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

Summary

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

Location:: 4p14

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (38787569..38805644, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (38758769..38775212, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (38797876..38806412, complement)

Chromosome 4 - NC_000004.12 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 Functions

What's a GeneRIF?

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.
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.
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.
Landscape of Cell Communication in Human Dental Pulp.
Title: Landscape of Cell Communication in Human Dental Pulp.
Are Pattern Recognition Receptors Associated with Hepatocellular Carcinoma?
Title: Are Pattern Recognition Receptors Associated with Hepatocellular Carcinoma?
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.
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.
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.
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.
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	Compare labs

EBI GWAS Catalog

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D4S3156 (e-PCR)
- UniSTS:24274

PMC128073P2 (e-PCR)
- UniSTS:270564

TLR1_1664.2 (e-PCR)
- UniSTS:281060

SHGC-59520 (e-PCR)
- UniSTS:71915

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

EC 3.2.2.6

XP_005262719.1

EC 3.2.2.6

XP_011512044.1

EC 3.2.2.6

XP_011512047.1

EC 3.2.2.6

XP_016864060.1

EC 3.2.2.6

XP_016864061.1

EC 3.2.2.6

XP_024309964.1

EC 3.2.2.6

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_016228.1 RefSeqGene

Range

5001..13537

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000004.12 Reference GRCh38.p14 Primary Assembly

Range

38787569..38805644 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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
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
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
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