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PAX6 - paired box 6
Canonical
Pathway
Entrez Gene Name: paired box 6
Entrez GeneID: Human(5080)
, Mouse(18508), Rat(25509)
, Mouse(18508), Rat(25509) Synonyms: 1500038E17Rik, AEY11, AN, AN2, D11S812E, Dey, Gsfaey11, MGC17209, MGDA, PAX6, Pax6 protein (containing exon 5a), Sey, WAGR
Gene Summary
- Human (5080): This gene encodes paired box gene 6, one of many human homologs of the Drosophila melanogaster gene prd. In addition to the hallmark feature of this gene family, a conserved paired box domain, the encoded protein also contains a homeo box domain. Both domains are known to bind DNA, and function as regulators of gene transcription. This gene is expressed in the developing nervous system, and in developing eyes. Mutations in this gene are known to cause ocular disorders such as aniridia and Peter's anomaly. Alternatively spliced transcript variants encoding either the same or different isoform have been found for this gene. [provided by RefSeq]
- Rat (25509): homeodomain (HD)-containing transcription factor; may play a role in the differentiation of the hindbrain somatic (SM) motoneurones and V1 interneurones in the hindbrain and/or spinal cord [RGD]
Molecular Functions | Biological Process | Cellular Components | Protein Domains | Subcellular Locations | Pathways | Literature References | IPA Extras
Cell Regulation
Biological Process
anterior/posterior pattern formation, astrocyte differentiation, axon guidance, axonogenesis, blood vessel development, brain development, camera-type eye development, cell differentiation, cell fate commitment, cell fate determination, central nervous system development, cerebral cortex regionalization, commitment of neuronal cell to specific neuron type in forebrain, cornea development in camera-type eye, dorsal/ventral axis specification, dorsal/ventral pattern formation, eye development, eye photoreceptor cell development, forebrain anterior/posterior pattern formation, forebrain development, forebrain dorsal/ventral pattern formation, forebrain-midbrain boundary formation, glucose homeostasis, hindbrain development, iris morphogenesis, keratinocyte differentiation, lacrimal gland development, lens development in camera-type eye, multicellular organismal development, negative regulation of cell proliferation, negative regulation of epithelial cell proliferation, negative regulation of neurogenesis, negative regulation of neuron differentiation, neuron fate commitment, neuron migration, oligodendrocyte cell fate specification, organ morphogenesis, pallium development, pancreatic A cell development, pituitary gland development, positive regulation of cell fate specification, positive regulation of epithelial cell differentiation, positive regulation of gene expression, positive regulation of neuroblast proliferation, positive regulation of transcription from RNA polymerase II promoter, positive regulation of transcription, DNA-dependent, protein localization to organelle, protein ubiquitination, regulation of cell migration, regulation of epithelial cell proliferation, regulation of gene expression, regulation of neurogenesis, regulation of neuron differentiation, regulation of timing of cell differentiation, regulation of transcription from RNA polymerase II promoter, regulation of transcription from RNA polymerase II promoter involved in somatic motor neuron fate commitment, regulation of transcription from RNA polymerase II promoter involved in spinal cord motor neuron fate specification, regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification, regulation of transcription, DNA-dependent, response to wounding, salivary gland morphogenesis, smoothened signaling pathway, transcription from RNA polymerase II promoter, transcription, DNA-dependent, visual perception
Cellular Components
cytoplasm, intracellular, intracellular part, nuclear chromatin, nucleolus, nucleus, transcription factor complex
Literature References
- 15882634Campbell K. Cortical neuron specification: it has its time and place.Neuron 2005 May 05;46(3):373-6
- 20211142Ravasi T, Suzuki H, Cannistraci CV, Katayama S, Bajic VB, Tan K, Akalin A, Schmeier S, Kanamori-Katayama M, Bertin N, Carninci P, Daub CO, Forrest AR, Gough J, Grimmond S, Han JH, Hashimoto T, Hide W, Hofmann O, Kamburov A, Kaur M, Kawaji H, Kubosaki A, Lassmann T, van Nimwegen E, MacPherson CR, Ogawa C, Radovanovic A, Schwartz A, Teasdale RD, Tegnér J, Lenhard B, Teichmann SA, Arakawa T, Ninomiya N, Murakami K, Tagami M, Fukuda S, Imamura K, Kai C, Ishihara R, Kitazume Y, Kawai J, Hume DA, Ideker T, Hayashizaki Y. An atlas of combinatorial transcriptional regulation in mouse and man.Cell 2010 03 5;140(5):744-52
- 11301001Marquardt T, Ashery-Padan R, Andrejewski N, Scardigli R, Guillemot F, Gruss P. Pax6 is required for the multipotent state of retinal progenitor cells.Cell 2001 Apr 6;105(1):43-55
Molecular Functions
AT DNA binding, DNA binding, double-stranded DNA binding, protein binding, R-SMAD binding, RNA polymerase II core promoter sequence-specific DNA binding, sequence-specific DNA binding, sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding transcription factor activity, transcription regulatory region DNA binding, ubiquitin protein ligase binding, ubiquitin-protein ligase activity
Protein Domains
AT DNA binding, DNA binding, double-stranded DNA binding, homeodomain, PAX, protein binding, transcription activation domain, transcription factor, transcription regulator, ubiquitin protein ligase binding, ubiquitin-protein ligase
Subcellular Locations
Cytoplasm, intracellular space, intracellular structures, nuclear chromatin, nuclear fraction, Nucleus