TLR1 (toll like receptor 1)

Gene

• Entrez ID: 7096
• Gene name: Toll like receptor 1
• Gene symbol: TLR1
• Synonyms: CD281, TIL, TIL. LPRS5, rsc786
• Chromosome: 4
• Chromosome location: 4p14
• Summary: 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

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs4833095	T>C	Risk-factor	Missense variant, coding sequence variant, intron variant, non coding transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018819	hsa-miR-335-5p	Microarray	18185580
MIRT030134	hsa-miR-26b-5p	Microarray	19088304

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001774	Process	Microglial cell activation	IEA
GO:0001775	Process	Cell activation	IDA	15294986
GO:0002224	Process	Toll-like receptor signaling pathway	IBA	21873635
GO:0002224	Process	Toll-like receptor signaling pathway	TAS
GO:0002755	Process	MyD88-dependent toll-like receptor signaling pathway	TAS
GO:0004888	Function	Transmembrane signaling receptor activity	NAS	11081518
GO:0005515	Function	Protein binding	IPI	15728506, 16880211, 23155421
GO:0005794	Component	Golgi apparatus	IDA	16880211
GO:0005886	Component	Plasma membrane	TAS
GO:0005887	Component	Integral component of plasma membrane	IBA	21873635
GO:0006954	Process	Inflammatory response	IBA	21873635
GO:0006955	Process	Immune response	TAS	10426995
GO:0007165	Process	Signal transduction	TAS	9435236, 10426995
GO:0016020	Component	Membrane	NAS	11081518
GO:0030670	Component	Phagocytic vesicle membrane	IEA
GO:0032755	Process	Positive regulation of interleukin-6 production	ISS	12077222
GO:0032757	Process	Positive regulation of interleukin-8 production	IGI	22198949
GO:0032760	Process	Positive regulation of tumor necrosis factor production	ISS	12077222
GO:0034130	Process	Toll-like receptor 1 signaling pathway	IEA
GO:0034137	Process	Positive regulation of toll-like receptor 2 signaling pathway	IGI	22198949
GO:0035354	Component	Toll-like receptor 1-Toll-like receptor 2 protein complex	IBA	21873635
GO:0035354	Component	Toll-like receptor 1-Toll-like receptor 2 protein complex	IDA	17889651
GO:0035663	Function	Toll-like receptor 2 binding	IBA	21873635
GO:0035663	Function	Toll-like receptor 2 binding	IPI	16880211
GO:0038023	Function	Signaling receptor activity	IBA	21873635
GO:0038123	Process	Toll-like receptor TLR1:TLR2 signaling pathway	TAS
GO:0042116	Process	Macrophage activation	NAS	11607792
GO:0042495	Process	Detection of triacyl bacterial lipopeptide	IDA	19931471
GO:0042802	Function	Identical protein binding	IPI	23155421
GO:0045087	Process	Innate immune response	IEA
GO:0045121	Component	Membrane raft	IDA	16880211
GO:0050135	Function	NAD(P)+ nucleosidase activity	IEA
GO:0061809	Function	NAD+ nucleotidase, cyclic ADP-ribose generating	IEA
GO:0071221	Process	Cellular response to bacterial lipopeptide	IBA	21873635
GO:0071723	Function	Lipopeptide binding	IBA	21873635
GO:0071727	Process	Cellular response to triacyl bacterial lipopeptide	IBA	21873635
GO:0071727	Process	Cellular response to triacyl bacterial lipopeptide	IDA	16880211, 19931471

Other IDs

• MIM: 601194
• HGNC: 11847
• e!Ensembl: ENSG00000174125

Protein

• UniProt ID: Q15399
• Protein name: Toll-like receptor 1 (Toll/interleukin-1 receptor-like protein) (TIL) (CD antigen CD281)
• Protein 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:2107885
• PDB: 1FYV, 2Z7X, 6NIH, 7NT7, 7NUW, 7NUX
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF13855	LRR_8	69 → 126	Leucine rich repeat	Repeat
  PF13855	LRR_8	445 → 502	Leucine rich repeat	Repeat
  PF01463	LRRCT	553 → 578	Leucine rich repeat C-terminal domain	Family
  PF01582	TIR	636 → 786	TIR domain	Family

• Sequence:

