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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
External Ids for TLR1 Gene
- HGNC: 11847
- NCBI Entrez Gene: 7096
- Ensembl: ENSG00000174125
- OMIM®: 601194
- UniProtKB/Swiss-Prot: Q15399
Previous GeneCards Identifiers for TLR1 Gene
- GC04P039090
- GC04M038961
- GC04M038632
- GC04M038695
- GC04M038620
- GC04M038474
- GC04M038122
Summaries 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 Leprosy 3. Among its related pathways are Phagocytosis of Microbes and Bacterial infections in CF airways. 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.
-
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.
Additional gene information for TLR1 Gene
- HGNC (11847)
- NCBI Entrez Gene (7096)
- Ensembl (ENSG00000174125)
- OMIM® (601194)
- UniProtKB/Swiss-Prot (Q15399)
- Open Targets Platform(ENSG00000174125)
- Monarch Initiative
- Search for TLR1 at DataMed
- Search for TLR1 at HumanCyc
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 Pubs
Promoters and enhancers for TLR1 Gene
- 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 the GeneHancer Hub at the UCSC Golden Path
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
Latest Assembly
- chr4:38,790,677-38,856,817
- (GRCh38/hg38)
- Size:
- 66,141 bases
- Orientation:
- Minus strand
Previous Assembly
- chr4:38,797,876-38,806,412
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 8,537 bases
- Orientation:
- Minus strand
- chr4:38,792,298-38,858,438
- (GRCh37/hg19 by Ensembl)
- 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:
-
- 4p14 by HGNC
- 4p14 by Entrez Gene
- 4p14 by Ensembl
TLR1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for TLR1 Gene
Proteins for TLR1 Gene
-
Protein details for TLR1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q15399-TLR1_HUMAN
- Recommended name:
- Toll-like receptor 1
- Protein Accession:
- Q15399
- 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};
Protein Expression for TLR1 Gene
Post-translational modifications for TLR1 Gene
Other Protein References for TLR1 Gene
Antibodies for research
- LifeSpan BioSciences TLR1 Antibody (LS-B1415) and TLR1 Antibody (LS-B6499)
- G Biosciences Immunotag™ TLR1 Antibody
- NSJ Bioreagents TLR1 Antibody
- BioLegend CD281 (TLR1) Antibody (334504) and CD281 (TLR1) Antibody (334502)
- Novus Biologicals Antibodies for TLR1
- Invitrogen Antibodies for TLR1 (AFLGC-TLR1)
- antibodies-online: Show 118 available TLR1 Antibodies ranked by validation data
- Compare Top TLR1 Antibodies
-
Recommended
- 111 WB Antibodies (anti-human)
- 39 FACS Antibodies (anti-human)
- 12 IF (p) Antibodies (anti-human)
- 10 IHC (p) Antibodies (anti-human)
- 4 IHC Antibodies (anti-human)
- 1 Func Antibody (anti-human)
- 71 WB Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 4 FACS Antibodies (anti-mouse)
- 4 IHC Antibodies (anti-mouse)
- 2 IHC (p) Antibodies (anti-mouse)
- 24 WB Antibodies (anti-rat)
- 12 IF (p) Antibodies (anti-rat)
- 4 IHC Antibodies (anti-rat)
- 2 IHC (p) Antibodies (anti-rat)
- 1 FACS Antibody (anti-rat)
-
Boster Bio Antibodies for TLR1
-
Santa Cruz Biotechnology (SCBT) Antibodies for TLR1
Protein products for research
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for TLR1
- Origene Custom Protein Services for TLR1
- Novus Biologicals lysates for TLR1
-
Abcam proteins for TLR1
Assay products for research
- RayBiotech Custom Human TLR1 ELISA
-
Custom Assay ServicesOriGene ELISA Kits for TLR1
-
Boster Bio ELISA Kits for TLR1
-
Abcam assays for TLR1
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
- InterPro:
- Blocks:
-
- Cysteine-rich flanking region, C-terminal
- TIR domain
- 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
Q15399UniProtKB/Swiss-Prot:
TLR1_HUMAN :- The TIR domain mediates NAD(+) hydrolase (NADase) activity. Self-association of TIR domains is required for NADase activity.
