LOCUS       NM_021951               2215 bp    mRNA    linear   PRI 12-NOV-2024
DEFINITION  Homo sapiens doublesex and mab-3 related transcription factor 1
            (DMRT1), transcript variant 1, mRNA.
ACCESSION   NM_021951
VERSION     NM_021951.3
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 2215)
  AUTHORS   Ishikawa,N., Fujitani,K., Okano,N., Hayashi,S., Sakabe,N.,
            Inazumi,S., Okuyama,H., Seki,K., Suda,K., Tsukamoto,D., Matsuo,T.,
            Tamura,K. and Ito,M.
  TITLE     Diversity of transactivation regions of DMRT1 in vertebrates
  JOURNAL   Mol Biol Rep 51 (1), 1077 (2024)
   PUBMED   39432160
  REMARK    GeneRIF: Diversity of transactivation regions of DMRT1 in
            vertebrates.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2215)
  AUTHORS   Irie,N., Lee,S.M., Lorenzi,V., Xu,H., Chen,J., Inoue,M.,
            Kobayashi,T., Sancho-Serra,C., Drousioti,E., Dietmann,S.,
            Vento-Tormo,R., Song,C.X. and Surani,M.A.
  TITLE     DMRT1 regulates human germline commitment
  JOURNAL   Nat Cell Biol 25 (10), 1439-1452 (2023)
   PUBMED   37709822
  REMARK    GeneRIF: DMRT1 regulates human germline commitment.
REFERENCE   3  (bases 1 to 2215)
  AUTHORS   Emich,J., Gaikwad,A.S., Stallmeyer,B., Fietz,D., Schuppe,H.C.,
            Oud,M.S., Kliesch,S., Gromoll,J., Friedrich,C. and Tuttelmann,F.
  TITLE     Functional assessment of DMRT1 variants and their pathogenicity for
            isolated male infertility
  JOURNAL   Fertil Steril 119 (2), 219-228 (2023)
   PUBMED   36572623
  REMARK    GeneRIF: Functional assessment of DMRT1 variants and their
            pathogenicity for isolated male infertility.
REFERENCE   4  (bases 1 to 2215)
  AUTHORS   Roth,L.M., Michal,M., Michal,M. Jr. and Cheng,L.
  TITLE     Protein expression of the transcription factors DMRT1, TCLF5, and
            OCT4 in selected germ cell neoplasms of the testis
  JOURNAL   Hum Pathol 82, 68-75 (2018)
   PUBMED   30067948
  REMARK    GeneRIF: Report differential expression of DMRT1 in normal human
            spermatogenesis, testicular mixed germ cell-sex cord stromal tumor,
            spermatocytic tumor, and seminoma.
REFERENCE   5  (bases 1 to 2215)
  AUTHORS   Macdonald,J., Kilcoyne,K.R., Sharpe,R.M., Kavanagh,A.,
            Anderson,R.A., Brown,P., Smith,L.B., Jorgensen,A. and Mitchell,R.T.
  TITLE     DMRT1 repression using a novel approach to genetic manipulation
            induces testicular dysgenesis in human fetal gonads
  JOURNAL   Hum Reprod 33 (11), 2107-2121 (2018)
   PUBMED   30272154
  REMARK    GeneRIF: DMRT1 is required for testicular differentiation in
            humans. DMRT1 repression results in alterations in expression of
            key genes involved in gonadal development.  Repression of DMRT1
            results in focal dysgenesis in the human fetal testis
REFERENCE   6  (bases 1 to 2215)
  AUTHORS   Calvari,V., Bertini,V., De Grandi,A., Peverali,G., Zuffardi,O.,
            Ferguson-Smith,M., Knudtzon,J., Camerino,G., Borsani,G. and
            Guioli,S.
  TITLE     A new submicroscopic deletion that refines the 9p region for sex
            reversal
  JOURNAL   Genomics 65 (3), 203-212 (2000)
   PUBMED   10857744
REFERENCE   7  (bases 1 to 2215)
  AUTHORS   Smith,C.A., McClive,P.J., Western,P.S., Reed,K.J. and Sinclair,A.H.
  TITLE     Conservation of a sex-determining gene
  JOURNAL   Nature 402 (6762), 601-602 (1999)
   PUBMED   10604464
REFERENCE   8  (bases 1 to 2215)
  AUTHORS   Raymond,C.S., Parker,E.D., Kettlewell,J.R., Brown,L.G., Page,D.C.,
            Kusz,K., Jaruzelska,J., Reinberg,Y., Flejter,W.L., Bardwell,V.J.,
            Hirsch,B. and Zarkower,D.
