• Gene id: 1761

Gene Summary

• Gene Symbol: DMRT1   Gene   UCSC   Ensembl
• Aliases: CT154, DMT1
• Gene name: doublesex and mab-3 related transcription factor 1
• Alternate names: doublesex- and mab-3-related transcription factor 1, DM domain expressed in testis 1, DM domain expressed in testis protein 1,
• Gene location: 9p24.3 (841646: 969089)     Exons: 8     NC_000009.12
• Gene summary(Entrez): This gene is found in a cluster with two other members of the gene family, having in common a zinc finger-like DNA-binding motif (DM domain). The DM domain is an ancient, conserved component of the vertebrate sex-determining pathway that is also a key reg
• OMIM: 602424

SNPs

rs140506267

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000009.12   g.894044A>G
NC_000009.11   g.894044A>G
NG_009221.1   g.57355A>G
NM_021951.3   c.671A>G
NM_021951.2   c.671A>G
NM_001363767.1   c.197A>G
XM_011517773.3   c.197A>G
XM_006716732.1   c.671A>G
XM_011517770.1   c.719A>G
XM_011517771.1   c.719A>G
XM_011517772.1  

rs34946058

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000009.12   g.894156C>G
NC_000009.12   g.894156C>T
NC_000009.11   g.894156C>G
NC_000009.11   g.894156C>T
NG_009221.1   g.57467C>G
NG_009221.1   g.57467C>T
NM_021951.3   c.783C>G
NM_021951.3   c.783C>T
NM_021951.2   c.783C>G
NM_021951.2   c.783C>T
NM_001363767.1   c.309

rs144122237

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000009.12   g.841785C>T
NC_000009.11   g.841785C>T
NG_009221.1   g.5096C>T
NM_021951.3   c.-54C>T
NM_021951.2   c.-54C>T
XM_006716732.1   c.-54C>T
XM_017014375.1   c.-54C>T|SEQ=[C/T]|GENE=DMRT1

rs376518776

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000009.12   g.842051G>A
NC_000009.11   g.842051G>A
NG_009221.1   g.5362G>A
NM_021951.3   c.213G>A
NM_021951.2   c.213G>A
XM_006716732.1   c.213G>A
XM_017014375.1   c.213G>A|SEQ=[G/A]|GENE=DMRT1

rs200423545

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000009.12   g.967959T>A
NC_000009.12   g.967959T>C
NC_000009.11   g.967959T>A
NC_000009.11   g.967959T>C
NG_009221.1   g.131270T>A
NG_009221.1   g.131270T>C|SEQ=[T/A/C]|GENE=DMRT1

Protein Summary

• Protein general information: Q9Y5R6  
  • Name: Doublesex and mab 3 related transcription factor 1 (DM domain expressed in testis protein 1)
  • Length: 373  
  • Mass: 39,473
• Sequence:

  MPNDEAFSKPSTPSEAPHAPGVPPQGRAGGFGKASGALVGAASGSSAGGSSRGGGSGSGASDLGAGSKKSPRLPK
  CARCRNHGYASPLKGHKRFCMWRDCQCKKCNLIAERQRVMAAQVALRRQQAQEEELGISHPIPLPSAAELLVKRE
  NNGSNPCLMTECSGTSQPPPASVPTTAASEGRMVIQDIPAVTSRGHVENTPDLVSDSTYYSSFYQPSLFPYYNNL
  YNCPQYSMALAADSASGEVGNPLGGSPVKNSLRGLPGPYVPGQTGNQWQMKNMENRHAMSSQYRMHSYYPPPSYL
  GQSVPQFFTFEDAPSYPEARASVFSPPSSQDSGLVSLSSSSPISNKSTKAVLECEPASEPSSFTVTPVIEEDE

