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Aliases for DMRT1 Gene

Aliases for DMRT1 Gene

  • Doublesex And Mab-3 Related Transcription Factor 1 2 3 5
  • DM Domain Expressed In Testis Protein 1 3 4
  • DM Domain Expressed In Testis 1 2 3
  • DMT1 3 4
  • Doublesex- And Mab-3-Related Transcription Factor 1 3
  • CT154 3

External Ids for DMRT1 Gene

Previous GeneCards Identifiers for DMRT1 Gene

  • GC09P001008
  • GC09P000822

Summaries for DMRT1 Gene

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 Testicular Germ Cell Cancer and Gonadal Dysgenesis. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and sequence-specific DNA binding. An important paralog of this gene is DMRTA1.

UniProtKB/Swiss-Prot for DMRT1 Gene

  • 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DMRT1 Gene

Genomics for DMRT1 Gene

Regulatory Elements for DMRT1 Gene

Enhancers for DMRT1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH09F000882 0.2 ENCODE 11 +41.0 41039 0.3 CTCF TCF7 ZNF384 TCF7L2 DMRT1 DMRT2 GC09P000927
GH09F000899 0.6 Ensembl ENCODE 10.7 +58.2 58154 1.2 PKNOX1 FEZF1 ZNF2 ZNF302 ZNF143 KLF7 ZNF548 ZNF263 YY2 TSHZ1 DMRT1 GC09P000927
GH09F000746 0.2 ENCODE 10.5 -95.3 -95342 0.1 ENSG00000227914 DMRT1 GC09P000774
GH09F000744 0.4 ENCODE 10.5 -96.6 -96640 1.4 TFAP4 NFIA CEBPB ZNF644 RAD21 YY1 NR2F2 POLR2A SMARCA4 ATF3 ENSG00000227914 DMRT1 GC09P000774
GH09F000747 1.4 FANTOM5 Ensembl ENCODE 10.5 -91.5 -91489 6.3 PAF1 ZNF133 JUN BHLHE40 MAX DPF2 ZNF217 GATA3 JUND SSRP1 ENSG00000227914 DMRT1 KANK1 GC09P000774
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around DMRT1 on UCSC Golden Path with GeneCards custom track

Genomic Location for DMRT1 Gene

Chromosome:
9
Start:
841,647 bp from pter
End:
969,090 bp from pter
Size:
127,444 bases
Orientation:
Plus strand

Genomic View for DMRT1 Gene

Genes around DMRT1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DMRT1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DMRT1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DMRT1 Gene

Proteins for DMRT1 Gene

  • Protein details for DMRT1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y5R6-DMRT1_HUMAN
    Recommended name:
    Doublesex- and mab-3-related transcription factor 1
    Protein Accession:
    Q9Y5R6
    Secondary Accessions:
    • B2R913
    • Q6T1H8
    • Q6T1H9
    • Q8IW77

    Protein attributes for DMRT1 Gene

    Size:
    373 amino acids
    Molecular mass:
    39473 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for DMRT1 Gene

    Alternative splice isoforms for DMRT1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DMRT1 Gene

Post-translational modifications for DMRT1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for DMRT1 Gene

Domains & Families for DMRT1 Gene

Protein Domains for DMRT1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9Y5R6

UniProtKB/Swiss-Prot:

DMRT1_HUMAN :
  • Contains 1 DM DNA-binding domain.
  • Belongs to the DMRT family.
Domain:
  • Contains 1 DM DNA-binding domain.
Family:
  • Belongs to the DMRT family.
genes like me logo Genes that share domains with DMRT1: view

No data available for Gene Families for DMRT1 Gene

Function for DMRT1 Gene

Molecular function for DMRT1 Gene

GENATLAS Biochemistry:
double sex (Drosophila) and MAB-3 (C elegans) related transcription factor 1,specifically expressed in the testis,involved in testis development
UniProtKB/Swiss-Prot 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 Ontology (GO) - Molecular Function for DMRT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IEA --
GO:0000987 core promoter proximal region sequence-specific DNA binding IEA,ISS --
GO:0001228 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding IEA --
GO:0003677 DNA binding IEA --
GO:0003682 chromatin binding IEA --
genes like me logo Genes that share ontologies with DMRT1: view
genes like me logo Genes that share phenotypes with DMRT1: view

Human Phenotype Ontology for DMRT1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for DMRT1 Gene

