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Protein

Doublesex- and mab-3-related transcription factor 1

Gene

DMRT1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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 (By similarity).By similarity

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
DNA bindingi72 – 118DMPROSITE-ProRule annotationAdd BLAST47

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

Differentiation, Sexual differentiation, Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding, Metal-binding, Zinc

Enzyme and pathway databases

BioCyciZFISH:ENSG00000137090-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
Doublesex- and mab-3-related transcription factor 1
Alternative name(s):
DM domain expressed in testis protein 1
Gene namesi
Name:DMRT1
Synonyms:DMT1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 9

Organism-specific databases

HGNCiHGNC:2934. DMRT1.

Subcellular locationi

  • Nucleus PROSITE-ProRule annotation

GO - Cellular componenti

  • cytoplasm Source: Ensembl
  • nucleus Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Testicular germ cell tumor (TGCT)1 Publication
The disease may be caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:273300
46,XY sex reversal 4 (SRXY4)3 Publications
The disease may be caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:154230

Organism-specific databases

DisGeNETi1761.
MalaCardsiDMRT1.
MIMi154230. phenotype.
273300. phenotype.
OpenTargetsiENSG00000137090.
Orphaneti242. 46,XY complete gonadal dysgenesis.
PharmGKBiPA27381.

Polymorphism and mutation databases

BioMutaiDMRT1.
DMDMi83305820.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002070421 – 373Doublesex- and mab-3-related transcription factor 1Add BLAST373

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei339PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

PaxDbiQ9Y5R6.
PeptideAtlasiQ9Y5R6.
PRIDEiQ9Y5R6.

PTM databases

iPTMnetiQ9Y5R6.
PhosphoSitePlusiQ9Y5R6.

Expressioni

Tissue specificityi

Testis-specific. Expressed in prostate cancer (at protein level).2 Publications

Developmental stagei

Expressed in the genital ridges of six-week-old male embryos. Becomes confined to the forming seminiferous tubules (probably Sertoli cells) at seven weeks. Not detected in female embryos.

Gene expression databases

BgeeiENSG00000137090.
CleanExiHS_DMRT1.
ExpressionAtlasiQ9Y5R6. baseline and differential.
GenevisibleiQ9Y5R6. HS.

Organism-specific databases

HPAiHPA027850.

Interactioni

GO - Molecular functioni

Protein-protein interaction databases

BioGridi108101. 3 interactors.
DIPiDIP-58084N.
IntActiQ9Y5R6. 1 interactor.
MINTiMINT-7969865.
STRINGi9606.ENSP00000371711.

Structurei

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4YJ0X-ray3.81A/B/C70-131[»]
ProteinModelPortaliQ9Y5R6.
SMRiQ9Y5R6.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi322 – 347Pro/Ser-richAdd BLAST26

Sequence similaritiesi

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

Phylogenomic databases

eggNOGiKOG3815. Eukaryota.
ENOG410XSK9. LUCA.
GeneTreeiENSGT00550000074486.
HOGENOMiHOG000059585.
HOVERGENiHBG055845.
InParanoidiQ9Y5R6.
KOiK19488.
OMAiNMENRHA.
OrthoDBiEOG091G0PWB.
PhylomeDBiQ9Y5R6.
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 (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9Y5R6-1) [UniParc]FASTAAdd to basket
Also known as: DMRT1a

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
MPNDEAFSKP STPSEAPHAP GVPPQGRAGG FGKASGALVG AASGSSAGGS
60 70 80 90 100
SRGGGSGSGA SDLGAGSKKS PRLPKCARCR NHGYASPLKG HKRFCMWRDC
110 120 130 140 150
QCKKCNLIAE RQRVMAAQVA LRRQQAQEEE LGISHPIPLP SAAELLVKRE
160 170 180 190 200
NNGSNPCLMT ECSGTSQPPP ASVPTTAASE GRMVIQDIPA VTSRGHVENT
210 220 230 240 250
PDLVSDSTYY SSFYQPSLFP YYNNLYNCPQ YSMALAADSA SGEVGNPLGG
260 270 280 290 300
SPVKNSLRGL PGPYVPGQTG NQWQMKNMEN RHAMSSQYRM HSYYPPPSYL
310 320 330 340 350
GQSVPQFFTF EDAPSYPEAR ASVFSPPSSQ DSGLVSLSSS SPISNKSTKA
360 370
VLECEPASEP SSFTVTPVIE EDE
Length:373
Mass (Da):39,473
Last modified:May 10, 2005 - v2
Checksum:i23348B2C4A4733A1
GO
Isoform 2 (identifier: Q9Y5R6-2) [UniParc]FASTAAdd to basket
Also known as: DMRT1b

The sequence of this isoform differs from the canonical sequence as follows:
     275-275: M → V
     276-373: Missing.

Show »
Length:275
Mass (Da):28,690
Checksum:iE5ED8B07861609D9
GO
Isoform 3 (identifier: Q9Y5R6-3) [UniParc]FASTAAdd to basket
Also known as: DMRT1c

The sequence of this isoform differs from the canonical sequence as follows:
     120-175: ALRRQQAQEE...SQPPPASVPT → GAGVREPGFS...QAILLPQPPK
     176-373: Missing.