  TITLE     A region of human chromosome 9p required for testis development
            contains two genes related to known sexual regulators
  JOURNAL   Hum Mol Genet 8 (6), 989-996 (1999)
   PUBMED   10332030
REFERENCE   9  (bases 1 to 2215)
  AUTHORS   Raymond,C.S., Shamu,C.E., Shen,M.M., Seifert,K.J., Hirsch,B.,
            Hodgkin,J. and Zarkower,D.
  TITLE     Evidence for evolutionary conservation of sex-determining genes
  JOURNAL   Nature 391 (6668), 691-695 (1998)
   PUBMED   9490411
REFERENCE   10 (bases 1 to 2215)
  AUTHORS   Mohnach,L., Fechner,P.Y. and Keegan,C.E.
  TITLE     Nonsyndromic Disorders of Testicular Development Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301714
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF130728.1, BC040847.1 and
            BG202785.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_021951.2.
            
            Summary: This gene is found in a cluster with two other members of
            the gene family, having in common a zinc finger-like DNA-binding
            motif (DM domain). The DM domain is an ancient, conserved component
            of the vertebrate sex-determining pathway that is also a key
            regulator of male development in flies and nematodes. This gene
            exhibits a gonad-specific and sexually dimorphic expression
            pattern. Defective testicular development and XY feminization occur
            when this gene is hemizygous. [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 :: AF130728.1, SRR5189667.359465.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2148093
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000382276.8/ ENSP00000371711.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-106               AF130728.1         8-113
            107-1458            BC040847.1         1-1352
            1459-1654           BG202785.1         352-547
            1655-2215           BC040847.1         1548-2108
FEATURES             Location/Qualifiers
     source          1..2215
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9p24.3"
     gene            1..2215
                     /gene="DMRT1"
                     /gene_synonym="CT154; DMT1"
                     /note="doublesex and mab-3 related transcription factor 1"
                     /db_xref="GeneID:1761"
                     /db_xref="HGNC:HGNC:2934"
                     /db_xref="MIM:602424"
     exon            1..496
                     /gene="DMRT1"
                     /gene_synonym="CT154; DMT1"
                     /inference="alignment:Splign:2.1.0"
     CDS             143..1264
                     /gene="DMRT1"
                     /gene_synonym="CT154; DMT1"
                     /note="isoform 1 is encoded by transcript variant 1; DM
                     domain expressed in testis 1; DM domain expressed in
                     testis protein 1"
                     /codon_start=1
                     /product="doublesex- and mab-3-related transcription
                     factor 1 isoform 1"
                     /protein_id="NP_068770.2"
                     /db_xref="CCDS:CCDS6442.1"
                     /db_xref="GeneID:1761"
                     /db_xref="HGNC:HGNC:2934"
                     /db_xref="MIM:602424"
                     /translation="MPNDEAFSKPSTPSEAPHAPGVPPQGRAGGFGKASGALVGAASG
                     SSAGGSSRGGGSGSGASDLGAGSKKSPRLPKCARCRNHGYASPLKGHKRFCMWRDCQC
                     KKCNLIAERQRVMAAQVALRRQQAQEEELGISHPIPLPSAAELLVKRENNGSNPCLMT
                     ECSGTSQPPPASVPTTAASEGRMVIQDIPAVTSRGHVENTPDLVSDSTYYSSFYQPSL
                     FPYYNNLYNCPQYSMALAADSASGEVGNPLGGSPVKNSLRGLPGPYVPGQTGNQWQMK
                     NMENRHAMSSQYRMHSYYPPPSYLGQSVPQFFTFEDAPSYPEARASVFSPPSSQDSGL
                     VSLSSSSPISNKSTKAVLECEPASEPSSFTVTPVIEEDE"
