DMRT1 - doublesex and mab-3 related transcription factor 1 Gene

Also Known as DMT1; CT154

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 1761

About DMRT1

Cytogenetic location: 9p24.3 Genomic coordinates (GRCh38): 9:841,697-969,090 (from NCBI)

This gene has 3 transcripts (splice variants), 195 orthologues, 8 paralogues and is associated with 1 phenotype. Restricted expression toward testis (RPKM 15.0).

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 regulator of male development in flies and nematodes. This gene exhibits a gonad-specific and sexually dimorphic expression pattern. Defective testicular development and XY feminization occur when this gene is hemizygous. [provided by RefSeq, Jul 2008]

DMRT1 Products (2)

mRNA	Protein	Name
NM_001363767.1	NP_001350696.1	doublesex- and mab-3-related transcription factor 1 isoform 2
NM_021951.3	NP_068770.2	doublesex- and mab-3-related transcription factor 1 isoform 1

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables identical protein binding	IPI IPI: Inferred from physical interaction	26005864	GOA
enables sequence-specific double-stranded DNA binding	IDA IDA: Inferred from direct assay	28473536	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in nucleus	IDA IDA: Inferred from direct assay	22899867	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

DMRT1 Protein Structure

Dmrt1

0
100
200
300
373 a.a.

Protein Preferred Names	Protein Names
doublesex- and mab-3-related transcription factor 1	DM domain expressed in testis 1

DMRT1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	DMRT1	Q9Y5R6	DMRT1	Homo sapiens	Q9Y5R6	EMSA	26005864
Intra	DMRT1	Q9Y5R6	ATE1	Homo sapiens	O95260	Anti Tag CoIP	33961781
Intra	DMRT1	Q9Y5R6	DMRT1	Homo sapiens	Q9Y5R6	Crosslink	26005864
Intra	DMRT1	Q9Y5R6	TRIM29	Homo sapiens	Q14134	Y2H Array	20211142
Intra	DMRT1	Q9Y5R6	DMRT1	Homo sapiens	Q9Y5R6	X-Ray Diffraction	26005864
Intra	DMRT1	Q9Y5R6	MECR	Homo sapiens	Q9BV79	Anti Tag CoIP	33961781
Intra	DMRT1	Q9Y5R6	TRIM68	Homo sapiens	Q6AZZ1	Anti Tag CoIP	33961781
Intra	DMRT1	Q9Y5R6	PIEZO1	Homo sapiens	Q92508	Anti Tag CoIP	33961781
Intra	DMRT1	Q9Y5R6	Dlg4	Rattus norvegicus	P31016	Peptide Array	20467438

Cross: Cross-species interaction Intra: Intraspecies interaction

DMRT1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P81481	DMRT1 Antibody (YA1226)	IHC-P	Human
HY-P81481A	DMRT1 Antibody (YA1226)(PBS only)	IHC-P	Human

