LOCUS       NM_003263               2851 bp    mRNA    linear   PRI 09-FEB-2025
DEFINITION  Homo sapiens toll like receptor 1 (TLR1), mRNA.
ACCESSION   NM_003263 XM_001129777
VERSION     NM_003263.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2851)
  AUTHORS   Dang,Y., Huang,J., Lin,C. and Xu,S.
  TITLE     Investigation of the association between the Toll-like receptor 1
            rs4833095 variation and gastric adenocarcinoma recurrence
  JOURNAL   Ann Hum Genet 88 (4), 287-299 (2024)
   PUBMED   38196279
  REMARK    GeneRIF: Investigation of the association between the Toll-like
            receptor 1 rs4833095 variation and gastric adenocarcinoma
            recurrence.
REFERENCE   2  (bases 1 to 2851)
  AUTHORS   Zargar,A.S., Borole,K. and Rai,R.
  TITLE     Correlation of polymorphism in Toll-Like Receptor (TLR1 and TLR2)
            genes with susceptibility of pulmonary tuberculosis in Doda region
            of India
  JOURNAL   Indian J Tuberc 71 (1), 41-47 (2024)
   PUBMED   38296390
  REMARK    GeneRIF: Correlation of polymorphism in Toll-Like Receptor (TLR1
            and TLR2) genes with susceptibility of pulmonary tuberculosis in
            Doda region of India.
REFERENCE   3  (bases 1 to 2851)
  AUTHORS   Pasha,U., Hanif,K., Nisar,H., Abid,R., Mirza,M.U., Wajid,B. and
            Sadaf,S.
  TITLE     A novel missense compound heterozygous variant in TLR1 gene is
            associated with susceptibility to rheumatoid arthritis - structural
            perspective and functional annotations
  JOURNAL   Clin Rheumatol 42 (11), 3097-3111 (2023)
   PUBMED   37479888
  REMARK    GeneRIF: A novel missense compound heterozygous variant in TLR1
            gene is associated with susceptibility to rheumatoid arthritis -
            structural perspective and functional annotations.
REFERENCE   4  (bases 1 to 2851)
  AUTHORS   Lam,S.Y., Mommersteeg,M.C., Yu,B., Broer,L., Spaander,M.C.W.,
            Frost,F., Weiss,S., Volzke,H., Lerch,M.M., Schottker,B., Zhang,Y.,
            Stocker,H., Brenner,H., Levy,D., Hwang,S.J., Wood,A.C., Rich,S.S.,
            Rotter,J.I., Taylor,K.D., Tracy,R.P., Kabagambe,E.K., Leja,M.,
            Klovins,J., Peculis,R., Rudzite,D., Nikitina-Zake,L., Skenders,G.,
            Rovite,V., Uitterlinden,A., Kuipers,E.J., Fuhler,G.M., Homuth,G.
            and Peppelenbosch,M.P.
  TITLE     Toll-Like Receptor 1 Locus Re-examined in a Genome-Wide Association
            Study Update on Anti-Helicobacter pylori IgG Titers
  JOURNAL   Gastroenterology 162 (6), 1705-1715 (2022)
   PUBMED   35031300
  REMARK    GeneRIF: Toll-Like Receptor 1 Locus Re-examined in a Genome-Wide
            Association Study Update on Anti-Helicobacter pylori IgG Titers.
REFERENCE   5  (bases 1 to 2851)
  AUTHORS   Yin,W., Liu,G., Li,J. and Bian,Z.
  TITLE     Landscape of Cell Communication in Human Dental Pulp
  JOURNAL   Small Methods 5 (9), e2100747 (2021)
   PUBMED   34928049
  REMARK    GeneRIF: Landscape of Cell Communication in Human Dental Pulp.
REFERENCE   6  (bases 1 to 2851)
  AUTHORS   Xu,Y., Tao,X., Shen,B., Horng,T., Medzhitov,R., Manley,J.L. and
            Tong,L.
