Entity Details

Primary name DMRT1
Entity type gene
Source Source Link

Details

PrimaryID1761
RefseqGeneNG_009221
SymbolDMRT1
Namedoublesex and mab-3 related transcription factor 1
Chromosome9
Location9p24.3
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1999-07-06
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsDMRT1_HUMAN

GO terms

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GOName
GO:0000122 negative regulation of transcription by RNA polymerase II
GO:0000785 chromatin
GO:0000902 cell morphogenesis
GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific
GO:0000987 cis-regulatory region sequence-specific DNA binding
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific
GO:0002176 male germ cell proliferation
GO:0003682 chromatin binding
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0006357 regulation of transcription by RNA polymerase II
GO:0007281 germ cell development
GO:0007283 spermatogenesis
GO:0007548 sex differentiation
GO:0008354 germ cell migration
GO:0030238 male sex determination
GO:0035556 intracellular signal transduction
GO:0042802 identical protein binding
GO:0045835 negative regulation of meiotic nuclear division
GO:0045840 positive regulation of mitotic nuclear division
GO:0045944 positive regulation of transcription by RNA polymerase II
GO:0046661 male sex differentiation
GO:0046872 metal ion binding
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:1990837 sequence-specific double-stranded DNA binding
GO:2000020 positive regulation of male gonad development

Diseases

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Disease IDSourceNameDescription
154230 OMIM46,XY sex reversal 4 (SRXY4)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. The disease may be caused by variants affecting the gene represented in this entry.
273300 OMIMTesticular germ cell tumor (TGCT)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. The disease may be caused by variants affecting the gene represented in this entry.

Interactions

2 interactions

InteractorPartnerSourcesPublicationsLink
DMRT1DMRT1DIP26005864 details
DMRT1TRIM29BioGRID, IntAct20211142 details