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Q9QZ59

- DMRT1_MOUSE

UniProt

Q9QZ59 - DMRT1_MOUSE

Protein

Doublesex- and mab-3-related transcription factor 1

Gene

Dmrt1

Organism
Mus musculus (Mouse)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 114 (01 Oct 2014)
      Sequence version 2 (18 Apr 2012)
      Previous versions | rss
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    Functioni

    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.7 Publications

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    DNA bindingi70 – 11647DMPROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

    1. chromatin binding Source: MGI
    2. core promoter proximal region sequence-specific DNA binding Source: UniProtKB
    3. metal ion binding Source: UniProtKB-KW
    4. protein heterodimerization activity Source: MGI
    5. protein homodimerization activity Source: MGI
    6. sequence-specific DNA binding Source: MGI
    7. sequence-specific DNA binding transcription factor activity Source: InterPro

    GO - Biological processi

    1. cell morphogenesis Source: MGI
    2. developmental process involved in reproduction Source: MGI
    3. germ cell migration Source: MGI
    4. intracellular signal transduction Source: Ensembl
    5. male germ cell proliferation Source: UniProtKB
    6. male gonad development Source: MGI
    7. male sex determination Source: UniProtKB
    8. male sex differentiation Source: UniProtKB
    9. negative regulation of meiosis Source: UniProtKB
    10. negative regulation of transcription from RNA polymerase II promoter Source: UniProtKB
    11. oocyte development Source: MGI
    12. positive regulation of male gonad development Source: MGI
    13. positive regulation of meiosis I Source: MGI
    14. positive regulation of mitosis Source: UniProtKB
    15. positive regulation of transcription from RNA polymerase II promoter Source: UniProtKB
    16. regulation of nodal signaling pathway Source: MGI
    17. Sertoli cell development Source: MGI
    18. Sertoli cell differentiation Source: UniProtKB
    19. spermatogenesis Source: MGI
    20. transcription, DNA-templated Source: UniProtKB-KW

    Keywords - Molecular functioni

    Activator, Developmental protein, Repressor

    Keywords - Biological processi

    Differentiation, Sexual differentiation, Transcription, Transcription regulation

    Keywords - Ligandi

    DNA-binding, Metal-binding, Zinc

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Doublesex- and mab-3-related transcription factor 1
    Gene namesi
    Name:Dmrt1
    OrganismiMus musculus (Mouse)
    Taxonomic identifieri10090 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
    ProteomesiUP000000589: Chromosome 19

    Organism-specific databases

    MGIiMGI:1354733. Dmrt1.

    Subcellular locationi

    Nucleus 1 PublicationPROSITE-ProRule annotation

    GO - Cellular componenti

    1. cytoplasm Source: MGI
    2. nucleus Source: UniProtKB

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Disruption phenotypei

    Severe defects in the adult testis with hypoplastic testes and disorganization of seminiferous tubules and absence of germ cells, due to pre-meiotic germ cell death in testes. Sertoli cell fail to differentiate. Female mutant mice have normal ovaries and are fertile. Dpedending on the strain backgroundm ice also show testis teratomas: deletion in 129/Sv strain causes a high incidence of teratomas, whereas these tumors do not form in C57BL/6J mutant mice. Deletion of Dmrt1 during fetal development causes postnatal Sertoli cells to lose male-promoting Sox9 and instead activation of female-promoting genes such as Foxl2, leading to reprogrammation of Sertoli cells into granulosa cells. As a consequence, theca cells form, estrogen is produced and germ cells appear feminized.3 Publications

    Keywords - Diseasei

    Tumor suppressor

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 374374Doublesex- and mab-3-related transcription factor 1PRO_0000207043Add
    BLAST

    Proteomic databases

    PaxDbiQ9QZ59.
    PRIDEiQ9QZ59.

    PTM databases

    PhosphoSiteiQ9QZ59.

    Expressioni

    Tissue specificityi

    Testis-specific. In adult testis, expressed in Sertoli cells in all regions of the seminiferous tubules. Expressed dynamically in premeiotic germ cells (spermatogonia), with high expression only in regions of the seminiferous tubule that are early in the spermatogenic cycle (at protein level). Expressed in all mitotic spermatogonia. Expression decreases with the onset of spermatogonial differentiation and disappears at the initiation of meiosis.2 Publications

    Developmental stagei

    Detected already at 9.5 dpc. At 10.5 dpc, expressed in the genital ridges of both sexes. At 14.5 dpc, during gonadal sexual differentiation, expression declines in the ovary, but is maintained in the testis, where it becomes restricted to Sertoli and germ cells in the developing seminiferous tubules of the testis. Accumulates primarily in Sertoli cells. From P1, appears in germ cells and reach high levels by P7, just before meiosis begins. From P7 through adult stage, present in Sertoli cells and undifferentiated germ cells, but not in differentiating germ cells.2 Publications

    Gene expression databases

    BgeeiQ9QZ59.
    GenevestigatoriQ9QZ59.

