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

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
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: 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. 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, placenta, and spleen, and lies in close proximity to another family member, TLR8, on chromosome X. [provided by RefSeq, Jul 2008]
Expression: Broad expression in placenta (RPKM 3.3), appendix (RPKM 3.0) and 23 other tissues See more
Orthologs: mouse all

Genomic context

Location:: Xp22.2

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
109.20190607	current	GRCh38.p13 (GCF_000001405.39)	X	NC_000023.11 (12867072..12890361)
105	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (12885202..12908480)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Exosomal FMR1-AS1 facilitates maintaining cancer stem-like cell dynamic equilibrium via TLR7/NF-kappaB/c-Myc signaling in female esophageal carcinoma.
Title: Exosomal FMR1-AS1 facilitates maintaining cancer stem-like cell dynamic equilibrium via TLR7/NFκB/c-Myc signaling in female esophageal carcinoma.
TLR7 agonist promoted CD8(+) T cells function from breast cancer patients
Title: [Influence of Toll-like receptor 7 on CD8(+) T lymphocytes in patients with breast cancer].
In female patients with HIV/HCV-coinfection, HIV-monoinfection, chronic hepatitis C, and healthy individuals the TLR7 gene Leu polymorphic allele is recorded by 2.1-3.6 times more frequently than in male patients
Title: TLR4 and TLR7 genetic polymorphism in patients with HIV/HCV-coinfection: prevalence and gender-related features.
Results of a study compared Spanish psoriasis patient and healthy controls showed significant associations between functional TLR3, TLR7 and TLR9 single nucleotide polymorphisms and psoriatic arthritis, earlier disease onset and a greater risk for psoriasis.
Title: Genetically defined variants of toll-like receptors 3, 7 and 9 as phenotype and risk modifier factors for psoriasis.
This study demonstrated that the rs3853839 C allele of the TLR-7 gene was also a risk factor for severe Hand, Foot, and Mouth Disease (HFMD) in both male and female patients. The A allele at the rs179019 locus of the TLR-7 gene was not risk factors for severe HFMD in either male or female patients.
Title: Association of IL-13, S100B, and TLR-7 Gene Polymorphisms with Enterovirus 71 Infection in Hand, Foot, and Mouth Disease in China.
SOCS1/3-mediated degradation of IFN regulatory factor 7 directly regulates TLR7 signaling and type I IFN production in pDCs.
Title: SOCS1 and SOCS3 Target IRF7 Degradation To Suppress TLR7-Mediated Type I IFN Production of Human Plasmacytoid Dendritic Cells.
Systemic lupus erythematosus CXCR5(-) CD11c(+) B cells (DN2) are hyper-responsive to Toll-like receptor-7 signaling.
Title: Distinct Effector B Cells Induced by Unregulated Toll-like Receptor 7 Contribute to Pathogenic Responses in Systemic Lupus Erythematosus.
the authors provide an overview on the contribution of TLR7 and TLR9 to autoimmune diseases and discuss recent findings indicating a pivotal role for these two receptors, along with Epstein-Barr virus, in driving, perpetuating, and/or amplifying intrathymic B cell dysregulation and autoimmune responses in myasthenia gravis.
Title: Toll-like receptors 7 and 9 in myasthenia gravis thymus: amplifiers of autoimmunity?
the polymorphisms in TLR7 and TLR9 are associated with asthma-related phenotypes and asthma risk in the study population.
Title: Effects of Single-Nucleotide Polymorphisms in the TLR7 and TLR9 Genes of Asthmatic Children.
Lower copy number (=1) of TLR7 gene confers a risk factor for ankylosing spondylitis susceptibility in Chinese males but protective factor in Chinese females.
Title: Association of TLR7 gene copy number variations with ankylosing spondylitis in a Chinese population: a case control study.