MGI Knock Outs for DMRT1:

Animal Model Products

Targeted motifs for DMRT1 Gene
HOMER Transcription Factor Regulatory Elements motif DMRT1
  • Consensus sequence: TWGHWACAWTGTWDC Submotif: canonical Cell Type: Testis GEO ID: GSE64892

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , miRNA and Transcription Factor Targets for DMRT1 Gene

Localization for DMRT1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DMRT1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DMRT1 Gene COMPARTMENTS Subcellular localization image for DMRT1 gene
Compartment Confidence
nucleus 5
cytosol 2

Gene Ontology (GO) - Cellular Components for DMRT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,ISS --
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with DMRT1: view

Pathways & Interactions for DMRT1 Gene

SuperPathways for DMRT1 Gene

No Data Available

Interacting Proteins for DMRT1 Gene

Gene Ontology (GO) - Biological Process for DMRT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter ISS --
GO:0000902 cell morphogenesis IEA --
GO:0002176 male germ cell proliferation IEA,ISS --
GO:0003006 developmental process involved in reproduction IEA --
GO:0006351 transcription, DNA-templated IEA --
genes like me logo Genes that share ontologies with DMRT1: view

No data available for Pathways by source and SIGNOR curated interactions for DMRT1 Gene

Drugs & Compounds for DMRT1 Gene

(1) Drugs for DMRT1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for DMRT1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with DMRT1: view

Transcripts for DMRT1 Gene

Unigene Clusters for DMRT1 Gene

Doublesex and mab-3 related transcription factor 1:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for DMRT1 Gene

No ASD Table

Relevant External Links for DMRT1 Gene

GeneLoc Exon Structure for
DMRT1
ECgene alternative splicing isoforms for
DMRT1

Expression for DMRT1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DMRT1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DMRT1 Gene

This gene is overexpressed in Testis (x51.7).

Protein differential expression in normal tissues from HIPED for DMRT1 Gene

This gene is overexpressed in Cervix (45.3) and Testis (20.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for DMRT1 Gene



Protein tissue co-expression partners for DMRT1 Gene

NURSA nuclear receptor signaling pathways regulating expression of DMRT1 Gene:

DMRT1

SOURCE GeneReport for Unigene cluster for DMRT1 Gene:

Hs.98586

mRNA Expression by UniProt/SwissProt for DMRT1 Gene:

Q9Y5R6-DMRT1_HUMAN
Tissue specificity: Testis-specific. Expressed in prostate cancer (at protein level).
genes like me logo Genes that share expression patterns with DMRT1: view

Primer Products

Orthologs for DMRT1 Gene

This gene was present in the common ancestor of animals.

Orthologs for DMRT1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DMRT1 34 35
  • 97.84 (n)
dog
(Canis familiaris)
Mammalia DMRT1 34 35
  • 87.31 (n)
cow
(Bos Taurus)
Mammalia DMRT1 34 35
  • 84.91 (n)
rat
(Rattus norvegicus)
Mammalia Dmrt1 34
  • 83.65 (n)
mouse
(Mus musculus)
Mammalia Dmrt1 34 16 35
  • 83.56 (n)
oppossum
(Monodelphis domestica)
Mammalia DMRT1 35
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DMRT1 35
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves DMRT1 35
  • 66 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DMRT1 35
  • 61 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dmrt1 34
  • 66.23 (n)
zebrafish
(Danio rerio)
Actinopterygii dmrt1 34 35
  • 59.59 (n)
Dr.29393 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8070 34
fruit fly
(Drosophila melanogaster)
Insecta dsx 35
  • 13 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea dmd-10 35
  • 18 (a)
ManyToMany
Species where no ortholog for DMRT1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for DMRT1 Gene

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

Paralogs for DMRT1 Gene

Paralogs for DMRT1 Gene

genes like me logo Genes that share paralogs with DMRT1: view

Variants for DMRT1 Gene

Sequence variations from dbSNP and Humsavar for DMRT1 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs140506267 Uncertain significance 894,044(+) CAACA(A/G)TCTAT intron-variant, reference, missense
rs10114012 -- 856,812(+) ctgcc(A/G)cactt intron-variant
rs10114052 -- 958,037(+) AAATA(C/T)TAATA intron-variant
rs10114238 -- 928,674(+) TGGGT(C/T)GGCCC intron-variant
rs10114331 -- 928,996(+) ccaag(C/T)ctggc intron-variant

