OTX1 Gene Summary [Human]
This gene encodes a member of the bicoid sub-family of homeodomain-containing transcription factors. The encoded protein acts as a transcription factor and may play a role in brain and sensory organ development. A similar protein in mouse is required for proper brain and sensory organ development and can cause epilepsy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]
Details
| Type | Protein Coding |
| Official Symbol | OTX1 |
| Official Name | orthodenticle homeobox 1 [Source:HGNC Symbol;Acc:HGNC:8521] |
| Ensembl ID | ENSG00000115507 |
| Bio databases IDs | |
| Aliases | orthodenticle homeobox 1 |
| Synonyms | A730044F23Rik, jv, LOC100364498, orthodenticle homeobox 1, OTX1X |
| 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 OTX1 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
- nucleic acid binding
- double-stranded DNA binding
- Otx1 transcription factor
- protein binding
- sequence-specific DNA binding
- homeodomain
Pathways
Biological processes and signaling networks where the OTX1 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
- rectum cancer
- breast cancer
- lung adenocarcinoma
- liver cancer
- epithelial cancer
- neoplasia
- endometrial adenocarcinoma
- endometrial adenocarcinoma formation
- hepatocellular carcinoma
- epileptic seizure
role in cell
- expression in
- apoptosis
- proliferation
- migration
- phosphorylation in
- differentiation
- invasion by
- retraction
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
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human OTX1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- midbrain development
- diencephalon morphogenesis
- inner ear morphogenesis
- anterior/posterior pattern specification
- positive regulation of transcription from RNA polymerase II promoter
- metencephalon development
- regulation of transcription from RNA polymerase II promoter
Cellular Component
Where in the cell the gene product is active
- nucleus
- chromatin
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
- sequence-specific DNA binding RNA polymerase II transcription factor activity