TLR1 (toll like receptor 1)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
7096
Gene name Gene Name - the full gene name approved by the HGNC.
Toll like receptor 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TLR1
Synonyms (NCBI Gene) Gene synonyms aliases
CD281, TIL, TIL. LPRS5, rsc786
Chromosome Chromosome number
4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
4p14
Summary Summary of gene provided in NCBI Entrez Gene.
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 func
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
SNP ID Visualize variation Clinical significance Consequence
rs4833095 T>C Risk-factor Missense variant, coding sequence variant, intron variant, non coding transcript variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(2)
miRTarBase ID miRNA Experiments Reference
MIRT018819 hsa-miR-335-5p Microarray 18185580
MIRT030134 hsa-miR-26b-5p Microarray 19088304
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(55)
GO ID Ontology Definition Evidence Reference
GO:0001774 Process Microglial cell activation IEA
GO:0002224 Process Toll-like receptor signaling pathway IBA
GO:0002224 Process Toll-like receptor signaling pathway IDA 16893894
GO:0002224 Process Toll-like receptor signaling pathway IEA
GO:0002224 Process Toll-like receptor signaling pathway ISS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
601194 11847 ENSG00000174125
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q15399
Protein name Toll-like receptor 1 (Toll/interleukin-1 receptor-like protein) (TIL) (CD antigen CD281)
Protein function Participates in the innate immune response to microbial agents. Specifically recognizes diacylated and triacylated lipopeptides. Cooperates with TLR2 to mediate the innate immune response to bacterial lipoproteins or lipopeptides (PubMed:2107885
PDB 1FYV , 2Z7X , 6NIH , 7NT7 , 7NUW , 7NUX
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13855 LRR_8 69 → 126 Leucine rich repeat Repeat
PF13855 LRR_8 445 → 502 Leucine rich repeat Repeat
PF01463 LRRCT 553 → 578 Leucine rich repeat C-terminal domain Family
PF01582 TIR 636 → 786 TIR domain Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. Highly expressed in spleen, ovary, peripheral blood leukocytes, thymus and small intestine.
Sequence 
MTSIFHFAIIFMLILQIRIQLSEESEFLVDRSKNGLIHVPKDLSQKTTILNISQNYISEL
WTSDILSLSKLRILIISHNRIQYLDISVFKFNQELEYLDLSHNKLVKISCHPTVNLKHLD
LSFNAFDALPICKEFGNMSQLKFLGLSTTHLEKSSVLPIAHLNISKVLLVLGETYGEKED
PEGLQDFNTESLHIVFPTNKEFHFILDVSVKTVANLELSNIKCVLEDNKCSYFLSILAKL
QTNPKLSNLTLNNIETTWNSFIRILQLVWHTTVWYFSISNVKLQGQLDFRDFDYSGTSLK
ALSIHQVVSDVFGFPQSYIYEIFSNMNIKNFTVSGTRMVHMLCPSKISPFLHLDFSNNLL
TDTVFENCGHLTELETLILQMNQLKELSKIAEMTTQMKSLQQLDISQNSVSYDEKKGDCS
WTKSLLSLNMSSNILTDTIFRCLPPRIKVLDLHSNKIKSIPKQVVKLEALQELNVAFNSL
TDLPGCGSFSSLSVLIIDHNSVSHPSADFFQSCQKMRSIKAGDNPFQCTCELGEFVKNID
QVSSEVLEGWPDSYKCDYPESYRGTLLKDFHMSELSCNITLLIVTIVATMLVLAVTVTSL
CSYLDLPWYLRMVCQWTQTRRRARNIPLEELQRNLQFHAFISYSGHDSFWVKNELLPNLE
KEGMQICLHERNFVPGKSIVENIITCIEKSYKSIFVLSPNFVQSEWCHYELYFAHHNLFH
EGSNSLILILLEPIPQYSIPSSYHKLKSLMARRTYLEWPKEKSKRGLFWANLRAAINIKL
TEQAKK
Sequence length 786
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Toll-like receptor signaling pathway
Tuberculosis 		  ER-Phagosome pathway
Beta defensins
MyD88:MAL(TIRAP) cascade initiated on plasma membrane
Toll Like Receptor TLR1:TLR2 Cascade
MyD88 deficiency (TLR2/4)
IRAK4 deficiency (TLR2/4)
Regulation of TLR by endogenous ligand
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (6)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Allergic Sensitization Allergic sensitization N/A N/A GWAS
Asthma Asthma (age of onset), Pediatric asthma, Age of onset of adult onset asthma, Age of onset of childhood onset asthma, Asthma (childhood onset), Asthma, Asthma (moderate or severe), Asthma onset (childhood vs adult) N/A N/A GWAS
Breast Cancer Breast cancer N/A N/A GWAS
Dermatitis Atopic dermatitis N/A N/A GWAS
Show/Hide Text Mining Associations (138)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Abdominal Pain Associate 27509981
Abscess Associate 31786695
Acute Lung Injury Associate 18635889, 21048935
Acute On Chronic Liver Failure Associate 33717119
Adenocarcinoma Associate 32345670
Adenocarcinoma of Lung Inhibit 37746997
Alcoholism Associate 34415075
Alopecia Areata Associate 23326468, 24780078
Appendicitis Associate 24336024
Arthritis Associate 22246581