LOCUS       NM_032109               2694 bp    mRNA    linear   PRI 09-JUN-2024
DEFINITION  Homo sapiens orthopedia homeobox (OTP), mRNA.
ACCESSION   NM_032109 XM_937572
VERSION     NM_032109.3
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 2694)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 2694)
  AUTHORS   Yoxtheimer,L.M., Heymann,J.J., Cohen,C., Rao,R.A., Goyal,A. and
            Siddiqui,M.T.
  TITLE     Immunohistochemical analysis of OTP and NKX6.1 in neuroendocrine
            tumors of the lung and pancreas
  JOURNAL   Diagn Cytopathol 46 (12), 1010-1014 (2018)
   PUBMED   30284410
  REMARK    GeneRIF: Half of the pulmonary TC tumors expressed OTP.
REFERENCE   3  (bases 1 to 2694)
  AUTHORS   Hanley,K.Z., Dureau,Z.J., Cohen,C., Shin,D.M., Owonikoko,T.K. and
            Sica,G.L.
  TITLE     Orthopedia homeobox is preferentially expressed in typical
            carcinoids of the lung
  JOURNAL   Cancer Cytopathol 126 (4), 236-242 (2018)
   PUBMED   29316326
  REMARK    GeneRIF: Orthopedia protein (OTP) is specific for lung carcinoids
            because well-differentiated nonlung neuroendocrine tumors are
            negative for OTP. OTP preferentially stains typical carcinoids over
            atypical carcinoids
REFERENCE   4  (bases 1 to 2694)
  AUTHORS   Moir,L., Bochukova,E.G., Dumbell,R., Banks,G., Bains,R.S.,
            Nolan,P.M., Scudamore,C., Simon,M., Watson,K.A., Keogh,J.,
            Henning,E., Hendricks,A., O'Rahilly,S., Barroso,I., Sullivan,A.E.,
            Bersten,D.C., Whitelaw,M.L., Kirsch,S., Bentley,E., Farooqi,I.S.
            and Cox,R.D.
  CONSRTM   UK10K consortium
  TITLE     Disruption of the homeodomain transcription factor orthopedia
            homeobox (Otp) is associated with obesity and anxiety
  JOURNAL   Mol Metab 6 (11), 1419-1428 (2017)
   PUBMED   29107289
  REMARK    GeneRIF: We tested the functional consequences of the novel human
            OTP mutations and Q83K as well as the mouse R108W mutant; all
            affect residues that are highly conserved across species. On a
            single site response element, wild-type OTP was found to act as a
            repressor; both R108W and Q153R abolished this repression
REFERENCE   5  (bases 1 to 2694)
  AUTHORS   Nonaka,D., Papaxoinis,G. and Mansoor,W.
  TITLE     Diagnostic Utility of Orthopedia Homeobox (OTP) in Pulmonary
            Carcinoid Tumors
  JOURNAL   Am J Surg Pathol 40 (6), 738-744 (2016)
   PUBMED   26927888
  REMARK    GeneRIF: Our results suggest that OTP may serve as a useful
            diagnostic marker for lung carcinoid tumors.
REFERENCE   6  (bases 1 to 2694)
  AUTHORS   Swarts,D.R., Henfling,M.E., Van Neste,L., van Suylen,R.J.,
            Dingemans,A.M., Dinjens,W.N., Haesevoets,A., Rudelius,M.,
            Thunnissen,E., Volante,M., Van Criekinge,W., van Engeland,M.,
            Ramaekers,F.C. and Speel,E.J.
  TITLE     CD44 and OTP are strong prognostic markers for pulmonary carcinoids
  JOURNAL   Clin Cancer Res 19 (8), 2197-2207 (2013)
   PUBMED   23444222
  REMARK    GeneRIF: Data indicate that low mRNA expression levels of CD44 and
            orthopedia homeobox (OTP) and high levels of RET, were strongly
            associated with a low 20-year survival of carcinoid patients.
REFERENCE   7  (bases 1 to 2694)
  AUTHORS   Kim,M.S., Lee,J., Oh,T., Moon,Y., Chang,E., Seo,K.S., Hoehn,B.D.,
            An,S. and Lee,J.H.
  TITLE     Genome-wide identification of OTP gene as a novel methylation
            marker of breast cancer
  JOURNAL   Oncol Rep 27 (5), 1681-1688 (2012)
   PUBMED   22366991
  REMARK    GeneRIF: we successfully identified a novel gene OTP frequently
            methylated in breast cancer by genome-wide screening. Our results
            suggest that the OTP gene may play a crucial role in breast
            carcinogenesis.
