DMRT1 Gene Summary [Human]
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]
Details
| Type | Retained Intron |
| Official Symbol | DMRT1 |
| Official Name | doublesex and mab-3 related transcription factor 1 [Source:HGNC Symbol;Acc:HGNC:2934] |
| Ensembl ID | ENSG00000137090 |
| Bio databases IDs | |
| Aliases | doublesex and mab-3 related transcription factor 1, DM domain expressed in testis 1 |
| Synonyms | CT154, DMT1, doublesex and mab-3 related transcription factor 1 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human DMRT1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Double-sex mab3 related transcription factor 1
- DM DNA binding domain
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional activator activity
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- transcription regulator
- nucleic acid binding
- double-stranded DNA binding
- chromatin binding
- protein binding
- sequence-specific DNA binding
- identical protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- epithelial cancer
- tumorigenesis
- testicular carcinoma
- testicular cancer
- testicular germ cell tumor
- germ cell neoplasia
- 46, XY sex reversal type 4
- major depression
- dementia
- IgA deficiency
role in cell
- migration
- number
- expression in
- apoptosis
- differentiation
- mitosis
- formation
- pluripotency
- morphogenesis
- abnormal morphology
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- Cytoplasm
- nucleoplasm
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human DMRT1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- positive regulation of male gonad development
- spermatogenesis
- cell morphogenesis
- Sertoli cell differentiation
- Sertoli cell development
- germ cell migration
- positive regulation of mitosis
- positive regulation of transcription from RNA polymerase II promoter
- male germ cell proliferation
- negative regulation of meiosis
- meiosis I
- regulation of transcription from RNA polymerase II promoter
- regulation of nodal signaling pathway
- negative regulation of transcription from RNA polymerase II promoter
- male sex determination
- sex differentiation
- oocyte development
- positive regulation of meiosis I
- male sex differentiation
- intracellular signal transduction
Cellular Component
Where in the cell the gene product is active
- female germ cell nucleus
- nucleus
- cytoplasm
- chromatin
Molecular Function
What the gene product does at the molecular level
- identical protein binding
- metal ion binding
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- core promoter proximal region sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
- chromatin binding
- sequence-specific DNA binding RNA polymerase II transcription factor activity