UniProtKB - Q9QZ59 (DMRT1_MOUSE)
Protein
Doublesex- and mab-3-related transcription factor 1
Gene
Dmrt1
Organism
Mus musculus (Mouse)
Status
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 key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
DNA bindingi | 70 – 116 | DMPROSITE-ProRule annotationAdd BLAST | 47 |
GO - Molecular functioni
- chromatin binding Source: MGI
- cis-regulatory region sequence-specific DNA binding Source: UniProtKB
- DNA-binding transcription activator activity, RNA polymerase II-specific Source: NTNU_SB
- DNA-binding transcription factor activity Source: GO_Central
- identical protein binding Source: MGI
- metal ion binding Source: UniProtKB-KW
- RNA polymerase II transcription regulatory region sequence-specific DNA binding Source: NTNU_SB
- sequence-specific DNA binding Source: MGI
- sequence-specific double-stranded DNA binding Source: MGI
GO - Biological processi
- cell morphogenesis Source: MGI
- developmental process involved in reproduction Source: MGI
- germ cell development Source: GO_Central
- germ cell migration Source: MGI
- intracellular signal transduction Source: MGI
- 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
- regulation of transcription by RNA polymerase II Source: GO_Central
- Sertoli cell development Source: MGI
- Sertoli cell differentiation Source: UniProtKB
- sex differentiation Source: GO_Central
- spermatogenesis Source: MGI
Keywordsi
Molecular function | Activator, Developmental protein, DNA-binding, Repressor |
Biological process | Differentiation, Sexual differentiation, Transcription, Transcription regulation |
Ligand | Metal-binding, Zinc |
Names & Taxonomyi
Protein namesi | Recommended name: Doublesex- and mab-3-related transcription factor 1 |
Gene namesi | Name:Dmrt1 |
Organismi | Mus musculus (Mouse) |
Taxonomic identifieri | 10090 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Glires › Rodentia › Myomorpha › Muroidea › Muridae › Murinae › Mus › Mus |
Proteomesi |
|
Organism-specific databases
MGIi | MGI:1354733, Dmrt1 |
Subcellular locationi
Nucleus
- Nucleus PROSITE-ProRule annotation1 Publication
Keywords - Cellular componenti
NucleusPathology & 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 suppressorPTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000207043 | 1 – 374 | Doublesex- and mab-3-related transcription factor 1Add BLAST | 374 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 337 | PhosphoserineCombined sources | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
PaxDbi | Q9QZ59 |
PRIDEi | Q9QZ59 |
PTM databases
iPTMneti | Q9QZ59 |
PhosphoSitePlusi | Q9QZ59 |
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
Bgeei | ENSMUSG00000024837, Expressed in testis and 69 other tissues |
Genevisiblei | Q9QZ59, MM |
Interactioni
GO - Molecular functioni
- identical protein binding Source: MGI
Protein-protein interaction databases
IntActi | Q9QZ59, 1 interactor |
STRINGi | 10090.ENSMUSP00000025755 |
Miscellaneous databases
RNActi | Q9QZ59, protein |
Family & Domainsi
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 323 – 346 | Pro/Ser-richAdd BLAST | 24 |
Sequence similaritiesi
Belongs to the DMRT family.Curated
Phylogenomic databases
eggNOGi | KOG3815, Eukaryota |
GeneTreei | ENSGT00940000156489 |
HOGENOMi | CLU_069148_0_0_1 |
InParanoidi | Q9QZ59 |
OMAi | AGNQWQM |
OrthoDBi | 1209937at2759 |
TreeFami | TF317837 |
Family and domain databases
Gene3Di | 4.10.1040.10, 1 hit |
InterProi | View protein in InterPro IPR001275, DM_DNA-bd IPR036407, DM_DNA-bd_sf IPR026607, DMRT/dsx/mab-3 IPR022114, DMRT1-like |
PANTHERi | PTHR12322, PTHR12322, 3 hits |
Pfami | View protein in Pfam PF00751, DM, 1 hit PF12374, Dmrt1, 1 hit |
SMARTi | View protein in SMART SM00301, DM, 1 hit |
SUPFAMi | SSF82927, SSF82927, 1 hit |
PROSITEi | View protein in PROSITE PS40000, DM_1, 1 hit PS50809, DM_2, 1 hit |
s (4)i Sequence
Sequence statusi: Complete.
