Format

Send to:

Choose Destination

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

Gene ID: 7096, updated on 1-Jun-2020

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
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

Genomic context

See TLR1 in Genome Data Viewer
Location:
4p14
Exon count:
7
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (38791055..38806262, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (38797876..38806814, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene RNA, 5S ribosomal pseudogene 158 Neighboring gene toll like receptor 10 Neighboring gene Sharpr-MPRA regulatory region 13104 Neighboring gene toll like receptor 6 Neighboring gene family with sequence similarity 114 member A1 Neighboring gene microRNA 574

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
Leprosy 5
MedGen: C2750733 OMIM: 613223 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

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

HIV-1 interactions

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

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

Gene Ontology Provided by GOA

Function Evidence Code Pubs
NAD(P)+ nucleosidase activity IEA
Inferred from Electronic Annotation
more info
 
NAD+ nucleotidase, cyclic ADP-ribose generating IEA
Inferred from Electronic Annotation
more info
 
Toll-like receptor 2 binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Toll-like receptor 2 binding IPI
Inferred from Physical Interaction
more info
PubMed 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
lipopeptide binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
signaling receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transmembrane signaling receptor activity NAS
Non-traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
MyD88-dependent toll-like receptor signaling pathway TAS
Traceable Author Statement
more info
 
cell activation IDA
Inferred from Direct Assay
more info
PubMed 
cellular response to bacterial lipopeptide IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cellular response to triacyl bacterial lipopeptide IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cellular response to triacyl bacterial lipopeptide IDA
Inferred from Direct Assay
more info
PubMed 
detection of triacyl bacterial lipopeptide IDA
Inferred from Direct Assay
more info
PubMed 
immune response TAS
Traceable Author Statement
more info
PubMed 
inflammatory response IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
innate immune response IEA
Inferred from Electronic Annotation
more info
 
macrophage activation NAS
Non-traceable Author Statement
more info
PubMed 
positive regulation of interleukin-6 biosynthetic process ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
positive regulation of interleukin-8 secretion IGI
Inferred from Genetic Interaction
more info
PubMed 
positive regulation of toll-like receptor 2 signaling pathway IGI
Inferred from Genetic Interaction
more info
PubMed 
positive regulation of tumor necrosis factor biosynthetic process ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
signal transduction TAS
Traceable Author Statement
more info
PubMed 
toll-like receptor 1 signaling pathway IEA
Inferred from Electronic Annotation
more info
 
toll-like receptor TLR1:TLR2 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 apparatus IDA
Inferred from Direct Assay
more info
PubMed 
Toll-like receptor 1-Toll-like receptor 2 protein complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Toll-like receptor 1-Toll-like receptor 2 protein complex IDA
Inferred from Direct Assay
more info
PubMed 
integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
membrane NAS
Non-traceable Author Statement
more info
PubMed 
membrane raft IDA
Inferred from Direct Assay
more info
PubMed 
phagocytic vesicle membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

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
XP_024309965.1
XP_024309966.1
XP_024309967.1

NCBI Reference Sequences (RefSeq)

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_003263.4NP_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
    Q15399
    Related
    ENSP00000354932.2, ENST00000308979.7
    Conserved Domains (6) summary
    smart00255
    Location:636779
    TIR; Toll - interleukin 1 - resistance
    sd00031
    Location:4770
    LRR_1; leucine-rich repeat [structural motif]
    sd00033
    Location:352373
    LRR_RI; leucine-rich repeat [structural motif]
    pfam01463
    Location:553577
    LRRCT; Leucine rich repeat C-terminal domain
    pfam13855
    Location:69124
    LRR_8; Leucine rich repeat
    cl26793
    Location:352560
    PLN00113; leucine-rich repeat receptor-like protein kinase; Provisional

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

    Range
    38791055..38806262 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024454199.1XP_024309967.1  toll-like receptor 1 isoform X2

  2. XM_011513745.3XP_011512047.1  toll-like receptor 1 isoform X1

    See identical proteins and their annotated locations for XP_011512047.1

    UniProtKB/Swiss-Prot
    Q15399
    Conserved Domains (6) summary
    smart00255
    Location:636779
    TIR; Toll - interleukin 1 - resistance
    sd00031
    Location:4770
    LRR_1; leucine-rich repeat [structural motif]
    sd00033
    Location:352373
    LRR_RI; leucine-rich repeat [structural motif]
    pfam01463
    Location:553577
    LRRCT; Leucine rich repeat C-terminal domain
    pfam13855
    Location:69124
    LRR_8; Leucine rich repeat
    cl26793
    Location:352560
    PLN00113; leucine-rich repeat receptor-like protein kinase; Provisional
  3. XM_011513742.3XP_011512044.1  toll-like receptor 1 isoform X1

