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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

DMRT1 Gene

protein-coding   GIFtS: 54
GCID: GC09P000831

Doublesex And Mab-3 Related Transcription Factor 1

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Doublesex And Mab-3 Related Transcription Factor 11 2
DMT12 3 5
DM Domain Expressed In Testis 11 2
DM Domain Expressed In Testis Protein 12 3
Doublesex- And Mab-3-Related Transcription Factor 12

External Ids:    HGNC: 29341   Entrez Gene: 17612   Ensembl: ENSG000001370907   OMIM: 6024245   UniProtKB: Q9Y5R63   

Export aliases for DMRT1 gene to outside databases

Previous GC identifers: GC09P001008 GC09P000822


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for DMRT1 Gene:
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)

GeneCards Summary for DMRT1 Gene: 
DMRT1 (doublesex and mab-3 related transcription factor 1) is a protein-coding gene. Diseases associated with DMRT1 include chromosome 9p deletion, and germ cell cancer. GO annotations related to this gene include core promoter proximal region sequence-specific DNA binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is DMRT2.

UniProtKB/Swiss-Prot: DMRT1_HUMAN, Q9Y5R6
Function: Transcription factor that plays a key role in male sex determination and differentiation by controlling
testis development and male germ cell proliferation. Plays a central role in spermatogonia by inhibiting meiosis
in undifferentiated spermatogonia and promoting mitosis, leading to spermatogonial development and allowing
abundant and continuous production of sperm. Acts both as a transcription repressor and activator: prevents
meiosis by restricting retinoic acid (RA)-dependent transcription and repressing STRA8 expression and promotes
spermatogonial development by activating spermatogonial differentiation genes, such as SOHLH1. Also plays a key
role in postnatal sex maintenance by maintaining testis determination and preventing feminization: represses
transcription of female promoting genes such as FOXL2 and activates male-specific genes. May act as a tumor
suppressor. May also play a minor role in oogenesis (By similarity)

Gene Wiki entry for DMRT1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000009.11  NC_018920.2  NT_008413.18  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the DMRT1 gene promoter:
         Egr-3   RFX1   FOXF2   Pax-5   POU3F2   C/EBPalpha   GATA-1   Evi-1   Sox9   SEF-1 (1)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDMRT1 promoter sequence
   Search SABiosciences Chromatin IP Primers for DMRT1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DMRT1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 9p24.3   Ensembl cytogenetic band:  9p24.3   HGNC cytogenetic band: 9p24.3

DMRT1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DMRT1 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09P000831:  view genomic region     (about GC identifiers)

Start:
841,690 bp from pter      End:
969,090 bp from pter
Size:
127,401 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: DMRT1_HUMAN, Q9Y5R6 (See protein sequence)
Recommended Name: Doublesex- and mab-3-related transcription factor 1  
Size: 373 amino acids; 39473 Da
Subcellular location: Nucleus (By similarity)
Developmental stage: Expressed in the genital ridges of six-week-old male embryos. Becomes confined to the forming
seminiferous tubules (probably Sertoli cells) at seven weeks. Not detected in female embryos
Secondary accessions: B2R913 Q6T1H8 Q6T1H9 Q8IW77
Alternative splicing: 3 isoforms:  Q9Y5R6-1   Q9Y5R6-2   Q9Y5R6-3   

Explore the universe of human proteins at neXtProt for DMRT1: NX_Q9Y5R6

Explore proteomics data for DMRT1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9Y5R6

  • DMRT1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    DMRT1 Protein Expression
    REFSEQ proteins: NP_068770.2  
    ENSEMBL proteins: 
     ENSP00000371711   ENSP00000454701  

    Human Recombinant Protein Products for DMRT1: 
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    OriGene Protein Over-expression Lysate for DMRT1
    OriGene MassSpec for DMRT1 
    OriGene Custom Protein Services for DMRT1
    GenScript Custom Purified and Recombinant Proteins Services for DMRT1
    Novus Biologicals DMRT1 Protein
    Novus Biologicals DMRT1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for DMRT1 

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ISS--

    DMRT1 for ontologies           About GeneDecksing



    DMRT1 Antibody Products: 
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    Abcam antibodies for DMRT1
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    ThermoFisher Antibodies for DMRT1
    LSBio Antibodies in human, mouse, rat for DMRT1 

    Assay Products for DMRT1: 
    Browse Kits and Assays available from EMD Millipore
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    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for DMRT1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for DMRT1 
    Cloud-Clone Corp. CLIAs for DMRT1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    3 InterPro protein domains:
     IPR022114 DMRT1-like
     IPR026607 DMRT/dsx/mab-3
     IPR001275 DM_DNA-bd