     exon            497..680
                     /gene="DMRT1"
                     /gene_synonym="CT154; DMT1"
                     /inference="alignment:Splign:2.1.0"
     exon            681..964
                     /gene="DMRT1"
                     /gene_synonym="CT154; DMT1"
                     /inference="alignment:Splign:2.1.0"
     exon            965..1109
                     /gene="DMRT1"
                     /gene_synonym="CT154; DMT1"
                     /inference="alignment:Splign:2.1.0"
     exon            1110..2215
                     /gene="DMRT1"
                     /gene_synonym="CT154; DMT1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2191..2196
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DMRT1"
                     /gene_synonym="CT154; DMT1"
                     /note="hexamer: AATAAA"
     polyA_site      2215
                     /gene="DMRT1"
                     /gene_synonym="CT154; DMT1"
                     /note="major polyA site"
ORIGIN      
        1 actccagctg cgcctccggc tgcagcgcac acgtctcctg cgcctcctcc tccggagcgt
       61 cgctgtccgt cgggttcatc cctcgcagca gtctccaggc gagagagggg gccagagtgc
      121 tcgcacttct cctaggggca ccatgcccaa cgacgaggca ttcagcaagc cctctacacc
      181 gtcggaagcc cctcacgccc ccggggtacc gccgcagggc agagccgggg gctttggcaa
      241 agcgtctggg gcgctagtgg gggcggccag cggctcgagc gccgggggca gcagcagagg
      301 aggcggctcc ggctccgggg cgtcggacct gggtgccggg agcaagaagt ccccgcggct
      361 gcccaagtgc gcacgctgca ggaaccacgg ctacgcctcg ccgctcaagg gccacaagcg
      421 cttctgcatg tggcgcgact gccagtgcaa gaagtgcaac ctgatcgccg agaggcagcg
      481 cgtgatggcc gcgcaggtgg ccctgagaag gcagcaggcc caggaggagg aattgggtat
      541 cagccacccc atcccactgc ccagtgcggc cgagctgctt gtcaaaagag agaacaatgg
      601 cagtaacccg tgcctcatga ctgagtgcag tggcacctct cagccaccgc cggccagtgt
      661 ccccaccact gcagcttcag agggacgtat ggtcatccag gatattcctg ctgtcaccag
      721 cagagggcat gtggagaaca cacctgacct ggtttcagac tccacctact acagcagctt
      781 ctaccagccg tctctgtttc cttattacaa caatctatac aactgcccgc agtactccat
      841 ggccttggct gctgattctg cttctgggga ggtgggaaat cccctcgggg gatcccctgt
      901 gaagaacagc cttcggggcc tccccggacc ttatgtgcct ggtcagacag gaaaccagtg
      961 gcagatgaag aacatggaga accgccatgc aatgagctcc cagtacagga tgcattctta
     1021 ctacccgcct ccctcttacc tgggccagag cgtgccccag ttcttcactt ttgaggatgc
     1081 tccctcttac ccggaagcca gggcgagcgt attctcgccg cccagcagtc aagattctgg
     1141 cttggtttcc ctctcgagca gctctcctat tagtaacaag agcacaaagg cagtgcttga
     1201 atgtgagcct gcgtcggagc ccagcagctt cacagtcact cccgtcatcg aggaggacga
     1261 gtgagcagtg cctgctgccg atggcggttc acttggagta acaggcttat tccactttcc
     1321 atggggtttg ttaatatttt gcattgactc atactatctt aactgttgag aacgtatttg
     1381 gtttatattc cttagagttt agtccagagg ctgtaacaca tttgtaatac tttagggtcc
     1441 gtgactacca tctgcatggt ttaagtgctt tactcacgga gtttaaataa tagtgttcat
     1501 ttttttaatg acactggttt catgtagttt tcaagaaata aaagaattca ttcaagtgaa
     1561 gccatttgtg tgcctctaaa tgagtcatct aattagatgt tacttttagt tttaaaatga
     1621 aatcttaggt gccttagggg tttttttttt ttttaagtat tttttaaaaa cctgcaaaga
     1681 tataaattta gccaagttac ctgacgggtg agaagaaaag agcaggcaaa attagtgatt
     1741 tttttagaag tctgctaaat ggatatattg tgtgtgttgc tgttggaaat agccccaccc
     1801 catcctccca atccaaaacg taactgaaat ataatcagaa acattaaagc ctgtaaaaaa
     1861 aaattgctgc gtttttggta aagggtgtaa tttgtaaaca gtgcaattta aagtgacctt
     1921 agtgatgcag agttcctgag tggtgtttgt agaatgagtt tatcatacat tctttctact
     1981 actggaaaaa aatggatgca gtctggactg ttgtaacctt aggttgtaat ctgatttgga
     2041 aataagtaca tctttaaaag ttgctacaga tttgagttca tgattttgtt aaaaattgct
     2101 atggagtact ttgttatata acagaagcca tcctgaaatg aaactagtct aaaaaaattc
     2161 attgttctac ttagttgcag ctgtacctga aataaaaatg ttattgatga ctgaa
//