Submit: New GeneRIF Correction See all GeneRIFs (264)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

NHGRI GWAS Catalog

Description
Multiple common variants for celiac disease influencing immune gene expression. NHGRI GWA Catalog NHGRI GWA CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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 BioSystems

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Immune System, organism-specific biosystem (from REACTOME)
Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
Influenza A, organism-specific biosystem (from KEGG)
Influenza A, organism-specific biosystemInfluenza is a contagious respiratory disease caused by influenza virus infection. Influenza A virus is responsible for both annual seasonal epidemics and periodic worldwide pandemics. Novel strains ...
Influenza A, conserved biosystem (from KEGG)
Influenza A, conserved biosystemInfluenza is a contagious respiratory disease caused by influenza virus infection. Influenza A virus is responsible for both annual seasonal epidemics and periodic worldwide pandemics. Novel strains ...
Innate Immune System, organism-specific biosystem (from REACTOME)
Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
Measles, organism-specific biosystem (from KEGG)
Measles, organism-specific biosystemMeasles virus (MV) is highly contagious virus that leads infant death worldwide. Humans are the unique natural reservoir for this virus. It causes severe immunosuppression favouring secondary bacteri...
Measles, conserved biosystem (from KEGG)
Measles, conserved biosystemMeasles virus (MV) is highly contagious virus that leads infant death worldwide. Humans are the unique natural reservoir for this virus. It causes severe immunosuppression favouring secondary bacteri...
MyD88 dependent cascade initiated on endosome, organism-specific biosystem (from REACTOME)
MyD88 dependent cascade initiated on endosome, organism-specific biosystemUpon binding of their ligands, TLR7/8 and TLR9 recruit a cytoplasmic adaptor MyD88 and IRAKs, downstream of which the signaling pathways are divided to induce either inflammatory cytokines or type I ...
Regulation of toll-like receptor signaling pathway, organism-specific biosystem (from WikiPathways)
Regulation of toll-like receptor signaling pathway, organism-specific biosystem
Regulation of toll-like receptor signaling pathway
Simplified Depiction of MYD88 Distinct Input-Output Pathway, organism-specific biosystem (from WikiPathways)
Simplified Depiction of MYD88 Distinct Input-Output Pathway, organism-specific biosystemThis pathway is based on figure 7 from Li et al. Formation of MyD88 dimer catalyzes formation of IRAK1/TRAF6 complex. UEV1A and Ubc13 ubiquinate TRAF6 which allow for the activation of NFKB and AP-1 ...
TRAF6 mediated IRF7 activation in TLR7/8 or 9 signaling, organism-specific biosystem (from REACTOME)
TRAF6 mediated IRF7 activation in TLR7/8 or 9 signaling, organism-specific biosystemIn plasmacytoid dendritic cell induction of type I IFNs critically depends on IFN regulatory factor 7 in TLR7 and 9 signaling (Honda et al 2005). IRF-7, but not IRF3, interacts with MyD88, TRAF6, and...
TRAF6 mediated induction of NFkB and MAP kinases upon TLR7/8 or 9 activation, organism-specific biosystem (from REACTOME)
TRAF6 mediated induction of NFkB and MAP kinases upon TLR7/8 or 9 activation, organism-specific biosystemTRAF6 mediates NFkB activation via canonical phosphorylation of IKK complex by TAK1. TRAF6 and TAK1 also regulate MAPK cascades leading to the activation of AP-1.
Toll Like Receptor 7/8 (TLR7/8) Cascade, organism-specific biosystem (from REACTOME)
Toll Like Receptor 7/8 (TLR7/8) Cascade, organism-specific biosystemRNA can serve as a danger signal, both in its double-stranded form (that is associated with viral infection), as well as single-stranded RNA (ssRNA). Specifically, guanosine (G)- and uridine (U)-rich...
Toll Like Receptor 9 (TLR9) Cascade, organism-specific biosystem (from REACTOME)
Toll Like Receptor 9 (TLR9) Cascade, organism-specific biosystemCpG DNA is an unusual Pathogen-Associated Molecular Pattern (PAMP). Cytosine methylation exists in mammalian but not bacterial cells, and most (but not all) CpG in the mammalian genome is methylated....
Toll-Like Receptors Cascades, organism-specific biosystem (from REACTOME)
Toll-Like Receptors Cascades, organism-specific biosystemIn human, ten members of the Toll-like receptor (TLR) family (TLR1-TLR10) have been identified (TLR11 has been found in mouse, but not in human). All TLRs have a similar Toll/IL-1 receptor (TIR) doma...
Toll-like Receptor Signaling, organism-specific biosystem (from WikiPathways)
Toll-like Receptor Signaling, organism-specific biosystemThis pathway is based on the figure 1 of "Genetic variation in TLR or NFkappaB pathways and the risk of breast cancer: a case-control study" (see bibliography). TLR and NFkB are important in inflamma...
Toll-like Receptor Signaling Pathway, organism-specific biosystem (from WikiPathways)
Toll-like Receptor Signaling Pathway, organism-specific biosystemSpecific families of pattern recognition receptors are responsible for detecting microbial pathogens and generating innate immune responses. Toll-like receptors (TLRs) are membrane-bound receptors id...
Toll-like receptor signaling pathway, organism-specific biosystem (from KEGG)
Toll-like receptor signaling pathway, organism-specific biosystemSpecific families of pattern recognition receptors are responsible for detecting microbial pathogens and generating innate immune responses. Toll-like receptors (TLRs) are membrane-bound receptors id...
Toll-like receptor signaling pathway, conserved biosystem (from KEGG)
Toll-like receptor signaling pathway, conserved biosystemSpecific families of pattern recognition receptors are responsible for detecting microbial pathogens and generating innate immune responses. Toll-like receptors (TLRs) are membrane-bound receptors id...
Trafficking and processing of endosomal TLR, organism-specific biosystem (from REACTOME)
Trafficking and processing of endosomal TLR, organism-specific biosystemMammalian TLR3, TLR7, TLR8, TLR9 are endosomal receptors that sense nucleic acids that have been released from endocytosed/phagocytosed bacteria, viruses or parasites. These TLRs have a ligand-recogn...