    Interactioni

    Protein-protein interaction databases

    IntActiQ9QZ59. 1 interaction.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9QZ59.
    SMRiQ9QZ59. Positions 68-116.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi323 – 34624Pro/Ser-richAdd
    BLAST

    Sequence similaritiesi

    Belongs to the DMRT family.Curated
    Contains 1 DM DNA-binding domain.PROSITE-ProRule annotation

    Phylogenomic databases

    eggNOGiNOG271390.
    GeneTreeiENSGT00550000074486.
    HOGENOMiHOG000059585.
    HOVERGENiHBG055845.
    InParanoidiQ9QZ59.
    OMAiECEPASE.
    OrthoDBiEOG7K3TMG.
    TreeFamiTF317837.

    Family and domain databases

    Gene3Di4.10.1040.10. 1 hit.
    InterProiIPR001275. DM_DNA-bd.
    IPR026607. DMRT/dsx/mab-3.
    IPR022114. DMRT1-like.
    [Graphical view]
    PANTHERiPTHR12322. PTHR12322. 1 hit.
    PfamiPF00751. DM. 1 hit.
    PF12374. Dmrt1. 1 hit.
    [Graphical view]
    SMARTiSM00301. DM. 1 hit.
    [Graphical view]
    SUPFAMiSSF82927. SSF82927. 1 hit.
    PROSITEiPS40000. DM_1. 1 hit.
    PS50809. DM_2. 1 hit.
    [Graphical view]

    Sequences (4)i

    Sequence statusi: Complete.

    This entry describes 4 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9QZ59-1) [UniParc]FASTAAdd to Basket

    Also known as: Dmrt1a, Dmrt1a1, Dmrt1a2, Dmrt1a3

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MPNDDTFGKP STPTEVPHAP GAPPQGKAGG YSKAAGAMAG AAGGSGAGGS    50
    GGASGSGPSG LGSGSKKSPR LPKCARCRNH GYASPLKGHK RFCMWRDCQC 100
    KKCSLIAERQ RVMAAQVALR RQQAQEEELG ISHPIPLPSA AELLVKRENN 150
    ASNPCLMAEN SSSAQPPPAS TPTPAASEGR MVIQDIPAVT SRGHMENTSD 200
    LVSDPAYYSS FYQPSLFPYY NNLYNYPQYS MALSAESSSG EVGNSLGGSP 250
    VKNSLRSLPA PYVPAQTGNQ WQMKTSESRH PVSSQYRMHS YYGPPSYLGQ 300
    SMSQIFTFEE GPSYSEAKAS VFSPPSSQDS GLVSLSSSSP MSNESSKGVL 350
    ECESASSEPS SYAVNQVLEE DEDE 374
    Length:374
    Mass (Da):39,444
    Last modified:April 18, 2012 - v2
    Checksum:iB6C4601432007C35
    GO
    Isoform 2 (identifier: Q9QZ59-2) [UniParc]FASTAAdd to Basket

    Also known as: Dmrt1b, DMR1g, Dmrt1g

    The sequence of this isoform differs from the canonical sequence as follows:
         213-374: Missing.

    Show »
    Length:212
    Mass (Da):21,891
    Checksum:i995A1A053EFC8840
    GO
    Isoform 3 (identifier: Q9QZ59-3) [UniParc]FASTAAdd to Basket

    Also known as: Dmrt1d

    The sequence of this isoform differs from the canonical sequence as follows:
         1-180: Missing.

