SOX1 Gene Summary [Human]
This intronless 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 may act as a transcriptional activator after forming a protein complex with other proteins. In mice, a similar protein regulates the gamma-crystallin genes and is essential for lens development. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | SOX1 |
| Official Name | SRY-box transcription factor 1 [Source:HGNC Symbol;Acc:HGNC:11189] |
| Ensembl ID | ENSG00000182968 |
| Bio databases IDs | |
| Aliases | SRY-box transcription factor 1, SRY-related HMG-box gene 1 |
| Synonyms | BB176347, SRY-box transcription factor 1, SRY (sex determining region Y)-box 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 SOX1 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
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- transcription regulator
- double-stranded DNA binding
- nucleic acid binding
- high mobility group (HMG)-box domain superfamily
- HMG (high mobility group) box
- HMG-box domain
- high mobility group
- protein binding
- sequence-specific DNA binding
- DNA binding
Pathways
Biological processes and signaling networks where the SOX1 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
- neoplasia
- metastasis
- microphthalmia
role in cell
- differentiation
- expression in
- production
- proliferation
- development
- growth
- migration
- invasion by
- elongation
- pluripotency
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
- nucleoplasm
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SOX1 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
- neuron differentiation
- regulation of oligodendrocyte differentiation
- regulation of transcription, DNA-dependent
- brain development
- chromatin organization
- positive regulation of transcription from RNA polymerase II promoter
- lens morphogenesis in camera-type eye
- forebrain neuron development
- ventral spinal cord interneuron specification
Cellular Component
Where in the cell the gene product is active
- nucleus
- chromatin
Molecular Function
What the gene product does at the molecular level
- DNA binding
- sequence-specific DNA binding transcription factor activity
- 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