Human Gene PAX6 (ENST00000379107.7) Description and Page Index
Description: 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. (from UniProt P26367) Gencode Transcript: ENST00000379107.7 Gencode Gene: ENSG00000007372.24 Transcript (Including UTRs) Position: hg38 chr11:31,789,194-31,810,305 Size: 21,112 Total Exon Count: 13 Strand: - Coding Region Position: hg38 chr11:31,789,934-31,806,411 Size: 16,478 Coding Exon Count: 11
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Comments and Description Text from UniProtKB
ID:PAX6_HUMAN DESCRIPTION: RecName: Full=Paired box protein Pax-6; AltName: Full=Aniridia type II protein; AltName: Full=Oculorhombin; 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. SUBUNIT: Interacts with MAF and MAFB (By similarity). Interacts with TRIM11; this interaction leads to ubiquitination and proteasomal degradation, as well as inhibition of transactivation, possibly in part by preventing PAX6 binding to consensus DNA sequences (By similarity). INTERACTION: P63168:Dynll1 (xeno); NbExp=3; IntAct=EBI-747278, EBI-349121; Q9NSC5:HOMER3; NbExp=3; IntAct=EBI-747278, EBI-748420; SUBCELLULAR LOCATION: Nucleus. TISSUE SPECIFICITY: Fetal eye, brain, spinal cord and olfactory epithelium. Isoform 5a is less abundant than the PAX6 shorter form. DEVELOPMENTAL STAGE: Expressed in the developing eye and brain. PTM: Ubiquitinated by TRIM11, leading to ubiquitination and proteasomal degradation (By similarity). DISEASE: Defects in PAX6 are the cause of 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. DISEASE: Defects in PAX6 are a cause of Peters anomaly (PAN) [MIM:604229]. Peters anomaly 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. DISEASE: Defects in PAX6 are a cause of foveal hypoplasia (FOVHYP) [MIM:136520]. Foveal hypoplasia can be isolated or associated with presenile cataract. Inheritance is autosomal dominant. DISEASE: Defects in PAX6 are a cause of keratitis hereditary (KERH) [MIM:148190]. An ocular disorder characterized by corneal opacification, recurrent stromal keratitis and vascularization. DISEASE: Defects in PAX6 are a cause of coloboma of iris choroid and retina (COI) [MIM:120200]; also known as uveoretinal coloboma. Ocular colobomas are a set of malformations resulting from abnormal morphogenesis of the optic cup and stalk, and the fusion of the fetal fissure (optic fissure). Severe colobomatous malformations may cause as much as 10% of the childhood blindness. 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. DISEASE: Defects in PAX6 are a cause of coloboma of optic nerve (COLON) [MIM:120430]. DISEASE: Defects in PAX6 are a cause of bilateral optic nerve hypoplasia (BONH) [MIM:165550]; also known as bilateral optic nerve aplasia. A congenital anomaly in which the optic disc 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. DISEASE: Defects in PAX6 are a cause of aniridia cerebellar ataxia and mental deficiency (ACAMD) [MIM:206700]; also known as Gillespie syndrome. A rare condition consisting of partial rudimentary iris, cerebellar impairment of the ability to perform coordinated voluntary movements, and mental retardation. SIMILARITY: Belongs to the paired homeobox family. SIMILARITY: Contains 1 homeobox DNA-binding domain. SIMILARITY: Contains 1 paired domain. WEB RESOURCE: Name=Human PAX6 allelic variant database web site; URL="http://pax6.hgu.mrc.ac.uk/"; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PAX6";
ModBase Predicted Comparative 3D Structure on P26367
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