InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: DMRT1

Summary

InnateDB Protein

IDBP-43949.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

DMRT1

Protein Name

doublesex and mab-3 related transcription factor 1

Synonyms

CT154; DMT1;

Species

Homo sapiens

Ensembl Protein

ENSP00000371711

InnateDB Gene

IDBG-43947 (DMRT1)

Protein Structure

UniProt Annotation

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 spermatogonia and promoting mitosis, leading to spermatogonial development and allowing abundant and continuous production of sperm. Acts both as a transcription repressor and activator: prevents meiosis by restricting retinoic acid (RA)-dependent transcription and repressing STRA8 expression and promotes spermatogonial development by activating spermatogonial differentiation genes, such as SOHLH1. Also plays a key role in postnatal sex maintenance by maintaining testis determination and preventing feminization: represses transcription of female promoting genes such as FOXL2 and activates male-specific genes. May act as a tumor suppressor. May also play a minor role in oogenesis (By similarity). {ECO:0000250}.

Subcellular Localization

Nucleus {ECO:0000255PROSITE- ProRule:PRU00070}.

Disease Associations

Testicular germ cell tumor (TGCT) [MIM:273300]: A common malignancy in males representing 95% of all testicular neoplasms. TGCTs have various pathologic subtypes including: unclassified intratubular germ cell neoplasia, seminoma (including cases with syncytiotrophoblastic cells), spermatocytic seminoma, embryonal carcinoma, yolk sac tumor, choriocarcinoma, and teratoma. {ECO:0000269PubMed:20543847}. Note=The disease may be caused by mutations affecting the gene represented in this entry.46,XY sex reversal 4 (SRXY4) [MIM:154230]: A condition characterized by male-to-female sex reversal in the presence of a normal 46,XY karyotype. Patients display complete or partial gonadal dysgenesis and a chromosome 9p deletion. {ECO:0000269PubMed:21048976, ECO:0000269PubMed:9490411, ECO:0000269PubMed:9718346}. Note=The disease may be caused by mutations affecting the gene represented in this entry.

Tissue Specificity

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

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	4 [view]
Protein-Protein	3 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0000987	core promoter proximal region sequence-specific DNA binding
GO:0003682	chromatin binding
GO:0003700	sequence-specific DNA binding transcription factor activity
GO:0042803	protein homodimerization activity
GO:0043565	sequence-specific DNA binding
GO:0046872	metal ion binding
GO:0046982	protein heterodimerization activity

Biological Process

GO:0000122	negative regulation of transcription from RNA polymerase II promoter
GO:0000902	cell morphogenesis
GO:0002176	male germ cell proliferation
GO:0003006	developmental process involved in reproduction
GO:0006351	transcription, DNA-templated
GO:0006355	regulation of transcription, DNA-templated
GO:0007283	spermatogenesis
GO:0007530	sex determination
GO:0008354	germ cell migration
GO:0008584	male gonad development
GO:0030238	male sex determination
GO:0035556	intracellular signal transduction
GO:0045835	negative regulation of meiosis
GO:0045840	positive regulation of mitosis
GO:0045944	positive regulation of transcription from RNA polymerase II promoter
GO:0046661	male sex differentiation
GO:0048599	oocyte development
GO:0060008	Sertoli cell differentiation
GO:0060009	Sertoli cell development
GO:0060903	positive regulation of meiosis I
GO:1900107	regulation of nodal signaling pathway
GO:2000020	positive regulation of male gonad development