Human Gene TLR1 (ENST00000308979.7_8) from GENCODE V47lift37
  Description: toll like receptor 1 (from RefSeq NM_003263.4)
Gencode Transcript: ENST00000308979.7_8
Gencode Gene: ENSG00000174125.9_12
Transcript (Including UTRs)
   Position: hg19 chr4:38,797,876-38,806,412 Size: 8,537 Total Exon Count: 4 Strand: -
Coding Region
   Position: hg19 chr4:38,798,092-38,800,452 Size: 2,361 Coding Exon Count: 1 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr4:38,797,876-38,806,412)mRNA (may differ from genome)Protein (786 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: TLR1_HUMAN
DESCRIPTION: RecName: Full=Toll-like receptor 1; AltName: Full=Toll/interleukin-1 receptor-like protein; Short=TIL; AltName: CD_antigen=CD281; Flags: Precursor;
FUNCTION: Participates in the innate immune response to microbial agents. Cooperates with TLR2 to mediate the innate immune response to bacterial lipoproteins or lipopeptides. Acts via MYD88 and TRAF6, leading to NF-kappa-B activation, cytokine secretion and the inflammatory response (By similarity).
SUBUNIT: Binds MYD88 (via TIR domain). Interacts with CNPY3 (By similarity). Interacts (via extracellular domain) with TLR2. Ligand binding induces the formation of a heterodimer with TLR2.
SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein (By similarity). Cytoplasmic vesicle, phagosome membrane; Single-pass type I membrane protein (By similarity).
TISSUE SPECIFICITY: Ubiquitous. Highly expressed in spleen, ovary, peripheral blood leukocytes, thymus and small intestine.
POLYMORPHISM: 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.
SIMILARITY: Belongs to the Toll-like receptor family.
SIMILARITY: Contains 12 LRR (leucine-rich) repeats.
SIMILARITY: Contains 1 LRRCT domain.
SIMILARITY: Contains 1 TIR domain.
SEQUENCE CAUTION: Sequence=BAA02801.2; Type=Erroneous initiation;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: TLR1
Diseases sorted by gene-association score: leprosy 5* (575), lyme disease (13), leprosy (12), melioidosis (11), pelvic inflammatory disease (11), penicilliosis (10), ocular toxoplasmosis (10), neurosyphilis (10), invasive aspergillosis (8), irak4 deficiency (7), myd88 deficiency (7), mycobacterium abscessus (7), filariasis (7), bacteriuria (7), q fever (7), bronchiolitis (5), tuberculosis (5)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 15.93 RPKM in Whole Blood
Total median expression: 65.21 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -69.30274-0.253 Picture PostScript Text
3' UTR -35.40216-0.164 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000483 - Cys-rich_flank_reg_C
IPR004075 - IL1_rcpt_1
IPR001611 - Leu-rich_rpt
IPR000157 - TIR_dom
IPR017241 - Toll-like_receptor

Pfam Domains:
PF01463 - Leucine rich repeat C-terminal domain
PF01582 - TIR domain
PF13676 - TIR domain
PF13855 - Leucine rich repeat

SCOP Domains:
52047 - RNI-like
52058 - L domain-like
52075 - Outer arm dynein light chain 1
52200 - Toll/Interleukin receptor TIR domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1FYV - X-ray MuPIT 2Z7X - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q15399
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details Gene Details  
Gene SorterGene Sorter Gene Sorter  
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004888 transmembrane signaling receptor activity
GO:0005515 protein binding
GO:0035663 Toll-like receptor 2 binding
GO:0038023 signaling receptor activity
GO:0046982 protein heterodimerization activity
GO:0071723 lipopeptide binding

