Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Entrez ID	1761
Gene name	Doublesex and mab-3 related transcription factor 1
Gene symbol	DMRT1
Synonyms (NCBI Gene)	CT154DMT1
Chromosome	9
Chromosome location	9p24.3
Summary	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

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SNP ID	Visualize variation	Clinical significance	Consequence
rs140506267	A>G	Likely-pathogenic, likely-benign	Coding sequence variant, missense variant, intron variant
rs1057519638	G>T	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant, upstream transcript variant

Show/Hide all (21)

miRTarBase ID	miRNA	Experiments
MIRT939196	hsa-miR-4735-5p	CLIP-seq
MIRT939197	hsa-miR-548a-5p	CLIP-seq
MIRT939198	hsa-miR-548ab	CLIP-seq
MIRT939199	hsa-miR-548ak	CLIP-seq
MIRT939200	hsa-miR-548b-5p	CLIP-seq
MIRT939201	hsa-miR-548c-5p	CLIP-seq
MIRT939202	hsa-miR-548d-5p	CLIP-seq
MIRT939203	hsa-miR-548h	CLIP-seq
MIRT939204	hsa-miR-548i	CLIP-seq
MIRT939205	hsa-miR-548j	CLIP-seq
MIRT939206	hsa-miR-548n	CLIP-seq
MIRT939207	hsa-miR-548t	CLIP-seq
MIRT939208	hsa-miR-548w	CLIP-seq
MIRT939209	hsa-miR-548y	CLIP-seq
MIRT939210	hsa-miR-559	CLIP-seq
MIRT939211	hsa-miR-802	CLIP-seq
MIRT1977845	hsa-miR-4452	CLIP-seq
MIRT1977846	hsa-miR-526b	CLIP-seq
MIRT1977847	hsa-miR-578	CLIP-seq
MIRT2516966	hsa-miR-520d-5p	CLIP-seq
MIRT2516967	hsa-miR-524-5p	CLIP-seq

Show/Hide all (3)

Transcription factor	Regulation	Reference
EGR1	Unknown	11870074
SP1	Unknown	11870074
SP3	Unknown	11870074

Show/Hide all (54)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	ISS
GO:0000785	Component	Chromatin	ISA
GO:0000902	Process	Cell morphogenesis	IEA
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IEA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0000987	Function	Cis-regulatory region sequence-specific DNA binding	IEA
GO:0000987	Function	Cis-regulatory region sequence-specific DNA binding	ISS
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA
GO:0001674	Component	Female germ cell nucleus	IEA
GO:0002176	Process	Male germ cell proliferation	IEA
GO:0002176	Process	Male germ cell proliferation	ISS
GO:0003006	Process	Developmental process involved in reproduction	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003682	Function	Chromatin binding	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	22899867
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0005737	Component	Cytoplasm	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0007127	Process	Meiosis I	IEA
GO:0007283	Process	Spermatogenesis	IEA
GO:0007548	Process	Sex differentiation	IBA
GO:0007548	Process	Sex differentiation	IEA
GO:0008354	Process	Germ cell migration	IEA
GO:0008584	Process	Male gonad development	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0030238	Process	Male sex determination	IEA
GO:0030238	Process	Male sex determination	ISS
GO:0035556	Process	Intracellular signal transduction	IEA
GO:0042802	Function	Identical protein binding	IEA
GO:0042802	Function	Identical protein binding	IPI	26005864
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0045835	Process	Negative regulation of meiotic nuclear division	IEA
GO:0045835	Process	Negative regulation of meiotic nuclear division	ISS
GO:0045840	Process	Positive regulation of mitotic nuclear division	IEA
GO:0045840	Process	Positive regulation of mitotic nuclear division	ISS
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS
GO:0046661	Process	Male sex differentiation	IEA
GO:0046661	Process	Male sex differentiation	ISS
GO:0046872	Function	Metal ion binding	IEA
GO:0048599	Process	Oocyte development	IEA
GO:0060008	Process	Sertoli cell differentiation	IEA
GO:0060008	Process	Sertoli cell differentiation	ISS
GO:0060009	Process	Sertoli cell development	IEA
GO:0060903	Process	Positive regulation of meiosis I	IEA
GO:1900107	Process	Regulation of nodal signaling pathway	IEA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536
GO:2000020	Process	Positive regulation of male gonad development	IEA

