SOX30 Gene Summary [Human]
This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein acts as a transcriptional regulator when present in a complex with other proteins. It can activate p53 transcription to promote tumor cell apoptosis in lung cancer. The protein may be involved in the differentiation of developing male germ cells. Alternative splicing of this gene results in multiple transcript variants. A related pseudogene has been identified on chromosome 5. [provided by RefSeq, Apr 2015]
Details
| Type | Protein Coding |
| Official Symbol | SOX30 |
| Official Name | SRY-box transcription factor 30 [Source:HGNC Symbol;Acc:HGNC:30635] |
| Ensembl ID | ENSG00000039600 |
| Bio databases IDs | |
| Aliases | SRY-box transcription factor 30 |
| Synonyms | LOC684093, SRY-box transcription factor 30, SRY (sex determining region Y)-box 30 |
| 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 SOX30 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 regulatory region sequence-specific binding transcriptional activator activity
- transcription regulator
- beta-catenin binding
- nucleic acid binding
- high mobility group (HMG)-box domain superfamily
- protein binding
- sequence-specific DNA binding
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional repressor activity
- double-stranded DNA binding
- HMG (high mobility group) box
- HMG-box domain
- high mobility group
- transcription factor activity
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- lung neoplasm
- male infertility
role in cell
- expression in
- apoptosis
- proliferation
- formation in
- formation
- development
- differentiation
- transactivation in
- stage III spermatogenesis
- meiosis
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
- intracellular membrane-bounded organelle
- Cytoplasm
- cytosol
- chromosome
- nucleoplasm
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SOX30 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
- spermatid development
- response to corticosteroid stimulus
- negative regulation of Wnt receptor signaling pathway
- positive regulation of transcription from RNA polymerase II promoter
- regulation of transcription from RNA polymerase II promoter
Cellular Component
Where in the cell the gene product is active
- nucleus
- cytoplasm
- intracellular membrane-bounded organelle
- chromocenter
- cytosol
- chromatin
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- 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
- beta-catenin binding
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription
- sequence-specific DNA binding RNA polymerase II transcription factor activity