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    TLR8 toll like receptor 8 [ Homo sapiens (human) ]

    Gene ID: 51311, updated on 14-Oct-2018

    Summary

    Official Symbol
    TLR8provided by HGNC
    Official Full Name
    toll like receptor 8provided by HGNC
    Primary source
    HGNC:HGNC:15632
    See related
    Ensembl:ENSG00000101916 MIM:300366; Vega:OTTHUMG00000021145
    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
    CD288
    Summary
    The protein encoded by this gene is a member of the Toll-like receptor (TLR) family which plays a fundamental role in pathogen recognition and activation of innate immunity. TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. They recognize pathogen-associated molecular patterns (PAMPs) that are expressed on infectious agents, and mediate the production of cytokines necessary for the development of effective immunity. The various TLRs exhibit different patterns of expression. This gene is predominantly expressed in lung and peripheral blood leukocytes, and lies in close proximity to another family member, TLR7, on chromosome X. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in appendix (RPKM 10.8), spleen (RPKM 6.1) and 9 other tissues See more
    Orthologs

    Genomic context

    See TLR8 in Genome Data Viewer
    Location:
    Xp22.2
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) X NC_000023.11 (12906620..12923169)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (12924739..12941288)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene mitochondrial ribosomal protein L35 pseudogene 4 Neighboring gene toll like receptor 7 Neighboring gene TLR8 antisense RNA 1 Neighboring gene thymosin beta 4 X-linked Neighboring gene uncharacterized LOC105373133 Neighboring gene family with sequence similarity 9 member C

    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 Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Treatment of macrophages (24 hours) with purified HIV-1 and shTLR8 indicate that HIV-1 activates TLR8 to induce autophagy at early timepoints post-HIV exposure PubMed

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp160, precursor env Combined activation of TLR7/8 and TLR9 by TLR7/8 and TLR9 agonists induces the highest titers of binding, neutralizing, and antibody-dependent cellular cytotoxicity-mediating antibodies against HIV-1 Env/gp140 PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from BioSystems

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC119599, MGC119600

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    RNA binding TAS
    Traceable Author Statement
    more info
    PubMed 
    double-stranded RNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    drug binding IEA
    Inferred from Electronic Annotation
    more info
     
    signaling pattern recognition receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    signaling receptor activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    single-stranded RNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transmembrane signaling receptor activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    I-kappaB kinase/NF-kappaB signaling IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    I-kappaB kinase/NF-kappaB signaling IDA
    Inferred from Direct Assay
    more info
    PubMed 
    MyD88-dependent toll-like receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to mechanical stimulus IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    defense response to virus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    defense response to virus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    immune response IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    immunoglobulin mediated immune response TAS
    Traceable Author Statement
    more info
    PubMed 
    innate immune response NAS
    Non-traceable Author Statement
    more info
    PubMed 
    microglial cell activation IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of interleukin-12 secretion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of innate immune response IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of interferon-alpha biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of interferon-beta biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    positive regulation of interferon-beta biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of interferon-gamma biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    positive regulation of interferon-gamma biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of interleukin-1 beta secretion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of interleukin-6 production IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    positive regulation of interleukin-6 secretion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of interleukin-8 biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    positive regulation of interleukin-8 biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of protein phosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    response to virus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    toll-like receptor 8 signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    toll-like receptor 9 signaling pathway TAS
    Traceable Author Statement
    more info
     
    toll-like receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    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
     
    endolysosome membrane TAS
    Traceable Author Statement
    more info
     
    endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    endosome membrane TAS
    Traceable Author Statement
    more info
     
    external side of plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 

    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_012882.2 RefSeqGene

      Range
      5001..21550
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_016610.3NP_057694.2  toll-like receptor 8 isoform 1

      See identical proteins and their annotated locations for NP_057694.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AB445666, AF246971, AK314240, AY358296
      Consensus CDS
      CCDS14153.1
      UniProtKB/Swiss-Prot
      Q9NR97
      Related
      ENSP00000312082.5, OTTHUMP00000022929, ENST00000311912.5, OTTHUMT00000055783
      Conserved Domains (5) summary
      smart00082
      Location:790835
      LRRCT; Leucine rich repeat C-terminal domain
      smart00255
      Location:8981040
      TIR; Toll - interleukin 1 - resistance
      cd00116
      Location:504719
      LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
      sd00033
      Location:504524
      LRR_RI; leucine-rich repeat [structural motif]
      pfam13855
      Location:657718
      LRR_8; Leucine rich repeat
    2. NM_138636.5NP_619542.1  toll-like receptor 8 isoform 2 precursor

      See identical proteins and their annotated locations for NP_619542.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in its 5' UTR and 5' coding region, compared to variant 1. The encoded isoform (2) has a shorter and distinct N-terminus, compared to isoform 2.
      Source sequence(s)
      AC005859, AC139705, KC877963
      Consensus CDS
      CCDS14152.1
      UniProtKB/Swiss-Prot
      Q9NR97
      Related
      ENSP00000218032.6, OTTHUMP00000022930, ENST00000218032.6, OTTHUMT00000055784
      Conserved Domains (5) summary
      smart00082
      Location:772817
      LRRCT; Leucine rich repeat C-terminal domain
      smart00255
      Location:8801022
      TIR; Toll - interleukin 1 - resistance
      cd00116
      Location:486701
      LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
      sd00033
      Location:486506
      LRR_RI; leucine-rich repeat [structural motif]
      pfam13855
      Location:639700
      LRR_8; Leucine rich repeat

    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.p12 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p12 Primary Assembly

      Range
      12906620..12923169
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011545530.2XP_011543832.1  toll-like receptor 8 isoform X1

      See identical proteins and their annotated locations for XP_011543832.1

      UniProtKB/Swiss-Prot
      Q9NR97
      Conserved Domains (5) summary
      smart00082
      Location:790835
      LRRCT; Leucine rich repeat C-terminal domain
      smart00255
      Location:8981040
      TIR; Toll - interleukin 1 - resistance
      cd00116
      Location:504719
      LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
      sd00033
      Location:504524
      LRR_RI; leucine-rich repeat [structural motif]
      pfam13855
      Location:657718
      LRR_8; Leucine rich repeat
    2. XM_011545529.1XP_011543831.1  toll-like receptor 8 isoform X1

      See identical proteins and their annotated locations for XP_011543831.1

      UniProtKB/Swiss-Prot
      Q9NR97
      Conserved Domains (5) summary
      smart00082
      Location:790835
      LRRCT; Leucine rich repeat C-terminal domain
      smart00255
      Location:8981040
      TIR; Toll - interleukin 1 - resistance
      cd00116
      Location:504719
      LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
      sd00033
      Location:504524
      LRR_RI; leucine-rich repeat [structural motif]
      pfam13855
      Location:657718
      LRR_8; Leucine rich repeat
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