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UniProtKB - Q15399 (TLR1_HUMAN)

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Protein

Toll-like receptor 1

Gene

TLR1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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.2 Publications

GO - Molecular functioni

  • identical protein binding Source: IntAct
  • lipopeptide binding Source: GO_Central
  • protein heterodimerization activity Source: MGI
  • signaling receptor activity Source: ProtInc
  • Toll-like receptor 2 binding Source: UniProtKB
  • transmembrane signaling receptor activity Source: GO_Central
View the complete GO annotation on QuickGO ...

GO - Biological processi

  • cell activation Source: AgBase
  • cellular response to triacyl bacterial lipopeptide Source: UniProtKB
  • defense response to bacterium Source: GO_Central
  • detection of triacyl bacterial lipopeptide Source: MGI
  • immune response Source: ProtInc
  • inflammatory response Source: UniProtKB-KW
  • innate immune response Source: UniProtKB-KW
  • macrophage activation Source: UniProtKB
  • MyD88-dependent toll-like receptor signaling pathway Source: Reactome
  • positive regulation of interleukin-6 biosynthetic process Source: UniProtKB
  • positive regulation of interleukin-8 secretion Source: ARUK-UCL
  • positive regulation of toll-like receptor 2 signaling pathway Source: ARUK-UCL
  • positive regulation of tumor necrosis factor biosynthetic process Source: UniProtKB
  • signal transduction Source: ProtInc
  • toll-like receptor 1 signaling pathway Source: InterPro
  • toll-like receptor signaling pathway Source: GO_Central
  • toll-like receptor TLR1:TLR2 signaling pathway Source: Reactome
View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionReceptor
Biological processImmunity, Inflammatory response, Innate immunity

Enzyme and pathway databases

ReactomeiR-HSA-1236974 ER-Phagosome pathway
R-HSA-1461957 Beta defensins
R-HSA-166058 MyD88:Mal cascade initiated on plasma membrane
R-HSA-168179 Toll Like Receptor TLR1:TLR2 Cascade
R-HSA-5602498 MyD88 deficiency (TLR2/4)
R-HSA-5603041 IRAK4 deficiency (TLR2/4)
R-HSA-5686938 Regulation of TLR by endogenous ligand

Names & Taxonomyi

Protein namesi
Recommended name:
Toll-like receptor 1
Alternative name(s):
Toll/interleukin-1 receptor-like protein
Short name:
TIL
CD_antigen: CD281
Gene namesi
Name:TLR1
Synonyms:KIAA0012
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 4

Organism-specific databases

EuPathDBiHostDB:ENSG00000174125.7
HGNCiHGNC:11847 TLR1
MIMi601194 gene
neXtProtiNX_Q15399

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini25 – 580ExtracellularSequence analysisAdd BLAST556
Transmembranei581 – 601HelicalSequence analysisAdd BLAST21
Topological domaini602 – 786CytoplasmicSequence analysisAdd BLAST185

Keywords - Cellular componenti

Cell membrane, Cytoplasmic vesicle, Golgi apparatus, Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi7096
MalaCardsiTLR1
MIMi613223 phenotype
OpenTargetsiENSG00000174125
PharmGKBiPA36549

Chemistry databases

ChEMBLiCHEMBL3885643

Polymorphism and mutation databases

BioMutaiTLR1
DMDMi146291086

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 241 PublicationAdd BLAST24
ChainiPRO_000003470525 – 786Toll-like receptor 1Add BLAST762

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi51N-linked (GlcNAc...) asparagine1 Publication1
Disulfide bondi110 ↔ 1321 Publication
Glycosylationi137N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi163N-linked (GlcNAc...) asparagine2 Publications1
Disulfide bondi223 ↔ 2301 Publication
Glycosylationi330N-linked (GlcNAc...) asparagine1 Publication1
Disulfide bondi343 ↔ 3681 Publication
Disulfide bondi419 ↔ 4421 Publication
Glycosylationi429N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi578N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

EPDiQ15399
PaxDbiQ15399
PeptideAtlasiQ15399
PRIDEiQ15399
ProteomicsDBi60569

PTM databases

iPTMnetiQ15399
PhosphoSitePlusiQ15399

Expressioni

Tissue specificityi

Ubiquitous. Highly expressed in spleen, ovary, peripheral blood leukocytes, thymus and small intestine.