- Belongs to the Toll-like receptor family.
- Domain:
-
- The TIR domain mediates NAD(+) hydrolase (NADase) activity. Self-association of TIR domains is required for NADase activity.
- Family:
-
- Belongs to the Toll-like receptor family.
Function for TLR1 Gene
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.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=H2O + NAD(+) = ADP-D-ribose + H(+) + nicotinamide; Xref=Rhea:RHEA:16301, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:17154, ChEBI:CHEBI:57540, ChEBI:CHEBI:57967; EC=3.2.2.6; Evidence={ECO:0000255|PROSITE-ProRule:PRU00204};.
- 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
Enzyme Numbers (IUBMB) for TLR1 Gene
Phenotypes From GWAS Catalog for TLR1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004888 | transmembrane signaling receptor activity | NAS | 11081518 |
| GO:0005515 | protein binding | IPI | 15728506 |
| GO:0016787 | hydrolase activity | IEA | -- |
| GO:0035663 | Toll-like receptor 2 binding | IBA,IPI | 16880211 |
| GO:0038023 | signaling receptor activity | TAS,IBA | 21873635 |
Phenotypes for TLR1 Gene
- MGI mutant phenotypes for TLR1:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for TLR1:
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for TLR1 - Starting at $85 >
- * TLR1 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for TLR1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for TLR1
-
Santa Cruz Biotechnology (SCBT) CRISPR for TLR1
miRNA for TLR1 Gene
- miRTarBase miRNAs that target TLR1
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for TLR1
- Browse OriGene Inhibitory RNA Products For TLR1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TLR1
Clone products for research
- Applied Biological Materials (abm): Clones for TLR1 - Starting at $45 >
- * TLR1 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for TLR1
- Addgene plasmids for TLR1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for TLR1
Cell Lines for research
-
Horizon Cell Lines for TLR1
No data available for 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}.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| golgi apparatus | 5 |
| extracellular | 3 |
| nucleus | 3 |
| endoplasmic reticulum | 3 |
| endosome | 3 |
| cytosol | 3 |
| cytoskeleton | 2 |
| mitochondrion | 2 |
| peroxisome | 2 |
| lysosome | 2 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005794 | Golgi apparatus | IEA,IDA | 16880211 |
| GO:0005886 | plasma membrane | TAS | -- |
| GO:0005887 | integral component of plasma membrane | TAS,IBA | 21873635 |
| GO:0016020 | membrane | NAS | 11081518 |
| GO:0016021 | integral component of membrane | IEA | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for TLR1 Gene
Pathways & Interactions for TLR1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Activated TLR4 signalling | ||
| 2 | Diseases associated with the TLR signaling cascade | ||
| 3 | Toll-like Receptor Signaling Pathway | ||
| 4 | Toll-Like receptor Signaling Pathways | ||
| 5 | Defensins |
.81
.81
|
|
Pathways by source for TLR1 Gene
5 BioSystems pathways for TLR1 Gene
22 Reactome pathways 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
Interacting Proteins for TLR1 Gene
Selected Interacting proteins:
Q15399-TLR1_HUMAN
ENSP00000354932
for TLR1 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for TLR1
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001774 | microglial cell activation | IEA | -- |
| 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 | -- |
No data available for SIGNOR curated interactions for TLR1 Gene
Drugs & Compounds for TLR1 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Imiquimod | Approved, Investigational | Pharma | TLR-7 agonist,immunomodulator with antiviral and antitumor activity, Toll-like receptor 7 (TLR7) agonist | 163 | ||
| 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 |
| 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 |
(8) 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 | |
| Poly(I:C) | 24939-03-5 | |
| RWJ 21757 | 121288-39-9 | |
| Toll-like receptor modulator | TLR antagonist | 926927-42-6 |
Transcripts for TLR1 Gene
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 :
-
- ENST00000308979 2851 nts (view in UCSC)
- ENST00000502213 2779 nts (view in UCSC)
- ENST00000505744 619 nts (view in UCSC)
- ENST00000505940 648 nts (view in UCSC)
- ENST00000506146 555 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for TLR1 - Starting at $85 >
- * TLR1 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for TLR1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for TLR1
-
Santa Cruz Biotechnology (SCBT) CRISPR for TLR1
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for TLR1
- Browse OriGene Inhibitory RNA Products For TLR1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TLR1
Clone products for research
- Applied Biological Materials (abm): Clones for TLR1 - Starting at $45 >
- * TLR1 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for TLR1
- Addgene plasmids for TLR1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for TLR1
| 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
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Blood (Hematopoietic System)
- Granulocytes Peripheral Blood
- Monocytes Peripheral Blood
- Hematopoietic Stem Cells Aorta-Gonad-Mesonephros
- Conventional Dendritic Cells II Spleen
-
Lateral Plate Mesoderm (Gastrulation Derivatives)
- Hematopoietic Stem Cells Aorta-Gonad-Mesonephros
- Spleen (Hematopoietic System)
mRNA differential expression in normal tissues according to GTEx for TLR1 Gene
This gene is overexpressed in Whole Blood (x26.6).
