PAX6 Gene Summary [Human]
This gene encodes paired box protein Pax-6, one of many human homologs of the Drosophila melanogaster gene prd. In addition to a conserved paired box domain, a hallmark feature of this gene family, the encoded protein also contains a homeobox domain. Both domains are known to bind DNA and function as regulators of gene transcription. Activity of this protein is key in the development of neural tissues, particularly the eye. This gene is regulated by multiple enhancers located up to hundreds of kilobases distant from this locus. Mutations in this gene or in the enhancer regions can cause ocular disorders such as aniridia and Peter's anomaly. Use of alternate promoters and alternative splicing results in multiple transcript variants encoding different isoforms. Interestingly, inclusion of a particular alternate coding exon has been shown to increase the length of the paired box domain and alter its DNA binding specificity. Consequently, isoforms that carry the shorter paired box domain regulate a different set of genes compared to the isoforms carrying the longer paired box domain. [provided by RefSeq, Mar 2019]
Details
| Type | Protein Coding |
| Official Symbol | PAX6 |
| Official Name | paired box 6 [Source:HGNC Symbol;Acc:HGNC:8620] |
| Ensembl ID | ENSG00000007372 |
| Bio databases IDs | |
| Aliases | paired box 6, aniridia, keratitis, Aniridia 1, Aniridia 2 |
| Synonyms | 1500038E17Rik, AEY11, AN, AN1, AN2, ASGD5, D11S812E, Dey, FVH1, Gsfaey11, MGDA, paired box 6, Pax6 protein (containing exon 5a), Sey, WAGR |
| 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 PAX6 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- SMAD binding
- transcription regulator
- transcription activation domain
- transcription factor binding
- chromatin binding
- AT DNA binding
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- 'Paired box' domain
- homeodomain
- Paired Box domain
- histone acetyltransferase binding
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional activator activity
- ubiquitin protein ligase binding
- protein kinase binding
- nucleic acid binding
- HTH_ARSR
- protein domain specific binding
- protein binding
- sequence-specific DNA binding
- HTH_CRP
- DNA binding
- RNA binding
- Homeodomain-like domain
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional repressor activity
- double-stranded DNA binding
- transcription factor activity
Pathways
Biological processes and signaling networks where the PAX6 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
- aniridia
- foveal hypoplasia 1 with anterior segment anomalies
- irido-corneo-trabecular dysgenesis
- neuroticism
- autosomal dominant ocular coloboma
- foveal hypoplasia
- anterior segment dysgenesis
- chordoma
- bone cancer
- foveal hypoplasia 1
role in cell
- activation in
- expression in
- quantity
- growth
- cell death
- apoptosis
- phosphorylation in
- proliferation
- function
- 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
- Cytoplasm
- intracellular space
- membrane surface
- cytosol
- nucleoplasm
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PAX6 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- retina development in camera-type eye
- ventral spinal cord development
- signal transduction involved in regulation of gene expression
- forebrain dorsal/ventral pattern formation
- transcription from RNA polymerase II promoter
- axon guidance
- dorsal/ventral axis specification
- lens development in camera-type eye
- cellular response to prostaglandin E stimulus
- cerebral cortex regionalization
- neuroblast proliferation
- negative regulation of neuroblast proliferation
- lacrimal gland development
- cellular response to glucose stimulus
- positive regulation of transcription, DNA-dependent
- regulation of neuron projection development
- cell fate determination
- forebrain-midbrain boundary formation
- cerebellum development
- commitment of neuronal cell to specific neuron type in forebrain
- positive regulation of cell fate specification
- eye photoreceptor cell development
- smoothened signaling pathway
- positive regulation of neuroblast proliferation
- habenula development
- organ morphogenesis
- pituitary gland development
- keratinocyte differentiation
- rhombomere morphogenesis
- central nervous system development
- neural crest cell migration
- positive regulation of epithelial cell differentiation
- positive regulation of gene expression
- negative regulation of epithelial cell proliferation
- glucose homeostasis
- negative regulation of neurogenesis
- protein localization to organelle
- olfactory bulb mitral cell layer development
- negative regulation of neuron differentiation
- anatomical structure development
- response to wounding
- nervous system development
- oligodendrocyte cell fate specification
- positive regulation of transcription from RNA polymerase II promoter
- salivary gland morphogenesis
- interkinetic nuclear migration
- negative regulation of transcription from RNA polymerase II promoter
- cellular response to insulin stimulus
- response to ethanol
- chromatin remodeling
- blood vessel development
- neuron fate commitment
- type B pancreatic cell differentiation
- positive regulation of neuron migration
- astrocyte differentiation
- cellular response to fibroblast growth factor stimulus
- regulation of asymmetric cell division
- visual perception
- cornea development in camera-type eye
- pancreatic A cell development
- regulation of timing of cell differentiation
- regulation of transcription from RNA polymerase II promoter
- establishment of mitotic spindle orientation
- eye development
- negative regulation of protein phosphorylation
- embryonic camera-type eye morphogenesis
- cellular response to xenobiotic stimulus
- iris morphogenesis
Cellular Component
Where in the cell the gene product is active
- nucleus
- cytoplasm
- cytosol
- chromatin
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- chromatin DNA binding
- protein kinase binding
- histone acetyltransferase binding
- HMG box domain binding
- RNA polymerase II core promoter sequence-specific DNA binding
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- transcription regulatory region sequence-specific DNA binding
- AT DNA binding
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription
- sequence-specific DNA binding RNA polymerase II transcription factor activity
- transcription cofactor binding
- DNA binding
- sequence-specific DNA binding transcription factor activity
- ubiquitin protein ligase binding
- RNA binding
- protein binding
- R-SMAD binding
- co-SMAD binding