    See identical proteins and their annotated locations for XP_011512044.1

    UniProtKB/Swiss-Prot
    Q15399
    Conserved Domains (6) summary
    smart00255
    Location:636779
    TIR; Toll - interleukin 1 - resistance
    sd00031
    Location:4770
    LRR_1; leucine-rich repeat [structural motif]
    sd00033
    Location:352373
    LRR_RI; leucine-rich repeat [structural motif]
    pfam01463
    Location:553577
    LRRCT; Leucine rich repeat C-terminal domain
    pfam13855
    Location:69124
    LRR_8; Leucine rich repeat
    cl26793
    Location:352560
    PLN00113; leucine-rich repeat receptor-like protein kinase; Provisional
  4. XM_017008572.2XP_016864061.1  toll-like receptor 1 isoform X1

    UniProtKB/Swiss-Prot
    Q15399
    Conserved Domains (6) summary
    smart00255
    Location:636779
    TIR; Toll - interleukin 1 - resistance
    sd00031
    Location:4770
    LRR_1; leucine-rich repeat [structural motif]
    sd00033
    Location:352373
    LRR_RI; leucine-rich repeat [structural motif]
    pfam01463
    Location:553577
    LRRCT; Leucine rich repeat C-terminal domain
    pfam13855
    Location:69124
    LRR_8; Leucine rich repeat
    cl26793
    Location:352560
    PLN00113; leucine-rich repeat receptor-like protein kinase; Provisional
  5. XM_005262662.5XP_005262719.1  toll-like receptor 1 isoform X1

    See identical proteins and their annotated locations for XP_005262719.1

    UniProtKB/Swiss-Prot
    Q15399
    Conserved Domains (6) summary
    smart00255
    Location:636779
    TIR; Toll - interleukin 1 - resistance
    sd00031
    Location:4770
    LRR_1; leucine-rich repeat [structural motif]
    sd00033
    Location:352373
    LRR_RI; leucine-rich repeat [structural motif]
    pfam01463
    Location:553577
    LRRCT; Leucine rich repeat C-terminal domain
    pfam13855
    Location:69124
    LRR_8; Leucine rich repeat
    cl26793
    Location:352560
    PLN00113; leucine-rich repeat receptor-like protein kinase; Provisional
  6. XM_017008571.2XP_016864060.1  toll-like receptor 1 isoform X1

    UniProtKB/Swiss-Prot
    Q15399
    Conserved Domains (6) summary
    smart00255
    Location:636779
    TIR; Toll - interleukin 1 - resistance
    sd00031
    Location:4770
    LRR_1; leucine-rich repeat [structural motif]
    sd00033
    Location:352373
    LRR_RI; leucine-rich repeat [structural motif]
    pfam01463
    Location:553577
    LRRCT; Leucine rich repeat C-terminal domain
    pfam13855
    Location:69124
    LRR_8; Leucine rich repeat
    cl26793
    Location:352560
    PLN00113; leucine-rich repeat receptor-like protein kinase; Provisional
  7. XM_024454198.1XP_024309966.1  toll-like receptor 1 isoform X1

    Conserved Domains (6) summary
    smart00255
    Location:636779
    TIR; Toll - interleukin 1 - resistance
    sd00031
    Location:4770
    LRR_1; leucine-rich repeat [structural motif]
    sd00033
    Location:352373
    LRR_RI; leucine-rich repeat [structural motif]
    pfam01463
    Location:553577
    LRRCT; Leucine rich repeat C-terminal domain
    pfam13855
    Location:69124
    LRR_8; Leucine rich repeat
    cl26793
    Location:352560
    PLN00113; leucine-rich repeat receptor-like protein kinase; Provisional
  8. XM_024454196.1XP_024309964.1  toll-like receptor 1 isoform X1

    Conserved Domains (6) summary
    smart00255
    Location:636779
    TIR; Toll - interleukin 1 - resistance
    sd00031
    Location:4770
    LRR_1; leucine-rich repeat [structural motif]
    sd00033
    Location:352373
    LRR_RI; leucine-rich repeat [structural motif]
    pfam01463
    Location:553577
    LRRCT; Leucine rich repeat C-terminal domain
    pfam13855
    Location:69124
    LRR_8; Leucine rich repeat
    cl26793
    Location:352560
    PLN00113; leucine-rich repeat receptor-like protein kinase; Provisional
  9. XM_024454197.1XP_024309965.1  toll-like receptor 1 isoform X1

    Conserved Domains (6) summary
    smart00255
    Location:636779
    TIR; Toll - interleukin 1 - resistance
    sd00031
    Location:4770
    LRR_1; leucine-rich repeat [structural motif]
    sd00033
    Location:352373
    LRR_RI; leucine-rich repeat [structural motif]
    pfam01463
    Location:553577
    LRRCT; Leucine rich repeat C-terminal domain
    pfam13855
    Location:69124
    LRR_8; Leucine rich repeat
    cl26793
    Location:352560
    PLN00113; leucine-rich repeat receptor-like protein kinase; Provisional

RNA

  1. XR_925165.2 RNA Sequence

  2. XR_925163.2 RNA Sequence

Support Center