Related Diseases

Diseases	Alias
46,Xy Sex Reversal 4	SRXY4 Chromosome 9p24.3 Deletion Syndrome 46,Xy Gonadal Dysgenesis, Partial Or Complete, With 9p24.3 Deletion 46xy Sex Reversal 4 46,Xy Gonadal Dysgenesis Complete Or Partial With 9p24.3 Deletion
Germ Cell Tumor
46,Xy Sex Reversal	Swyer Syndrome Pure Gonadal Dysgenesis 46,Xy Gonadal Dysgenesis, Xy Female Type Gonadal Dysgenesis, 46,Xy 46,Xy Cgd 46,Xy Complete Gonadal Dysgenesis 46,Xy Pure Gonadal Dysgenesis 46 Xy Gonadal Dysgenesis 46, Xy Cgd 46, Xy Complete Gonadal Dysgenesis 46, Xy Pure Gonadal Dysgenesis Xy Pure Gonadal Dysgenesis Female With 46,Xy Karyotype Xy Females
Gonadal Dysgenesis	Gonadal Dysgenesis Syndrome Turner Syndrome
Hermaphroditism
Mixed Germ Cell-Sex Cord Neoplasm	Mixed Germ Cell-Sex Cord-Stromal Tumor Mixed Germ Cell-Sex Cord Tumor
Disorder Of Sexual Development	Disorder Of Sex Development Disorders Of Sex Development Sex Development Disorder Sex Differentiation Disease Dsd Sex Differentiation Disorders
Childhood Germ Cell Cancer	Pediatric Germ Cell Tumor Paediatric Germ Cell Cancer Paediatric Germ Cell Neoplasm Pediatric Germ Cell Cancer Pediatric Germ Cell Neoplasm
Spermatocytoma	Spermatocytic Seminoma
Ovarian Gonadoblastoma
Chromosome 9p Deletion Syndrome	Monosomy 9p Monosomy 9p Syndrome Alfi Syndrome 9p Syndrome Chromosome 9p Deletion 9p Deletion 9p Monosomy Deletion 9p Partial Monosomy 9p 9p Deletion Syndrome 9p- Syndrome Alfi'S Syndrome Chromosome 9, Partial Trisomy 9p
Seminoma	Seminoma, Pure
Teratoma	Teratomas
45,X/46,Xy Mixed Gonadal Dysgenesis	45,X/46,Xy Mgd 45,X0/46,Xy Mgd 45,X0/46,Xy Mixed Gonadal Dysgenesis
Mixed Gonadal Dysgenesis	Gonadal Dysgenesis Mixed Gonadal Dysgenesis, Mixed
46,Xx Sex Reversal	46,Xx Testicular Disorder Of Sex Development 46,Xx Testicular Dsd De La Chapelle Syndrome Srxx Xx, Male Syndrome 46, Xx Testicular Disorders Of Sex Development
Persistent Mullerian Duct Syndrome	Persistent Müllerian Duct Syndrome Pmds Persistent Oviduct Syndrome Persistent Muellerian Duct Syndrome Female Genital Ducts In Otherwise Normal Male Hernia Uteri Inguinale Persistent Mullerian Duct Syndrome, Types 1 And 2 Persistent Mullerian Derivatives
Spermatogenic Failure 8	SPGF8
Testicular Disease	Testicular Dysfunction Testicular Diseases Disorder Of Testis Testis Disorder Testicular Disorders
Gonadoblastoma	GBY
Ovarian Dysgenesis 2	Premature Ovarian Failure 4 ODG2 Ovarian Dysgenesis, Hypergonadotropic, X-Linked Ovarian Failure, Hypergonadotropic, Due To Ovarian Dysgenesis Ovarian Failure Hypergonadotropic Due To Ovarian Dysgenesis X-Linked Hypergonadotropic Ovarian Dysgenesis POF4 Dysgenesis, Ovarian, Type 2
Testicular Germ Cell Cancer	Germ Cell Tumor Of Testis Testicular Germ Cell Tumor Testicular Germ Cell Neoplasm Testicular Malignant Germ Cell Tumor
Hypogonadotropic Hypogonadism	Klinefelter Syndrome Klinefelter'S Syndrome Xxy Syndrome Xxy Trisomy Hypogonadotropism 47, Xxy Congenital Idiopathic Hypogonadotropic Hypogonadism Isolated Congenital Gonadotropin Deficiency 47,Xxy Syndrome 47, Xxy Syndrome Klinefelters Syndrome Hypogonadism Klinefelter Syndrome In Males Klinefelter Syndrome, Unspecified Klinefelter Syndrome Karyotype 47, Xxy
Spermatogenic Failure, X-Linked, 1	Sertoli Cell-Only Syndrome Germinal Cell Aplasia Del Castillo Syndrome SPGFX1 X-Linked Spermatogenic Failure 1 Congenital Absence Of Germinal Epithelium Of Testes
Spermatogenic Failure 10	SPGF10 Spermatogenic Failure With Defective Sperm Annulus
Spermatogenic Failure	Azoospermia Spgf Spermatogenic Failure, Susceptibility To Absent Sperm Aspermatogenesis Infertility Due To Azoospermia Hypospermatogenesis Azoospermatism
Mixed Germ Cell Cancer	Mixed Germ Cell Tumor Mixed Germ Cell Neoplasm Mixed Germ Cell Tumour Mixed Teratoma And Seminoma
Pseudohermaphroditism	Indeterminate Sex And Pseudohermaphroditism
Cryptorchidism, Unilateral Or Bilateral	Cryptorchidism Undescended Testicle Undescended Testis Cryptorchism Undescended Testicles CRYPTO Impaired Testicular Descent Cryptosporidiosis Retained Testis Unilateral Cryptorchidism Unilateral Undescended Testis Nondescent Unilateral Testicle Unilateral Cryptorchism Ectopic Testis, Unilateral Bilateral Cryptorchidism Bilateral Cryptorchism Bilateral Nondescent Testicle Bilateral Undescended Testes Bilateral Ectopic Testes
