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Protein

Doublesex- and mab-3-related transcription factor 1

Gene

Dmrt1

Organism
Mus musculus (Mouse)
Status
Reviewed-Annotation score: -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)DescriptionActionsGraphical viewLength
DNA bindingi70 – 116DMPROSITE-ProRule annotationAdd BLAST47

GO - Molecular functioni

  • chromatin binding Source: MGI
  • identical protein binding Source: MGI
  • metal ion binding Source: UniProtKB-KW
  • protein heterodimerization activity Source: MGI
  • protein homodimerization activity Source: MGI
  • proximal promoter sequence-specific DNA binding Source: UniProtKB
  • RNA polymerase II regulatory region sequence-specific DNA binding Source: NTNU_SB
  • sequence-specific DNA binding Source: MGI
  • transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding Source: NTNU_SB

GO - Biological processi

  • cell morphogenesis Source: MGI
  • developmental process involved in reproduction Source: MGI
  • germ cell migration Source: MGI
  • intracellular signal transduction Source: Ensembl
  • male germ cell proliferation Source: UniProtKB
  • male gonad development Source: MGI
  • male sex determination Source: UniProtKB
  • male sex differentiation Source: UniProtKB
  • negative regulation of meiotic nuclear division Source: UniProtKB
  • negative regulation of transcription by RNA polymerase II Source: UniProtKB
  • oocyte development Source: MGI
  • positive regulation of male gonad development Source: MGI
  • positive regulation of meiosis I Source: MGI
  • positive regulation of mitotic nuclear division Source: UniProtKB
  • positive regulation of transcription by RNA polymerase II Source: UniProtKB
  • regulation of nodal signaling pathway Source: MGI
  • Sertoli cell development Source: MGI
  • Sertoli cell differentiation Source: UniProtKB
  • spermatogenesis Source: MGI

Keywordsi

Molecular functionActivator, Developmental protein, DNA-binding, Repressor
Biological processDifferentiation, Sexual differentiation, Transcription, Transcription regulation
LigandMetal-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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaMyomorphaMuroideaMuridaeMurinaeMusMus
Proteomesi
  • UP000000589 Componenti: Chromosome 19

Organism-specific databases

MGIiMGI:1354733 Dmrt1

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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. Depending on the strain background mice 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)DescriptionActionsGraphical viewLength
ChainiPRO_00002070431 – 374Doublesex- and mab-3-related transcription factor 1Add BLAST374

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei337PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

PaxDbiQ9QZ59
PRIDEiQ9QZ59

PTM databases

iPTMnetiQ9QZ59
PhosphoSitePlusiQ9QZ59

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

BgeeiENSMUSG00000024837
GenevisibleiQ9QZ59 MM

Interactioni

GO - Molecular functioni

  • identical protein binding Source: MGI
  • protein heterodimerization activity Source: MGI
  • protein homodimerization activity Source: MGI

Protein-protein interaction databases

IntActiQ9QZ59, 1 interactor
STRINGi10090.ENSMUSP00000025755

Structurei

3D structure databases

ProteinModelPortaliQ9QZ59
SMRiQ9QZ59
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi323 – 346Pro/Ser-richAdd BLAST24

Sequence similaritiesi

Belongs to the DMRT family.Curated

Phylogenomic databases

eggNOGiKOG3815 Eukaryota
ENOG410XSK9 LUCA
GeneTreeiENSGT00550000074486
HOGENOMiHOG000203592
HOVERGENiHBG055845
InParanoidiQ9QZ59
KOiK19488
OMAiNMENRHA
OrthoDBiEOG091G0PWB
TreeFamiTF317837

Family and domain databases

Gene3Di4.10.1040.10, 1 hit
InterProiView protein in InterPro
IPR001275 DM_DNA-bd
IPR036407 DM_DNA-bd_sf
IPR026607 DMRT/dsx/mab-3
IPR022114 DMRT1-like
PANTHERiPTHR12322 PTHR12322, 2 hits
PfamiView protein in Pfam
PF00751 DM, 1 hit
PF12374 Dmrt1, 1 hit
SMARTiView protein in SMART
SM00301 DM, 1 hit
SUPFAMiSSF82927 SSF82927, 1 hit
PROSITEiView protein in PROSITE
PS40000 DM_1, 1 hit
PS50809 DM_2, 1 hit

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

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)DescriptionActionsGraphical viewLength
Sequence conflicti25Q → K in AAF12826 (PubMed:10545231).Curated1
Sequence conflicti306F → L in CAB62040 (PubMed:10640721).Curated1
Sequence conflicti365N → S in CAB62040 (PubMed:10640721).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0429631 – 180Missing in isoform 3. 1 PublicationAdd BLAST180
Alternative sequenceiVSP_042964178 – 374EGRMV…EDEDE → DEDLREPPPSELPVPDALIL RASLLPGPEHVPDLYLRGRP LLLRSQSQCVLAPQQSRFWL GLPLQQLSDEQRELEGSSGM in isoform 4. 1 PublicationAdd BLAST197
Alternative sequenceiVSP_042965213 – 374Missing in isoform 2. 1 PublicationAdd BLAST162

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 [Q9QZ59-1]
uc012bjv.1 mouse [Q9QZ59-4]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiDMRT1_MOUSE
AccessioniPrimary (citable) accession number: Q9QZ59
Secondary accession number(s): Q19AV2
, Q2TDQ9, Q6Y951, Q6Y953, Q9QZ37, Q9QZA4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: April 18, 2012
Last modified: March 28, 2018
This is version 136 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health