Gene expression databases

BgeeiENSG00000174125
CleanExiHS_TLR1
ExpressionAtlasiQ15399 baseline and differential
GenevisibleiQ15399 HS

Interactioni

Subunit structurei

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).By similarity2 Publications

Binary interactionsi

Show more details

GO - Molecular functioni

  • identical protein binding Source: IntAct
  • protein heterodimerization activity Source: MGI
  • Toll-like receptor 2 binding Source: UniProtKB
View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridi112951, 13 interactors
IntActiQ15399, 6 interactors
STRINGi9606.ENSP00000354932

Structurei

Secondary structure

1786
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi28 – 30Combined sources3
Beta strandi48 – 51Combined sources4
Helixi62 – 65Combined sources4
Beta strandi73 – 75Combined sources3
Beta strandi83 – 85Combined sources3
Helixi86 – 89Combined sources4
Beta strandi97 – 99Combined sources3
Beta strandi107 – 109Combined sources3
Beta strandi117 – 120Combined sources4
Helixi133 – 137Combined sources5
Beta strandi143 – 150Combined sources8
Helixi153 – 159Combined sources7
Beta strandi164 – 171Combined sources8
Helixi181 – 184Combined sources4
Beta strandi189 – 195Combined sources7
Beta strandi198 – 200Combined sources3
Beta strandi214 – 218Combined sources5
Beta strandi221 – 223Combined sources3
Turni227 – 230Combined sources4
Helixi231 – 238Combined sources8
Helixi239 – 242Combined sources4
Beta strandi248 – 257Combined sources10
Helixi258 – 269Combined sources12
Beta strandi274 – 285Combined sources12
Beta strandi301 – 309Combined sources9
Helixi317 – 324Combined sources8
Beta strandi329 – 336Combined sources8
Beta strandi352 – 354Combined sources3
Turni362 – 367Combined sources6
Beta strandi376 – 378Combined sources3
Helixi387 – 394Combined sources8
Beta strandi402 – 404Combined sources3
Helixi414 – 416Combined sources3
Beta strandi427 – 429Combined sources3
Helixi437 – 441Combined sources5
Beta strandi449 – 451Combined sources3
Helixi462 – 466Combined sources5
Beta strandi472 – 474Combined sources3
Turni487 – 491Combined sources5
Helixi504 – 516Combined sources13
Turni517 – 520Combined sources4
Beta strandi521 – 523Combined sources3
Turni529 – 531Combined sources3
Helixi536 – 538Combined sources3
Beta strandi631 – 633Combined sources3
Beta strandi637 – 642Combined sources6
Helixi645 – 647Combined sources3
Helixi648 – 653Combined sources6
Helixi655 – 660Combined sources6
Turni661 – 663Combined sources3
Turni669 – 672Combined sources4
Helixi679 – 689Combined sources11
Beta strandi690 – 698Combined sources9
Helixi699 – 704Combined sources6
Helixi707 – 712Combined sources6
Beta strandi724 – 732Combined sources9
Helixi736 – 738Combined sources3
Helixi744 – 751Combined sources8
Helixi762 – 764Combined sources3
Helixi767 – 777Combined sources11

3D structure databases

ProteinModelPortaliQ15399
SMRiQ15399
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ15399

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati54 – 77LRR 1Add BLAST24
Repeati78 – 101LRR 2Add BLAST24
Repeati102 – 125LRR 3Add BLAST24
Repeati126 – 150LRR 4Add BLAST25
Repeati151 – 175LRR 5Add BLAST25
Repeati176 – 199LRR 6Add BLAST24
Repeati200 – 223LRR 7Add BLAST24
Repeati224 – 250LRR 8Add BLAST27
Repeati251 – 278LRR 9Add BLAST28
Repeati279 – 308LRR 10Add BLAST30
Repeati309 – 337LRR 11Add BLAST29
Repeati338 – 361LRR 12Add BLAST24
Repeati362 – 388LRR 13Add BLAST27
Repeati389 – 414LRR 14Add BLAST26
Repeati415 – 437LRR 15Add BLAST23
Repeati438 – 457LRR 16Add BLAST20
Repeati458 – 478LRR 17Add BLAST21
Repeati479 – 500LRR 18Add BLAST22
Repeati501 – 524LRR 19Add BLAST24
Domaini525 – 579LRRCTAdd BLAST55
Domaini635 – 779TIRPROSITE-ProRule annotationAdd BLAST145