  MTSIFHFAIIFMLILQIRIQLSEESEFLVDRSKNGLIHVPKDLSQKTTILNISQNYISEL
  WTSDILSLSKLRILIISHNRIQYLDISVFKFNQELEYLDLSHNKLVKISCHPTVNLKHLD
  LSFNAFDALPICKEFGNMSQLKFLGLSTTHLEKSSVLPIAHLNISKVLLVLGETYGEKED
  PEGLQDFNTESLHIVFPTNKEFHFILDVSVKTVANLELSNIKCVLEDNKCSYFLSILAKL
  QTNPKLSNLTLNNIETTWNSFIRILQLVWHTTVWYFSISNVKLQGQLDFRDFDYSGTSLK
  ALSIHQVVSDVFGFPQSYIYEIFSNMNIKNFTVSGTRMVHMLCPSKISPFLHLDFSNNLL
  TDTVFENCGHLTELETLILQMNQLKELSKIAEMTTQMKSLQQLDISQNSVSYDEKKGDCS
  WTKSLLSLNMSSNILTDTIFRCLPPRIKVLDLHSNKIKSIPKQVVKLEALQELNVAFNSL
  TDLPGCGSFSSLSVLIIDHNSVSHPSADFFQSCQKMRSIKAGDNPFQCTCELGEFVKNID
  QVSSEVLEGWPDSYKCDYPESYRGTLLKDFHMSELSCNITLLIVTIVATMLVLAVTVTSL
  CSYLDLPWYLRMVCQWTQTRRRARNIPLEELQRNLQFHAFISYSGHDSFWVKNELLPNLE
  KEGMQICLHERNFVPGKSIVENIITCIEKSYKSIFVLSPNFVQSEWCHYELYFAHHNLFH
  EGSNSLILILLEPIPQYSIPSSYHKLKSLMARRTYLEWPKEKSKRGLFWANLRAAINIKL
  TEQAKK

• Sequence length: 786

Pathways

KEGG:

Toll-like receptor signaling pathway
Tuberculosis

Reactome:

ER-Phagosome pathway
Beta defensins
MyD88:MAL(TIRAP) cascade initiated on plasma membrane
Toll Like Receptor TLR1:TLR2 Cascade
MyD88 deficiency (TLR2/4)
IRAK4 deficiency (TLR2/4)
Regulation of TLR by endogenous ligand

