TLR1 Gene (Protein Coding)

Toll Like Receptor 1

GC04M038797
GIFtS:
49
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, a... See more...

Aliases for TLR1 Gene

Aliases for TLR1 Gene

  • Toll Like Receptor 1 2 3 5
  • Toll-Like Receptor 1 2 3 4
  • Toll/Interleukin-1 Receptor-Like Protein 3 4
  • TIL 3 4
  • CD281 Antigen 4
  • TIL. LPRS5 3
  • KIAA0012 4
  • Rsc786 3
  • CD281 3

External Ids for TLR1 Gene

Previous GeneCards Identifiers for TLR1 Gene

  • GC04P039090
  • GC04M038961
  • GC04M038632
  • GC04M038695
  • GC04M038620
  • GC04M038474
  • GC04M038122

Summaries for TLR1 Gene

Entrez Gene Summary for TLR1 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 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]

GeneCards Summary for TLR1 Gene

TLR1 (Toll Like Receptor 1) is a Protein Coding gene. Diseases associated with TLR1 include Leprosy 5 and Invasive Aspergillosis. Among its related pathways are Th1 Differentiation Pathway and Toll-like Receptor Signaling Pathway. Gene Ontology (GO) annotations related to this gene include protein heterodimerization activity and transmembrane signaling receptor activity. An important paralog of this gene is TLR6.

UniProtKB/Swiss-Prot Summary for TLR1 Gene

  • 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:21078852). Forms the activation cluster TLR2:TLR1:CD14 in response to triacylated lipopeptides, this cluster triggers signaling from the cell surface and subsequently is targeted to the Golgi in a lipid-raft dependent pathway (PubMed:16880211). Acts via MYD88 and TRAF6, leading to NF-kappa-B activation, cytokine secretion and the inflammatory response.

Tocris Summary for TLR1 Gene

  • Toll-like receptors (TLRs) are single transmembrane cell-surface receptors, which have a key role in the innate immune system. TLRs generally exist as homodimers (heterodimers have been reported) and are found on immune cells; macrophages, B lymphocytes and mast cells.

Gene Wiki entry for TLR1 Gene

Additional gene information for TLR1 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TLR1 Gene

Genomics for TLR1 Gene

GeneHancer (GH) Regulatory Elements for TLR1 Gene

Promoters and enhancers for TLR1 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH04J038853 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 528.5 +0.4 379 5.7 ZBTB40 CTCF SIN3A TCF12 SP1 GTF2E2 JUND PHB2 FOS EP300 TLR6 TLR1 TLR10 FAM114A1 KLF3 KLHL5 piR-40110-530
GH04J038803 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE dbSUPER 527.2 +51.8 51829 4 ZBTB40 CTCF EP300 REST RELA MEF2C RCOR1 RAD21 TRIM22 POLR2A TLR1 TLR10 lnc-TLR1-1 piR-36393-382 TLR6 FAM114A1 MIR574 ENSG00000249685 ENSG00000249207 piR-43107-233
GH04J038785 Enhancer 1 FANTOM5 ENCODE dbSUPER 45.4 +70.7 70686 2.1 RELA BCL11A TCF12 CBFB MEF2B SPI1 BATF IRF4 EBF1 ATF2 TLR1 TLR6 FAM114A1 MIR574 KLF3 TLR10 piR-43107-233 lnc-TLR10-1
GH04J038759 Promoter/Enhancer 1.4 FANTOM5 Ensembl ENCODE 30 +94.9 94864 5.1 CTCF EP300 REST RELA MEF2C RCOR1 RAD21 TRIM22 POLR2A NFYB TLR1 TLR6 TLR10 FAM114A1 MIR574 ENSG00000271958 KLF3 RNA5SP158 piR-48965-098
GH04J038779 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE 26.4 +75.5 75488 3.5 EP300 CTCF REST RAD21 TRIM22 POLR2A SMC3 TCF12 CBFB ZNF384 TLR10 lnc-TLR10-1 TLR1 TLR6 FAM114A1 MIR574 piR-48965-098
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TLR1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TLR1