    Show »
    Length:194
    Mass (Da):21,148
    Checksum:i69A02CDAABC2DE47
    GO
    Isoform 4 (identifier: Q9QZ59-4) [UniParc]FASTAAdd to Basket

    Also known as: Dmrt1c

    The sequence of this isoform differs from the canonical sequence as follows:
         178-374: EGRMVIQDIP...NQVLEEDEDE → DEDLREPPPS...QRELEGSSGM

    Show »
    Length:257
    Mass (Da):26,906
    Checksum:iED63F763E109DB2B
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti25 – 251Q → K in AAF12826. (PubMed:10545231)Curated
    Sequence conflicti306 – 3061F → L in CAB62040. (PubMed:10640721)Curated
    Sequence conflicti365 – 3651N → S in CAB62040. (PubMed:10640721)Curated

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 180180Missing in isoform 3. 1 PublicationVSP_042963Add
    BLAST
    Alternative sequencei178 – 374197EGRMV…EDEDE → DEDLREPPPSELPVPDALIL RASLLPGPEHVPDLYLRGRP LLLRSQSQCVLAPQQSRFWL GLPLQQLSDEQRELEGSSGM in isoform 4. 1 PublicationVSP_042964Add
    BLAST
    Alternative sequencei213 – 374162Missing in isoform 2. 1 PublicationVSP_042965Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF202778 mRNA. Translation: AAF12826.1.
    AL133300 mRNA. Translation: CAB62040.1.
    AY169785 mRNA. Translation: AAO41733.1.
    AY169786 mRNA. Translation: AAO41734.1.
    AY169787 mRNA. Translation: AAO41735.1.
    AY943925 mRNA. Translation: AAY20941.1.
    DQ530630 mRNA. Translation: ABF83854.1.
    AC132140 Genomic DNA. No translation available.
    CH466534 Genomic DNA. Translation: EDL41631.1.
    BC125474 mRNA. Translation: AAI25475.1.
    AF192561 mRNA. Translation: AAF05764.1.
    CCDSiCCDS29717.1. [Q9QZ59-1]
    RefSeqiNP_056641.2. NM_015826.5. [Q9QZ59-1]
    UniGeneiMm.391208.

    Genome annotation databases

    EnsembliENSMUST00000025755; ENSMUSP00000025755; ENSMUSG00000024837. [Q9QZ59-1]
    ENSMUST00000087525; ENSMUSP00000084803; ENSMUSG00000024837. [Q9QZ59-4]
    GeneIDi50796.
    KEGGimmu:50796.
    UCSCiuc008hbi.1. mouse.
    uc012bjv.1. mouse.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF202778 mRNA. Translation: AAF12826.1 .
    AL133300 mRNA. Translation: CAB62040.1 .
    AY169785 mRNA. Translation: AAO41733.1 .
    AY169786 mRNA. Translation: AAO41734.1 .
    AY169787 mRNA. Translation: AAO41735.1 .
    AY943925 mRNA. Translation: AAY20941.1 .
    DQ530630 mRNA. Translation: ABF83854.1 .
    AC132140 Genomic DNA. No translation available.
    CH466534 Genomic DNA. Translation: EDL41631.1 .
    BC125474 mRNA. Translation: AAI25475.1 .
    AF192561 mRNA. Translation: AAF05764.1 .
    CCDSi CCDS29717.1. [Q9QZ59-1 ]
    RefSeqi NP_056641.2. NM_015826.5. [Q9QZ59-1 ]
    UniGenei Mm.391208.

    3D structure databases

    ProteinModelPortali Q9QZ59.
    SMRi Q9QZ59. Positions 68-116.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    IntActi Q9QZ59. 1 interaction.

    PTM databases

    PhosphoSitei Q9QZ59.

    Proteomic databases

    PaxDbi Q9QZ59.
    PRIDEi Q9QZ59.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENSMUST00000025755 ; ENSMUSP00000025755 ; ENSMUSG00000024837 . [Q9QZ59-1 ]
    ENSMUST00000087525 ; ENSMUSP00000084803 ; ENSMUSG00000024837 . [Q9QZ59-4 ]
    GeneIDi 50796.
    KEGGi mmu:50796.
    UCSCi uc008hbi.1. mouse.
    uc012bjv.1. mouse.

    Organism-specific databases

    CTDi 1761.
    MGIi MGI:1354733. Dmrt1.

    Phylogenomic databases

    eggNOGi NOG271390.
    GeneTreei ENSGT00550000074486.
    HOGENOMi HOG000059585.
    HOVERGENi HBG055845.
    InParanoidi Q9QZ59.
    OMAi ECEPASE.
    OrthoDBi EOG7K3TMG.
    TreeFami TF317837.

    Miscellaneous databases

    ChiTaRSi DMRT1. mouse.
    NextBioi 307801.
    PROi Q9QZ59.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q9QZ59.
    Genevestigatori Q9QZ59.