    Graphical View of Domain Structure for InterPro Entry Q9Y5R6

    ProtoNet protein and cluster: Q9Y5R6

    1 Blocks protein domain: IPB001275 DM DNA-binding

    UniProtKB/Swiss-Prot: DMRT1_HUMAN, Q9Y5R6
    Similarity: Belongs to the DMRT family
    Similarity: Contains 1 DM DNA-binding domain


    DMRT1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: DMRT1_HUMAN, Q9Y5R6
    Function: Transcription factor that plays a key role in male sex determination and differentiation by controlling
    testis development and male germ cell proliferation. Plays a central role in spermatogonia by inhibiting meiosis
    in undifferentiated spermatogonia and promoting mitosis, leading to spermatogonial development and allowing
    abundant and continuous production of sperm. Acts both as a transcription repressor and activator: prevents
    meiosis by restricting retinoic acid (RA)-dependent transcription and repressing STRA8 expression and promotes
    spermatogonial development by activating spermatogonial differentiation genes, such as SOHLH1. Also plays a key
    role in postnatal sex maintenance by maintaining testis determination and preventing feminization: represses
    transcription of female promoting genes such as FOXL2 and activates male-specific genes. May act as a tumor
    suppressor. May also play a minor role in oogenesis (By similarity)

         Genatlas biochemistry entry for DMRT1:
    double sex (Drosophila) and MAB-3 (C elegans) related transcription factor 1,specifically expressed in the
    testis,involved in testis development

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000987core promoter proximal region sequence-specific DNA binding ISS--
    GO:0003700sequence-specific DNA binding transcription factor activity IEA--
    GO:0043565sequence-specific DNA binding ----
    GO:0046872metal ion binding IEA--
         
    DMRT1 for ontologies           About GeneDecksing


    Phenotypes:
         2 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Dmrt1):
     endocrine/exocrine gland  reproductive system 

    DMRT1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Dmrt1tm1.1Zark for DMRT1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for DMRT1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for DMRT1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for DMRT1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for DMRT1 

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat DMRT1
    8/15 QIAGEN miScript miRNA Assays for microRNAs that regulate DMRT1 (see all 15):
    hsa-miR-579 hsa-miR-495 hsa-miR-7-2* hsa-miR-513a-3p hsa-miR-513c hsa-miR-124 hsa-miR-7-1* hsa-miR-891b
    SwitchGear 3'UTR luciferase reporter plasmidDMRT1 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for DMRT1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat DMRT1

    Gene Editing
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    Sirion Biotech Customized adenovirus for overexpression of DMRT1

    Clone
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    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for DMRT1 (see all 6)
    OriGene ORF clones in mouse, rat for DMRT1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: DMRT1 (NM_021951)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for DMRT1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DMRT1
    Sirion Biotech Customized lentivirus for stable overexpression of DMRT1 
                         Customized lentivirus expression plasmids for stable overexpression of DMRT1 

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for DMRT1
    Search LifeMap BioReagents cell lines for DMRT1
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DMRT1


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for DMRT1

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    5 Interacting proteins for DMRT1 (Q9Y5R62, 3 ENSP000003717114) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TRIM29Q141343, ENSP000003431294I2D: score=1 STRING: ENSP00000343129
    SOX9P484363, ENSP000002454794I2D: score=1 STRING: ENSP00000245479
    E2F4Q162543I2D: score=1 
    KAT2AQ928303I2D: score=1 
    --P310162MINT-8106931
    About this table

    Gene Ontology (GO): 5/17 biological process terms (GO ID links to tree view) (see all 17):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter ISS--
    GO:0000902cell morphogenesis IEA--
    GO:0002176male germ cell proliferation ISS--
    GO:0003006developmental process involved in reproduction ----
    GO:0006351transcription, DNA-dependent IEA--

    DMRT1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    DMRT1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for DMRT1

    2 Novoseek inferred chemical compound relationships for DMRT1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    dmrt 90 1 16962738 (1)
    zinc 14.6 3 17459496 (2)

    Search CenterWatch for drugs/clinical trials and news about DMRT1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for DMRT1 gene: 
    NM_021951.2  

    Unigene Cluster for DMRT1:

    Doublesex and mab-3 related transcription factor 1
    Hs.98586  [show with all ESTs]
    Unigene Representative Sequence: NM_021951
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000564322(uc003zgu.1) ENST00000382276(uc003zgv.3) ENST00000569227