Top Transcription factor binding sites by QIAGEN in the TLR1 gene promoter:
  • AP-1
  • ATF-2
  • c-Jun
  • FOXO4
  • GATA-1
  • POU3F2 (N-Oct-5b)

Genomic Locations for TLR1 Gene

Genomic Locations for TLR1 Gene
chr4:38,787,555-38,856,817
(GRCh38/hg38)
Size:
69,263 bases
Orientation:
Minus strand
chr4:38,792,298-38,858,438
(GRCh37/hg19)
Size:
66,141 bases
Orientation:
Minus strand

Genomic View for TLR1 Gene

Genes around TLR1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TLR1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TLR1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for TLR1 Gene

Proteins for TLR1 Gene

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  • Protein details for TLR1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q15399-TLR1_HUMAN
    Recommended name:
    Toll-like receptor 1
    Protein Accession:
    Q15399
    Secondary Accessions:
    • D1CS39
    • D1CS41
    • O15452
    • Q32MK3
    • Q32MK4
    • Q9UG90

    Protein attributes for TLR1 Gene

    Size:
    786 amino acids
    Molecular mass:
    90291 Da
    Quaternary structure:
    • Interacts (via extracellular domain) with TLR2. TLR2 seems to exist in heterodimers with either TLR1 or TLR6 before stimulation by the ligand. The heterodimers form bigger oligomers in response to their corresponding ligands as well as further heterotypic associations with other receptors such as CD14 and/or CD36 (PubMed:16880211, PubMed:17889651). The activation cluster TLR2:TLR1:CD14 forms in response to triacylated lipopeptides (PubMed:16880211). Binds MYD88 (via TIR domain). Interacts with CNPY3 (By similarity).
    SequenceCaution:
    • Sequence=BAA02801.2; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for TLR1 Gene

neXtProt entry for TLR1 Gene

Protein Expression for TLR1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for TLR1 Gene

  • Glycosylation at Asn51, Asn137, Asn163, Asn330, Asn429, and Asn578
  • Modification sites at PhosphoSitePlus

Other Protein References for TLR1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for TLR1 Gene

Domains & Families for TLR1 Gene

Gene Families for TLR1 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • CD markers
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for TLR1 Gene

Blocks:
  • Cysteine-rich flanking region, C-terminal
  • TIR domain
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TLR1 Gene

GenScript: Design optimal peptide antigens:
  • Toll-like receptor (D1CS34_HUMAN)
  • Toll-like receptor (D1CS35_HUMAN)
  • Toll-like receptor (D1CS36_HUMAN)
  • Toll-like receptor (D1CS38_HUMAN)
  • Toll-like receptor (D1CS39_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q15399

UniProtKB/Swiss-Prot:

TLR1_HUMAN :
  • Belongs to the Toll-like receptor family.
Family:
  • Belongs to the Toll-like receptor family.
genes like me logo Genes that share domains with TLR1: view

Function for TLR1 Gene

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Molecular function for TLR1 Gene

UniProtKB/Swiss-Prot 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:21078852). Forms the activation cluster TLR2:TLR1:CD14 in response to triacylated lipopeptides, this cluster triggers signaling from the cell surface and subsequently is targeted to the Golgi in a lipid-raft dependent pathway (PubMed:16880211). Acts via MYD88 and TRAF6, leading to NF-kappa-B activation, cytokine secretion and the inflammatory response.
GENATLAS Biochemistry:
Drosophila transmembrane receptor Toll homolog 1,ubiquitously expressed,with at least two alternatively spliced isoforms,tissue specific,maybe involved in morphogenesis and immune defense

Phenotypes From GWAS Catalog for TLR1 Gene

Gene Ontology (GO) - Molecular Function for TLR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004888 transmembrane signaling receptor activity NAS 11081518
GO:0005515 protein binding IEA,IPI 15728506
GO:0035663 Toll-like receptor 2 binding IBA,IPI 16880211
GO:0038023 signaling receptor activity TAS 10426995
GO:0042802 identical protein binding IPI 23155421
genes like me logo Genes that share ontologies with TLR1: view
genes like me logo Genes that share phenotypes with TLR1: view