Biological Process:
GO:0001775 cell activation
GO:0002224 toll-like receptor signaling pathway
GO:0002376 immune system process
GO:0002755 MyD88-dependent toll-like receptor signaling pathway
GO:0006952 defense response
GO:0006954 inflammatory response
GO:0006955 immune response
GO:0007165 signal transduction
GO:0034130 toll-like receptor 1 signaling pathway
GO:0034137 positive regulation of toll-like receptor 2 signaling pathway
GO:0038123 toll-like receptor TLR1:TLR2 signaling pathway
GO:0042116 macrophage activation
GO:0042495 detection of triacyl bacterial lipopeptide
GO:0042535 positive regulation of tumor necrosis factor biosynthetic process
GO:0042742 defense response to bacterium
GO:0045087 innate immune response
GO:0045410 positive regulation of interleukin-6 biosynthetic process
GO:0050707 regulation of cytokine secretion
GO:0071727 cellular response to triacyl bacterial lipopeptide
GO:2000484 positive regulation of interleukin-8 secretion

Cellular Component:
GO:0005794 Golgi apparatus
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030670 phagocytic vesicle membrane
GO:0031410 cytoplasmic vesicle
GO:0035354 Toll-like receptor 1-Toll-like receptor 2 protein complex
GO:0045121 membrane raft


-  Descriptions from all associated GenBank mRNAs
  LP895496 - Sequence 360 from Patent EP3253886.
D13637 - Homo sapiens KIAA0012 mRNA.
BC089403 - Homo sapiens toll-like receptor 1, mRNA (cDNA clone MGC:104956 IMAGE:3063206), complete cds.
AL050262 - Homo sapiens mRNA; cDNA DKFZp564I0682 (from clone DKFZp564I0682).
CR533562 - Homo sapiens full open reading frame cDNA clone RZPDo834F1121D for gene TLR1, toll-like receptor 1; complete cds, incl. stopcodon.
BC109093 - Homo sapiens toll-like receptor 1, mRNA (cDNA clone MGC:126311 IMAGE:40034681), complete cds.
BC109094 - Homo sapiens toll-like receptor 1, mRNA (cDNA clone MGC:126312 IMAGE:40034683), complete cds.
AK292982 - Homo sapiens cDNA FLJ78624 complete cds, highly similar to Homo sapiens toll-like receptor 1 (TLR1), mRNA.
AB445617 - Homo sapiens TLR1 mRNA for toll-like receptor 1, complete cds.
DQ012254 - Homo sapiens toll-like receptor 1 (TLR1) mRNA, TLR1-1 allele, complete cds.
DQ012255 - Homo sapiens toll-like receptor 1 (TLR1) mRNA, TLR1-2 allele, complete cds.
DQ012256 - Homo sapiens toll-like receptor 1 (TLR1) mRNA, TLR1-3 allele, complete cds.
DQ012257 - Homo sapiens toll-like receptor 1 (TLR1) mRNA, TLR1-4 allele, complete cds.
DQ012258 - Homo sapiens toll-like receptor 1 (TLR1) mRNA, TLR1-5 allele, complete cds.
DQ012259 - Homo sapiens toll-like receptor 1 (TLR1) mRNA, TLR1-6 allele, complete cds.
DQ012260 - Homo sapiens toll-like receptor 1 (TLR1) mRNA, TLR1-7 allele, complete cds.
DQ012261 - Homo sapiens toll-like receptor 1 (TLR1) mRNA, TLR1-8 allele, complete cds.
DQ012262 - Homo sapiens toll-like receptor 1 (TLR1) mRNA, TLR1-9 allele, complete cds.
DQ012263 - Homo sapiens toll-like receptor 1 (TLR1) mRNA, TLR1-10 allele, complete cds.
DQ012264 - Homo sapiens toll-like receptor 1 (TLR1) mRNA, TLR1-11 allele, complete cds.
U88540 - Homo sapiens Toll-like receptor 1 (TLR1) mRNA, complete cds.
KJ892284 - Synthetic construct Homo sapiens clone ccsbBroadEn_01678 TLR1 gene, encodes complete protein.
KJ897679 - Synthetic construct Homo sapiens clone ccsbBroadEn_07073 TLR1 gene, encodes complete protein.
KR711988 - Synthetic construct Homo sapiens clone CCSBHm_00034502 TLR1 (TLR1) mRNA, encodes complete protein.
KR711989 - Synthetic construct Homo sapiens clone CCSBHm_00034503 TLR1 (TLR1) mRNA, encodes complete protein.
KR711990 - Synthetic construct Homo sapiens clone CCSBHm_00034504 TLR1 (TLR1) mRNA, encodes complete protein.
AB463313 - Synthetic construct DNA, clone: pF1KA0012, Homo sapiens TLR1 gene for toll-like receptor 1, without stop codon, in Flexi system.
JD038831 - Sequence 19855 from Patent EP1572962.
JD501772 - Sequence 482796 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q15399 (Reactome details) participates in the following event(s):

