LOCUS       NM_021240               2493 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens doublesex and mab-3 related transcription factor 3
            (DMRT3), mRNA.
ACCESSION   NM_021240
VERSION     NM_021240.4
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 2493)
  AUTHORS   Priyadharshini,V.S., Jimenez-Chobillon,M.A., de Graaf,J., Porras
            Gutierrez de Velasco,R., Gratziou,C., Ramirez-Jimenez,F. and
            Teran,L.M.
  TITLE     Transcriptome Analysis Identifies Doublesex and Mab-3 Related
            Transcription Factor (DMRT3) in Nasal Polyp Epithelial Cells of
            Patients Suffering from Non-Steroidal Anti-Inflammatory
            Drug-Exacerbated Respiratory Disease (AERD)
  JOURNAL   Biomolecules 11 (8), 1092 (2021)
   PUBMED   34439758
  REMARK    GeneRIF: Transcriptome Analysis Identifies Doublesex and Mab-3
            Related Transcription Factor (DMRT3) in Nasal Polyp Epithelial
            Cells of Patients Suffering from Non-Steroidal Anti-Inflammatory
            Drug-Exacerbated Respiratory Disease (AERD).
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2493)
  AUTHORS   Tsai,C.L., Tsai,C.N., Lee,Y.S., Wang,H.S., Lee,L.Y., Lin,C.Y.,
            Yang,S.Y. and Chao,A.
  TITLE     Genetic analysis of a Taiwanese family identifies a DMRT3-OAS3
            interaction that is involved in human sexual differentiation
            through the regulation of ESR1 expression
  JOURNAL   Fertil Steril 114 (1), 133-143 (2020)
   PUBMED   32553473
  REMARK    GeneRIF: Genetic analysis of a Taiwanese family identifies a
            DMRT3-OAS3 interaction that is involved in human sexual
            differentiation through the regulation of ESR1 expression.
REFERENCE   3  (bases 1 to 2493)
  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   4  (bases 1 to 2493)
  AUTHORS   Kubota,N., Yokoyama,T., Hoshi,N. and Suyama,M.
  TITLE     Identification of a candidate enhancer for DMRT3 involved in
            spastic cerebral palsy pathogenesis
  JOURNAL   Biochem Biophys Res Commun 496 (1), 133-139 (2018)
   PUBMED   29305858
  REMARK    GeneRIF: Thus, the deletion of the cis-regulatory element for DMRT3
            in humans may cause impaired development of the forebrain and gait
            abnormalities, resulting in spastic CP. In conclusion, this study
            provides new mechanistic insights into the genetic basis of CP.
REFERENCE   5  (bases 1 to 2493)
  AUTHORS   Yin,Y., Morgunova,E., Jolma,A., Kaasinen,E., Sahu,B.,
            Khund-Sayeed,S., Das,P.K., Kivioja,T., Dave,K., Zhong,F.,
            Nitta,K.R., Taipale,M., Popov,A., Ginno,P.A., Domcke,S., Yan,J.,
            Schubeler,D., Vinson,C. and Taipale,J.
  TITLE     Impact of cytosine methylation on DNA binding specificities of
            human transcription factors
  JOURNAL   Science 356 (6337) (2017)
   PUBMED   28473536
REFERENCE   6  (bases 1 to 2493)
  AUTHORS   Kang,J.U., Koo,S.H., Kwon,K.C. and Park,J.W.
  TITLE     Frequent silence of chromosome 9p, homozygous DOCK8, DMRT1 and
            DMRT3 deletion at 9p24.3 in squamous cell carcinoma of the lung
  JOURNAL   Int J Oncol 37 (2), 327-335 (2010)
   PUBMED   20596660
  REMARK    GeneRIF: Chromosome 9p loss is the hallmark of squamous cell
            carcinoma, and DMRT1, DMRT3 and DOCK8 genes at 9p24.3 might be of
            interest for the study of the pathophysiology of SCC as potential
            targets for therapeutic measures.
REFERENCE   7  (bases 1 to 2493)
  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   8  (bases 1 to 2493)
  AUTHORS   Ottolenghi,C., Fellous,M., Barbieri,M. and McElreavey,K.
  TITLE     Novel paralogy relations among human chromosomes support a link
            between the phylogeny of doublesex-related genes and the evolution
            of sex determination
  JOURNAL   Genomics 79 (3), 333-343 (2002)
   PUBMED   11863363
REFERENCE   9  (bases 1 to 2493)
  AUTHORS   Brunner,B., Hornung,U., Shan,Z., Nanda,I., Kondo,M.,
            Zend-Ajusch,E., Haaf,T., Ropers,H.H., Shima,A., Schmid,M.,
            Kalscheuer,V.M. and Schartl,M.
