• Gene id: 7096

Gene Summary

• Gene Symbol: TLR1   Gene   UCSC   Ensembl
• Aliases: CD281, TIL, TIL. LPRS5, rsc786
• Gene name: toll like receptor 1
• Alternate names: toll-like receptor 1, toll/interleukin-1 receptor-like protein,
• Gene location: 4p14 (38806261: 38791054)     Exons: 7     NC_000004.12
• Gene summary(Entrez): 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
• OMIM: 601194

Protein Summary

• Protein general information: Q15399  
  • Name: Toll like receptor 1 (EC 3.2.2.6) (Toll/interleukin 1 receptor like protein) (TIL) (CD antigen CD281)
  • Length: 786  
  • Mass: 90291
  • Tissue specificity: Ubiquitous. Highly expressed in spleen, ovary, peripheral blood leukocytes, thymus and small intestine.
• Sequence:

  MTSIFHFAIIFMLILQIRIQLSEESEFLVDRSKNGLIHVPKDLSQKTTILNISQNYISELWTSDILSLSKLRILI
  ISHNRIQYLDISVFKFNQELEYLDLSHNKLVKISCHPTVNLKHLDLSFNAFDALPICKEFGNMSQLKFLGLSTTH
  LEKSSVLPIAHLNISKVLLVLGETYGEKEDPEGLQDFNTESLHIVFPTNKEFHFILDVSVKTVANLELSNIKCVL
  EDNKCSYFLSILAKLQTNPKLSNLTLNNIETTWNSFIRILQLVWHTTVWYFSISNVKLQGQLDFRDFDYSGTSLK
  ALSIHQVVSDVFGFPQSYIYEIFSNMNIKNFTVSGTRMVHMLCPSKISPFLHLDFSNNLLTDTVFENCGHLTELE
  TLILQMNQLKELSKIAEMTTQMKSLQQLDISQNSVSYDEKKGDCSWTKSLLSLNMSSNILTDTIFRCLPPRIKVL
  DLHSNKIKSIPKQVVKLEALQELNVAFNSLTDLPGCGSFSSLSVLIIDHNSVSHPSADFFQSCQKMRSIKAGDNP
  FQCTCELGEFVKNIDQVSSEVLEGWPDSYKCDYPESYRGTLLKDFHMSELSCNITLLIVTIVATMLVLAVTVTSL
  CSYLDLPWYLRMVCQWTQTRRRARNIPLEELQRNLQFHAFISYSGHDSFWVKNELLPNLEKEGMQICLHERNFVP
  GKSIVENIITCIEKSYKSIFVLSPNFVQSEWCHYELYFAHHNLFHEGSNSLILILLEPIPQYSIPSSYHKLKSLM
  ARRTYLEWPKEKSKRGLFWANLRAAINIKLTEQAKK

• Structural information:
  • Protein Domains: (525..57-)
    (/note="LRRCT-)
    (635..77-)
    (/note="TIR-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00204"-)
  • Interpro: IPR000483  IPR001611  IPR003591  IPR032675  IPR000157   IPR027190  IPR035897  
  • Prosite: PS51450 PS50104
  • PDB: 1FYV 2Z7X 6NIH
  • PDBsum: 1FYV 2Z7X 6NIH
  • STRING: ENSP00000354932
• Other Databases: GeneCards:  TLR1  Malacards:  TLR1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:2000484	positive regulation of interleukin-8 secretion	IGI	biological process
GO:0034137	positive regulation of toll-like receptor 2 signaling pathway	IGI	biological process
GO:0071723	lipopeptide binding	IBA	molecular function
GO:0038023	signaling receptor activity	IBA	molecular function
GO:0035354	Toll-like receptor 1-Toll-like receptor 2 protein complex	IBA	cellular component
GO:0071727	cellular response to triacyl bacterial lipopeptide	IBA	biological process
GO:0071221	cellular response to bacterial lipopeptide	IBA	biological process
GO:0035663	Toll-like receptor 2 binding	IBA	molecular function
GO:0006954	inflammatory response	IBA	biological process
GO:0005887	integral component of plasma membrane	IBA	cellular component
GO:0002224	toll-like receptor signaling pathway	IBA	biological process
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0045121	membrane raft	IDA	cellular component
GO:0071727	cellular response to triacyl bacterial lipopeptide	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0035663	Toll-like receptor 2 binding	IPI	molecular function
GO:0002755	MyD88-dependent toll-like receptor signaling pathway	IEA	biological process
GO:0007165	signal transduction	IEA	biological process
GO:0042495	detection of triacyl bacterial lipopeptide	IEA	biological process
GO:0050707	regulation of cytokine secretion	IEA	biological process
GO:0002224	toll-like receptor signaling pathway	IEA	biological process
GO:0004888	transmembrane signaling receptor activity	IEA	molecular function
GO:0006954	inflammatory response	IEA	biological process
GO:0006955	immune response	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0034130	toll-like receptor 1 signaling pathway	IEA	biological process
GO:0042116	macrophage activation	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0045087	innate immune response	IEA	biological process
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0002376	immune system process	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0006954	inflammatory response	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0038023	signaling receptor activity	TAS	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0006955	immune response	TAS	biological process
GO:0007165	signal transduction	TAS	biological process
GO:0007165	signal transduction	TAS	biological process
GO:0061809	NAD+ nucleotidase, cyclic ADP-ribose generating	IEA	molecular function
GO:0050135	NAD(P)+ nucleosidase activity	IEA	molecular function
GO:0042495	detection of triacyl bacterial lipopeptide	IDA	biological process
GO:0035354	Toll-like receptor 1-Toll-like receptor 2 protein complex	IDA	cellular component
GO:0071727	cellular response to triacyl bacterial lipopeptide	IDA	biological process
GO:0001775	cell activation	IDA	biological process
GO:0002224	toll-like receptor signaling pathway	TAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0038123	toll-like receptor TLR1:TLR2 signaling pathway	TAS	biological process
GO:0002755	MyD88-dependent toll-like receptor signaling pathway	TAS	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0045410	positive regulation of interleukin-6 biosynthetic process	IEA	biological process
GO:0042535	positive regulation of tumor necrosis factor biosynthetic process	IEA	biological process
GO:0006952	defense response	IEA	biological process
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0045121	membrane raft	IEA	cellular component
GO:0030670	phagocytic vesicle membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0045410	positive regulation of interleukin-6 biosynthetic process	ISS	biological process
GO:0042116	macrophage activation	NAS	biological process
GO:0016020	membrane	NAS	cellular component
GO:0004888	transmembrane signaling receptor activity	NAS	molecular function
GO:0042535	positive regulation of tumor necrosis factor biosynthetic process	ISS	biological process

KEGG pathways

Pathway id	Pathway name
hsa05152	Tuberculosis
hsa04620	Toll-like receptor signaling pathway

Diseases

Associated diseases	References
Asthma	PMID:18547625
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R