SRY Gene Summary [Human]
This intronless gene encodes a transcription factor that is a member of the high mobility group (HMG)-box family of DNA-binding proteins. This protein is the testis-determining factor (TDF), which initiates male sex determination. Mutations in this gene give rise to XY females with gonadal dysgenesis (Swyer syndrome); translocation of part of the Y chromosome containing this gene to the X chromosome causes XX male syndrome. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | SRY |
| Official Name | sex determining region Y [Source:HGNC Symbol;Acc:HGNC:11311] |
| Ensembl ID | ENSG00000184895 |
| Bio databases IDs | |
| Aliases | sex determining region Y, testis-determining factor |
| Synonyms | sex determining region Y, SRXX1, SRXY1, TDF, TDY |
| Species | Human, Homo sapiens |
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 SRY often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- transcription regulator
- DNA binding domain
- high mobility group (HMG)-box domain superfamily
- HMG (high mobility group) box
- HMG-box domain
- high mobility group
- transcription factor binding
- protein binding
- DNA binding
Pathways
Biological processes and signaling networks where the SRY gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- 46, XY sex reversal type 1
- 46, XY disorders of sex development
- SRY-related 46,XY true hermaphroditism
- sex reversal
- gonadal dysgenesis
- 46,XX sex reversal type 1
role in cell
- expression in
- differentiation
- activation in
- growth
- cell viability
- recruitment in
- transcription in
- signaling in
- repression in
- invasiveness
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
- nuclear fraction
- Cytoplasm
- nucleoplasm
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SRY gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of transcription from RNA polymerase II promoter
- male sex determination
- sex differentiation
- neuron differentiation
- positive regulation of male gonad development
- positive regulation of transcription, DNA-dependent
- positive regulation of gene expression
- brain development
- positive regulation of transcription from RNA polymerase II promoter
Cellular Component
Where in the cell the gene product is active
- nucleus
- cytoplasm
- nuclear speck
- chromatin
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- DNA binding
- calmodulin binding
- protein binding
- RNA polymerase II 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
- sequence-specific DNA binding RNA polymerase II transcription factor activity