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    TLR1 toll like receptor 1 [ Homo sapiens (human) ]

    Gene ID: 7096, updated on 2-Nov-2024

    Summary

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    Official Symbol
    TLR1provided by HGNC
    Official Full Name
    toll like receptor 1provided by HGNC
    Primary source
    HGNC:HGNC:11847
    See related
    Ensembl:ENSG00000174125 MIM:601194; AllianceGenome:HGNC:11847
    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
    TIL; CD281; rsc786; TIL. LPRS5
    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 ubiquitously expressed, and at higher levels than other TLR genes. Different length transcripts presumably resulting from use of alternative polyadenylation site, and/or from alternative splicing, have been noted for this gene. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in appendix (RPKM 7.0), spleen (RPKM 4.9) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TLR1 in Genome Data Viewer
    Location:
    4p14
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (38787569..38805644, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (38758769..38775212, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (38797876..38806412, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21443 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21444 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21445 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21446 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21447 Neighboring gene RNA, 5S ribosomal pseudogene 158 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_79942 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21448 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_79947 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_79956/79957 Neighboring gene toll like receptor 10 Neighboring gene Sharpr-MPRA regulatory region 13104 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21449 Neighboring gene Neanderthal introgressed variant-containing enhancers experimental_79971, experimental_79978, experimental_79983/79985 and experimental_79990 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_80014/80015 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_80021 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_80029 Neighboring gene uncharacterized LOC124900695 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21450 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21451 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21452 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_80034 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_80044 Neighboring gene toll like receptor 6 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr4:38858887-38860086 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15364 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15365 Neighboring gene family with sequence similarity 114 member A1 Neighboring gene microRNA 574

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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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    Related articles in PubMed

    1. Toll-like receptor 1 N248S polymorphism affects T helper 1 cytokine production and is associated with serum immunoglobulin E levels in Taiwanese allergic patients. Yang CA, et al. J Microbiol Immunol Infect, 2017 Feb. PMID 25825356
    2. Toll-like Receptor 1 Polymorphisms Increased the Risk of Pulmonary Tuberculosis in an Iranian Population Sample. Naderi M, et al. Biomed Environ Sci, 2016 Nov. PMID 27998389
    3. TLR1 polymorphism rs4833095 as a risk factor for IgA nephropathy in a Chinese Han population: A case-control study. Gao J, et al. Oncotarget, 2016 Dec 13. PMID 27806314, Free PMC Article
    4. Susceptibility to tuberculosis is associated with TLR1 polymorphisms resulting in a lack of TLR1 cell surface expression. Uciechowski P, et al. J Leukoc Biol, 2011 Aug. PMID 21642391
    5. Toll-like receptor 1 variation increases the risk of transplant-related mortality in hematologic malignancies. Uchino K, et al. Transpl Immunol, 2016 Sep. PMID 27369862