  TITLE     Structural basis for signal transduction by the Toll/interleukin-1
            receptor domains
  JOURNAL   Nature 408 (6808), 111-115 (2000)
   PUBMED   11081518
REFERENCE   7  (bases 1 to 2851)
  AUTHORS   Muzio,M., Bosisio,D., Polentarutti,N., D'amico,G., Stoppacciaro,A.,
            Mancinelli,R., van't Veer,C., Penton-Rol,G., Ruco,L.P., Allavena,P.
            and Mantovani,A.
  TITLE     Differential expression and regulation of toll-like receptors (TLR)
            in human leukocytes: selective expression of TLR3 in dendritic
            cells
  JOURNAL   J Immunol 164 (11), 5998-6004 (2000)
   PUBMED   10820283
REFERENCE   8  (bases 1 to 2851)
  AUTHORS   Brightbill,H.D., Libraty,D.H., Krutzik,S.R., Yang,R.B.,
            Belisle,J.T., Bleharski,J.R., Maitland,M., Norgard,M.V.,
            Plevy,S.E., Smale,S.T., Brennan,P.J., Bloom,B.R., Godowski,P.J. and
            Modlin,R.L.
  TITLE     Host defense mechanisms triggered by microbial lipoproteins through
            toll-like receptors
  JOURNAL   Science 285 (5428), 732-736 (1999)
   PUBMED   10426995
REFERENCE   9  (bases 1 to 2851)
  AUTHORS   Rock,F.L., Hardiman,G., Timans,J.C., Kastelein,R.A. and Bazan,J.F.
  TITLE     A family of human receptors structurally related to Drosophila Toll
  JOURNAL   Proc Natl Acad Sci U S A 95 (2), 588-593 (1998)
   PUBMED   9435236
REFERENCE   10 (bases 1 to 2851)
  AUTHORS   Taguchi,T., Mitcham,J.L., Dower,S.K., Sims,J.E. and Testa,J.R.
  TITLE     Chromosomal localization of TIL, a gene encoding a protein related
            to the Drosophila transmembrane receptor Toll, to human chromosome
            4p14
  JOURNAL   Genomics 32 (3), 486-488 (1996)
   PUBMED   8838819
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL050262.1, AW408740.1,
            D13637.1 and BU623316.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_003263.3.
            
            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
            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].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AL050262.1, AK292982.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000308979.7/ ENSP00000354932.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-58                AL050262.1         1-58
            59-536              AW408740.1         22-499
            537-2832            D13637.1           326-2621
            2833-2851           BU623316.1         17-35               c
FEATURES             Location/Qualifiers
     source          1..2851
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4p14"
     gene            1..2851
                     /gene="TLR1"
                     /gene_synonym="CD281; rsc786; TIL; TIL. LPRS5"
                     /note="toll like receptor 1"
                     /db_xref="GeneID:7096"
                     /db_xref="HGNC:HGNC:11847"
                     /db_xref="MIM:601194"
     exon            1..38
                     /gene="TLR1"
                     /gene_synonym="CD281; rsc786; TIL; TIL. LPRS5"
                     /inference="alignment:Splign:2.1.0"
     exon            39..115
                     /gene="TLR1"
                     /gene_synonym="CD281; rsc786; TIL; TIL. LPRS5"
