LOCUS       NM_002529               2669 bp    mRNA    linear   PRI 05-OCT-2024
DEFINITION  Homo sapiens neurotrophic receptor tyrosine kinase 1 (NTRK1),
            transcript variant 2, mRNA.
ACCESSION   NM_002529 NM_001007204
VERSION     NM_002529.4
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 2669)
  AUTHORS   Zhang,W., Schmitz,A.A., Kallionpaa,R.E., Perala,M., Pitkanen,N.,
            Tukiainen,M., Alanne,E., Johrens,K., Schulze-Rath,R., Farahmand,B.
            and Zong,J.
  TITLE     Neurotrophic tyrosine receptor kinase gene fusions in adult and
            pediatric patients with solid tumors: a clinicogenomic biobank and
            record linkage study of expression frequency and patient
            characteristics from Finland
  JOURNAL   Acta Oncol 63, 542-551 (2024)
   PUBMED   38967220
  REMARK    GeneRIF: Neurotrophic tyrosine receptor kinase gene fusions in
            adult and pediatric patients with solid tumors: a clinicogenomic
            biobank and record linkage study of expression frequency and
            patient characteristics from Finland.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2669)
  AUTHORS   Chen,Y., Steiner,S., Hagedorn,C., Kollar,S., Pliego-Mendieta,A.,
            Haberecker,M., Plock,J., Britschgi,C., Planas-Paz,L. and Pauli,C.
  TITLE     Acquired NF2 mutation confers resistance to TRK inhibition in an ex
            vivo LMNA::NTRK1-rearranged soft-tissue sarcoma cell model
  JOURNAL   J Pathol 263 (2), 257-269 (2024)
   PUBMED   38613194
  REMARK    GeneRIF: Acquired NF2 mutation confers resistance to TRK inhibition
            in an ex vivo LMNA::NTRK1-rearranged soft-tissue sarcoma cell
            model.
REFERENCE   3  (bases 1 to 2669)
  AUTHORS   Cappabianca,L., Ruggieri,M., Sebastiano,M., Sbaffone,M.,
            Martelli,I., Ruggeri,P., Di Padova,M., Farina,A.R. and Mackay,A.R.
  TITLE     Molecular Characterization and Inhibition of a Novel Stress-Induced
            Mitochondrial Protecting Role for Misfolded TrkAIII in Human
            SH-SY5Y Neuroblastoma Cells
  JOURNAL   Int J Mol Sci 25 (10), 5475 (2024)
   PUBMED   38791513
  REMARK    GeneRIF: Molecular Characterization and Inhibition of a Novel
            Stress-Induced Mitochondrial Protecting Role for Misfolded TrkAIII
            in Human SH-SY5Y Neuroblastoma Cells.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2669)
  AUTHORS   Dvorak,O., Slavickova,M., Laco,J., Stepan,M., Cermakova,E. and
            Spacek,J.
  TITLE     DNA hypermethylation of tumor suppressor genes TWIST1, GATA4, MUS81
            and NTRK1 in endometrial hyperplasia
  JOURNAL   Ceska Gynekol 89 (4), 261-268 (2024)
   PUBMED   39242200
  REMARK    GeneRIF: DNA hypermethylation of tumor suppressor genes TWIST1,
            GATA4, MUS81 and NTRK1 in endometrial hyperplasia.
REFERENCE   5  (bases 1 to 2669)
  AUTHORS   Schon,K.R., Parker,A.P.J. and Woods,C.G.
  TITLE     Congenital Insensitivity to Pain Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   29419974
REFERENCE   6  (bases 1 to 2669)
  AUTHORS   Indo,Y.
  TITLE     NTRK1 Congenital Insensitivity to Pain with Anhidrosis
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301726
REFERENCE   7  (bases 1 to 2669)
  AUTHORS   Loeb,D.M., Tsao,H., Cobb,M.H. and Greene,L.A.
  TITLE     NGF and other growth factors induce an association between ERK1 and
            the NGF receptor, gp140prototrk
  JOURNAL   Neuron 9 (6), 1053-1065 (1992)
   PUBMED   1463607
REFERENCE   8  (bases 1 to 2669)
  AUTHORS   Jing,S., Tapley,P. and Barbacid,M.
  TITLE     Nerve growth factor mediates signal transduction through trk
            homodimer receptors
  JOURNAL   Neuron 9 (6), 1067-1079 (1992)
   PUBMED   1281417
REFERENCE   9  (bases 1 to 2669)
  AUTHORS   Greco,A., Pierotti,M.A., Bongarzone,I., Pagliardini,S., Lanzi,C.
            and Della Porta,G.