    See all (222) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Correlation of polymorphism in Toll-Like Receptor (TLR1 and TLR2) genes with susceptibility of pulmonary tuberculosis in Doda region of India.
      Title: Correlation of polymorphism in Toll-Like Receptor (TLR1 and TLR2) genes with susceptibility of pulmonary tuberculosis in Doda region of India.
    2. A novel missense compound heterozygous variant in TLR1 gene is associated with susceptibility to rheumatoid arthritis - structural perspective and functional annotations.
      Title: A novel missense compound heterozygous variant in TLR1 gene is associated with susceptibility to rheumatoid arthritis - structural perspective and functional annotations.
    3. Toll-Like Receptor 1 Locus Re-examined in a Genome-Wide Association Study Update on Anti-Helicobacter pylori IgG Titers.
      Title: Toll-Like Receptor 1 Locus Re-examined in a Genome-Wide Association Study Update on Anti-Helicobacter pylori IgG Titers.
    4. Landscape of Cell Communication in Human Dental Pulp.
      Title: Landscape of Cell Communication in Human Dental Pulp.
    5. Are Pattern Recognition Receptors Associated with Hepatocellular Carcinoma?
      Title: Are Pattern Recognition Receptors Associated with Hepatocellular Carcinoma?
    6. Modulation of Toll-like receptor 1 intracellular domain structure and activity by Zn(2+) ions.
      Title: Modulation of Toll-like receptor 1 intracellular domain structure and activity by Zn(2+) ions.
    7. Toll-like receptor 1 as a possible target in non-alcoholic fatty liver disease.
      Title: Toll-like receptor 1 as a possible target in non-alcoholic fatty liver disease.
    8. Association of Immune and Inflammatory Gene Polymorphism With the Risk of IgA Nephropathy: A Systematic Review and Meta-Analysis of 45 Studies.
      Title: Association of Immune and Inflammatory Gene Polymorphism With the Risk of IgA Nephropathy: A Systematic Review and Meta-Analysis of 45 Studies.
    9. Altered tonsillar toll-like receptor (TLR)-1 and TLR-2 expression levels between periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis (PFAPA), and group A beta-hemolytic streptococcal (GAbetaHS) recurrent tonsillitis patients.
      Title: Altered tonsillar toll-like receptor (TLR)-1 and TLR-2 expression levels between periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis (PFAPA), and group A beta-hemolytic streptococcal (GAβHS) recurrent tonsillitis patients.
    10. Toll-like receptor 1 and 10 variations increase asthma risk and review highlights further research directions.
      Title: Toll-like receptor 1 and 10 variations increase asthma risk and review highlights further research directions.
    Submit: New GeneRIF Correction See all GeneRIFs (152)

    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

    Associated conditions

    Description Tests
    Leprosy, susceptibility to, 5
    MedGen: C2750733 OMIM: 613223 GeneReviews: Not available
    		not available

    EBI GWAS Catalog

    Description
    A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci.
    EBI GWAS Catalog
    A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks.
    EBI GWAS Catalog
    Genome-wide association analysis identifies 11 risk variants associated with the asthma with hay fever phenotype.
    EBI GWAS Catalog
    Identification of genetic loci associated with Helicobacter pylori serologic status.
    EBI GWAS Catalog
    Meta-analysis of genome-wide association studies identifies ten loci influencing allergic sensitization.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env HIV-1 gp120 upregulates the expression of toll-like receptor 1 (TLR1) in human B cells PubMed
    Envelope transmembrane glycoprotein gp41 env HIV-1 gp41 binds TLR1 (from TZM-bl-2 cell lysates) PubMed
    env Exposure of TLR2 transgene cell lines (TZM-bl-2, HEK293-TLR2/1, HEK293-TLR2/6) to HIV-1 gp41 increases IL-8 production PubMed
    matrix gag HIV-1 MA (p17) binds TLR1 (from TZM-bl-2 cell lysates) PubMed
    gag Exposure of TLR2 transgene cell lines (TZM-bl-2, HEK293-TLR2/1, HEK293-TLR2/6) to HIV-1 MA (p17) increases the production of IL-8 PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA0012, MGC104956, MGC126311, MGC126312, DKFZp547I0610, DKFZp564I0682

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables NAD+ nucleotidase, cyclic ADP-ribose generating IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables Toll-like receptor 2 binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables Toll-like receptor 2 binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables lipopeptide binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables signaling receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables transmembrane signaling receptor activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cellular response to triacyl bacterial lipopeptide IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within cellular response to triacyl bacterial lipopeptide IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in cellular response to triacyl bacterial lipopeptide IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    acts_upstream_of_or_within detection of triacyl bacterial lipopeptide IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in immune response TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in inflammatory response IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in innate immune response NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in macrophage activation NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in positive regulation of interleukin-6 production ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    involved_in positive regulation of interleukin-8 production IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in positive regulation of toll-like receptor 2 signaling pathway IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in positive regulation of tumor necrosis factor production ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    involved_in signal transduction TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in toll-like receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in toll-like receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in toll-like receptor signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of Toll-like receptor 1-Toll-like receptor 2 protein complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of Toll-like receptor 1-Toll-like receptor 2 protein complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of Toll-like receptor 1-Toll-like receptor 2 protein complex IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    located_in membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in membrane raft IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in phagocytic vesicle membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  
    part_of receptor complex IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    toll-like receptor 1
    Names
    toll/interleukin-1 receptor-like protein
    NP_003254.2
    XP_005262719.1
    XP_011512044.1
    XP_011512047.1
    XP_016864060.1
    XP_016864061.1
    XP_024309964.1

