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Protein

Doublesex- and mab-3-related transcription factor 1

Gene

DMRT1

Organism
Homo sapiens (Human)
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 (By similarity).By similarity

Regions

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

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionDevelopmental protein, DNA-binding
Biological processDifferentiation, Sexual differentiation, Transcription, Transcription regulation
LigandMetal-binding, Zinc

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

EuPathDBiHostDB:ENSG00000137090.11
HGNCiHGNC:2934 DMRT1
MIMi602424 gene
neXtProtiNX_Q9Y5R6

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

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
ProteomicsDBi86485
86486 [Q9Y5R6-2]
86487 [Q9Y5R6-3]

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 Expressed in 19 organ(s), highest expression level in female gonad
CleanExiHS_DMRT1
ExpressionAtlasiQ9Y5R6 baseline and differential
GenevisibleiQ9Y5R6 HS

Organism-specific databases

HPAiHPA027850

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
itself4EBI-7963304,EBI-7963304

GO - Molecular functioni

Protein-protein interaction databases

BioGridi108101, 2 interactors
DIPiDIP-58084N
IntActiQ9Y5R6, 1 interactor
MINTiQ9Y5R6
STRINGi9606.ENSP00000371711

Structurei

3D structure databases

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

Phylogenomic databases

eggNOGiKOG3815 Eukaryota
ENOG410XSK9 LUCA
GeneTreeiENSGT00550000074486
HOGENOMiHOG000059585
HOVERGENiHBG055845
InParanoidiQ9Y5R6
KOiK19488
OMAiNRHAMSS
OrthoDBiEOG091G0PWB
PhylomeDBiQ9Y5R6
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, 1 hit
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 (3+)i

Sequence statusi: Complete.

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

This entry has 3 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H3BN61H3BN61_HUMAN
Doublesex- and mab-3-related transc...
DMRT1
215Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00995445S → T3 PublicationsCorresponds to variant dbSNP:rs3739583Ensembl.1
Natural variantiVAR_009955221Y → S1 Publication1
Natural variantiVAR_009956281R → S1 Publication1
Natural variantiVAR_009957295P → L1 PublicationCorresponds to variant dbSNP:rs902482318Ensembl.1

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 No translation available.
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

Similar proteinsi

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 No translation available.
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, 2 interactors
DIPiDIP-58084N
IntActiQ9Y5R6, 1 interactor
MINTiQ9Y5R6
STRINGi9606.ENSP00000371711

PTM databases

iPTMnetiQ9Y5R6
PhosphoSitePlusiQ9Y5R6

Polymorphism and mutation databases

BioMutaiDMRT1
DMDMi83305820

Proteomic databases

PaxDbiQ9Y5R6
PeptideAtlasiQ9Y5R6
PRIDEiQ9Y5R6
ProteomicsDBi86485
86486 [Q9Y5R6-2]
86487 [Q9Y5R6-3]

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
EuPathDBiHostDB:ENSG00000137090.11
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
OMAiNRHAMSS
OrthoDBiEOG091G0PWB
PhylomeDBiQ9Y5R6
TreeFamiTF317837

Miscellaneous databases

ChiTaRSiDMRT1 human
GeneWikiiDMRT1
GenomeRNAii1761
PROiPR:Q9Y5R6
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000137090 Expressed in 19 organ(s), highest expression level in female gonad
CleanExiHS_DMRT1
ExpressionAtlasiQ9Y5R6 baseline and differential
GenevisibleiQ9Y5R6 HS

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, 1 hit
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
ProtoNetiSearch...

Entry informationi

Entry nameiDMRT1_HUMAN
AccessioniPrimary (citable) accession number: Q9Y5R6
Secondary accession number(s): B2R913
, Q6T1H8, Q6T1H9, Q8IW77
Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: May 10, 2005
Last modified: November 7, 2018
This is version 150 of the entry and version 2 of the sequence. See 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. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
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