This entry describes 4 produced by isoformsialternative splicing. AlignAdd to basketIsoform 1 (identifier: Q9QZ59-1) [UniParc]FASTAAdd to basket
Also known as: Dmrt1a, Dmrt1a1, Dmrt1a2, Dmrt1a3
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 25 | Q → K in AAF12826 (PubMed:10545231).Curated | 1 | |
Sequence conflicti | 306 | F → L in CAB62040 (PubMed:10640721).Curated | 1 | |
Sequence conflicti | 365 | N → S in CAB62040 (PubMed:10640721).Curated | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_042963 | 1 – 180 | Missing in isoform 3. 1 PublicationAdd BLAST | 180 | |
Alternative sequenceiVSP_042964 | 178 – 374 | EGRMV…EDEDE → DEDLREPPPSELPVPDALIL RASLLPGPEHVPDLYLRGRP LLLRSQSQCVLAPQQSRFWL GLPLQQLSDEQRELEGSSGM in isoform 4. 1 PublicationAdd BLAST | 197 | |
Alternative sequenceiVSP_042965 | 213 – 374 | Missing in isoform 2. 1 PublicationAdd BLAST | 162 |
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] |
Genome annotation databases
Ensembli | ENSMUST00000025755; ENSMUSP00000025755; ENSMUSG00000024837 [Q9QZ59-1] ENSMUST00000087525; ENSMUSP00000084803; ENSMUSG00000024837 [Q9QZ59-4] |
GeneIDi | 50796 |
KEGGi | mmu:50796 |
UCSCi | uc008hbi.1, mouse [Q9QZ59-1] uc012bjv.1, mouse [Q9QZ59-4] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
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] |
3D structure databases
SMRi | Q9QZ59 |
ModBasei | Search... |
Protein-protein interaction databases
IntActi | Q9QZ59, 1 interactor |
STRINGi | 10090.ENSMUSP00000025755 |
PTM databases
iPTMneti | Q9QZ59 |
PhosphoSitePlusi | Q9QZ59 |
Proteomic databases
PaxDbi | Q9QZ59 |
PRIDEi | Q9QZ59 |
Protocols and materials databases
Antibodypediai | 23777, 304 antibodies |
Genome annotation databases
Ensembli | ENSMUST00000025755; ENSMUSP00000025755; ENSMUSG00000024837 [Q9QZ59-1] ENSMUST00000087525; ENSMUSP00000084803; ENSMUSG00000024837 [Q9QZ59-4] |
GeneIDi | 50796 |
KEGGi | mmu:50796 |
UCSCi | uc008hbi.1, mouse [Q9QZ59-1] uc012bjv.1, mouse [Q9QZ59-4] |
Organism-specific databases
CTDi | 1761 |
MGIi | MGI:1354733, Dmrt1 |
Phylogenomic databases
eggNOGi | KOG3815, Eukaryota |
GeneTreei | ENSGT00940000156489 |
HOGENOMi | CLU_069148_0_0_1 |
InParanoidi | Q9QZ59 |
OMAi | AGNQWQM |
OrthoDBi | 1209937at2759 |
TreeFami | TF317837 |
Miscellaneous databases
BioGRID-ORCSi | 50796, 0 hits in 17 CRISPR screens |
ChiTaRSi | Dmrt1, mouse |
PROi | PR:Q9QZ59 |
RNActi | Q9QZ59, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSMUSG00000024837, Expressed in testis and 69 other tissues |
Genevisiblei | Q9QZ59, MM |
Family and domain databases
Gene3Di | 4.10.1040.10, 1 hit |
InterProi | View protein in InterPro IPR001275, DM_DNA-bd IPR036407, DM_DNA-bd_sf IPR026607, DMRT/dsx/mab-3 IPR022114, DMRT1-like |
PANTHERi | PTHR12322, PTHR12322, 3 hits |
Pfami | View protein in Pfam PF00751, DM, 1 hit PF12374, Dmrt1, 1 hit |
SMARTi | View protein in SMART SM00301, DM, 1 hit |
SUPFAMi | SSF82927, SSF82927, 1 hit |
PROSITEi | View protein in PROSITE PS40000, DM_1, 1 hit PS50809, DM_2, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | DMRT1_MOUSE | |
Accessioni | Q9QZ59Primary (citable) accession number: Q9QZ59 Secondary accession number(s): Q19AV2 Q9QZA4 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | December 1, 2000 |
Last sequence update: | April 18, 2012 | |
Last modified: | February 10, 2021 | |
This is version 153 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- MGD cross-references
Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families