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

    Gene ID: 81622, updated on 9-Dec-2024

    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; AllianceGenome:HGNC:13481
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See UNC93B1 in Genome Data Viewer
    Location:
    11q13.2
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (67991100..68004097, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (67994743..68007749, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (67758571..67771567, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902697 Neighboring gene olfactory receptor family 7 subfamily E member 1 pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:67758703-67759308 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3652 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:67764416-67765090 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:67765091-67765764 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5126 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5127 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5128 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3653 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:67771524-67772067 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:67772068-67772610 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:67777316-67778144 Neighboring gene aldehyde dehydrogenase 3 family member B1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:67781777-67782671 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:67794214-67795079 Neighboring gene Sharpr-MPRA regulatory region 3798 Neighboring gene Sharpr-MPRA regulatory region 5992 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5129 Neighboring gene NADH:ubiquinone oxidoreductase core subunit S8 Neighboring gene microRNA 7113

    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 PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC126617

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables Toll-like receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables Toll-like receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in T cell antigen processing and presentation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in antigen processing and presentation of exogenous peptide antigen via MHC class II IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in defense response to virus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in innate immune response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in intracellular protein transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in intracellular protein transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of interleukin-12 production IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of interleukin-6 production IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in toll-like receptor 3 signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in toll-like receptor 3 signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in toll-like receptor 7 signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in toll-like receptor 7 signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in toll-like receptor 9 signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in toll-like receptor 9 signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in toll-like receptor 9 signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in toll-like receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in Golgi membrane TAS
    Traceable Author Statement
    more info
     
    located_in early phagosome ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    is_active_in endosome IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endosome ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in lysosome IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in lysosome ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      O95764, Q569H6, Q710D4, Q9H1C4
      UniProtKB/TrEMBL
      Q58F16
      Related
      ENSP00000227471.3, ENST00000227471.7
      Conserved Domains (1) summary
      cd17408
      Location:64520
      MFS_unc93B1; Protein unc-93 homolog B1 of the Major Facilitator Superfamily of transporters

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

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

    mRNA and Protein(s)

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

    2. XM_011545291.3XP_011543593.1  protein unc-93 homolog B1 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      67994743..68007749 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054370080.1XP_054226055.1  protein unc-93 homolog B1 isoform X1

    2. XM_054370081.1XP_054226056.1  protein unc-93 homolog B1 isoform X2