  TITLE     TRK-T1 is a novel oncogene formed by the fusion of TPR and TRK
            genes in human papillary thyroid carcinomas
  JOURNAL   Oncogene 7 (2), 237-242 (1992)
   PUBMED   1532241
REFERENCE   10 (bases 1 to 2669)
  AUTHORS   Schneider,R. and Schweiger,M.
  TITLE     A novel modular mosaic of cell adhesion motifs in the extracellular
            domains of the neurogenic trk and trkB tyrosine kinase receptors
  JOURNAL   Oncogene 6 (10), 1807-1811 (1991)
   PUBMED   1656363
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL158169.17, M23102.1,
            BC062580.1 and X06704.1.
            
            On Aug 13, 2020 this sequence version replaced NM_002529.3.
            
            Summary: This gene encodes a member of the neurotrophic tyrosine
            kinase receptor (NTKR) family. This kinase is a membrane-bound
            receptor that, upon neurotrophin binding, phosphorylates itself and
            members of the MAPK pathway. The presence of this kinase leads to
            cell differentiation and may play a role in specifying sensory
            neuron subtypes. Mutations in this gene have been associated with
            congenital insensitivity to pain, anhidrosis, self-mutilating
            behavior, cognitive disability and cancer. Alternate
            transcriptional splice variants of this gene have been found, but
            only three have been characterized to date. [provided by RefSeq,
            Jul 2008].
            
            Transcript Variant: This variant (2) represents the longest
            transcript and encodes the longest isoform (2).
            
            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 :: BC062580.1, AK312704.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000524377.7/ ENSP00000431418.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-14                AL158169.17        50893-50906
            15-71               M23102.1           65-121
            72-2552             BC062580.1         1-2481
            2553-2669           X06704.1           1442-1558
FEATURES             Location/Qualifiers
     source          1..2669
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q23.1"
     gene            1..2669
                     /gene="NTRK1"
                     /gene_synonym="MTC; p140-TrkA; TRK; Trk-A; TRK1; TRKA"
                     /note="neurotrophic receptor tyrosine kinase 1"
                     /db_xref="GeneID:4914"
                     /db_xref="HGNC:HGNC:8031"
                     /db_xref="MIM:191315"
     exon            1..282
                     /gene="NTRK1"
                     /gene_synonym="MTC; p140-TrkA; TRK; Trk-A; TRK1; TRKA"
                     /inference="alignment:Splign:2.1.0"
     CDS             71..2461
                     /gene="NTRK1"
                     /gene_synonym="MTC; p140-TrkA; TRK; Trk-A; TRK1; TRKA"
                     /EC_number="2.7.10.1"
                     /note="isoform 2 precursor is encoded by transcript
                     variant 2; Oncogene TRK; tyrosine kinase receptor A; high
                     affinity nerve growth factor receptor; TRK1-transforming
                     tyrosine kinase protein; gp140trk; tropomyosin-related
                     kinase A; neurotrophic tyrosine kinase, receptor, type 1;
                     tropomyosin receptor kinase A"
                     /codon_start=1
                     /product="high affinity nerve growth factor receptor
                     isoform 2 precursor"
                     /protein_id="NP_002520.2"
                     /db_xref="CCDS:CCDS1161.1"
                     /db_xref="GeneID:4914"
                     /db_xref="HGNC:HGNC:8031"
                     /db_xref="MIM:191315"
                     /translation="MLRGGRRGQLGWHSWAAGPGSLLAWLILASAGAAPCPDACCPHG
                     SSGLRCTRDGALDSLHHLPGAENLTELYIENQQHLQHLELRDLRGLGELRNLTIVKSG