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
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TLR1
SOURCE GeneReport for Unigene cluster for TLR1 Gene:
Hs.654532mRNA 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(4.7)
- Bone marrow(4.6)
- Nervous system(4.5)
- Liver(4.5)
- Spleen(3.2)
- Lymph node(3.1)
- Intestine(2.9)
- Lung(2.5)
- Heart(2.4)
- Kidney(2.3)
- Skin(2.1)
- Stomach(2)
Primer products for research
-
OriGene qPCR primer pairs for TLR1
Gene Expression Assays for research
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | TLR1 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | TLR1 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Tlr1 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Tlr1 30 17 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
| Chicken (Gallus gallus) |
Aves | TLR1LA 31 |
|
ManyToMany | |
| TLR1LB 31 |
|
ManyToMany | |||
| Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
ManyToMany | |
| -- 31 |
|
ManyToMany | |||
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | tlr1 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | tlr1 30 31 |
|
OneToMany | |
| Fruit Fly (Drosophila melanogaster) |
Insecta | Toll-9 31 |
|
OneToMany |
- Species where no ortholog for TLR1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (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
Variants for TLR1 Gene
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 |
|---|---|---|---|---|---|
| rs137853170 | Not Provided: not provided. - | 38,798,608(-) |
A/Gp.Ile75Thr NM_003263.4(TLR1):c.224T>C (p.Ile75Thr) |
MISSENSE | |
| rs137853171 | Not Provided: not provided. - | 38,797,454(-) |
T/Cp.Ile460Val NM_003263.4(TLR1):c.1378A>G (p.Ile460Val) |
MISSENSE | |
| rs137853172 | Benign: not provided. - | 38,797,207(-) |
A/Gp.Val542Ala NM_003263.4(TLR1):c.1625T>C (p.Val542Ala) |
MISSENSE | |
| rs137853173 | Not Provided: not provided. - | 38,797,171(-) |
T/Cp.Tyr554Cys NM_003263.4(TLR1):c.1661A>G (p.Tyr554Cys) |
MISSENSE | |
| rs137853174 | Not Provided: not provided. - | 38,796,880(-) |
A/Gp.Val651Ala NM_003263.4(TLR1):c.1952T>C (p.Val651Ala) |
MISSENSE |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| 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 |
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
SNP Genotyping and Copy Number Assays for research
Disorders for TLR1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| leprosy 5 |
|
|
| leprosy 3 |
|
|
| lyme disease |
|
|
| invasive aspergillosis |
|
|
| pelvic inflammatory disease |
|
|
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
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for TLR1 Gene
Publications for TLR1 Gene
- 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 74
- Human TLR1 deficiency is associated with impaired mycobacterial signaling and protection from leprosy reversal reaction. (PMID: 18461142) Misch EA … Hawn TR (PLoS neglected tropical diseases 2008) 3 23 41 74
- 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
- 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
- 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
ExternalLinks
Products for TLR1 Gene
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Sources for TLR1 Gene
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