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    DMRT1 doublesex and mab-3 related transcription factor 1 [ Homo sapiens (human) ]

    Gene ID: 1761, updated on 12-Mar-2017
    Official Symbol
    DMRT1provided by HGNC
    Official Full Name
    doublesex and mab-3 related transcription factor 1provided by HGNC
    Primary source
    HGNC:HGNC:2934
    See related
    Ensembl:ENSG00000137090 MIM:602424; Vega:OTTHUMG00000019435
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DMT1; CT154
    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]
    Orthologs
    Location:
    9p24.3
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 9 NC_000009.12 (841647..969090)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (841690..969090)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene KN motif and ankyrin repeat domains 1 Neighboring gene phosphatidylinositol 4,5-bisphosphate 5-phosphatase A-like Neighboring gene uncharacterized LOC105375949 Neighboring gene RNA, U6 small nuclear 1073, pseudogene Neighboring gene doublesex and mab-3 related transcription factor 3

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated (2012-06-06)

    ClinGen Genome Curation Page
    Haploinsufficency

    Some evidence for dosage pathogenicity (Last evaluated (2012-06-06)

    ClinGen Genome Curation PagePubMed

    NHGRI GWAS Catalog

    Description
    A second independent locus within DMRT1 is associated with testicular germ cell tumor susceptibility.
    NHGRI GWA Catalog
    Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies.
    NHGRI GWA Catalog
    Identification of nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14.
    NHGRI GWA Catalog
    Meta-analysis identifies four new loci associated with testicular germ cell tumor.
    NHGRI GWA Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    NHGRI GWA Catalog
    Variants near DMRT1, TERT and ATF7IP are associated with testicular germ cell cancer.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    RNA polymerase II regulatory region sequence-specific DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    chromatin binding IEA
    Inferred from Electronic Annotation
    more info
     
    core promoter proximal region sequence-specific DNA binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein heterodimerization activity IEA
    Inferred from Electronic Annotation
    more info
     
    protein homodimerization activity IEA
    Inferred from Electronic Annotation
    more info
     
    transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    Sertoli cell development IEA
    Inferred from Electronic Annotation
    more info
     
    Sertoli cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cell morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    germ cell migration IEA
    Inferred from Electronic Annotation
    more info
     
    intracellular signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    male germ cell proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    male sex determination ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    male sex differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of meiotic nuclear division ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of transcription from RNA polymerase II promoter ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    oocyte development IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of male gonad development IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of meiosis I IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of mitotic nuclear division ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of transcription from RNA polymerase II promoter ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of nodal signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    spermatogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    transcription from RNA polymerase II promoter IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Preferred Names
    doublesex- and mab-3-related transcription factor 1
    Names
    DM domain expressed in testis 1
    DM domain expressed in testis protein 1

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_009221.1 RefSeqGene

      Range
      5001..132401
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_021951.2NP_068770.2  doublesex- and mab-3-related transcription factor 1

      See identical proteins and their annotated locations for NP_068770.2

      Status: REVIEWED

      Source sequence(s)
      AF130728, BC040847, BG202785
      Consensus CDS
      CCDS6442.1
      UniProtKB/Swiss-Prot
      Q9Y5R6
      Related
      ENSP00000371711, OTTHUMP00000020961, ENST00000382276, OTTHUMT00000051489
      Conserved Domains (2) summary
      pfam00751
      Location:72118
      DM; DM DNA binding domain
      pfam12374
      Location:130202
      Dmrt1; Double-sex mab3 related transcription factor 1

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p7 Primary Assembly

      Range
      841647..969090
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006716732.1XP_006716795.1  doublesex- and mab-3-related transcription factor 1 isoform X3

      Conserved Domains (2) summary
      pfam00751
      Location:72118
      DM; DM DNA binding domain
      pfam12374
      Location:130202
      Dmrt1; Double-sex mab3 related transcription factor 1
    2. XM_017014375.1XP_016869864.1  doublesex- and mab-3-related transcription factor 1 isoform X7

    3. XM_011517770.1XP_011516072.1  doublesex- and mab-3-related transcription factor 1 isoform X1

      Conserved Domains (1) summary
      pfam12374
      Location:146218
      Dmrt1; Double-sex mab3 related transcription factor 1
    4. XM_011517771.1XP_011516073.1  doublesex- and mab-3-related transcription factor 1 isoform X2

      Conserved Domains (1) summary
      pfam12374
      Location:146218
      Dmrt1; Double-sex mab3 related transcription factor 1
    5. XM_011517772.1XP_011516074.1  doublesex- and mab-3-related transcription factor 1 isoform X4

      Conserved Domains (1) summary
      pfam12374
      Location:146218
      Dmrt1; Double-sex mab3 related transcription factor 1
    6. XM_017014374.1XP_016869863.1  doublesex- and mab-3-related transcription factor 1 isoform X5

    7. XM_011517773.2XP_011516075.1  doublesex- and mab-3-related transcription factor 1 isoform X6

      Related
      ENSP00000454701, OTTHUMP00000249468, ENST00000569227, OTTHUMT00000420764
      Conserved Domains (1) summary
      pfam12374
      Location:144
      Dmrt1; Double-sex mab3 related transcription factor 1

    Alternate CHM1_1.1

    Genomic

    1. NC_018920.2 Alternate CHM1_1.1

      Range
      841466..969267
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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