TLR1 toll like receptor 1
Gene ID: 7096, updated on 11-Apr-2024Gene type: protein coding
Also known as: TIL; CD281; rsc786; TIL. LPRS5
- See all available tests in GTR for this gene
- Go to complete Gene record for TLR1
- Go to Variation Viewer for TLR1 variants
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci. GeneReviews: Not available | |
| A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks. GeneReviews: Not available | |
| Genome-wide association analysis identifies 11 risk variants associated with the asthma with hay fever phenotype. GeneReviews: Not available | |
| Identification of genetic loci associated with Helicobacter pylori serologic status. GeneReviews: Not available | |
| Leprosy, susceptibility to, 5 | See labs |
| Meta-analysis of genome-wide association studies identifies ten loci influencing allergic sensitization. GeneReviews: Not available |
Genomic context
- Location:
- 4p14
- Sequence:
- Chromosome: 4; NC_000004.12 (38787569..38805644, complement)
- Total number of exons:
- 7
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for TLR1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- TLR1 database
- Variation ViewerRelated Variants
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