SIX1 Gene Summary [Human]
The protein encoded by this gene is a homeobox protein that is similar to the Drosophila 'sine oculis' gene product. This gene is found in a cluster of related genes on chromosome 14 and is thought to be involved in limb development. Defects in this gene are a cause of autosomal dominant deafness type 23 (DFNA23) and branchiootic syndrome type 3 (BOS3). [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | SIX1 |
| Official Name | SIX homeobox 1 [Source:HGNC Symbol;Acc:HGNC:10887] |
| Ensembl ID | ENSG00000126778 |
| Bio databases IDs | |
| Aliases | SIX homeobox 1 |
| Synonyms | BOS3, DFNA23, sine oculis-related homeobox 1, SIX homeobox 1, TIP39 |
| 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 SIX1 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
- nucleic acid binding
- transcription factor binding
- Six domain
- chromatin binding
- protein binding
- sequence-specific DNA binding
- DNA binding
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- Transcriptional regulator, SIX1, N-terminal SD domain
- double-stranded DNA binding
- homeodomain
- transcription factor activity
Pathways
Biological processes and signaling networks where the SIX1 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
- HER2-positive breast cancer
- neoplasia
- liver cancer
- epithelial cancer
- metastasis
- prostate cancer
- prostatic carcinoma
- luminal A breast cancer
- hepatocellular carcinoma
- adenoid cystic carcinoma of salivary gland
role in cell
- activation in
- proliferation
- apoptosis
- expression in
- binding in
- acetylation in
- production in
- morphology
- quantity
- migration
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
- nucleoplasm
- nucleoli
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SIX1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- inner ear development
- positive regulation of brown fat cell differentiation
- regulation of synaptic growth at neuromuscular junction
- myotome development
- ureter smooth muscle cell differentiation
- sensory perception of sound
- kidney development
- positive regulation of transcription, DNA-dependent
- apoptotic process
- positive regulation of ureteric bud formation
- regulation of skeletal muscle cell proliferation
- regulation of epithelial cell proliferation
- protein localization to nucleus
- neural crest cell differentiation
- cochlea morphogenesis
- regulation of protein localization
- pattern specification process
- pharyngeal system development
- epithelial cell differentiation
- positive regulation of branching involved in ureteric bud morphogenesis
- aorta morphogenesis
- positive regulation of mesenchymal cell proliferation involved in ureter development
- Notch signaling pathway
- myoblast migration
- inner ear morphogenesis
- myoblast proliferation
- organ induction
- positive regulation of myoblast proliferation
- gene expression
- regulation of skeletal muscle cell differentiation
- fungiform papilla morphogenesis
- facial nerve morphogenesis
- outflow tract morphogenesis
- middle ear morphogenesis
- regulation of neuron differentiation
- generation of neurons
- positive regulation of transcription from RNA polymerase II promoter
- mesonephric tubule formation
- regulation of branch elongation involved in ureteric bud branching
- negative regulation of neuron apoptotic process
- thymus development
- negative regulation of transcription from RNA polymerase II promoter
- neuron fate specification
- skeletal muscle fiber development
- otic vesicle development
- embryonic cranial skeleton morphogenesis
- regulation of transcription, DNA-dependent
- embryonic skeletal system morphogenesis
- regulation of transcription from RNA polymerase II promoter
- mesenchymal cell proliferation involved in ureter development
- olfactory placode formation
- metanephric mesenchyme development
- thyroid gland development
- ureteric bud development
- branching involved in ureteric bud morphogenesis
- skeletal muscle tissue development
- positive regulation of secondary heart field cardioblast proliferation
- regulation of satellite cell proliferation
Cellular Component
Where in the cell the gene product is active
- nucleus
- transcription factor complex
- cytoplasm
- nucleolus
- chromatin
- nucleoplasm
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
- transcription regulatory 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
- chromatin binding
- sequence-specific DNA binding RNA polymerase II transcription factor activity
- transcription coactivator binding