InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: PAX6

Summary

InnateDB Protein

IDBP-37438.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

PAX6

Protein Name

paired box 6

Synonyms

AN; AN2; D11S812E; FVH1; MGDA; WAGR;

Species

Homo sapiens

Ensembl Protein

ENSP00000368427

InnateDB Gene

IDBG-37434 (PAX6)

Protein Structure

UniProt Annotation

Function

Transcription factor with important functions in the development of the eye, nose, central nervous system and pancreas. Required for the differentiation of pancreatic islet alpha cells (By similarity). Competes with PAX4 in binding to a common element in the glucagon, insulin and somatostatin promoters. Regulates specification of the ventral neuron subtypes by establishing the correct progenitor domains (By similarity). Isoform 5a appears to function as a molecular switch that specifies target genes. {ECO:0000250}.

Subcellular Localization

Nucleus.

Disease Associations

Aniridia (AN) [MIM:106210]: A congenital, bilateral, panocular disorder characterized by complete absence of the iris or extreme iris hypoplasia. Aniridia is not just an isolated defect in iris development but it is associated with macular and optic nerve hypoplasia, cataract, corneal changes, nystagmus. Visual acuity is generally low but is unrelated to the degree of iris hypoplasia. Glaucoma is a secondary problem causing additional visual loss over time. {ECO:0000269PubMed:10234503, ECO:0000269PubMed:10737978, ECO:0000269PubMed:11309364, ECO:0000269PubMed:11553050, ECO:0000269PubMed:11826019, ECO:0000269PubMed:12552561, ECO:0000269PubMed:12634864, ECO:0000269PubMed:21850189, ECO:0000269PubMed:8364574, ECO:0000269PubMed:9147640, ECO:0000269PubMed:9281415, ECO:0000269PubMed:9792406, ECO:0000269PubMed:9856761, ECO:0000269PubMed:9931324, ECO:0000269Ref.25, ECO:0000269Ref.26}. Note=The disease is caused by mutations affecting the gene represented in this entry.Peters anomaly (PETAN) [MIM:604229]: Consists of a central corneal leukoma, absence of the posterior corneal stroma and Descemet membrane, and a variable degree of iris and lenticular attachments to the central aspect of the posterior cornea. {ECO:0000269PubMed:10441571, ECO:0000269PubMed:12721955, ECO:0000269PubMed:8162071}. Note=The disease is caused by mutations affecting the gene represented in this entry.Foveal hypoplasia 1 (FVH1) [MIM:136520]: An isolated form of foveal hypoplasia, a developmental defect of the eye defined as the lack of foveal depression with continuity of all neurosensory retinal layers in the presumed foveal area. Clinical features include absence of foveal pit on optical coherence tomography, absence of foveal hyperpigmentation, absence of foveal avascularity, absence of foveal and macular reflexes, decreased visual acuity, and nystagmus. Anterior segment anomalies and cataract are observed in some FVH1 patients. {ECO:0000269PubMed:8640214, ECO:0000269PubMed:9931324}. Note=The disease is caused by mutations affecting the gene represented in this entry.Keratitis hereditary (KERH) [MIM:148190]: An ocular disorder characterized by corneal opacification, recurrent stromal keratitis and vascularization. Note=The disease is caused by mutations affecting the gene represented in this entry.Coloboma of iris choroid and retina (COI) [MIM:120200]: Set of malformations resulting from abnormal morphogenesis of the optic cup and stalk, and the fusion of the fetal fissure (optic fissure). The clinical presentation of ocular coloboma is variable. Some individuals may present with minimal defects in the anterior iris leaf without other ocular defects. More complex malformations create a combination of iris, uveoretinal and/or optic nerve defects without or with microphthalmia or even anophthalmia. {ECO:0000269PubMed:12721955}. Note=The disease is caused by mutations affecting the gene represented in this entry.Coloboma of optic nerve (COLON) [MIM:120430]: An ocular defect that is due to malclosure of the fetal intraocular fissure affecting the optic nerve head. In some affected individuals, it appears as enlargement of the physiologic cup with severely affected eyes showing huge cavities at the site of the disk. Note=The disease is caused by mutations affecting the gene represented in this entry.Bilateral optic nerve hypoplasia (BONH) [MIM:165550]: A congenital anomaly in which the optic disk appears abnormally small. It may be an isolated finding or part of a spectrum of anatomic and functional abnormalities that includes partial or complete agenesis of the septum pellucidum, other midline brain defects, cerebral anomalies, pituitary dysfunction, and structural abnormalities of the pituitary. {ECO:0000269PubMed:12721955}. Note=The disease is caused by mutations affecting the gene represented in this entry.Aniridia, cerebellar ataxia and mental deficiency (ACAMD) [MIM:206700]: A rare condition consisting of partial rudimentary iris, cerebellar impairment of the ability to perform coordinated voluntary movements, and mental retardation. {ECO:0000269PubMed:17595013}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Fetal eye, brain, spinal cord and olfactory epithelium. Isoform 5a is less abundant than the PAX6 shorter form.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 47 experimentally validated interaction(s) in this database.
They are also associated with 13 interaction(s) predicted by orthology.

Experimentally validated
Total	47 [view]
Protein-Protein	44 [view]
Protein-DNA	2 [view]
Protein-RNA	0
DNA-DNA	1 [view]
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	13 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0000979	RNA polymerase II core promoter sequence-specific DNA binding
GO:0000981	sequence-specific DNA binding RNA polymerase II transcription factor activity
GO:0003677	DNA binding
GO:0003700	sequence-specific DNA binding transcription factor activity
GO:0004842	ubiquitin-protein transferase activity
GO:0005515	protein binding
GO:0008134	transcription factor binding
GO:0019901	protein kinase binding
GO:0035035	histone acetyltransferase binding
GO:0070412	R-SMAD binding

Biological Process

GO:0001568	blood vessel development
GO:0001654	eye development
GO:0003322	pancreatic A cell development
GO:0006351	transcription, DNA-templated
GO:0006355	regulation of transcription, DNA-templated
GO:0006366	transcription from RNA polymerase II promoter
GO:0007275	multicellular organismal development
GO:0007417	central nervous system development
GO:0007601	visual perception
GO:0009611	response to wounding
GO:0009887	organ morphogenesis
GO:0010628	positive regulation of gene expression
GO:0016567	protein ubiquitination
GO:0042593	glucose homeostasis
GO:0045893	positive regulation of transcription, DNA-templated
GO:0045944	positive regulation of transcription from RNA polymerase II promoter
GO:0048663	neuron fate commitment
GO:0050768	negative regulation of neurogenesis
GO:0061072	iris morphogenesis
GO:0061303	cornea development in camera-type eye