REFERENCE   8  (bases 1 to 2694)
  AUTHORS   Vaquerizas,J.M., Kummerfeld,S.K., Teichmann,S.A. and Luscombe,N.M.
  TITLE     A census of human transcription factors: function, expression and
            evolution
  JOURNAL   Nat Rev Genet 10 (4), 252-263 (2009)
   PUBMED   19274049
  REMARK    Review article
REFERENCE   9  (bases 1 to 2694)
  AUTHORS   Lin,X., State,M.W., Vaccarino,F.M., Greally,J., Hass,M. and
            Leckman,J.F.
  TITLE     Identification, chromosomal assignment, and expression analysis of
            the human homeodomain-containing gene Orthopedia (OTP)
  JOURNAL   Genomics 60 (1), 96-104 (1999)
   PUBMED   10458915
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC108173.1 and BC001800.1.
            
            On Aug 2, 2019 this sequence version replaced NM_032109.2.
            
            Summary: This gene encodes a member of the homeodomain (HD) family.
            HD family proteins are helix-turn-helix transcription factors that
            play key roles in the specification of cell fates. This protein may
            function during brain development. [provided by RefSeq, Jul 2008].
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC001800.1, BE257728.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000306422.5/ ENSP00000302814.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-16                AC108173.1         44955-44970
            17-652              BC001800.1         1-636
            653-653             AC108173.1         52915-52915
            654-1461            BC001800.1         638-1445
            1462-1462           AC108173.1         53724-53724
            1463-2694           BC001800.1         1447-2678
FEATURES             Location/Qualifiers
     source          1..2694
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q14.1"
     gene            1..2694
                     /gene="OTP"
                     /note="orthopedia homeobox"
                     /db_xref="GeneID:23440"
                     /db_xref="HGNC:HGNC:8518"
                     /db_xref="MIM:604529"
     exon            1..201
                     /gene="OTP"
                     /inference="alignment:Splign:2.1.0"
     CDS             165..1142
                     /gene="OTP"
                     /note="orthopedia homolog"
                     /codon_start=1
                     /product="homeobox protein orthopedia"
                     /protein_id="NP_115485.1"
                     /db_xref="CCDS:CCDS4039.1"
                     /db_xref="GeneID:23440"
                     /db_xref="HGNC:HGNC:8518"
                     /db_xref="MIM:604529"
                     /translation="MLSHADLLDARLGMKDAAELLGHREAVKCRLGVGGSDPGGHPGD
                     LAPNSDPVEGATLLPGEDITTVGSTPASLAVSAKDPDKQPGPQGGPNPSQAGQQQGQQ
                     KQKRHRTRFTPAQLNELERSFAKTHYPDIFMREELALRIGLTESRVQVWFQNRRAKWK
                     KRKKTTNVFRAPGTLLPTPGLPQFPSAAAAAAAAMGDSLCSFHANDTRWAAAAMPGVS
                     QLPLPPALGRQQAMAQSLSQCSLAAGPPPNSMGLSNSLAGSNGAGLQSHLYQPAFPGM
                     VPASLPGPSNVSGSPQLCSSPDSSDVWRGTSIASLRRKALEHTVSMSFT"
     exon            202..611
                     /gene="OTP"
                     /inference="alignment:Splign:2.1.0"
     exon            612..2694
                     /gene="OTP"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2591..2596
                     /regulatory_class="polyA_signal_sequence"
                     /gene="OTP"
                     /note="hexamer: AATAAA"
     polyA_site      2608
                     /gene="OTP"
                     /note="major polyA site"
     regulatory      2671..2676