                     /inference="alignment:Splign:2.1.0"
     exon            116..207
                     /gene="TLR1"
                     /gene_synonym="CD281; rsc786; TIL; TIL. LPRS5"
                     /inference="alignment:Splign:2.1.0"
     exon            208..2851
                     /gene="TLR1"
                     /gene_synonym="CD281; rsc786; TIL; TIL. LPRS5"
                     /inference="alignment:Splign:2.1.0"
     CDS             275..2635
                     /gene="TLR1"
                     /gene_synonym="CD281; rsc786; TIL; TIL. LPRS5"
                     /EC_number="3.2.2.6"
                     /note="toll/interleukin-1 receptor-like protein"
                     /codon_start=1
                     /product="toll-like receptor 1 precursor"
                     /protein_id="NP_003254.2"
                     /db_xref="CCDS:CCDS33973.1"
                     /db_xref="GeneID:7096"
                     /db_xref="HGNC:HGNC:11847"
                     /db_xref="MIM:601194"
                     /translation="MTSIFHFAIIFMLILQIRIQLSEESEFLVDRSKNGLIHVPKDLS
                     QKTTILNISQNYISELWTSDILSLSKLRILIISHNRIQYLDISVFKFNQELEYLDLSH
                     NKLVKISCHPTVNLKHLDLSFNAFDALPICKEFGNMSQLKFLGLSTTHLEKSSVLPIA
                     HLNISKVLLVLGETYGEKEDPEGLQDFNTESLHIVFPTNKEFHFILDVSVKTVANLEL
                     SNIKCVLEDNKCSYFLSILAKLQTNPKLSNLTLNNIETTWNSFIRILQLVWHTTVWYF
                     SISNVKLQGQLDFRDFDYSGTSLKALSIHQVVSDVFGFPQSYIYEIFSNMNIKNFTVS
                     GTRMVHMLCPSKISPFLHLDFSNNLLTDTVFENCGHLTELETLILQMNQLKELSKIAE
                     MTTQMKSLQQLDISQNSVSYDEKKGDCSWTKSLLSLNMSSNILTDTIFRCLPPRIKVL
                     DLHSNKIKSIPKQVVKLEALQELNVAFNSLTDLPGCGSFSSLSVLIIDHNSVSHPSAD
                     FFQSCQKMRSIKAGDNPFQCTCELGEFVKNIDQVSSEVLEGWPDSYKCDYPESYRGTL
                     LKDFHMSELSCNITLLIVTIVATMLVLAVTVTSLCSYLDLPWYLRMVCQWTQTRRRAR
                     NIPLEELQRNLQFHAFISYSGHDSFWVKNELLPNLEKEGMQICLHERNFVPGKSIVEN
                     IITCIEKSYKSIFVLSPNFVQSEWCHYELYFAHHNLFHEGSNSLILILLEPIPQYSIP
                     SSYHKLKSLMARRTYLEWPKEKSKRGLFWANLRAAINIKLTEQAKK"
     regulatory      2799..2804
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TLR1"
                     /gene_synonym="CD281; rsc786; TIL; TIL. LPRS5"
                     /note="hexamer: ATTAAA"
     regulatory      2809..2814
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TLR1"
                     /gene_synonym="CD281; rsc786; TIL; TIL. LPRS5"
                     /note="hexamer: AATGAA"
     polyA_site      2820
                     /gene="TLR1"
                     /gene_synonym="CD281; rsc786; TIL; TIL. LPRS5"
                     /note="major polyA site"
     polyA_site      2851
                     /gene="TLR1"
                     /gene_synonym="CD281; rsc786; TIL; TIL. LPRS5"
ORIGIN      
        1 acagactgcc aaatggaaca gacaagcagg ttgtcttgtg ttaaagaaaa tgagatataa
       61 gtcagttact cccggaggca atgctgctgt tcagctcttc tgtttttgtg gccagggtct
      121 tcatgaacac taataggggt accaggccct cttcctcgtt agaagaaatc aggataacaa
      181 aggcatattg ggcaccccta caaaaggaat ctgtatctgt atcaagatga tctgaagaac
      241 agcttctacc tttaggaatg tctagtgttc caaaatgact agcatcttcc attttgccat