MIM	HGNC	e!Ensembl
602424	2934	ENSG00000137090

Q9Y5R6

Protein name

Doublesex- and mab-3-related transcription factor 1 (DM domain expressed in testis protein 1)

Protein function

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 spermato

PDB

4YJ0

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00751	DM	72 → 118	DM DNA binding domain	Family
PF12374	Dmrt1	130 → 202	Double-sex mab3 related transcription factor 1	Family

Tissue specificity

TISSUE SPECIFICITY: Testis-specific. Expressed in prostate cancer (at protein level). {ECO:0000269|PubMed:10857744, ECO:0000269|PubMed:23436708}.

Sequence

MPNDEAFSKPSTPSEAPHAPGVPPQGRAGGFGKASGALVGAASGSSAGGSSRGGGSGSGA
SDLGAGSKKSPRLPKCARCRNHGYASPLKGHKRFCMWRDCQCKKCNLIAERQRVMAAQVA
LRRQQAQEEELGISHPIPLPSAAELLVKRENNGSNPCLMTECSGTSQPPPASVPTTAASE
GRMVIQDIPAVTSRGHVENTPDLVSDSTYYSSFYQPSLFPYYNNLYNCPQYSMALAADSA
SGEVGNPLGGSPVKNSLRGLPGPYVPGQTGNQWQMKNMENRHAMSSQYRMHSYYPPPSYL
GQSVPQFFTFEDAPSYPEARASVFSPPSSQDSGLVSLSSSSPISNKSTKAVLECEPASEP
SSFTVTPVIEEDE

Sequence length

373

Interactions

View interactions

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
46,XY sex reversal 4	Likely pathogenic	rs1057519638	RCV000445388
Male infertility with azoospermia or oligozoospermia due to single gene mutation	Likely pathogenic	rs2541006365, rs767829750, rs1410631980	RCV003991604 RCV003991605 RCV003991606
Non-obstructive azoospermia	Likely pathogenic	rs2132532372	RCV001648516

Show/Hide Unknown Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cervical cancer	Benign	rs35846503	RCV005903368
Pure gonadal dysgenesis 46,XY	Uncertain significance	rs746758951	RCV001270342
See cases	Uncertain significance	rs2132652504	RCV002221967
Uterine corpus endometrial carcinoma	Benign	rs35846503	RCV005903369

Show/Hide Text Mining Associations (33)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
46 XX Disorders of Sex Development	Associate	38003010
Anemia	Associate	29023457
Anemia Iron Deficiency	Associate	29023457
Anxiety	Associate	36764568
Atrophy	Associate	29023457
Azoospermia	Associate	23555275, 26139570, 31479588, 35366911, 36572623
Azoospermia Nonobstructive	Associate	27496608
Celiac Disease	Associate	29023457
Colorectal Neoplasms	Associate	34108518
Cystic Fibrosis	Associate	23176785
Diabetes Mellitus	Associate	17047287
Disorders of Sex Development	Associate	29219112
Fetal Growth Retardation	Associate	23981964
Gonadal Dysgenesis	Associate	23861871
Heavy Metal Poisoning	Associate	29023457
Hemochromatosis	Associate	19892936, 21973163
Hypoxia	Stimulate	32682355
Infertility Male	Associate	24934491, 31479588, 36572623
Iron Deficiencies	Associate	29023457
Leukemia Myeloid Acute	Associate	30289875
Liver Diseases Alcoholic	Stimulate	24894955
Male Infertility with Large Headed Multiflagellar Polyploid Spermatozoa	Associate	23555275, 26139570
Mood Disorders	Associate	36764568
Neoplasms Germ Cell and Embryonal	Associate	20543847, 21617256, 30067948
Oligospermia	Associate	27496608
Ovotesticular Disorders of Sex Development	Associate	29219112
Sexual Dysfunction Physiological	Associate	26139570
Spermatogenic Failure Nonobstructive Y Linked	Associate	23555275
Teratoma	Associate	20543847
Testicular Germ Cell Tumor	Associate	21551455, 21617256, 30067948
Testicular Neoplasms	Associate	21564132
Urogenital Abnormalities	Associate	23861871
Virilism	Associate	31264792

DMRT1 (doublesex and mab-3 related transcription factor 1)