Structural Variations from Database of Genomic Variants (DGV) for DMRT1 Gene

Variant ID Type Subtype PubMed ID
dgv1318e199 CNV deletion 23128226
dgv2122e212 CNV loss 25503493
dgv7371n100 CNV gain 25217958
esv1315505 CNV insertion 17803354
esv1992620 CNV deletion 18987734
esv2570062 CNV insertion 19546169
esv2662589 CNV deletion 23128226
esv2669007 CNV deletion 23128226
esv2673376 CNV deletion 23128226
esv2738127 CNV deletion 23290073
esv2738129 CNV deletion 23290073
esv2738130 CNV deletion 23290073
esv2759655 CNV loss 17122850
esv3619193 CNV gain 21293372
esv3619231 CNV gain 21293372
esv3619232 CNV loss 21293372
esv3619233 CNV loss 21293372
esv3891515 CNV loss 25118596
esv3891516 CNV gain 25118596
nsv1021740 CNV gain 25217958
nsv1023460 CNV loss 25217958
nsv1023836 CNV loss 25217958
nsv1076129 CNV deletion 25765185
nsv1128462 CNV deletion 24896259
nsv1142546 CNV tandem duplication 24896259
nsv1148604 CNV insertion 26484159
nsv436609 CNV deletion 17901297
nsv510176 OTHER sequence alteration 20534489
nsv613037 CNV gain 21841781
nsv613047 CNV gain 21841781
nsv613048 CNV loss 21841781
nsv613049 CNV loss 21841781
nsv6455 CNV deletion 18451855
nsv824814 CNV loss 20364138
nsv831491 CNV gain 17160897
nsv956123 CNV deletion 24416366

Variation tolerance for DMRT1 Gene

Residual Variation Intolerance Score: 40.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.23; 70.01% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DMRT1 Gene

Human Gene Mutation Database (HGMD)
DMRT1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DMRT1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DMRT1 Gene

Disorders for DMRT1 Gene

MalaCards: The human disease database

(8) MalaCards diseases for DMRT1 Gene - From: Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
testicular germ cell cancer
  • testicular germ cell tumor
gonadal dysgenesis
  • gonadal dysgenesis syndrome
46 xy gonadal dysgenesis
  • 46,xy sex reversal
46,xy disorder of sex development and 46,xy complete gonadal dysgenesis
  • xy disorder of sex development and xy complete gonadal dysgenesis
testicular germ cell tumor
  • male germ cell tumor, somatic
- elite association - COSMIC cancer census association via MalaCards
Search DMRT1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

DMRT1_HUMAN
  • 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. {ECO:0000269 PubMed:21048976, ECO:0000269 PubMed:9490411, ECO:0000269 PubMed:9718346}. Note=The disease may be caused by mutations affecting the gene represented in this entry.
  • 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. {ECO:0000269 PubMed:20543847}. Note=The disease may be caused by mutations affecting the gene represented in this entry.

Relevant External Links for DMRT1

Genetic Association Database (GAD)
DMRT1
Human Genome Epidemiology (HuGE) Navigator
DMRT1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DMRT1
genes like me logo Genes that share disorders with DMRT1: view

No data available for Genatlas for DMRT1 Gene

Publications for DMRT1 Gene

  1. A region of human chromosome 9p required for testis development contains two genes related to known sexual regulators. (PMID: 10332030) Raymond C.S. … Zarkower D. (Hum. Mol. Genet. 1999) 2 3 4 22 64
  2. Evidence for evolutionary conservation of sex-determining genes. (PMID: 9490411) Raymond C.S. … Zarkower D. (Nature 1998) 2 3 4 22 64
  3. Variants near DMRT1, TERT and ATF7IP are associated with testicular germ cell cancer. (PMID: 20543847) Turnbull C. … Rahman N. (Nat. Genet. 2010) 3 4 46 64
  4. Transcriptional diversity of DMRT1 (dsx- and mab3-related transcription factor 1) in human testis. (PMID: 16617334) Cheng H.H. … Zhou R.J. (Cell Res. 2006) 3 4 22 64
  5. A new submicroscopic deletion that refines the 9p region for sex reversal. (PMID: 10857744) Calvari V. … Guioli S. (Genomics 2000) 3 4 22 64

Products for DMRT1 Gene

Sources for DMRT1 Gene

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