    Family and domain databases

    Gene3Di 4.10.1040.10. 1 hit.
    InterProi IPR001275. DM_DNA-bd.
    IPR026607. DMRT/dsx/mab-3.
    IPR022114. DMRT1-like.
    [Graphical view ]
    PANTHERi PTHR12322. PTHR12322. 1 hit.
    Pfami PF00751. DM. 1 hit.
    PF12374. Dmrt1. 1 hit.
    [Graphical view ]
    SMARTi SM00301. DM. 1 hit.
    [Graphical view ]
    SUPFAMi SSF82927. SSF82927. 1 hit.
    PROSITEi PS40000. DM_1. 1 hit.
    PS50809. DM_2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Expression of Dmrt1 in the genital ridge of mouse and chicken embryos suggests a role in vertebrate sexual development."
      Raymond C.S., Kettlewell J.R., Hirsch B., Bardwell V.J., Zarkower D.
      Dev. Biol. 215:208-220(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), DEVELOPMENTAL STAGE.
      Strain: C57BL/6.
      Tissue: Testis.
    2. "The expression pattern of a mouse doublesex-related gene is consistent with a role in gonadal differentiation."
      De Grandi A., Calvari V., Bertini V., Bulfone A., Peverali G., Camerino G., Borsani G., Guioli S.
      Mech. Dev. 90:323-326(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
      Strain: BALB/c.
      Tissue: Testis.
    3. "Multiple alternative splicing of mouse Dmrt1 during gonadal differentiation."
      Lu H., Huang X., Zhang L., Guo Y., Cheng H., Zhou R.
      Biochem. Biophys. Res. Commun. 352:630-634(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2; 3 AND 4).
      Strain: Kunming.
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
      Strain: C57BL/6J.
    5. Mural R.J., Adams M.D., Myers E.W., Smith H.O., Venter J.C.
      Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Brain.
    7. Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 104-203 (ISOFORM 1).
      Tissue: Embryonic testis.
    8. "Dmrt1, a gene related to worm and fly sexual regulators, is required for mammalian testis differentiation."
      Raymond C.S., Murphy M.W., O'Sullivan M.G., Bardwell V.J., Zarkower D.
      Genes Dev. 14:2587-2595(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, DEVELOPMENTAL STAGE, DISRUPTION PHENOTYPE.
    9. "Cell type-autonomous and non-autonomous requirements for Dmrt1 in postnatal testis differentiation."
      Kim S., Bardwell V.J., Zarkower D.
      Dev. Biol. 307:314-327(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION.
    10. "The DM domain protein DMRT1 is a dose-sensitive regulator of fetal germ cell proliferation and pluripotency."
      Krentz A.D., Murphy M.W., Kim S., Cook M.S., Capel B., Zhu R., Matin A., Sarver A.L., Parker K.L., Griswold M.D., Looijenga L.H., Bardwell V.J., Zarkower D.
      Proc. Natl. Acad. Sci. U.S.A. 106:22323-22328(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, DISRUPTION PHENOTYPE.
      Strain: 129/Sv.
    11. "Genome-wide analysis of DNA binding and transcriptional regulation by the mammalian Doublesex homolog DMRT1 in the juvenile testis."
      Murphy M.W., Sarver A.L., Rice D., Hatzi K., Ye K., Melnick A., Heckert L.L., Zarkower D., Bardwell V.J.
      Proc. Natl. Acad. Sci. U.S.A. 107:13360-13365(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, DNA-BINDING.
    12. "The mammalian doublesex homolog DMRT1 is a transcriptional gatekeeper that controls the mitosis versus meiosis decision in male germ cells."
      Matson C.K., Murphy M.W., Griswold M.D., Yoshida S., Bardwell V.J., Zarkower D.
      Dev. Cell 19:612-624(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, DNA-BINDING, TISSUE SPECIFICITY.
    13. "DMRT1 promotes oogenesis by transcriptional activation of Stra8 in the mammalian fetal ovary."
      Krentz A.D., Murphy M.W., Sarver A.L., Griswold M.D., Bardwell V.J., Zarkower D.
      Dev. Biol. 356:63-70(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION.
    14. "DMRT1 prevents female reprogramming in the postnatal mammalian testis."
      Matson C.K., Murphy M.W., Sarver A.L., Griswold M.D., Bardwell V.J., Zarkower D.
      Nature 476:101-104(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, DISRUPTION PHENOTYPE.

    Entry informationi

    Entry nameiDMRT1_MOUSE
    AccessioniPrimary (citable) accession number: Q9QZ59
    Secondary accession number(s): Q19AV2
    , Q2TDQ9, Q6Y951, Q6Y953, Q9QZ37, Q9QZA4
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: December 1, 2000
    Last sequence update: April 18, 2012
    Last modified: October 1, 2014
    This is version 114 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. MGD cross-references
      Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
    2. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3