R-HSA-168951 TLR1:TLR2 is recruited to ligand:CD14
R-HSA-1974676 Beta defensin 103 activates TLR1:TLR2
R-HSA-5432814 SFTPA/SFTPD binds TLR2:TLR1
R-HSA-2201316 Activated TLR2/4 interacts with MAL(TIRAP)
R-HSA-166072 MyD88 forms a complex with MAL:activated TLR2/4
R-HSA-2201322 MAL is phosphorylated by BTK
R-HSA-2559414 Activated TLR2/4:MAL interacts with BTK
R-HSA-937079 MyD88 oligomerization within the complex of activated TLR:Mal:MyD88
R-HSA-166082 IRAK4 binds to the activated TLR receptor:Mal:MyD88 complex
R-HSA-937022 IRAK4 autophosphorylation in the complex with activated TLR:MyD88:Mal
R-HSA-166091 IRAK1 or IRAK2 binds to the activated IRAK4 :activated TLR:MyD88:Mal complex
R-HSA-166362 Dissociation of hp-IRAK1:TRAF6 from the activated TLR:oligo-Myd88:Mal:p-IRAK4 complex
R-HSA-2262775 Dissociation of p-IRAK2:TRAF6 from the activated TLR:oligo-Myd88:Mal:p-IRAK4 complex
R-HSA-166286 Multiple IRAK1 autophosphorylation steps
R-HSA-166284 Second phosphorylation of IRAK1 by IRAK4 bound to activated TLR:MyD88:Mal
R-HSA-166119 First phosphorylation of IRAK1 by IRAK4 bound to activated TLR:MyD88:Mal
R-HSA-166363 TRAF6 binds to hp- IRAK1
R-HSA-937059 Phosphorylation of IRAK2 bound to the activated IRAK4:MyD88 oligomer:Mal:activated TLR complex
R-HSA-2262777 TRAF6 binds to p-IRAK2
R-HSA-168179 Toll Like Receptor TLR1:TLR2 Cascade
R-HSA-1461957 Beta defensins
R-HSA-5686938 Regulation of TLR by endogenous ligand
R-HSA-181438 Toll Like Receptor 2 (TLR2) Cascade
R-HSA-1461973 Defensins
R-HSA-168898 Toll-Like Receptors Cascades
R-HSA-166058 MyD88:Mal cascade initiated on plasma membrane
R-HSA-6803157 Antimicrobial peptides
R-HSA-168249 Innate Immune System
R-HSA-5602498 MyD88 deficiency (TLR2/4)
R-HSA-166016 Toll Like Receptor 4 (TLR4) Cascade
R-HSA-168188 Toll Like Receptor TLR6:TLR2 Cascade
R-HSA-168256 Immune System
R-HSA-5603041 IRAK4 deficiency (TLR2/4)
R-HSA-5602358 Diseases associated with the TLR signaling cascade
R-HSA-5260271 Diseases of Immune System
R-HSA-1643685 Disease

-  Other Names for This Gene
  Alternate Gene Symbols: D1CS39, D1CS41, ENST00000308979.1, ENST00000308979.2, ENST00000308979.3, ENST00000308979.4, ENST00000308979.5, ENST00000308979.6, KIAA0012, NM_003263, O15452, Q15399, Q32MK3, Q32MK4, Q9UG90, TLR1_HUMAN, uc317okr.1, uc317okr.2
UCSC ID: ENST00000308979.7_8
RefSeq Accession: NM_003263.4
Protein: Q15399 (aka TLR1_HUMAN)

-  Gene Model Information
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-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.