  TITLE     Genomic organization and expression of the doublesex-related gene
            cluster in vertebrates and detection of putative regulatory regions
            for DMRT1
  JOURNAL   Genomics 77 (1-2), 8-17 (2001)
   PUBMED   11543627
REFERENCE   10 (bases 1 to 2493)
  AUTHORS   Ottolenghi,C., Veitia,R., Quintana-Murci,L., Torchard,D.,
            Scapoli,L., Souleyreau-Therville,N., Beckmann,J., Fellous,M. and
            McElreavey,K.
  TITLE     The region on 9p associated with 46,XY sex reversal contains
            several transcripts expressed in the urogenital system and a novel
            doublesex-related domain
  JOURNAL   Genomics 64 (2), 170-178 (2000)
   PUBMED   10729223
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL136365.9, BC113584.1, AF193873.1 and AI052121.1.
            
            On Nov 24, 2018 this sequence version replaced NM_021240.3.
            
            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 :: AF193873.1, BC113584.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000190165.3/ ENSP00000190165.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-313               AL136365.9         154509-154821
            314-1832            BC113584.1         1-1519
            1833-2492           AF193873.1         1101-1760
            2493-2493           AI052121.1         21-21               c
FEATURES             Location/Qualifiers
     source          1..2493
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9p24.3"
     gene            1..2493
                     /gene="DMRT3"
                     /gene_synonym="DMRTA3"
                     /note="doublesex and mab-3 related transcription factor 3"
                     /db_xref="GeneID:58524"
                     /db_xref="HGNC:HGNC:13909"
                     /db_xref="MIM:614754"
     exon            1..801
                     /gene="DMRT3"
                     /gene_synonym="DMRTA3"
                     /inference="alignment:Splign:2.1.0"
     CDS             348..1766
                     /gene="DMRT3"
                     /gene_synonym="DMRTA3"
                     /note="testis-specific protein; DMRT-like family A3"
                     /codon_start=1
                     /product="doublesex- and mab-3-related transcription
                     factor 3"
                     /protein_id="NP_067063.1"
                     /db_xref="CCDS:CCDS6443.1"
                     /db_xref="GeneID:58524"
                     /db_xref="HGNC:HGNC:13909"
                     /db_xref="MIM:614754"
                     /translation="MNGYGSPYLYMGGPVSQPPRAPLQRTPKCARCRNHGVLSWLKGH
                     KRYCRFKDCTCEKCILIIERQRVMAAQVALRRQQANESLESLIPDSLRALPGPPPPGD
                     AVAAPQPPPASQPSQPQPPRPAAELAAAAALRWTAEPQPGALQAQLAKPDLTEERLGD
                     GKSADNTEVFSDKDTDQRSSPDVAKSKGCFTPESPEIVSVEEGGYAVQKNGGNPESRP
                     DSPKCHAEQNHLLIEGPSGTVSLPFSLKANRPPLEVLKKIFPNQKPTVLELILKGCGG
                     DLVSAVEVLLSSRSSVTGAERTSAEPESLALPSNGHIFEHTLSSYPISSSKWSVGSAF
                     RVPDTLRFSADSSNVVPSPLAGPLQPPFPQPPRYPLMLRNTLARSQSSPFLPNDVTLW
                     NTMTLQQQYQLRSQYVSPFPSNSTSVFRSSPVLPARATEDPRISIPDDGCPFVSKQSI
                     YTEDDYDERSDSSDSRTLNTSS"
     exon            802..2493
                     /gene="DMRT3"
                     /gene_synonym="DMRTA3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1904..1909
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DMRT3"
                     /gene_synonym="DMRTA3"
                     /note="hexamer: AATAAA"
     polyA_site      1925