      301 tatcttcatg ttaatacttc agatcagaat acaattatct gaagaaagtg aatttttagt
      361 tgataggtca aaaaacggtc tcatccacgt tcctaaagac ctatcccaga aaacaacaat
      421 cttaaatata tcgcaaaatt atatatctga gctttggact tctgacatct tatcactgtc
      481 aaaactgagg attttgataa tttctcataa tagaatccag tatcttgata tcagtgtttt
      541 caaattcaac caggaattgg aatacttgga tttgtcccac aacaagttgg tgaagatttc
      601 ttgccaccct actgtgaacc tcaagcactt ggacctgtca tttaatgcat ttgatgccct
      661 gcctatatgc aaagagtttg gcaatatgtc tcaactaaaa tttctggggt tgagcaccac
      721 acacttagaa aaatctagtg tgctgccaat tgctcatttg aatatcagca aggtcttgct
      781 ggtcttagga gagacttatg gggaaaaaga agaccctgag ggccttcaag actttaacac
      841 tgagagtctg cacattgtgt tccccacaaa caaagaattc cattttattt tggatgtgtc
      901 agtcaagact gtagcaaatc tggaactatc taatatcaaa tgtgtgctag aagataacaa
      961 atgttcttac ttcctaagta ttctggcgaa acttcaaaca aatccaaagt tatcaaatct
     1021 taccttaaac aacattgaaa caacttggaa ttctttcatt aggatcctcc agctggtttg
     1081 gcatacaact gtatggtatt tctcaatttc aaacgtgaag ctacagggtc agctggactt
     1141 cagagatttt gattattctg gcacttcctt gaaggccttg tctatacacc aagttgtcag
     1201 cgatgtgttc ggttttccgc aaagttatat ctatgaaatc ttttcgaata tgaacatcaa
     1261 aaatttcaca gtgtctggta cacgcatggt ccacatgctt tgcccatcca aaattagccc
     1321 gttcctgcat ttggattttt ccaataatct cttaacagac acggtttttg aaaattgtgg
     1381 gcaccttact gagttggaga cacttatttt acaaatgaat caattaaaag aactttcaaa
     1441 aatagctgaa atgactacac agatgaagtc tctgcaacaa ttggatatta gccagaattc
     1501 tgtaagctat gatgaaaaga aaggagactg ttcttggact aaaagtttat taagtttaaa
     1561 tatgtcttca aatatactta ctgacactat tttcagatgt ttacctccca ggatcaaggt
     1621 acttgatctt cacagcaata aaataaagag cattcctaaa caagtcgtaa aactggaagc
     1681 tttgcaagaa ctcaatgttg ctttcaattc tttaactgac cttcctggat gtggcagctt
     1741 tagcagcctt tctgtattga tcattgatca caattcagtt tcccacccat cggctgattt
     1801 cttccagagc tgccagaaga tgaggtcaat aaaagcaggg gacaatccat tccaatgtac
     1861 ctgtgagcta ggagaatttg tcaaaaatat agaccaagta tcaagtgaag tgttagaggg
     1921 ctggcctgat tcttataagt gtgactaccc ggaaagttat agaggaaccc tactaaagga
     1981 ctttcacatg tctgaattat cctgcaacat aactctgctg atcgtcacca tcgttgccac
     2041 catgctggtg ttggctgtga ctgtgacctc cctctgcagc tacttggatc tgccctggta
     2101 tctcaggatg gtgtgccagt ggacccagac ccggcgcagg gccaggaaca tacccttaga
     2161 agaactccaa agaaatctcc agtttcatgc atttatttca tatagtgggc acgattcttt
     2221 ctgggtgaag aatgaattat tgccaaacct agagaaagaa ggtatgcaga tttgccttca
     2281 tgagagaaac tttgttcctg gcaagagcat tgtggaaaat atcatcacct gcattgagaa
     2341 gagttacaag tccatctttg ttttgtctcc caactttgtc cagagtgaat ggtgccatta
     2401 tgaactctac tttgcccatc acaatctctt tcatgaagga tctaatagct taatcctgat
     2461 cttgctggaa cccattccgc agtactccat tcctagcagt tatcacaagc tcaaaagtct
     2521 catggccagg aggacttatt tggaatggcc caaggaaaag agcaaacgtg gccttttttg
     2581 ggctaactta agggcagcca ttaatattaa gctgacagag caagcaaaga aatagattac
     2641 acatcaagtg aaaaatattc ctcctgttga tattgctgct tttggaagtt ccaacaatga
     2701 ctttattttg catcagcata gatgtaaaca caattgtgag tgtatgatgt aggtaaaaat
     2761 atataccttc gggtcgcagt tcaccattta tatgtggtat taaaaattaa tgaaatgata
     2821 taactttgat ttaaacagtt ctgacacata a
//
