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Aliases for DMRT1 Gene

Aliases for DMRT1 Gene

  • Doublesex And Mab-3 Related Transcription Factor 1 2 3
  • DMT1 3 4 6
  • DM Domain Expressed In Testis Protein 1 3 4
  • DM Domain Expressed In Testis 1 2 3
  • 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 swyer syndrome. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and core promoter proximal region sequence-specific DNA binding. An important paralog of this gene is DMRT2.

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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for DMRT1 Gene

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

Genomic View for DMRT1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

    Alternative splice isoforms for DMRT1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DMRT1 Gene

Proteomics data for DMRT1 Gene at MOPED

Post-translational modifications for DMRT1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DMRT1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for DMRT1 Gene

Domains for DMRT1 Gene

Protein Domains for DMRT1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9Y5R6

UniProtKB/Swiss-Prot:

DMRT1_HUMAN :
  • Q9Y5R6
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:0000987 core promoter proximal region sequence-specific DNA binding ISS --
GO:0003682 chromatin binding IEA --
GO:0003700 sequence-specific DNA binding transcription factor activity IEA --
GO:0042803 protein homodimerization activity IBA --
GO:0043565 sequence-specific DNA binding --
genes like me logo Genes that share ontologies with DMRT1: view

Phenotypes for DMRT1 Gene

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

Animal Models for DMRT1 Gene

MGI Knock Outs for DMRT1:

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription 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 4
cytosol 2

Gene Ontology (GO) - Cellular Components for DMRT1 Gene

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

Pathways 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 ISS --
GO:0003006 developmental process involved in reproduction --
GO:0006351 transcription, DNA-templated IEA --
genes like me logo Genes that share ontologies with DMRT1: view

No data available for Pathways by source for DMRT1 Gene

Compounds for DMRT1 Gene

(2) Novoseek inferred chemical compound relationships for DMRT1 Gene

Compound -log(P) Hits PubMed IDs
dmrt 90 1
zinc 14.6 2
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:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for DMRT1

Primer 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 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 (51.7).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for DMRT1 Gene

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 expressions with DMRT1: view

In Situ Assay 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 35
  • 97.84 (n)
  • 97.57 (a)
DMRT1 36
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia DMRT1 35
  • 84.91 (n)
  • 85.4 (a)
DMRT1 36
  • 84 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DMRT1 35
  • 87.31 (n)
  • 87.13 (a)
DMRT1 36
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dmrt1 35
  • 83.56 (n)
  • 82.21 (a)
Dmrt1 16
Dmrt1 36
  • 82 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DMRT1 36
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DMRT1 36
  • 66 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dmrt1 35
  • 83.65 (n)
  • 81.67 (a)
chicken
(Gallus gallus)
Aves DMRT1 36
  • 66 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DMRT1 36
  • 61 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dmrt1 35
  • 66.23 (n)
  • 70.78 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8070 35
zebrafish
(Danio rerio)
Actinopterygii dmrt1 35
  • 59.59 (n)
  • 54.29 (a)
dmrt1 36
  • 50 (a)
OneToOne
Dr.29393 35
fruit fly
(Drosophila melanogaster)
Insecta dsx 36
  • 13 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea dmd-10 36
  • 18 (a)
ManyToMany
Species with no ortholog for DMRT1:
  • 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 MAF
rs166790 -- 958,746(+) GTTAA(A/T)CATTG intron-variant
rs203657 -- 952,908(+) TTTAT(A/G)TTCTT intron-variant
rs279874 -- 953,057(+) GACTG(C/G)TACAT intron-variant
rs279894 -- 968,334(-) TTAAA(C/T)CATGC utr-variant-3-prime
rs279895 -- 967,981(-) TACTG(C/G)GAAGT intron-variant

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

Variant ID Type Subtype PubMed ID
nsv891954 CNV Loss 21882294
dgv2268e1 CNV Complex 17122850
nsv892000 CNV Gain 21882294
nsv831491 CNV Gain 17160897
dgv8003n71 CNV Loss 21882294
nsv892004 CNV Gain 21882294
nsv892005 CNV Gain 21882294
dgv8004n71 CNV Loss 21882294
nsv892009 CNV Loss 21882294
nsv892010 CNV Gain 21882294
nsv510176 CNV Loss 20534489
esv2570062 CNV Insertion 19546169
esv1315505 CNV Insertion 17803354
esv2662589 CNV Deletion 23128226
esv2673376 CNV Deletion 23128226
dgv1318e199 CNV Deletion 23128226
nsv436609 CNV Deletion 17901297
esv1992620 CNV Deletion 18987734
esv2738127 CNV Deletion 23290073
esv2738129 CNV Deletion 23290073
esv2738130 CNV Deletion 23290073
nsv824814 CNV Loss 20364138
nsv892012 CNV Gain 21882294
nsv6455 CNV Loss 18451855
nsv892013 CNV Gain 21882294
esv2669007 CNV Deletion 23128226

Relevant External Links for DMRT1 Gene

HapMap Linkage Disequilibrium report
DMRT1
Human Gene Mutation Database (HGMD)
DMRT1

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

Disorders for DMRT1 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (1) Diseases for DMRT1 Gene including...

Search for DMRT1 Gene in MalaCards »

UniProtKB/Swiss-Prot

DMRT1_HUMAN
  • 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.
  • 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.

(2) University of Copenhagen DISEASES for DMRT1 Gene

Relevant External Links for DMRT1

Genetic Association Database (GAD)
DMRT1
Human Genome Epidemiology (HuGE) Navigator
DMRT1
genes like me logo Genes that share disorders with DMRT1: view

Publications for DMRT1 Gene

  1. Evidence for evolutionary conservation of sex-determining genes. (PMID: 9490411) Raymond C.S. … Zarkower D. (Nature 1998) 2 3 4 23
  2. 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 23
  3. A new submicroscopic deletion that refines the 9p region for sex reversal. (PMID: 10857744) Calvari V. … Guioli S. (Genomics 2000) 3 4 23
  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 23
  5. Variants near DMRT1, TERT and ATF7IP are associated with testicular germ cell cancer. (PMID: 20543847) Turnbull C. … Rahman N. (Nat. Genet. 2010) 3 4 48

Products for DMRT1 Gene

Sources for DMRT1 Gene

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