                     /gene="DMRT3"
                     /gene_synonym="DMRTA3"
     regulatory      2475..2480
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DMRT3"
                     /gene_synonym="DMRTA3"
                     /note="hexamer: AATAAA"
     polyA_site      2493
                     /gene="DMRT3"
                     /gene_synonym="DMRTA3"
                     /note="major polyA site"
ORIGIN      
        1 gcagaagagc tggctcagac cttaatcaga gctgtcgccg gctccttgca gccgccgcag
       61 cgcctccgcg aaggaggacg tgccgacccg gctgcgcgcc caaggcagag gcccgcgtcg
      121 gcgttggctg ggcgtgagct gggaggccga gctgtgagcg cgaagggagc tggagagacg
      181 actgcggcac ctccggccgc cccggagcac acacgaccac cggggctgcg ggaccaaggg
      241 ccgcgtcgcc cggaggccgc ccctgagcgg gcctcgcagc cccgccgtcc agcgctccct
      301 ggccctctcc cgcagccagg ctgccaactc attcgggagc ccggggcatg aacggctacg
      361 gctcccccta cctgtacatg ggcggcccgg tgtcgcagcc gccacgggcg cccctgcagc
      421 gcacgcccaa gtgcgcgcgc tgccgcaacc atggcgtcct gtcctggctc aagggccaca
      481 agcgttactg ccgcttcaag gactgcacct gcgagaagtg catcctcatc atcgagcggc
      541 agcgggtcat ggctgcgcag gtggcgctgc gccggcagca ggccaacgag agcttggaga
      601 gcctcatccc cgactcgctg cgcgctctgc cagggccccc gccgccgggg gacgccgtcg
      661 ccgccccgca gccgccgcca gcctctcagc cgtcgcagcc gcagccgccg cgccctgctg
      721 ccgagttggc cgcggccgcc gcgctgcgtt ggactgccga gccgcagccc ggggctctgc
      781 aggcgcagct cgccaagcca gatttgactg aagaacgact tggagacggc aagtcggcag
      841 acaatacaga ggtcttcagt gacaaagaca ctgaccagag gagttcccca gatgtggcaa
      901 agagtaaggg ctgcttcacc cctgagagcc ctgagatagt gtccgtggag gaagggggat
      961 acgctgtcca gaaaaacgga ggcaaccccg agagccgccc tgacagcccc aagtgtcacg
     1021 cggagcagaa tcacctcctg attgagggcc cctcggggac tgtttctctg cccttcagct
     1081 tgaaagccaa cagaccgccg cttgaagtgt taaaaaagat attccccaac cagaagccaa
     1141 cggtgcttga gctcatcctc aagggctgtg gcggggacct ggtgagcgcc gtggaagtcc
     1201 ttctgtccag ccgatcctca gtcacgggag cagagcgaac ttccgcagaa cctgagagtc
     1261 tagcgttgcc ctccaatggg cacatctttg aacacacctt gagctcctac cccatctcgt
     1321 cttccaaatg gtctgtggga tcagcctttc gagtcccaga cacgttgagg ttttctgccg
     1381 actctagcaa cgttgtcccc agtcccttgg ctgggcctct gcagccccct ttcccccagc
     1441 caccccggta cccgctgatg ctgaggaata ctttggcgag aagccagtcg agcccctttt
     1501 tgcccaatga tgtcaccctg tggaacacca tgacgctgca gcagcagtat cagctgaggt
     1561 cccagtatgt cagtcctttc cccagtaact ctaccagcgt cttcagaagc tcgcccgtcc
     1621 ttcctgcccg cgccacggaa gaccctcgga tttccatccc tgatgatggg tgtccatttg
     1681 tgtcaaagca gtccatttac accgaggacg actatgacga gaggtctgac tcctcagact
     1741 ctagaacact caacacatca tcttaaagtg gtgctggatg ggtggtggcc aggtgacatt
     1801 ttctgtgcgt tttgaccctg aggcatctga ggagaggcca catcttgtgt atgccctttc
     1861 cttctgtttg acaaagtgac tgtgcttgat tctatacatt agcaataaaa acataactta
     1921 tttaacttct tgcacttcac tggaaaatgc caaatagctc tgttctgtgg ctttagtgct
     1981 gaatgtttat tgtaaaagag agtctaatgt taagaatagt cttgggaagg ctgggtccgt
     2041 ggaagattta tttggggatg taaagctgaa ggtcagcctt gcacctaaac ccaacctgga
     2101 atgttaaatg aaataatata cttgaatgca attttgtaaa agtggattcc tcaggatatg
     2161 tgaaacctaa aggaagtggt tctgttgcaa atggactata aacagggaca ttatattctt
     2221 acactaaaaa tccttgcatt ttaaagagag atgcacttaa gaatagagtg aactgctcat
     2281 atgcttattt aagcttggac agttttcaga gacaaacccc attaagaatt actcttttca
     2341 catggctgaa tcgaaacatg tgtaatgtca atgtaaaacc aatcacagct gtgaactgca
     2401 tgaaatgtat tgtgaaacga acacaagatt aagctttgtc aggttaatgt agcatgttaa
     2461 ggactctaga aaaaaataaa ctaaggagac gag
//