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni313 – 316Interaction with bacterial lipopeptide4

Sequence similaritiesi

Belongs to the Toll-like receptor family.Curated

Keywords - Domaini

Leucine-rich repeat, Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG4641 Eukaryota
COG4886 LUCA
GeneTreeiENSGT00760000119006
HOGENOMiHOG000008676
HOVERGENiHBG023180
InParanoidiQ15399
KOiK05398
OMAiNNIETTW
OrthoDBiEOG091G0356
PhylomeDBiQ15399
TreeFamiTF351113

Family and domain databases

Gene3Di3.40.50.10140, 1 hit
3.80.10.10, 1 hit
InterProiView protein in InterPro
IPR000483 Cys-rich_flank_reg_C
IPR001611 Leu-rich_rpt
IPR003591 Leu-rich_rpt_typical-subtyp
IPR032675 LRR_dom_sf
IPR000157 TIR_dom
IPR027190 TLR1
IPR035897 Toll_tir_struct_dom_sf
PANTHERiPTHR24365:SF261 PTHR24365:SF261, 1 hit
PfamiView protein in Pfam
PF13855 LRR_8, 2 hits
PF01463 LRRCT, 1 hit
PF01582 TIR, 1 hit
SMARTiView protein in SMART
SM00369 LRR_TYP, 4 hits
SM00082 LRRCT, 1 hit
SM00255 TIR, 1 hit
SUPFAMiSSF52200 SSF52200, 1 hit
PROSITEiView protein in PROSITE
PS51450 LRR, 10 hits
PS50104 TIR, 1 hit

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

Q15399-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MTSIFHFAII FMLILQIRIQ LSEESEFLVD RSKNGLIHVP KDLSQKTTIL 
        60         70         80         90        100
NISQNYISEL WTSDILSLSK LRILIISHNR IQYLDISVFK FNQELEYLDL 
       110        120        130        140        150
SHNKLVKISC HPTVNLKHLD LSFNAFDALP ICKEFGNMSQ LKFLGLSTTH 
       160        170        180        190        200
LEKSSVLPIA HLNISKVLLV LGETYGEKED PEGLQDFNTE SLHIVFPTNK 
       210        220        230        240        250
EFHFILDVSV KTVANLELSN IKCVLEDNKC SYFLSILAKL QTNPKLSNLT 
       260        270        280        290        300
LNNIETTWNS FIRILQLVWH TTVWYFSISN VKLQGQLDFR DFDYSGTSLK 
       310        320        330        340        350
ALSIHQVVSD VFGFPQSYIY EIFSNMNIKN FTVSGTRMVH MLCPSKISPF 
       360        370        380        390        400
LHLDFSNNLL TDTVFENCGH LTELETLILQ MNQLKELSKI AEMTTQMKSL 
       410        420        430        440        450
QQLDISQNSV SYDEKKGDCS WTKSLLSLNM SSNILTDTIF RCLPPRIKVL 
       460        470        480        490        500
DLHSNKIKSI PKQVVKLEAL QELNVAFNSL TDLPGCGSFS SLSVLIIDHN 
       510        520        530        540        550
SVSHPSADFF QSCQKMRSIK AGDNPFQCTC ELGEFVKNID QVSSEVLEGW 
       560        570        580        590        600
PDSYKCDYPE SYRGTLLKDF HMSELSCNIT LLIVTIVATM LVLAVTVTSL 
       610        620        630        640        650
CSYLDLPWYL RMVCQWTQTR RRARNIPLEE LQRNLQFHAF ISYSGHDSFW 
       660        670        680        690        700
VKNELLPNLE KEGMQICLHE RNFVPGKSIV ENIITCIEKS YKSIFVLSPN 
       710        720        730        740        750
FVQSEWCHYE LYFAHHNLFH EGSNSLILIL LEPIPQYSIP SSYHKLKSLM 
       760        770        780 
ARRTYLEWPK EKSKRGLFWA NLRAAINIKL TEQAKK
Length:786
Mass (Da):90,291
Last modified:May 1, 2007 - v3
Checksum:i1BFCCC5E42EA5242
GO

Sequence cautioni

The sequence BAA02801 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti182E → G in CAB43364 (PubMed:11230166).Curated1
Sequence conflicti228N → S in CAB43364 (PubMed:11230166).Curated1
Sequence conflicti276F → S in CAB43364 (PubMed:11230166).Curated1

Polymorphismi

Genetic variations in TLR1 may influence susceptibility to or protection against contracting leprosy and define the leprosy susceptibility locus 5 [MIMi: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.

