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

Gene ID: 7096, updated on 14-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
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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. A Toll-like receptor-1 variant and its characteristic cellular phenotype is associated with severe malaria in Papua New Guinean children. Manning L, et al. Genes Immun, 2016 Jan-Feb. PMID 26633000
  2. Common variants of TLR1 associate with organ dysfunction and sustained pro-inflammatory responses during sepsis. Pino-Yanes M, et al. PLoS One, 2010 Oct 29. PMID 21048935, Free PMC Article
  3. The toll-like receptor 1 variant S248N influences placental malaria. Hamann L, et al. Infect Genet Evol, 2010 Aug. PMID 20478407
  4. 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
  5. 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

See all (223) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Investigation of the association between the Toll-like receptor 1 rs4833095 variation and gastric adenocarcinoma recurrence.
    Title: Investigation of the association between the Toll-like receptor 1 rs4833095 variation and gastric adenocarcinoma recurrence.
  2. 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.
  3. 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.
  4. 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.
  5. Landscape of Cell Communication in Human Dental Pulp.
    Title: Landscape of Cell Communication in Human Dental Pulp.
  6. Are Pattern Recognition Receptors Associated with Hepatocellular Carcinoma?
    Title: Are Pattern Recognition Receptors Associated with Hepatocellular Carcinoma?
  7. 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.
  8. 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.
  9. 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.
  10. 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.
Submit: New GeneRIF Correction See all GeneRIFs (153)

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
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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)

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 microglial cell activation IEA
Inferred from Electronic Annotation
more info
  
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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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

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