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

DXS7724 (e-PCR)
- UniSTS:55568

D8S2279 (e-PCR)
- UniSTS:473907

TLR7 (e-PCR)
- UniSTS:506514

STS-N30597 (e-PCR)
- UniSTS:73630

PMC128073P8 (e-PCR)
- UniSTS:270570

Homology

Homologs of the TLR7 gene: The TLR7 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, and frog.
Orthologs from Annotation Pipeline: 209 organisms have orthologs with human gene TLR7
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
double-stranded RNA binding	IDA Inferred from Direct Assay more info	PubMed
drug binding	IEA Inferred from Electronic Annotation more info
siRNA binding	ISS Inferred from Sequence or Structural Similarity more info
signaling pattern recognition receptor activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
single-stranded RNA binding	ISS Inferred from Sequence or Structural Similarity more info
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 phosphorylation	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
innate immune response	IEA Inferred from Electronic Annotation more info
microglial cell activation	IEA Inferred from Electronic Annotation more info
positive regulation of NIK/NF-kappaB signaling	IDA Inferred from Direct Assay more info	PubMed
positive regulation of chemokine production	IDA Inferred from Direct Assay more info	PubMed
positive regulation of inflammatory response	IC Inferred by Curator 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-6 production	IBA Inferred from Biological aspect of Ancestor 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
positive regulation of interleukin-8 production	IDA Inferred from Direct Assay more info	PubMed
regulation of protein phosphorylation	IEA Inferred from Electronic Annotation more info
toll-like receptor 7 signaling pathway	IBA Inferred from Biological aspect of Ancestor 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
cytoplasm	IDA Inferred from Direct Assay more info	PubMed
early phagosome	ISS Inferred from Sequence or Structural Similarity more info
endolysosome membrane	TAS Traceable Author Statement more info
endoplasmic reticulum	ISS Inferred from Sequence or Structural Similarity more info
endoplasmic reticulum membrane	TAS Traceable Author Statement more info
endosome	ISS Inferred from Sequence or Structural Similarity more info
endosome membrane	TAS Traceable Author Statement more info
integral component of membrane	IEA Inferred from Electronic Annotation more info
lysosome	ISS Inferred from Sequence or Structural Similarity more info
plasma membrane	IBA Inferred from Biological aspect of Ancestor more info	PubMed
plasma membrane	IDA Inferred from Direct Assay more info	PubMed
receptor complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: toll-like receptor 7

Names: toll-like receptor 7-like

NCBI Reference Sequences (RefSeq)

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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

NG_012569.1 RefSeqGene

Range

5001..28279

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_016562.4 → NP_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

Q9NYK1

UniProtKB/TrEMBL

B2R9N9

Related

ENSP00000370034.3, ENST00000380659.4

Conserved Domains (6) summary

TIGR00864
Location:753 → 837

PCC; polycystin cation channel protein

smart00255
Location:890 → 993

TIR; Toll - interleukin 1 - resistance

COG4886
Location:488 → 775

LRR; Leucine-rich repeat (LRR) protein [Transcription]

sd00033
Location:496 → 518

LRR_RI; leucine-rich repeat [structural motif]

pfam13855
Location:75 → 139

LRR_8; Leucine rich repeat

cl26793
Location:191 → 711

PLN00113; leucine-rich repeat receptor-like protein kinase; Provisional