                     LRFVAPDAFHFTPRLSRLNLSFNALESLSWKTVQGLSLQELVLSGNPLHCSCALRWLQ
                     RWEEEGLGGVPEQKLQCHGQGPLAHMPNASCGVPTLKVQVPNASVDVGDDVLLRCQVE
                     GRGLEQAGWILTELEQSATVMKSGGLPSLGLTLANVTSDLNRKNVTCWAENDVGRAEV
                     SVQVNVSFPASVQLHTAVEMHHWCIPFSVDGQPAPSLRWLFNGSVLNETSFIFTEFLE
                     PAANETVRHGCLRLNQPTHVNNGNYTLLAANPFGQASASIMAAFMDNPFEFNPEDPIP
                     VSFSPVDTNSTSGDPVEKKDETPFGVSVAVGLAVFACLFLSTLLLVLNKCGRRNKFGI
                     NRPAVLAPEDGLAMSLHFMTLGGSSLSPTEGKGSGLQGHIIENPQYFSDACVHHIKRR
                     DIVLKWELGEGAFGKVFLAECHNLLPEQDKMLVAVKALKEASESARQDFQREAELLTM
                     LQHQHIVRFFGVCTEGRPLLMVFEYMRHGDLNRFLRSHGPDAKLLAGGEDVAPGPLGL
                     GQLLAVASQVAAGMVYLAGLHFVHRDLATRNCLVGQGLVVKIGDFGMSRDIYSTDYYR
                     VGGRTMLPIRWMPPESILYRKFTTESDVWSFGVVLWEIFTYGKQPWYQLSNTEAIDCI
                     TQGRELERPRACPPEVYAIMRGCWQREPQQRHSIKDVHARLQALAQAPPVYLDVLG"
     exon            283..357
                     /gene="NTRK1"
                     /gene_synonym="MTC; p140-TrkA; TRK; Trk-A; TRK1; TRKA"
                     /inference="alignment:Splign:2.1.0"
     exon            358..429
                     /gene="NTRK1"
                     /gene_synonym="MTC; p140-TrkA; TRK; Trk-A; TRK1; TRKA"
                     /inference="alignment:Splign:2.1.0"
     exon            430..498
                     /gene="NTRK1"
                     /gene_synonym="MTC; p140-TrkA; TRK; Trk-A; TRK1; TRKA"
                     /inference="alignment:Splign:2.1.0"
     exon            499..644
                     /gene="NTRK1"
                     /gene_synonym="MTC; p140-TrkA; TRK; Trk-A; TRK1; TRKA"
                     /inference="alignment:Splign:2.1.0"
     exon            645..787
                     /gene="NTRK1"
                     /gene_synonym="MTC; p140-TrkA; TRK; Trk-A; TRK1; TRKA"
                     /inference="alignment:Splign:2.1.0"
     exon            788..920
                     /gene="NTRK1"
                     /gene_synonym="MTC; p140-TrkA; TRK; Trk-A; TRK1; TRKA"
                     /inference="alignment:Splign:2.1.0"
     exon            921..1247
                     /gene="NTRK1"
                     /gene_synonym="MTC; p140-TrkA; TRK; Trk-A; TRK1; TRKA"
                     /inference="alignment:Splign:2.1.0"
     exon            1248..1265
                     /gene="NTRK1"
                     /gene_synonym="MTC; p140-TrkA; TRK; Trk-A; TRK1; TRKA"
                     /inference="alignment:Splign:2.1.0"
     exon            1266..1321
                     /gene="NTRK1"
                     /gene_synonym="MTC; p140-TrkA; TRK; Trk-A; TRK1; TRKA"
                     /inference="alignment:Splign:2.1.0"
     exon            1322..1424
                     /gene="NTRK1"
                     /gene_synonym="MTC; p140-TrkA; TRK; Trk-A; TRK1; TRKA"
                     /inference="alignment:Splign:2.1.0"
     exon            1425..1571
                     /gene="NTRK1"
                     /gene_synonym="MTC; p140-TrkA; TRK; Trk-A; TRK1; TRKA"
                     /inference="alignment:Splign:2.1.0"
     exon            1572..1702
                     /gene="NTRK1"
                     /gene_synonym="MTC; p140-TrkA; TRK; Trk-A; TRK1; TRKA"
                     /inference="alignment:Splign:2.1.0"
     exon            1703..1875
                     /gene="NTRK1"
                     /gene_synonym="MTC; p140-TrkA; TRK; Trk-A; TRK1; TRKA"
                     /inference="alignment:Splign:2.1.0"
     exon            1876..2116
                     /gene="NTRK1"
                     /gene_synonym="MTC; p140-TrkA; TRK; Trk-A; TRK1; TRKA"
                     /inference="alignment:Splign:2.1.0"
     exon            2117..2275
                     /gene="NTRK1"
                     /gene_synonym="MTC; p140-TrkA; TRK; Trk-A; TRK1; TRKA"
                     /inference="alignment:Splign:2.1.0"
     exon            2276..2669