    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat DMRT1
    8/15 QIAGEN miScript miRNA Assays for microRNAs that regulate DMRT1 (see all 15):
    hsa-miR-579 hsa-miR-495 hsa-miR-7-2* hsa-miR-513a-3p hsa-miR-513c hsa-miR-124 hsa-miR-7-1* hsa-miR-891b
    SwitchGear 3'UTR luciferase reporter plasmidDMRT1 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for DMRT1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat DMRT1
    Clone
    Products:
         
    OriGene clones in human, mouse for DMRT1 (see all 6)
    OriGene ORF clones in mouse, rat for DMRT1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: DMRT1 (NM_021951)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for DMRT1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DMRT1
    Sirion Biotech Customized lentivirus for stable overexpression of DMRT1 
                         Customized lentivirus expression plasmids for stable overexpression of DMRT1 
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for DMRT1
    OriGene qSTAR qPCR primer pairs in human, mouse for DMRT1
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat DMRT1
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DMRT1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DMRT1

    Additional mRNA sequence: 

    AF130728.1 AJ276801.1 AK310336.1 AK313594.1 AL162131.1 AY442914.1 AY442915.1 BC040847.1 

    4 DOTS entries:

    DT.204209  DT.102822517  DT.121145513  DT.95361852 

    24/60 AceView cDNA sequences (see all 60):

    AL162131 BI826538 AJ276801 AA432207 BC040847 AW663904 AI217960 AL043067 
    BG212041 BG202785 BG206964 BG202784 AY442914 BU567221 BG206963 AI203184 
    AW663907 AF130728 NM_021951 BG219053 BG183086 BG204801 BG185721 BG205911 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    DMRT1 expression in normal human tissues (normalized intensities)      DMRT1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TAGTTTTCAA
    DMRT1 Expression
    About this image


    DMRT1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/7 selected tissues (see all 7) fully expand
     
     Testis (Reproductive System)    fully expand to see all 6 entries
             Pre-Sertoli Cells Testis Cord
             Seminiferous Tubules
             seminal vesicle ; glandular cells   
     
     Endothelium (Cardiovascular System)
             blood vessel   
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
     
     Gall Bladder (Hepatobiliary System)
             gallbladder ; glandular cells   
     
     Gonad
             XY Germ Cells Testis Cord

    See DMRT1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for DMRT1

    SOURCE GeneReport for Unigene cluster: Hs.98586

    UniProtKB/Swiss-Prot: DMRT1_HUMAN, Q9Y5R6
    Tissue specificity: Testis-specific

        SABiosciences Custom PCR Arrays for DMRT1
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DMRT1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DMRT1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for DMRT1 gene from 5/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Dmrt11 , 5 doublesex and mab-3 related transcription factor 11, 5 84.46(n)1
    83.29(a)1
      19 (20.45 cM)5
    507961  NM_015826.51  NP_056641.21 
     255056185 
    chicken
    (Gallus gallus)
    Aves DMRT16
    doublesex- and mab-3-related transcription factor ...
    62(a)
    1 ↔ 1
    Z(25808415-25864441)
    lizard
    (Anolis carolinensis)
    Reptilia DMRT16
    Uncharacterized protein
    59(a)
    1 ↔ 1
    2(50313342-50357425)
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.293932 Danio rerio Dmrt1 mRNA, complete cds 80.93(n)    AY157561.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta dsx6
    doublesex
    11(a)
    1 → many
    3R(3750045-3793130)


    ENSEMBL Gene Tree for DMRT1 (if available)
    TreeFam Gene Tree for DMRT1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for DMRT1 gene
    DMRT22  DMRT32  DMRTA22  DMRTA12  DMRTB12  

    DMRT1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/4305 SNPs in DMRT1 are shown (see all 4305)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0099574
    ----see VAR_0099572 P L mis40--------
    VAR_0099564
    ----see VAR_0099562 R S mis40--------
    VAR_0099554
    ----see VAR_0099552 Y S mis40--------
    rs9121641,2
    C,H--792456(+) CCAGGT/GGTGTG 1 -- us2k112Minor allele frequency- G:0.00NS EA NA WA CSA 432
    rs736394351,2
    C--797501(+) AGACCC/TTGCCT 1 -- int11Minor allele frequency- T:0.50WA 2
    rs1440286171,2
    C--801887(+) TCTCt-/C/CTC 
            
    ttttt
    2 -- int1 cds10--------
    rs1996009231,2
    C--804007(+) TTTTTG/TTTTTT 1 -- int10--------
    rs595661561,2
    C--807761(+) GAAACAT/-GTAAA 1 -- int11Minor allele frequency- -:0.50CSA 2
    rs78690681,2
    C,A,H--809783(+) aaaaaA/Tatata 1 -- int13Minor allele frequency- T:0.00NA WA 6
    rs78654191,2
    C,F,A,H--809784(+) aaaatT/Atatat 1 -- int13Minor allele frequency- A:0.50NA WA 6