Show »
Length:175
Mass (Da):18,325
Checksum:i9CFD6F98F5F9B54C
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00995445S → T.3 PublicationsCorresponds to variant rs3739583dbSNPEnsembl.1
Natural variantiVAR_009955221Y → S.1 Publication1
Natural variantiVAR_009956281R → S.1 Publication1
Natural variantiVAR_009957295P → L.1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_042959120 – 175ALRRQ…ASVPT → GAGVREPGFSLSFFFFFFFF RWSLARLPRLQCSGAILAHC NSASRVQAILLPQPPK in isoform 3. 1 PublicationAdd BLAST56
Alternative sequenceiVSP_042960176 – 373Missing in isoform 3. 1 PublicationAdd BLAST198
Alternative sequenceiVSP_042961275M → V in isoform 2. 1 Publication1
Alternative sequenceiVSP_042962276 – 373Missing in isoform 2. 1 PublicationAdd BLAST98

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF130728 mRNA. Translation: AAD40474.1.
AL162131 mRNA. Translation: CAB82427.1.
AY442914 mRNA. Translation: AAR89619.1.
AY442915 mRNA. Translation: AAR89620.1.
AK313594 mRNA. Translation: BAG36360.1.
AJ276801 mRNA. Translation: CAB82851.1.
AL136365 Genomic DNA. Translation: CAB99335.1.
CH471071 Genomic DNA. Translation: EAW58820.1.
BC040847 mRNA. Translation: AAH40847.1.
CCDSiCCDS6442.1. [Q9Y5R6-1]
RefSeqiNP_068770.2. NM_021951.2. [Q9Y5R6-1]
UniGeneiHs.98586.

Genome annotation databases

EnsembliENST00000382276; ENSP00000371711; ENSG00000137090. [Q9Y5R6-1]
GeneIDi1761.
KEGGihsa:1761.
UCSCiuc003zgv.5. human. [Q9Y5R6-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF130728 mRNA. Translation: AAD40474.1.
AL162131 mRNA. Translation: CAB82427.1.
AY442914 mRNA. Translation: AAR89619.1.
AY442915 mRNA. Translation: AAR89620.1.
AK313594 mRNA. Translation: BAG36360.1.
AJ276801 mRNA. Translation: CAB82851.1.
AL136365 Genomic DNA. Translation: CAB99335.1.
CH471071 Genomic DNA. Translation: EAW58820.1.
BC040847 mRNA. Translation: AAH40847.1.
CCDSiCCDS6442.1. [Q9Y5R6-1]
RefSeqiNP_068770.2. NM_021951.2. [Q9Y5R6-1]
UniGeneiHs.98586.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4YJ0X-ray3.81A/B/C70-131[»]
ProteinModelPortaliQ9Y5R6.
SMRiQ9Y5R6.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108101. 3 interactors.
DIPiDIP-58084N.
IntActiQ9Y5R6. 1 interactor.
MINTiMINT-7969865.
STRINGi9606.ENSP00000371711.

PTM databases

iPTMnetiQ9Y5R6.
PhosphoSitePlusiQ9Y5R6.

Polymorphism and mutation databases

BioMutaiDMRT1.
DMDMi83305820.

Proteomic databases

PaxDbiQ9Y5R6.
PeptideAtlasiQ9Y5R6.
PRIDEiQ9Y5R6.

Protocols and materials databases

DNASUi1761.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000382276; ENSP00000371711; ENSG00000137090. [Q9Y5R6-1]
GeneIDi1761.
KEGGihsa:1761.
UCSCiuc003zgv.5. human. [Q9Y5R6-1]

Organism-specific databases

CTDi1761.
DisGeNETi1761.
GeneCardsiDMRT1.
HGNCiHGNC:2934. DMRT1.
HPAiHPA027850.
MalaCardsiDMRT1.
MIMi154230. phenotype.
273300. phenotype.
602424. gene.
neXtProtiNX_Q9Y5R6.
OpenTargetsiENSG00000137090.
Orphaneti242. 46,XY complete gonadal dysgenesis.
PharmGKBiPA27381.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3815. Eukaryota.
ENOG410XSK9. LUCA.
GeneTreeiENSGT00550000074486.
HOGENOMiHOG000059585.
HOVERGENiHBG055845.
InParanoidiQ9Y5R6.
KOiK19488.
OMAiNMENRHA.
OrthoDBiEOG091G0PWB.
PhylomeDBiQ9Y5R6.
TreeFamiTF317837.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000137090-MONOMER.

Miscellaneous databases

GeneWikiiDMRT1.
GenomeRNAii1761.
PROiQ9Y5R6.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000137090.
CleanExiHS_DMRT1.
ExpressionAtlasiQ9Y5R6. baseline and differential.
GenevisibleiQ9Y5R6. HS.

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]
ProtoNetiSearch...

Entry informationi

Entry nameiDMRT1_HUMAN
AccessioniPrimary (citable) accession number: Q9Y5R6
Secondary accession number(s): B2R913
, Q6T1H8, Q6T1H9, Q8IW77
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: May 10, 2005
Last modified: November 2, 2016
This is version 136 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.