• Structural information:
  • Interpro: IPR001275  IPR036407  IPR026607  IPR022114  
  • Prosite: PS40000 PS50809
  • PDB: 4YJ0
  • PDBsum: 4YJ0
  • DIP: 58084
  • STRING: ENSP00000371711
• Other Databases: GeneCards:  DMRT1  Malacards:  DMRT1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	ISS	biological process
GO:0000902	cell morphogenesis	IEA	biological process
GO:0000977	RNA polymerase II regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0000987	core promoter proximal region sequence-specific DNA binding	ISS	molecular function
GO:0000987	core promoter proximal region sequence-specific DNA binding	IBA	molecular function
GO:0001228	transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding	IEA	molecular function
GO:0002176	male germ cell proliferation	ISS	biological process
GO:0003682	chromatin binding	IEA	molecular function
GO:0003700	transcription factor activity, sequence-specific DNA binding	IBA	molecular function
GO:0005634	nucleus	ISS	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0006366	transcription from RNA polymerase II promoter	IEA	biological process
GO:0007283	spermatogenesis	IEA	biological process
GO:0007548	sex differentiation	IBA	biological process
GO:0008354	germ cell migration	IEA	biological process
GO:0030238	male sex determination	ISS	biological process
GO:0035556	intracellular signal transduction	IEA	biological process
GO:0042803	protein homodimerization activity	IBA	molecular function
GO:0045835	negative regulation of meiotic nuclear division	ISS	biological process
GO:0045840	positive regulation of mitotic nuclear division	ISS	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	ISS	biological process
GO:0046661	male sex differentiation	ISS	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0046982	protein heterodimerization activity	IEA	molecular function
GO:0048599	oocyte development	IEA	biological process
GO:0060008	Sertoli cell differentiation	ISS	biological process
GO:0060009	Sertoli cell development	IEA	biological process
GO:0060903	positive regulation of meiosis I	IEA	biological process
GO:1900107	regulation of nodal signaling pathway	IEA	biological process
GO:2000020	positive regulation of male gonad development	IEA	biological process
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	IEA	biological process
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	ISS	biological process
GO:0000902	cell morphogenesis	IEA	biological process
GO:0000977	RNA polymerase II regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0000987	core promoter proximal region sequence-specific DNA binding	IEA	molecular function
GO:0000987	core promoter proximal region sequence-specific DNA binding	ISS	molecular function
GO:0000987	core promoter proximal region sequence-specific DNA binding	IBA	molecular function
GO:0001228	transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding	IEA	molecular function
GO:0002176	male germ cell proliferation	IEA	biological process
GO:0002176	male germ cell proliferation	ISS	biological process
GO:0003006	developmental process involved in reproduction	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0003682	chromatin binding	IEA	molecular function
GO:0003700	transcription factor activity, sequence-specific DNA binding	IEA	molecular function
GO:0003700	transcription factor activity, sequence-specific DNA binding	IBA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	ISS	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0006351	transcription, DNA-templated	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0006366	transcription from RNA polymerase II promoter	IEA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0007283	spermatogenesis	IEA	biological process
GO:0007548	sex differentiation	IBA	biological process
GO:0007548	sex differentiation	IEA	biological process
GO:0008354	germ cell migration	IEA	biological process
GO:0008584	male gonad development	IEA	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0030238	male sex determination	IEA	biological process
GO:0030238	male sex determination	ISS	biological process
GO:0035556	intracellular signal transduction	IEA	biological process
GO:0042803	protein homodimerization activity	IEA	molecular function
GO:0042803	protein homodimerization activity	IBA	molecular function
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0045835	negative regulation of meiotic nuclear division	IEA	biological process
GO:0045835	negative regulation of meiotic nuclear division	ISS	biological process
GO:0045840	positive regulation of mitotic nuclear division	IEA	biological process
GO:0045840	positive regulation of mitotic nuclear division	ISS	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IEA	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	ISS	biological process
GO:0046661	male sex differentiation	IEA	biological process
GO:0046661	male sex differentiation	ISS	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0046982	protein heterodimerization activity	IEA	molecular function
GO:0048599	oocyte development	IEA	biological process
GO:0060008	Sertoli cell differentiation	IEA	biological process
GO:0060008	Sertoli cell differentiation	ISS	biological process
GO:0060009	Sertoli cell development	IEA	biological process
GO:0060903	positive regulation of meiosis I	IEA	biological process
GO:1900107	regulation of nodal signaling pathway	IEA	biological process
GO:2000020	positive regulation of male gonad development	IEA	biological process
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	ISS	biological process
GO:0000987	core promoter proximal region sequence-specific DNA binding	ISS	molecular function
GO:0000987	core promoter proximal region sequence-specific DNA binding	IBA	molecular function
GO:0002176	male germ cell proliferation	ISS	biological process
GO:0003700	transcription factor activity, sequence-specific DNA binding	IBA	molecular function
GO:0005634	nucleus	ISS	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0007548	sex differentiation	IBA	biological process
GO:0030238	male sex determination	ISS	biological process
GO:0042803	protein homodimerization activity	IBA	molecular function
GO:0045835	negative regulation of meiotic nuclear division	ISS	biological process
GO:0045840	positive regulation of mitotic nuclear division	ISS	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	ISS	biological process
GO:0046661	male sex differentiation	ISS	biological process
GO:0060008	Sertoli cell differentiation	ISS	biological process

Diseases

Associated diseases	References
Cancer	GAD: 20543847
Cancer	GAD: 17903305
Cancer (testicular)	GAD: 20543847
Cancer (prostate)	GAD: 17903305
Cancer (germinoma)	GAD: 21551455
Cardiovascular disease	GAD: 17903304
Cardiovascular disease	GAD: 17903304
Male factor infertility	MIK: 23555275
Cryptozoospermia	MIK: 24934491
Non obstructive azoospermia	MIK: 24934491
Spermatogenesis defects	MIK: 23555275
Disorders of sexual development (DSD)	MIK: 21048976
Azoospermia	MIK: 23555275
Disorders of sexual development (DSD)	INFBASE: 21048976
Associated with spermatogenesis and epigenetic regulation	MIK: 21674046
Cryptorchidism	MIK: 28606200
Cryptozoospermia	MIK: 24934491
Disorders of sexual development (DSD)	MIK: 21048976
Non-obstructive azoospermia (NOA)	MIK: 26139570
Male infertility	MIK: 26139570
Sertoli cell only syndrome	MIK: 31479588
Spermatogenic defects	MIK: 23555275

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21048976	Disorders of sexual development (DSD)			9067 (116 with idiopathic DSD, 8951 controls)	Male infertility	SRY DMRT1 FGFR2 KANK1 ADCY2 and ZEB2
23555275	Spermatogenic failure, idiopathic azoospermia		Caucasi an	8655 (1302 idiopathic spermatogenic impairment or azoospermia, 7353 controls)	Male infertility
24934491	Cryptozoospermia, nonobstructive azoospermia			517 (171 patients with cryptozoospermia, 131 nonobstructive azoospermia, 215 normozoospermic controls)	Male infertility
26139570	Non-obstructive azoospermia (NOA), Male infertility	rs144122237, rs200423545, rs376518776,c.-223_-219CGAAA>T and rs34946058	Portuge se	580 (223 NOA patients, 357 controls)	Male infertility
31479588	Sertoli cell only syndrome	c.671A>G p.(Asn224Ser)	Brazil, South America n	23 non-obstructive azoospermia	Male infertility	NGS
21674046	Associated with spermatogenesis and epigenetic regulation			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq