SIX5 Gene Summary [Human]
The protein encoded by this gene is a homeodomain-containing transcription factor that appears to function in the regulation of organogenesis. This gene is located downstream of the dystrophia myotonica-protein kinase gene. Mutations in this gene are a cause of branchiootorenal syndrome type 2. [provided by RefSeq, Jul 2009]
Details
| Type | Protein Coding |
| Official Symbol | SIX5 |
| Official Name | SIX homeobox 5 [Source:HGNC Symbol;Acc:HGNC:10891] |
| Ensembl ID | ENSG00000177045 |
| Bio databases IDs | |
| Aliases | SIX homeobox 5 |
| Synonyms | BOR2, DMAHP, MDMAHP, sine oculis-related homeobox 5, SIX homeobox 5, TrexBF |
| 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 SIX5 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
- Transcriptional regulator, SIX1, N-terminal SD domain
- transcription regulator
- nucleic acid binding
- double-stranded DNA binding
- protein binding
- sequence-specific DNA binding
- homeodomain
- DNA binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- branchiootorenal syndrome 2
- azoospermia
- endometriosis
- open-angle glaucoma
- hypoplasia
- hyperplasia
- cataract disease
- oligozoospermia
- branchio-oto-renal syndrome
role in cell
- activation in
- expression in
- proliferation
- development
- abnormal morphology
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
- Golgi Apparatus
- cytosol
- nucleoplasm
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SIX5 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of transcription, DNA-dependent
- spermatid development
- lens development in camera-type eye
- 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
- transcription factor complex
- intracellular membrane-bounded organelle
- cytosol
- Golgi apparatus
- 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
- sequence-specific DNA binding RNA polymerase II transcription factor activity