VSX1 Gene Summary [Human]
The protein encoded by this gene contains a paired-like homeodomain and binds to the core of the locus control region of the red/green visual pigment gene cluster. The encoded protein may regulate expression of the cone opsin genes early in development. Mutations in this gene can cause posterior polymorphous corneal dystrophy and keratoconus. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | VSX1 |
| Official Name | visual system homeobox 1 [Source:HGNC Symbol;Acc:HGNC:12723] |
| Ensembl ID | ENSG00000100987 |
| Bio databases IDs | |
| Aliases | visual system homeobox 1 |
| Synonyms | CAASDS, CHX10-like, KTCN, KTCN1, LOC682152, PPCD, PPCD1, PPD, RINX, visual system homeobox 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 VSX1 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 factor activity, sequence-specific DNA binding
- transcription regulator
- double-stranded DNA binding
- nuclear localization sequence
- protein binding
- sequence-specific DNA binding
- homeodomain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- keratoconus type 1
- craniofacial anomalies and anterior segment dysgenesis syndrome
- posterior polymorphous corneal dystrophy
role in cell
- expression in
- formation
- morphology
- differentiation
- development
- abnormal morphology
- electrophysiology
- synaptic input
- specification
- maturation
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
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human VSX1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- retinal bipolar neuron differentiation
- regulation of transcription, DNA-dependent
- neuron maturation
- neuron development
- visual perception
- 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
- sequence-specific DNA binding transcription factor activity
- protein binding
- transcription regulatory region sequence-specific DNA binding
- sequence-specific DNA binding RNA polymerase II transcription factor activity