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Q9QZ59

- DMRT1_MOUSE

UniProt

Q9QZ59 - DMRT1_MOUSE

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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

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
Complete GO annotation...

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
Complete GO annotation...

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.
ExpressionAtlasiQ9QZ59. baseline and differential.
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

        10         20         30         40         50
MPNDDTFGKP STPTEVPHAP GAPPQGKAGG YSKAAGAMAG AAGGSGAGGS
60 70 80 90 100
GGASGSGPSG LGSGSKKSPR LPKCARCRNH GYASPLKGHK RFCMWRDCQC
110 120 130 140 150
KKCSLIAERQ RVMAAQVALR RQQAQEEELG ISHPIPLPSA AELLVKRENN
160 170 180 190 200
ASNPCLMAEN SSSAQPPPAS TPTPAASEGR MVIQDIPAVT SRGHMENTSD
210 220 230 240 250
LVSDPAYYSS FYQPSLFPYY NNLYNYPQYS MALSAESSSG EVGNSLGGSP
260 270 280 290 300
VKNSLRSLPA PYVPAQTGNQ WQMKTSESRH PVSSQYRMHS YYGPPSYLGQ
310 320 330 340 350
SMSQIFTFEE GPSYSEAKAS VFSPPSSQDS GLVSLSSSSP MSNESSKGVL
360 370
ECESASSEPS SYAVNQVLEE DEDE
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:
EMBLi
GenBanki
DDBJi
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:
EMBLi
GenBanki
DDBJi
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.
ExpressionAtlasi Q9QZ59. baseline and differential.
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

« Hide 'large scale' publications
  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: November 26, 2014
This is version 116 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