Animal Models for TLR1 Gene

MGI Knock Outs for TLR1:

Animal Model Products

CRISPR Products

miRNA for TLR1 Gene

miRTarBase miRNAs that target TLR1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TLR1

Clone Products

  • Addgene plasmids for TLR1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for TLR1 Gene

Localization for TLR1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TLR1 Gene

Cell membrane; Single-pass type I membrane protein. Cytoplasmic vesicle, phagosome membrane; Single-pass type I membrane protein. Membrane raft. Golgi apparatus. Note=Does not reside in lipid rafts before stimulation but accumulates increasingly in the raft upon the presence of the microbial ligand. In response to triacylated lipoproteins, TLR2:TLR1 heterodimers are recruited in lipid rafts, this recruitment determine the intracellular targeting to the Golgi apparatus. {ECO:0000269 PubMed:16880211}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TLR1 gene
Compartment Confidence
plasma membrane 5
golgi apparatus 5
extracellular 4
mitochondrion 3
nucleus 3
endoplasmic reticulum 3
endosome 3
cytosol 3
lysosome 3
cytoskeleton 2
peroxisome 2

Gene Ontology (GO) - Cellular Components for TLR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005794 Golgi apparatus IDA,IEA 16880211
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IBA,TAS 21873635
GO:0016020 membrane NAS 11081518
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with TLR1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for TLR1 Gene

Pathways & Interactions for TLR1 Gene

genes like me logo Genes that share pathways with TLR1: view

Pathways by source for TLR1 Gene

2 KEGG pathways for TLR1 Gene
3 GeneGo (Thomson Reuters) pathways for TLR1 Gene
  • Bacterial infections in CF airways
  • Immune response Bacterial infections in normal airways
  • Immune response TLR signaling pathways
1 Tocris pathway for TLR1 Gene
8 Qiagen pathways for TLR1 Gene
  • Colorectal Cancer Metastasis
  • NF-KappaB (p50-p65) Pathway
  • NF-KappaB Family Pathway
  • Phagocytosis of Microbes
  • Tec Kinases Signaling
1 Cell Signaling Technology pathway for TLR1 Gene
1 GeneTex pathway for TLR1 Gene

Gene Ontology (GO) - Biological Process for TLR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001775 cell activation IDA 15294986
GO:0002224 toll-like receptor signaling pathway TAS --
GO:0002376 immune system process IEA --
GO:0002755 MyD88-dependent toll-like receptor signaling pathway TAS --
GO:0006952 defense response IEA --
genes like me logo Genes that share ontologies with TLR1: view

No data available for SIGNOR curated interactions for TLR1 Gene

Drugs & Compounds for TLR1 Gene

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  1. Drug

(13) Drugs for TLR1 Gene - From: ApexBio, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Imiquimod Approved, Investigational Pharma Agonist TLR-7 agonist,immunomodulator with antiviral and antitumor activity, Toll-like receptor 7 (TLR7) agonist 162
Resiquimod Investigational Pharma Toll-like receptor 7 (TLR7) agonist 0
Pam3CSK4 Pharma TLR1/2 agonist; induces cytokine production 0
Poly(I:C) Pharma TLR3 agonist 0
RWJ 21757 Pharma Toll-like receptor 7 (TLR7) agonist 0

(2) Additional Compounds for TLR1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(5) Tocris Compounds for TLR1 Gene

Compound Action Cas Number
Imiquimod Toll-like receptor 7 (TLR7) agonist 99011-02-6
Pam3CSK4 TLR1/2 agonist; induces cytokine production 112208-00-1
Poly(I:C) TLR3 agonist 24939-03-5
Resiquimod Toll-like receptor 7 (TLR7) agonist 144875-48-9
RWJ 21757 Toll-like receptor 7 (TLR7) agonist 121288-39-9