                     /regulatory_class="polyA_signal_sequence"
                     /gene="OTP"
                     /note="hexamer: AATAAA"
     polyA_site      2694
                     /gene="OTP"
                     /note="major polyA site"
ORIGIN      
        1 attataatgc aagaagcccc ctttttaacc acaaaccgaa ttttctttca tttaggtgat
       61 ctatatatat ctatatcgta tagcttatag cttatatcta ttttaaataa cttaaagccg
      121 ctaaaatttg ggggggaaca gctttcgccc tggagcggtg cgcgatgctg tctcatgccg
      181 acctcctgga cgccaggcta ggtatgaaag atgccgccga gcttctgggc caccgggagg
      241 cggtgaagtg taggctgggc gtggggggct ccgaccccgg gggccatccg ggggacctgg
      301 cgcccaactc tgacccagtg gagggagcca ctctgctgcc cggggaggac atcaccacag
      361 tgggctctac tccggcctcg ctggcggtga gcgccaaaga cccggacaag cagcccgggc
      421 cccagggcgg cccgaacccc agccaagccg gccagcagca gggccaacag aagcagaagc
      481 gccaccggac gcgcttcacc cccgcacagc tcaacgagtt ggagaggagc ttcgccaaga
      541 ctcactaccc cgacatcttt atgcgtgagg agctggcact gcgtatcggg ctgaccgagt
      601 cccgagtgca ggtctggttc cagaaccgac gcgccaagtg gaagaagcgc aaaaagacga
      661 ccaacgtgtt ccgtgcgccc ggcacactgc tgcccacgcc aggcctgcct cagttcccgt
      721 cggctgccgc cgccgctgcc gccgccatgg gcgacagcct gtgctctttc cacgccaacg
      781 acacccgctg ggcggcggcc gccatgcctg gcgtgtcaca gctgcctctg ccgccggcgc
      841 tgggcaggca gcaggccatg gcgcagtcgc tgtcccagtg cagcctggcg gccggtccgc
      901 cgcccaactc catgggcctg tccaacagcc tggcgggttc caacggcgcg gggctgcagt
      961 cgcacctcta ccagcccgcc ttccccggca tggtgcccgc ctccctcccc ggccccagca
     1021 acgtctccgg ttcgccccag ctctgcagct ccccggacag cagcgacgtg tggcggggca
     1081 ccagcatcgc ctccctccgc cgcaaggcgc tagagcacac agtctctatg agcttcactt
     1141 aatgcagccg cgccccggcc cgctccgccc ccagcaccgc cccgggggcc gccccgaggc
     1201 ccttccggcg cgcacccgga ccccggcgcc ctgccccgtc ccgccccggc cttcgccccg
     1261 tctcgtttcg tcctcgcctc tctcctccac tcgctcgggc tcaccccaag ccccagcccg
     1321 cgaggcctcc cctccgcctg atttcgatcg cccgcggtcc cccgtctccc ggccgcccct
     1381 cttcccttcc cacccagctg cgccctcggc tcggtctcca gcgcctcagc ccacccttcc
     1441 cgccaccctg gcctccctgc ttgcgctggc cgtgctcgcg ccctcctcct ggccttctga
     1501 cgggcggcgt tcccacccac accttcgacg cgacgcctac gacccccctc gcccgccgcc
     1561 tcccctccgg tcccctcttt ccccacactt cgcgaccctc ctcccgcgcc cggcaaaaag
     1621 tatccttccc gccattttac gtaccaggga gtcgactcag gatctgaaat cagacaccaa
     1681 tggactggtt tgtgggcaga aacacacaca ctcgcactct cgctcacgct cagacgctac
     1741 acacgcgcgc gcacagacac ggtgcaccta ggtcacacac ggacgtgttc aagggacagc
     1801 acaatgttag ggatttttgt cttaaaggag gacaagcatt gctaccaacc gcctcatctg
     1861 agggcccaac tgatatgatt tgatttatcc ttgtactctc caagctcctg tctttctttc
     1921 ctctcccacc acgctaccct tgcccagtcc acccagtcac atccgtgcag ccctctcttg
     1981 gcttgcaaga taacgctttt atttttattt tatcttattt tcattttctt aagcacaact
     2041 gtgtgagagt gtagaaggga aggcttctca ggaggaacgt gacagtggat tgggtggctg
     2101 gagtagacta aagcagtcat gtgacgagga agaggtgatc tgacccattt tgataagtct
     2161 ttataaggaa gaataaaata aacgtgtaag caaaattttc ttttgtaaaa gcaaaagcca
     2221 catctctttt ctggatcctt caggactggg gtttgtttgc ttccttttct gtttctgtct
     2281 tctcgctgct ctgtgccctt ggttgttttg tggtggtcct gtcgtccctc gtgcccctcg
     2341 gccacctgct ggcagccgat gggggcactc ggacatctac aaccctgcaa ctttgtacag
     2401 agaaacacaa tcagctcttt ctgcatgtgc tggtcaaatc caaacccaga gaacagaagc
     2461 gctttctaag aatgaacaaa tatgtgaaat aggatgtttt gtgtagataa agcattcttg
     2521 ttacatactg gtcaatttgt gatatgtttt aacttaatgt ctgtgtttat ttatggaatt
     2581 cggttttctt aataaatgtt tgagctaata taaagcatat tatttgactt ttccggacaa
     2641 gtttatatca agttaaatgt aaatggataa aataaaatca ttttcagtat gtga
//
