DMRT1

DMRT1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 4YJ0
Identifiers
Aliases	DMRT1, CT154, DMT1, doublesex and mab-3 related transcription factor 1
External IDs	MGI: 1354733 HomoloGene: 9280 GeneCards: DMRT1
Gene ontology Molecular function • DNA binding • sequence-specific DNA binding • RNA polymerase II regulatory region sequence-specific DNA binding • transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding • chromatin binding • metal ion binding • protein heterodimerization activity • core promoter proximal region sequence-specific DNA binding • transcription factor activity, sequence-specific DNA binding • protein homodimerization activity Cellular component • cytoplasm • nucleus Biological process • cell differentiation • intracellular signal transduction • male gonad development • regulation of transcription, DNA-templated • regulation of nodal signaling pathway • Sertoli cell differentiation • positive regulation of meiosis I • negative regulation of transcription from RNA polymerase II promoter • transcription from RNA polymerase II promoter • male sex determination • negative regulation of meiotic nuclear division • Sertoli cell development • oocyte development • transcription, DNA-templated • multicellular organism development • developmental process involved in reproduction • male germ cell proliferation • male sex differentiation • cell morphogenesis • spermatogenesis • positive regulation of mitotic nuclear division • positive regulation of male gonad development • germ cell migration • positive regulation of transcription from RNA polymerase II promoter • sex differentiation Sources:Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	1761	50796
Ensembl	ENSG00000137090	ENSMUSG00000024837
UniProt	Q9Y5R6	Q9QZ59
RefSeq (mRNA)	NM_021951	NM_015826
RefSeq (protein)	NP_068770	NP_056641
Location (UCSC)	Chr 9: 0.84 – 0.97 Mb	Chr 19: 25.51 – 25.6 Mb
PubMed search

4YJ0

1761

50796

ENSG00000137090

ENSMUSG00000024837

Q9Y5R6

Q9QZ59

NM_021951

NM_015826

NP_068770

NP_056641

Doublesex and mab-3 related transcription factor 1, also known as DMRT1, is a protein which in humans is encoded by the DMRT1 gene.

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, and is found to be the key sex-determining factor in chickens. This gene exhibits a gonad-specific and sexually dimorphic expression pattern, just like the related doublesex gene in fruit flies. Defective testicular development and XY feminization occur when this gene is hemizygous.

The DMRT1 gene is located at the end of the 9th chromosome. This gene is a dose sensitive transcription factor protein that regulates Sertoli cells and germ cell. The majority DMRT1 protein is located in the testicular cord and Sertoli cells, with a small amount in the germ cells. Two copies of the DMRT1 gene are required for normal sexual development. When a DMRT1 gene is lost the most common disease is chromosome 9p deletion, which causes abnormal testicular formation and feminization. The DMRT1 gene is critical in the male sex determination and without this gene the default female characteristic takes over and male characteristic is slight or non-existent. In the knockout model of this gene, the mice showed changes in both Sertoli and germ cells soon after the gonadal ridge was formed. The main defects associated with this knockout gene were developmental arrest, excess proliferation of germ cells, and failure to undergo meiosis, mitosis, or migration. Thus, the knockout model shows that loss of the DMRT1 gene is associated with incomplete germ cell development leading to infertility, abnormal testicular formation, and/or feminization of the affected individual.

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