    NCBI Reference Sequences (RefSeq)

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    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_016228.1 RefSeqGene

      Range
      5001..13537
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_003263.4 → NP_003254.2  toll-like receptor 1 precursor

      See identical proteins and their annotated locations for NP_003254.2

      Status: REVIEWED

      Source sequence(s)
      AL050262, AW408740, BU623316, D13637
      Consensus CDS
      CCDS33973.1
      UniProtKB/Swiss-Prot
      D1CS39, D1CS41, O15452, Q15399, Q32MK3, Q32MK4, Q9UG90
      UniProtKB/TrEMBL
      A8KAB7, D1CS34
      Related
      ENSP00000354932.2, ENST00000308979.7
      Conserved Domains (6) summary
      smart00255
      Location:636 → 779
      TIR; Toll - interleukin 1 - resistance
      sd00031
      Location:47 → 70
      LRR_1; leucine-rich repeat [structural motif]
      sd00033
      Location:352 → 373
      LRR_RI; leucine-rich repeat [structural motif]
      pfam01463
      Location:553 → 577
      LRRCT; Leucine rich repeat C-terminal domain
      pfam13855
      Location:69 → 124
      LRR_8; Leucine rich repeat
      cl26793
      Location:352 → 560
      PLN00113; leucine-rich repeat receptor-like protein kinase; Provisional

    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_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      38787569..38805644 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017008571.3 → XP_016864060.1  toll-like receptor 1 isoform X1

      UniProtKB/Swiss-Prot
      D1CS39, D1CS41, O15452, Q15399, Q32MK3, Q32MK4, Q9UG90
      UniProtKB/TrEMBL
      A8KAB7, D1CS34
      Conserved Domains (6) summary
      smart00255
      Location:636 → 779
      TIR; Toll - interleukin 1 - resistance
      sd00031
      Location:47 → 70
      LRR_1; leucine-rich repeat [structural motif]
      sd00033
      Location:352 → 373
      LRR_RI; leucine-rich repeat [structural motif]
      pfam01463
      Location:553 → 577
      LRRCT; Leucine rich repeat C-terminal domain
      pfam13855
      Location:69 → 124
      LRR_8; Leucine rich repeat
      cl26793
      Location:352 → 560
      PLN00113; leucine-rich repeat receptor-like protein kinase; Provisional

    2. XM_011513745.4 → XP_011512047.1  toll-like receptor 1 isoform X1

      See identical proteins and their annotated locations for XP_011512047.1

      UniProtKB/Swiss-Prot
      D1CS39, D1CS41, O15452, Q15399, Q32MK3, Q32MK4, Q9UG90
      UniProtKB/TrEMBL
      A8KAB7, D1CS34
      Conserved Domains (6) summary
      smart00255
      Location:636 → 779
      TIR; Toll - interleukin 1 - resistance
      sd00031
      Location:47 → 70
      LRR_1; leucine-rich repeat [structural motif]
      sd00033
      Location:352 → 373
      LRR_RI; leucine-rich repeat [structural motif]
      pfam01463
      Location:553 → 577
      LRRCT; Leucine rich repeat C-terminal domain
      pfam13855
      Location:69 → 124
      LRR_8; Leucine rich repeat
      cl26793
      Location:352 → 560
      PLN00113; leucine-rich repeat receptor-like protein kinase; Provisional

