GAL GC11P068382 GC11M068452
GH11H067316 1.1 ENCODE 12.6 +687.4 687412 2 HDGF ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF143 SP3 MXD4 SSH3 MRPL11 ENSG00000258297 RBM4 KMT5B RBM14 GRK2 UNC93B1 POLD4 RN7SKP239
GH11H068002 1 ENCODE 13.3 +1.3 1312 3 HDGF PKNOX1 ATF1 FOXA2 ARID4B SIN3A GTF3C2 GLIS2 ZNF143 ZNF207 KMT5B PPP6R3 KDM2A ENSG00000260808 RAD9A UNC93B1 RPS6KB2 NDUFS8 CORO1B ENSG00000255031
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around UNC93B1 on UCSC Golden Path with GeneCards custom track

Promoters for UNC93B1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000041170 1382 1201 ATF1 ARID4B SIN3A GTF3C2 GLIS2 ZNF207 RUNX3 SP3 SP5 KAT8

Genomic Location for UNC93B1 Gene

Chromosome:
11
Start:
67,991,100 bp from pter
End:
68,004,982 bp from pter
Size:
13,883 bases
Orientation:
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:
    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

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
  • Predicted membrane proteins

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 :
  • Belongs to the unc-93 family.
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

CRISPR Products

miRNA for UNC93B1 Gene

miRTarBase miRNAs that target UNC93B1

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for UNC93B1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

COMPARTMENTS
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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for UNC93B1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 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:

UNC93B1

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.

Evidence on tissue expression from TISSUES for UNC93B1 Gene

  • Nervous system(4.3)
  • Kidney(4.2)
  • Blood(2.8)
  • Spleen(2.7)
  • Lymph node(2.4)

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

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

Primer Products

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
chimpanzee
(Pan troglodytes)
Mammalia UNC93B1 33 34
  • 96.8 (n)
dog
(Canis familiaris)
Mammalia -- 34
  • 92 (a)
OneToMany
UNC93B1 33
  • 89.32 (n)
cow
(Bos Taurus)
Mammalia UNC93B1 33 34
  • 90.4 (n)
mouse
(Mus musculus)
Mammalia Unc93b1 33 16 34
  • 84.53 (n)
rat
(Rattus norvegicus)
Mammalia Unc93b1 33
  • 84.14 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 73 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 45 (a)
OneToMany
chicken
(Gallus gallus)
Aves UNC93B1 33 34
  • 75.6 (n)
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 66 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia unc93b1 33
  • 60.76 (n)
zebrafish
(Danio rerio)
Actinopterygii unc93b1 33 34
  • 65.1 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG4928 34
  • 19 (a)
ManyToMany
CG2121 34
  • 16 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea unc-93 34
  • 13 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 18 (a)
ManyToMany
-- 34
  • 16 (a)
ManyToMany
-- 34
  • 15 (a)
ManyToMany
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

ENSEMBL:
Gene Tree for UNC93B1 (if available)
TreeFam:
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 Sequence Context AA Info Type
rs751962660 Uncertain significance 67,995,854(+) CAGCC(C/G)CTCCA reference, missense
rs1000119825 -- 67,996,742(+) ATCGA(C/T)CTCCT reference, missense
rs1000234206 -- 67,997,004(+) CACTC(C/G)GAAAG intron-variant
rs1000291135 -- 67,991,704(+) CGAGT(C/T)GTCCT reference, missense
rs1000652932 -- 68,003,349(+) CCCGC(A/G)GCCAC intron-variant, upstream-variant-2KB

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)

Relevant External Links for UNC93B1 Gene

Human Gene Mutation Database (HGMD)
UNC93B1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
UNC93B1

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

Disorders for UNC93B1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
herpes simplex encephalitis 1
  • encephalopathy, acute, infection-induced, 1
herpes simplex encephalitis susceptibility 1
  • iiae1
herpes simplex encephalitis
  • herpes simplex meningo-encephalitis
encephalitis
melkersson-rosenthal syndrome
  • cheilitis granulomatosa of mescher-melkersson-rosenthal
- elite association - COSMIC cancer census association via MalaCards

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.

Relevant External Links for UNC93B1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 60
  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 60
  3. BAD-LAMP is a novel biomarker of nonactivated human plasmacytoid dendritic cells. (PMID: 21642595) Defays A … Pierre P (Blood 2011) 3 4 60
  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 60
  5. Human chromosome 11 DNA sequence and analysis including novel gene identification. (PMID: 16554811) Taylor TD … Sakaki Y (Nature 2006) 3 4 60

Products for UNC93B1 Gene

Sources for UNC93B1 Gene

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