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Asthma	Asthma, Childhood asthma	rs324981, rs121912630, rs150116809, rs4950928, rs708494, rs1581842283	27182965, 30929738, 29785011, 31036433, 24388013, 30929738, 31036433
Breast carcinoma	Breast Carcinoma	rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451, rs397507859, rs80359709, rs80359742, rs80359205, rs80357627, rs80357004, rs80357571, rs80357767, rs80357653, rs80358086, rs80357608, rs28897696, rs41293465, rs146650273, rs63751017, rs63750617, rs63750726, rs63750199, rs63749848, rs398122618, rs398122653, rs397509211, rs80357791, rs121912666, rs587778541, rs121908698, rs536907995, rs587781302, rs140342925, rs587781506, rs587782652, rs587782849, rs587783057, rs10520699, rs11852999, rs139770721, rs374950566, rs786202800, rs863224451, rs377153250, rs747727055, rs876658804, rs780001540, rs760815829, rs878854926, rs775248597, rs886040658, rs886040192, rs786203523, rs886040319, rs397508006, rs587782011, rs1060502772, rs1555461727, rs1553333072, rs1114167702, rs1257401983, rs886040950, rs1060502759, rs774684620, rs142947311, rs1555580883, rs748513310, rs376170600, rs863224499, rs1593909229, rs748453607, rs1294578913, rs1574737047, rs1593909960, rs2081922847, rs2082559544, rs2053694038	29059683
Diabetes	Diabetes	rs80356611	27670767
Diabetes mellitus	Diabetes Mellitus	rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs4402960, rs1362648752, rs3745368, rs3792267, rs3842570, rs5030952, rs2975760, rs119489103, rs7903146, rs12255372, rs11196205, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237, rs80356613, rs137852740, rs137852786, rs387906407, rs151344623, rs28938469, rs28936371, rs137852672, rs80356637, rs80356642, rs80356653, rs137852673, rs137852674, rs80356634, rs80356651, rs193929360, rs137853334, rs137853335, rs137853336, rs1600731198, rs137853338, rs121964882, rs121964883, rs387906511, rs121964884, rs121964885, rs2147483647, rs387906512, rs121964887, rs121964888, rs121964889, rs121964890, rs121964891, rs28934878, rs74315383, rs121964893, rs886037620, rs886037621, rs80356663, rs121434593, rs121913150, rs587776825, rs137853236, rs2135842335, rs137853237, rs137853238, rs2135818776, rs1566092470, rs1463923467, rs137853243, rs137853244, rs2135839114, rs137853245, rs2135847417, rs121918407, rs104894005, rs104894006, rs80356655, rs104894008, rs104894009, rs104894010, rs104894011, rs80356654, rs104894016, rs193929376, rs193929374, rs193929375, rs193929373, rs80356666, rs80356669, rs80356664, rs193929366, rs1048095, rs193929355, rs193929356, rs1259467443, rs104893642, rs387906777, rs387906779, rs141804752, rs182349376, rs184917682, rs193922396, rs193922400, rs193922401, rs137852676, rs193922407, rs193922638, rs193922257, rs193922258, rs193922259, rs193922260, rs193922261, rs193922262, rs193922263, rs193922264, rs193922265, rs193922268, rs193921338, rs193922269, rs193922272, rs193922273, rs193922275, rs193922278, rs193922279, rs193922280, rs193922281, rs193922282, rs193922283, rs193922284, rs193922286, rs193922287, rs193922289, rs193922291, rs193922295, rs193922297, rs193922300, rs193922302, rs193922303, rs193922308, rs193922313, rs193922314, rs144723656, rs193922315, rs193922316, rs193922317, rs148311934, rs193922319, rs193922320, rs193922326, rs193922329, rs193922330, rs193922331, rs193922335, rs193922336, rs193922338, rs193922340, rs193922341, rs193922471, rs193922475, rs193922476, rs193922479, rs193922355, rs193922356, rs193922576, rs193922578, rs193922582, rs193922588, rs193922592, rs193922594, rs193922596, rs386134267, rs193922598, rs193922599, rs193922600, rs193922604, rs193922605, rs397514580, rs397515519, rs267601516, rs587780343, rs587780345, rs587780346, rs587780347, rs587780357, rs148954387, rs61736969, rs587783673, rs587783672, rs587783669, rs786204676, rs794727236, rs151344624, rs794727775, rs794727839, rs199946797, rs869320673, rs796065047, rs759072800, rs797045595, rs797045209, rs797045207, rs797045213, rs797045623, rs863225280, rs149703259, rs864321656, rs139964066, rs777870079, rs878853246, rs769268803, rs886039380, rs886041392, rs886041391, rs886042610, rs143064649, rs1057516192, rs746480424, rs1057516281, rs576684889, rs754728827, rs1057520291, rs1057520779, rs893256143, rs1057520504, rs1057524790, rs1057524902, rs1057524904, rs1057524905, rs764232985, rs1064793998, rs1064794268, rs769086289, rs369429452, rs1085307913, rs1131691416, rs765432081, rs1131692182, rs748749585, rs1554335441, rs762263694, rs1312678560, rs767565869, rs1375656631, rs1554335391, rs1360415315, rs1554335616, rs1554335752, rs1554909277, rs769518471, rs757171524, rs768951263, rs762703502, rs1555212248, rs1555212359, rs1555813319, rs1555816654, rs1553638903, rs1553638909, rs948820149, rs371977235, rs1553784995, rs76474829, rs200998587, rs1415041911, rs1554334894, rs1260178539, rs1554335421, rs1555211904, rs779184183, rs1554335564, rs200670692, rs1400535021, rs1554334872, rs1555212749, rs1553876668, rs1553878211, rs954727530, rs1554924035, rs372307320, rs925231098, rs1554913069, rs1554933565, rs766431403, rs746714109, rs751279984, rs770664202, rs1008906426, rs758844607, rs1554924540, rs1566092307, rs753998395, rs1565885935, rs1167124132, rs1376796469, rs556436603, rs1562715657, rs1486280029, rs1564869850, rs755259997, rs769569410, rs1172328722, rs1286294151, rs1375557127, rs1568731279, rs1562715426, rs556581174, rs1564865302, rs1565886545, rs776793516, rs1568724014, rs1392795567, rs781260712, rs1562719705, rs1382448285, rs1564977373, rs750586210, rs1598842892, rs1583592247, rs780612692, rs1593060859, rs1476637197, rs751279776, rs1593060890, rs1191912908, rs1167675604, rs1583601110, rs1593058932, rs778611627, rs753296261	27670767
Hypertension	Hypertensive disease	rs13306026, rs13333226	27670767
Leprosy	Leprosy	rs121917864, rs2239704

Unknown
Disease name	Disease term	dbSNP ID	References
Allergic rhinitis	Allergic rhinitis (disorder)		30013184
Allergic sensitization	Allergic sensitization		23817571
Eczema	Eczema		30595370
Respiratory tract diseases	Respiratory Tract Diseases		30595370
Scleroderma	Scleroderma, Limited		29293537