(9) ApexBio Compounds for TLR1 Gene

Compound Action Cas Number
CU CPT 22 1416324-85-0
CU CPT 4a 1279713-77-7
Pam2CSK4 868247-72-7
Pam2CSK4 Biotin
Pam3CSK4 112208-00-1
Pam3CSK4 Biotin
Poly(I:C) 24939-03-5
RWJ 21757 121288-39-9
Toll-like receptor modulator TLR antagonist 926927-42-6
genes like me logo Genes that share compounds with TLR1: view

Drug Products

Transcripts for TLR1 Gene

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  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for TLR1 Gene

1 REFSEQ mRNAs :
22 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TLR1

Clone Products

  • Addgene plasmids for TLR1

Alternative Splicing Database (ASD) splice patterns (SP) for TLR1 Gene

ExUns: 1 ^ 2a · 2b · 2c · 2d · 2e ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b · 6c · 6d · 6e · 6f
SP1: -
SP2: - -
SP3: - -
SP4: - - - - - -
SP5: - - - -
SP6: - - -
SP7: -
SP8: - - - - -

Relevant External Links for TLR1 Gene

GeneLoc Exon Structure for
TLR1

Expression for TLR1 Gene

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  1. Primer
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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TLR1 Gene

mRNA expression in normal human tissues for TLR1 Gene
mRNA expression by GTEx for TLR1 GenemRNA expression by BioGPS for TLR1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TLR1 Gene

This gene is overexpressed in Whole Blood (x26.6).

Protein differential expression in normal tissues from HIPED for TLR1 Gene

This gene is overexpressed in Monocytes (58.7) and CD8 Tcells (10.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for TLR1 Gene



Protein tissue co-expression partners for TLR1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TLR1

SOURCE GeneReport for Unigene cluster for TLR1 Gene:

Hs.654532

mRNA Expression by UniProt/SwissProt for TLR1 Gene:

Q15399-TLR1_HUMAN
Tissue specificity: Ubiquitous. Highly expressed in spleen, ovary, peripheral blood leukocytes, thymus and small intestine.

Evidence on tissue expression from TISSUES for TLR1 Gene

  • Blood(4.6)
  • Bone marrow(4.4)
  • Liver(4.3)
  • Nervous system(4.3)
  • Spleen(2.9)
  • Lymph node(2.7)
  • Intestine(2.4)
  • Lung(2)
genes like me logo Genes that share expression patterns with TLR1: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for TLR1 Gene

Orthologs for TLR1 Gene

This gene was present in the common ancestor of animals.

Orthologs for TLR1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia TLR1 31 30
  • 99.24 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia TLR1 31 30
  • 85.54 (n)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Tlr1 30
  • 78.42 (n)
mouse
(Mus musculus)
 Mammalia Tlr1 17 31 30
  • 77.1 (n)
oppossum
(Monodelphis domestica)
 Mammalia -- 31
  • 60 (a)
 OneToMany
chicken
(Gallus gallus)
 Aves TLR1LA 31
  • 48 (a)
 ManyToMany
TLR1LB 31
  • 48 (a)
 ManyToMany
lizard
(Anolis carolinensis)
 Reptilia -- 31
  • 49 (a)
 ManyToMany
-- 31
  • 48 (a)
 ManyToMany
tropical clawed frog
(Silurana tropicalis)
 Amphibia tlr1 30
  • 54.94 (n)
zebrafish
(Danio rerio)
 Actinopterygii tlr1 31 30
  • 48.05 (n)
 OneToMany
fruit fly
(Drosophila melanogaster)
 Insecta Toll-9 31
  • 18 (a)
 OneToMany
Species where no ortholog for TLR1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • cow (Bos Taurus)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for TLR1 Gene

ENSEMBL:
Gene Tree for TLR1 (if available)
TreeFam:
Gene Tree for TLR1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TLR1: view image

Paralogs for TLR1 Gene

Paralogs for TLR1 Gene

(3) SIMAP similar genes for TLR1 Gene using alignment to 14 proteins:

  • TLR1_HUMAN
  • D1CS34_HUMAN
  • D1CS35_HUMAN
  • D1CS36_HUMAN
  • D1CS38_HUMAN
  • D1CS42_HUMAN
  • D1CS43_HUMAN
  • D1CS44_HUMAN
  • D6RA99_HUMAN
  • D6RAP2_HUMAN
  • D6RCE8_HUMAN
  • D6RF68_HUMAN
  • Q5FWG5_HUMAN
  • Q6FI64_HUMAN

Pseudogenes.org Pseudogenes for TLR1 Gene

genes like me logo Genes that share paralogs with TLR1: view

Variants for TLR1 Gene

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  1. SNP Genotyping and Copy Number Assay

Polymorphic Variants from UniProtKB/Swiss-Prot for TLR1 Gene

TLR1_HUMAN-Q15399
Genetic variations in TLR1 may influence susceptibility to or protection against contracting leprosy and define the leprosy susceptibility locus 5 [MIM:613223]. Ser-602 is a common allele in Caucasians. It is associated with impaired cell surface expression and receptor function resulting in protection against leprosy.

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TLR1 Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
711908 Benign: not provided 38,797,072(-) A/C MISSENSE_VARIANT
747589 Likely Benign: not provided 38,796,930(-) A/G SYNONYMOUS_VARIANT
767951 Benign: not provided 38,797,778(-) G/T MISSENSE_VARIANT
775216 Benign: not provided 38,798,661(-) T/C MISSENSE_VARIANT
779876 Benign: not provided 38,796,894(-) G/A SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for TLR1 Gene

Structural Variations from Database of Genomic Variants (DGV) for TLR1 Gene

Variant ID Type Subtype PubMed ID
esv3600264 CNV loss 21293372
esv3600265 CNV loss 21293372
esv3893918 CNV loss 25118596
nsv594010 CNV loss 21841781
nsv966262 CNV duplication 23825009

Variation tolerance for TLR1 Gene

Residual Variation Intolerance Score: 96.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.47; 71.62% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TLR1 Gene

Human Gene Mutation Database (HGMD)
TLR1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TLR1

SNP Genotyping and Copy Number Assay Products

Disorders for TLR1 Gene

MalaCards: The human disease database

(65) MalaCards diseases for TLR1 Gene - From: OMIM, ClinVar, GTR, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
leprosy 5
  • leprosy, susceptibility to, 5
invasive aspergillosis
  • aspergillosis invasive
lyme disease
  • bannwarth syndrome
pelvic inflammatory disease
  • pid
melioidosis
  • melioidosis, susceptibility to
- elite association - COSMIC cancer census association via MalaCards
Search TLR1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for TLR1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with TLR1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TLR1 Gene

Publications for TLR1 Gene

  1. Variants in toll-like receptors 2 and 9 influence susceptibility to pulmonary tuberculosis in Caucasians, African-Americans, and West Africans. (PMID: 19771452) Velez DR … Scott WK (Human genetics 2010) 3 23 41 54
  2. Gene polymorphisms of Toll-like and related recognition receptors in relation to the vaginal carriage of Gardnerella vaginalis and Atopobium vaginae. (PMID: 19200604) Verstraelen H … Temmerman M (Journal of reproductive immunology 2009) 3 23 41 54
  3. Genetic variation of the human urinary tract innate immune response and asymptomatic bacteriuria in women. (PMID: 20016852) Hawn TR … Hooton TM (PloS one 2009) 3 23 41 54
  4. Polymorphism N248S in the human Toll-like receptor 1 gene is related to leprosy and leprosy reactions. (PMID: 19456232) Schuring RP … Oskam L (The Journal of infectious diseases 2009) 3 4 41 54
  5. Polymorphisms of toll like receptors in the genetics of severe RSV associated diseases. (PMID: 18776592) Mailaparambil B … Heinzmann A (Disease markers 2008) 3 23 41 54

ExternalLinks

View latest publications for TLR1 gene in Mastermind

Products for TLR1 Gene

  • Addgene plasmids for TLR1

Sources for TLR1 Gene