Complete Androgen Insensitivity Syndrome	Cais Complete Androgen Resistance Syndrome Androgen Insensitivity Syndrome Complete Androgen Insensitivity, Complete Androgen-Insensitivity Syndrome Testicular Feminization
Androgen Insensitivity Syndrome	Androgen Resistance Syndrome AIS Testicular Feminization Syndrome Androgen Receptor Deficiency Dhtr Deficiency Dihydrotestosterone Receptor Deficiency Ar Deficiency Testicular Feminization Tfm Androgen Insensitivity Androgen-Insensitivity Syndrome Goldberg-Maxwell Syndrome Complete Androgen Insensitivity Syndrome Cais Feminisation - Testicular Goldberg - Maxwell Syndrome Androgen Insensitivity Syndrome, Complete Morris Syndrome Ary AR Insensitivity Syndrome, Androgen Androgen Insensitivity Nos
Campomelic Dysplasia	Acampomelic Campomelic Dysplasia Camptomelic Dysplasia Campomelic Dysplasia With Autosomal Sex Reversal Cmpd CMD1 Cmpd1 Cmpd1/Sra1 Acampomelic Campomelic Dysplasia With Autosomal Sex Reversal Campomelic Dwarfism Campomelic Syndrome Dysplasia, Campomelic Chronic Myeloproliferative Disorder Familial Dilated Cardiomyopathy
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome	Wagr Syndrome 11p Partial Monosomy Syndrome Chromosome 11p13 Deletion Syndrome Wilms Tumor, Aniridia, Genitourinary Anomalies And Mental Retardation Syndrome 11p Deletion Syndrome Chromosome 11p Deletion Syndrome Wagr Complex Wilms Tumor-Aniridia-Genitourinary Anomalies-Intellectual Disability Syndrome Deletion 11p13 WAGR Wilms Tumor-Aniridia-Genitourinary Anomalies-Mental Retardation Syndrome Chromosome 11p Deletion 11p Deletion 11p Monosomy Deletion 11p Monosomy 11p Partial Monosomy 11p Agr Triad Wilms Tumor-Aniridia-Gonadoblastoma-Mental Retardation Syndrome Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation Syndrome Wagr Contiguous Gene Syndrome Wilms Tumor-Aniridia-Genital Anomalies-Retardation Syndrome Wilms Tumor-Aniridia-Genitourinary Anomalies-Mr Syndrome Del(11)(P13) Monosomy 11p13 Chromosome 11, Deletion 11p
Testicular Cancer	Testis Cancer Testicular Carcinoma Testicular Neoplasms Malignant Neoplasm Of Testis Childhood Neoplasm Of The Testis Neoplasm Of Testis Pediatric Testicular Neoplasm Testicular Tumor Testis Neoplasm Testicular Tumors Testicular Neoplasm Testicular Malignant Germ Cell Tumor Childhood Testicular Neoplasm Carcinoma Of The Testis Cancer Of Testis Malignant Neoplasm Of Testis, Nos Malignant Neoplasm Of Testis, Unspecified Malignant Tumour Of Testis Testicle Cancer Primary Malignant Neoplasm Of Testis
Inguinal Hernia	Hernia Inguinal Hernia, Inguinal Inguinal Hernias Bubonocele Indirect Inguinal Hernia Direct Inguinal Hernia Oblique Inguinal Hernia Scrotal Hernia Ih - [Inguinal Hernia]
Premature Menopause	Primary Ovarian Insufficiency Premature Ovarian Failure Hypergonadotropic Hypogonadism Premature Ovarian Insufficiency Menopause - Premature Menopause Praecox Menopause Premature Menopause, Premature Female Hypergonadotropic Hypogonadism Hypergonadotrophic Ovarian Failure Primary Female Hypogonadism Pof - [Premature Ovarian Failure] Ovarian Failure Ovarian Secretion Suppression Ovary Hyposecretion Ovary Secretion Deficiency Premature Menopause Nos
Lipoid Congenital Adrenal Hyperplasia	Congenital Adrenal Hyperplasia Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency Congenital Lipoid Adrenal Hyperplasia Lipoid Cah Lipoid Adrenal Hyperplasia Adrenal Hyperplasia 1 Cah Clah LCAH Adrenal Hyperplasia I Lipoid Hyperplasia, Congenital, Of Adrenal Cortex With Male Pseudohermaphroditism Congenital Adrenal Hyperplasia Lipoid Adrenal Hyperplasia, Congenital Congenital Adrenal Hyperplasia, Lipoid AH1 Congenital Lipoid Hyperplasia Of Adrenal Cortex With Male Pseudohermaphroditism Adrenal Hyperplasia Congenital Hyperplasia, Adrenal, Lipoid, Congenital Congenital Adrenogenital Disorders Associated With Enzyme Deficiency Congenital Adrenal Cortical Hyperplasia Congenital Adrenal Gland Hyperplasia Congenital Adrenogenital Syndrome Congenital Hyperadrenocorticism Congenital Adrenogenitalism Congenital Female Adrenal Pseudohermaphroditism

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03828	DMRT1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS22470	Dmrt1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28993	Dmrt1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	DMRT1	VGNC	VGNC:40002
Bos taurus	DMRT1	VGNC	VGNC:28110
Mus musculus	DMRT1	MGD	MGI:1354733
Felis catus	DMRT1	VGNC	VGNC:61528
Rattus norvegicus	DMRT1	RGD	RGD:621640
Others	DMRT1	NCBI