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06634044S → P1 PublicationCorresponds to variant dbSNP:rs76600635Ensembl.1
Natural variantiVAR_06634175I → T1 PublicationCorresponds to variant dbSNP:rs137853170EnsemblClinVar.1
Natural variantiVAR_03191680R → T3 PublicationsCorresponds to variant dbSNP:rs5743611Ensembl.1
Natural variantiVAR_018474118H → Y1 PublicationCorresponds to variant dbSNP:rs5743612Ensembl.1
Natural variantiVAR_031917248N → S May confer susceptibility to leprosy. 4 PublicationsCorresponds to variant dbSNP:rs4833095EnsemblClinVar.1
Natural variantiVAR_031918305H → L1 PublicationCorresponds to variant dbSNP:rs3923647Ensembl.1
Natural variantiVAR_031919315P → L Severe impairment of activity. 1 PublicationCorresponds to variant dbSNP:rs5743613Ensembl.1
Natural variantiVAR_066342352H → N1 PublicationCorresponds to variant dbSNP:rs76796448Ensembl.1
Natural variantiVAR_066343460I → V1 PublicationCorresponds to variant dbSNP:rs137853171EnsemblClinVar.1
Natural variantiVAR_066344542V → A1 PublicationCorresponds to variant dbSNP:rs137853172EnsemblClinVar.1
Natural variantiVAR_066345554Y → C Severe impairment of activity. 1 PublicationCorresponds to variant dbSNP:rs137853173EnsemblClinVar.1
Natural variantiVAR_031920587V → G1 PublicationCorresponds to variant dbSNP:rs5743617Ensembl.1
Natural variantiVAR_031921602S → I Severe impairment of activity. 5 PublicationsCorresponds to variant dbSNP:rs5743618EnsemblClinVar.1
Natural variantiVAR_052358631L → R. Corresponds to variant dbSNP:rs5743619Ensembl.1
Natural variantiVAR_066346651V → A Severe impairment of activity. 1 PublicationCorresponds to variant dbSNP:rs137853174EnsemblClinVar.1
Natural variantiVAR_066347674V → A1 Publication1
Natural variantiVAR_066348720H → P Severe impairment of activity. 1 PublicationCorresponds to variant dbSNP:rs113706342Ensembl.1
Natural variantiVAR_052359733P → L1 PublicationCorresponds to variant dbSNP:rs5743621Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U88540 mRNA Translation: AAC34137.1
AB445617 mRNA Translation: BAG55014.1
DQ012259 mRNA Translation: AAY85638.1
DQ012260 mRNA Translation: AAY85639.1
DQ012261 mRNA Translation: AAY85640.1
D13637 mRNA Translation: BAA02801.2 Different initiation.
AL050262 mRNA Translation: CAB43364.1
BC109093 mRNA Translation: AAI09094.1
BC109094 mRNA Translation: AAI09095.1
CCDSiCCDS33973.1
PIRiT08664
RefSeqiNP_003254.2, NM_003263.3
XP_005262719.1, XM_005262662.4
XP_011512044.1, XM_011513742.2
XP_011512045.1, XM_011513743.2
XP_011512046.1, XM_011513744.2
XP_011512047.1, XM_011513745.2
XP_016864060.1, XM_017008571.1
XP_016864061.1, XM_017008572.1
UniGeneiHs.621817
Hs.654532

Genome annotation databases

EnsembliENST00000308979; ENSP00000354932; ENSG00000174125
ENST00000502213; ENSP00000421259; ENSG00000174125
GeneIDi7096
KEGGihsa:7096
UCSCiuc003gtl.4 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiTLR1_HUMAN
AccessioniPrimary (citable) accession number: Q15399
Secondary accession number(s): D1CS39
, D1CS41, O15452, Q32MK3, Q32MK4, Q9UG90
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 31, 2002
Last sequence update: May 1, 2007
Last modified: July 18, 2018
This is version 186 of the entry and version 3 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human cell differentiation molecules
    CD nomenclature of surface proteins of human leucocytes and list of entries
  2. Human chromosome 4
    Human chromosome 4: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  7. SIMILARITY comments
    Index of protein domains and families

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