    HapMap Linkage Disequilibrium report for DMRT1 (841690 - 969090 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/26 variations for DMRT1 (see all 26):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2738130CNV Deletion23290073
    esv2738129CNV Deletion23290073
    esv2669007CNV Deletion23128226
    esv2738127CNV Deletion23290073
    dgv1318e199CNV Deletion23128226
    nsv436609CNV Deletion17901297
    esv1992620CNV Deletion18987734
    esv2673376CNV Deletion23128226
    esv2662589CNV Deletion23128226
    esv2570062CNV Insertion19546169


    Human Gene Mutation Database (HGMD): DMRT1
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing DMRT1
    DNA2.0 Custom Variant and Variant Library Synthesis for DMRT1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 602424    OMIM disorders: --

    UniProtKB/Swiss-Prot: DMRT1_HUMAN, Q9Y5R6
  • Testicular germ cell tumor (TGCT) [MIM:273300]: A common malignancy in males representing 95% of all
    testicular neoplasms. TGCTs have various pathologic subtypes including: unclassified intratubular germ cell
    neoplasia, seminoma (including cases with syncytiotrophoblastic cells), spermatocytic seminoma, embryonal
    carcinoma, yolk sac tumor, choriocarcinoma, and teratoma. Note=The disease may be caused by mutations affecting
    the gene represented in this entry
  • 46,XY sex reversal 4 (SRXY4) [MIM:154230]: A condition characterized by male-to-female sex reversal in
    the presence of a normal 46,XY karyotype. Patients display complete or partial gonadal dysgenesis and a
    chromosome 9p deletion. Note=The disease may be caused by mutations affecting the gene represented in this entry

  • 13 diseases for DMRT1:    About MalaCards
    chromosome 9p deletion    germ cell cancer    germinoma    dysgerminoma
    gonadal dysgenesis    cryptorchidism    germ cell tumors    seminoma
    testicular cancer    infertility    mental retardation    diabetes mellitus
    squamous cell carcinoma

    2 diseases from the University of Copenhagen DISEASES database for DMRT1:
    Gonadal dysgenesis     Testicular cancer

    DMRT1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): DMRT1
    Human Genome Epidemiology (HuGE) Navigator: DMRT1 (2 documents)

    Export disorders for DMRT1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for DMRT1 gene, integrated from 9 sources (see all 65):
    (articles sorted by number of sources associating them with DMRT1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A region of human chromosome 9p required for testis development contains two genes related to known sexual regulators. (PubMed id 10332030)1, 2, 3, 9 Raymond C.S.... Zarkower D. (1999)
    2. Evidence for evolutionary conservation of sex-determining genes. (PubMed id 9490411)1, 2, 3, 9 Raymond C.S....Zarkower D. (1998)
    3. Variants near DMRT1, TERT and ATF7IP are associated w ith testicular germ cell cancer. (PubMed id 20543847)1, 2, 4 Turnbull C....Rahman N. (2010)
    4. Transcriptional diversity of DMRT1 (dsx- and mab3-related transcription factor 1) in human testis. (PubMed id 16617334)1, 2, 9 Cheng H.H....Zhou R.J. (2006)
    5. A new submicroscopic deletion that refines the 9p region for sex reversal. (PubMed id 10857744)1, 2, 9 Calvari V.... Guioli S. (2000)
    6. A second independent locus within DMRT1 is associated with testicular germ cell tumor susceptibility. (PubMed id 21551455)1, 4 Kanetsky P.A....Nathanson K.L. (2011)
    7. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    8. DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)1, 2 Humphray S.J.... Dunham I. (2004)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    10. The DM domain protein DMRT1 is a dose-sensitive regul ator of fetal germ cell proliferation and pluripotency. (PubMed id 20007774)1, 9 Krentz A.D....Zarkower D. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    Aliases
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 1761 HGNC: 2934 AceView: DMRT1 Ensembl:ENSG00000137090 euGenes: HUgn1761
    ECgene: DMRT1 H-InvDB: DMRT1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for DMRT1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for DMRT1 gene:
    Search GeneIP for patents involving DMRT1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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