    3. XM_011513742.4 → XP_011512044.1  toll-like receptor 1 isoform X1

      See identical proteins and their annotated locations for XP_011512044.1

      UniProtKB/Swiss-Prot
      D1CS39, D1CS41, O15452, Q15399, Q32MK3, Q32MK4, Q9UG90
      UniProtKB/TrEMBL
      A8KAB7, D1CS34
      Conserved Domains (6) summary
      smart00255
      Location:636 → 779
      TIR; Toll - interleukin 1 - resistance
      sd00031
      Location:47 → 70
      LRR_1; leucine-rich repeat [structural motif]
      sd00033
      Location:352 → 373
      LRR_RI; leucine-rich repeat [structural motif]
      pfam01463
      Location:553 → 577
      LRRCT; Leucine rich repeat C-terminal domain
      pfam13855
      Location:69 → 124
      LRR_8; Leucine rich repeat
      cl26793
      Location:352 → 560
      PLN00113; leucine-rich repeat receptor-like protein kinase; Provisional

    4. XM_017008572.3 → XP_016864061.1  toll-like receptor 1 isoform X1

      UniProtKB/Swiss-Prot
      D1CS39, D1CS41, O15452, Q15399, Q32MK3, Q32MK4, Q9UG90
      UniProtKB/TrEMBL
      A8KAB7, D1CS34
      Conserved Domains (6) summary
      smart00255
      Location:636 → 779
      TIR; Toll - interleukin 1 - resistance
      sd00031
      Location:47 → 70
      LRR_1; leucine-rich repeat [structural motif]
      sd00033
      Location:352 → 373
      LRR_RI; leucine-rich repeat [structural motif]
      pfam01463
      Location:553 → 577
      LRRCT; Leucine rich repeat C-terminal domain
      pfam13855
      Location:69 → 124
      LRR_8; Leucine rich repeat
      cl26793
      Location:352 → 560
      PLN00113; leucine-rich repeat receptor-like protein kinase; Provisional

    5. XM_005262662.6 → XP_005262719.1  toll-like receptor 1 isoform X1

      See identical proteins and their annotated locations for XP_005262719.1

      UniProtKB/Swiss-Prot
      D1CS39, D1CS41, O15452, Q15399, Q32MK3, Q32MK4, Q9UG90
      UniProtKB/TrEMBL
      A8KAB7, D1CS34
      Conserved Domains (6) summary
      smart00255
      Location:636 → 779
      TIR; Toll - interleukin 1 - resistance
      sd00031
      Location:47 → 70
      LRR_1; leucine-rich repeat [structural motif]
      sd00033
      Location:352 → 373
      LRR_RI; leucine-rich repeat [structural motif]
      pfam01463
      Location:553 → 577
      LRRCT; Leucine rich repeat C-terminal domain
      pfam13855
      Location:69 → 124
      LRR_8; Leucine rich repeat
      cl26793
      Location:352 → 560
      PLN00113; leucine-rich repeat receptor-like protein kinase; Provisional

    6. XM_024454196.2 → XP_024309964.1  toll-like receptor 1 isoform X1

      UniProtKB/Swiss-Prot
      D1CS39, D1CS41, O15452, Q15399, Q32MK3, Q32MK4, Q9UG90
      UniProtKB/TrEMBL
      A8KAB7, D1CS34
      Conserved Domains (6) summary
      smart00255
      Location:636 → 779
      TIR; Toll - interleukin 1 - resistance
      sd00031
      Location:47 → 70
      LRR_1; leucine-rich repeat [structural motif]
      sd00033
      Location:352 → 373
      LRR_RI; leucine-rich repeat [structural motif]
      pfam01463
      Location:553 → 577
      LRRCT; Leucine rich repeat C-terminal domain
      pfam13855
      Location:69 → 124
      LRR_8; Leucine rich repeat
      cl26793
      Location:352 → 560
      PLN00113; leucine-rich repeat receptor-like protein kinase; Provisional

    RNA

    1. XR_007057954.1 RNA Sequence

    2. XR_007057953.1 RNA Sequence

    3. XR_925165.3 RNA Sequence

    4. XR_925163.3 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      38758769..38775212 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_008487026.1 RNA Sequence

    2. XR_008487027.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q15399.3 GenPept UniProtKB/Swiss-Prot:Q15399

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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