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

Homo sapiens

Also known as DMT1; CT154

Gene ID: 1761 | Gene type: protein coding

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

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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03828	DMRT1 Human Pre-designed siRNA Set A		/	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