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    TLR7 toll like receptor 7 [ Homo sapiens (human) ]

    Gene ID: 51284, updated on 10-Dec-2024

    Summary

    Official Symbol
    TLR7provided by HGNC
    Official Full Name
    toll like receptor 7provided by HGNC
    Primary source
    HGNC:HGNC:15631
    See related
    Ensembl:ENSG00000196664 MIM:300365; AllianceGenome:HGNC:15631
    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
    IMD74; SLEB17; TLR7-like
    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. The human TLR family comprises 11 members. 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. For the recognition of structural components in foreign microorganisms, the various TLRs exhibit different patterns of expression as well; in this way for example, TLR-3, -7, and -8 are essential in the recognition of single-stranded RNA viruses. TLR7 senses single-stranded RNA oligonucleotides containing guanosine- and uridine-rich sequences from RNA viruses, a recognition occuring in the endosomes of plasmacytoid dendritic cells and B cells. This gene is predominantly expressed in lung, placenta, and spleen, and is phylogenetically related and lies in close proximity to another family member, TLR8, on chromosome X. [provided by RefSeq, Aug 2020]
    Annotation information
    Note: This gene has been reviewed for its involvement in coronavirus biology, and is involved in immune response or antiviral activity.
    Expression
    Broad expression in placenta (RPKM 3.3), appendix (RPKM 3.0) and 23 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See TLR7 in Genome Data Viewer
    Location:
    Xp22.2
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (12867072..12890361)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (12448550..12471838)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (12885191..12908480)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene proteasome subunit alpha 6 pseudogene 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29412 Neighboring gene mitochondrial ribosomal protein L35 pseudogene 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29413 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29414 Neighboring gene Sharpr-MPRA regulatory region 5588 Neighboring gene TLR8 antisense RNA 1 Neighboring gene toll like receptor 8 Neighboring gene CRISPRi-validated cis-regulatory element chrX.229 Neighboring gene Sharpr-MPRA regulatory region 4636 Neighboring gene CRISPRi-validated cis-regulatory element chrX.231 Neighboring gene CRISPRi-validated cis-regulatory element chrX.232 Neighboring gene CRISPRi-validated cis-regulatory element chrX.233 Neighboring gene CRISPRi-validated cis-regulatory element chrX.234 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chrX:12982027-12982688 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29420 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29421 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29422 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:12992269-12993108 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:12993948-12994786 Neighboring gene thymosin beta 4 X-linked

    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?

    Phenotypes

    Associated conditions

    Description Tests
    Immunodeficiency 74, COVID-19-related, X-linked
    MedGen: C5435745 OMIM: 301051 GeneReviews: Not available
    Compare labs
    Systemic lupus erythematosus 17
    MedGen: C5676884 OMIM: 301080 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    Multiple common variants for celiac disease influencing immune gene expression.
    EBI GWAS Catalog

    HIV-1 interactions

    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
    Envelope transmembrane glycoprotein gp41 env A synthetic peptide corresponding to the immunosuppressive domain (amino acids 574-592) of HIV-1 gp41 downregulates the expression of toll-like receptor 7 (TLR7) in peptide-treated PBMCs PubMed
    reverse transcriptase gag-pol Gardiquimod, a Toll-like receptor-7 agonist, inhibits HIV-1 reverse transcriptase in HIV-1-infected macrophages PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables double-stranded RNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables pattern recognition receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables siRNA binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables single-stranded RNA binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables single-stranded RNA binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    involved_in I-kappaB phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in JNK cascade IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in canonical NF-kappaB signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in canonical NF-kappaB signal transduction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cellular response to mechanical stimulus IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in cellular response to virus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in defense response to virus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in defense response to virus IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in defense response to virus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in inflammatory response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in innate immune response IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of canonical NF-kappaB signal transduction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of chemokine production IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of inflammatory response IC
    Inferred by Curator
    more info
    PubMed 
    involved_in positive regulation of interferon-alpha production IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of interferon-beta production IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of interleukin-6 production IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of interleukin-8 production IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of interleukin-8 production IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of macrophage cytokine production IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of non-canonical NF-kappaB signal transduction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of type II interferon production IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in response to cGMP 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 IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in toll-like receptor 8 signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in toll-like receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    located_in Golgi membrane TAS
    Traceable Author Statement
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in early phagosome ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in endolysosome membrane TAS
    Traceable Author Statement
    more info
     
    located_in endoplasmic reticulum ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    located_in endosome ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in endosome membrane TAS
    Traceable Author Statement
    more info
     
    located_in lysosome ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of receptor complex IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    toll-like receptor 7
    Names
    toll-like receptor 7-like

    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_012569.1 RefSeqGene

      Range
      4990..28279
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_016562.4NP_057646.1  toll-like receptor 7 precursor

      See identical proteins and their annotated locations for NP_057646.1

      Status: REVIEWED

      Source sequence(s)
      AC005859, AF240467, BC033651
      Consensus CDS
      CCDS14151.1
      UniProtKB/Swiss-Prot
      D1CS69, Q9NR98, Q9NYK1
      UniProtKB/TrEMBL
      B2R9N9, D1CS68
      Related
      ENSP00000370034.3, ENST00000380659.4
      Conserved Domains (6) summary
      TIGR00864
      Location:753837
      PCC; polycystin cation channel protein
      smart00255
      Location:890993
      TIR; Toll - interleukin 1 - resistance
      PLN00113
      Location:191711
      PLN00113; leucine-rich repeat receptor-like protein kinase; Provisional
      COG4886
      Location:488775
      LRR; Leucine-rich repeat (LRR) protein [Transcription]
      sd00033
      Location:496518
      LRR_RI; leucine-rich repeat [structural motif]
      pfam13855
      Location:75139
      LRR_8; Leucine rich repeat

    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_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      12867072..12890361
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      12448550..12471838
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NG_001066.3: Suppressed sequence

      Description
      NG_001066.3: This RefSeq was permanently suppressed because it is primarily UTR sequence.