                     /gene="NTRK1"
                     /gene_synonym="MTC; p140-TrkA; TRK; Trk-A; TRK1; TRKA"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2650..2655
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NTRK1"
                     /gene_synonym="MTC; p140-TrkA; TRK; Trk-A; TRK1; TRKA"
                     /note="hexamer: ATTATA"
     polyA_site      2669
                     /gene="NTRK1"
                     /gene_synonym="MTC; p140-TrkA; TRK; Trk-A; TRK1; TRKA"
                     /note="major polyA site"
ORIGIN      
        1 ggaggcctgg cagctgcagc tgggagcgca cagacggctg ccccgcctga gcgaggcggg
       61 cgccgccgcg atgctgcgag gcggacggcg cgggcagctt ggctggcaca gctgggctgc
      121 ggggccgggc agcctgctgg cttggctgat actggcatct gcgggcgccg caccctgccc
      181 cgatgcctgc tgcccccacg gctcctcggg actgcgatgc acccgggatg gggccctgga
      241 tagcctccac cacctgcccg gcgcagagaa cctgactgag ctctacatcg agaaccagca
      301 gcatctgcag catctggagc tccgtgatct gaggggcctg ggggagctga gaaacctcac
      361 catcgtgaag agtggtctcc gtttcgtggc gccagatgcc ttccatttca ctcctcggct
      421 cagtcgcctg aatctctcct tcaacgctct ggagtctctc tcctggaaaa ctgtgcaggg
      481 cctctcctta caggaactgg tcctgtcggg gaaccctctg cactgttctt gtgccctgcg
      541 ctggctacag cgctgggagg aggagggact gggcggagtg cctgaacaga agctgcagtg
      601 tcatgggcaa gggcccctgg cccacatgcc caatgccagc tgtggtgtgc ccacgctgaa
      661 ggtccaggtg cccaatgcct cggtggatgt gggggacgac gtgctgctgc ggtgccaggt
      721 ggaggggcgg ggcctggagc aggccggctg gatcctcaca gagctggagc agtcagccac
      781 ggtgatgaaa tctgggggtc tgccatccct ggggctgacc ctggccaatg tcaccagtga
      841 cctcaacagg aagaacgtga cgtgctgggc agagaacgat gtgggccggg cagaggtctc
      901 tgttcaggtc aacgtctcct tcccggccag tgtgcagctg cacacggcgg tggagatgca
      961 ccactggtgc atccccttct ctgtggatgg gcagccggca ccgtctctgc gctggctctt
     1021 caatggctcc gtgctcaatg agaccagctt catcttcact gagttcctgg agccggcagc
     1081 caatgagacc gtgcggcacg ggtgtctgcg cctcaaccag cccacccacg tcaacaacgg
     1141 caactacacg ctgctggctg ccaacccctt cggccaggcc tccgcctcca tcatggctgc
     1201 cttcatggac aaccctttcg agttcaaccc cgaggacccc atccctgtct ccttctcgcc
     1261 ggtggacact aacagcacat ctggagaccc ggtggagaag aaggacgaaa caccttttgg
     1321 ggtctcggtg gctgtgggcc tggccgtctt tgcctgcctc ttcctttcta cgctgctcct
     1381 tgtgctcaac aaatgtggac ggagaaacaa gtttgggatc aaccgcccgg ctgtgctggc
     1441 tccagaggat gggctggcca tgtccctgca tttcatgaca ttgggtggca gctccctgtc
     1501 ccccaccgag ggcaaaggct ctgggctcca aggccacatc atcgagaacc cacaatactt
     1561 cagtgatgcc tgtgttcacc acatcaagcg ccgggacatc gtgctcaagt gggagctggg
     1621 ggagggcgcc tttgggaagg tcttccttgc tgagtgccac aacctcctgc ctgagcagga
     1681 caagatgctg gtggctgtca aggcactgaa ggaggcgtcc gagagtgctc ggcaggactt
     1741 ccagcgtgag gctgagctgc tcaccatgct gcagcaccag cacatcgtgc gcttcttcgg
     1801 cgtctgcacc gagggccgcc ccctgctcat ggtctttgag tatatgcggc acggggacct
     1861 caaccgcttc ctccgatccc atggacctga tgccaagctg ctggctggtg gggaggatgt
     1921 ggctccaggc cccctgggtc tggggcagct gctggccgtg gctagccagg tcgctgcggg
     1981 gatggtgtac ctggcgggtc tgcattttgt gcaccgggac ctggccacac gcaactgtct
     2041 agtgggccag ggactggtgg tcaagattgg tgattttggc atgagcaggg atatctacag
     2101 caccgactat taccgtgtgg gaggccgcac catgctgccc attcgctgga tgccgcccga
     2161 gagcatcctg taccgtaagt tcaccaccga gagcgacgtg tggagcttcg gcgtggtgct
     2221 ctgggagatc ttcacctacg gcaagcagcc ctggtaccag ctctccaaca cggaggcaat
     2281 cgactgcatc acgcagggac gtgagttgga gcggccacgt gcctgcccac cagaggtcta
     2341 cgccatcatg cggggctgct ggcagcggga gccccagcaa cgccacagca tcaaggatgt
     2401 gcacgcccgg ctgcaagccc tggcccaggc acctcctgtc tacctggatg tcctgggcta
     2461 gggggccggc ccaggggctg ggagtggtta gccggaatac tggggcctgc cctcagcatc
     2521 ccccatagct cccagcagcc ccagggtgat ctcaaagtat ctaattcacc ctcagcatgt
     2581 gggaagggac aggtgggggc tgggagtaga ggatgttcct gcttctctag gcaaggtccc
     2641 gtcatagcaa ttatatttat tatcccttg
//
