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Protein Page:
PAX6 (human)

Overview
PAX6 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. 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. Isoform 5a appears to function as a molecular switch that specifies target genes. Defects in PAX6 are the cause of aniridia (AN). 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. Defects in PAX6 are a cause of Peters anomaly (PAN). 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. Defects in PAX6 are a cause of foveal hypoplasia (FOVHYP). Foveal hypoplasia can be isolated or associated with presenile cataract. Inheritance is autosomal dominant. Defects in PAX6 are a cause of keratitis hereditary (KERH). An ocular disorder characterized by corneal opacification, recurrent stromal keratitis and vascularization. Defects in PAX6 are a cause of coloboma of iris choroid and retina (COI); 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. Defects in PAX6 are a cause of coloboma of optic nerve (COLON). Defects in PAX6 are a cause of bilateral optic nerve hypoplasia (BONH); 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. Defects in PAX6 are a cause of aniridia cerebellar ataxia and mental deficiency (ACAMD); 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. Belongs to the paired homeobox family. 3 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Protein type: Transcription factor; Motility/polarity/chemotaxis; DNA-binding
Chromosomal Location of Human Ortholog: 11p13
Cellular Component: cytoplasm; nuclear chromatin; nucleoplasm; nucleus
Molecular Function: DNA binding; histone acetyltransferase binding; protein binding; protein kinase binding; transcription factor activity; transcription factor binding; ubiquitin-protein ligase activity
Biological Process: blood vessel development; central nervous system development; eye development; glucose homeostasis; negative regulation of neurogenesis; organ morphogenesis; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; response to wounding; transcription from RNA polymerase II promoter; visual perception
Disease: Aniridia; Aniridia, Cerebellar Ataxia, And Mental Retardation; Coloboma Of Optic Nerve; Foveal Hypoplasia 1; Keratitis, Hereditary; Optic Nerve Hypoplasia, Bilateral; Peters Anomaly; Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Reference #:  P26367 (UniProtKB)
Alt. Names/Synonyms: AN; AN2; Aniridia type II protein; D11S812E; MGC17209; MGDA; Oculorhombin; paired box 6; paired box homeotic gene-6; Paired box protein Pax-6; PAX6; WAGR
Gene Symbols: PAX6
Molecular weight: 46,683 Da
Basal Isoelectric point: 9.45  Predict pI for various phosphorylation states
CST Pathways:  Growth And Differentiation Control by MAPKs  |  Regulation of P38 MAPKs
Select Structure to View Below

PAX6

Protein Structure Not Found.
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Modification Sites and Domains  

Modification Sites in Parent Protein, Orthologs, and Isoforms  
 

Show Multiple Sequence Alignment



 LTP 

LTP: The number of records in which this modification site was determined using site-specific methods. SS methods include amino acid sequencing, site-directed mutagenesis, modification site-specific antibodies, specific MS strategies, etc.


 HTP 

HTP: The number of records in which this modification site was assigned using ONLY proteomic discovery-mode mass spectrometry.


       human

► Hide Isoforms
 
0 1 S54 QVSNGCVSKILGRYY
0 1 S108 EIRDRLLSEGVCTND
0 1 T113 LLSEGVCTNDNIPSV
0 1 S216‑p KLQRNRTsFTQEQIE
1 0 T281 QRRQASNTPSHIPIS
1 1 T304 QPIPQPTTPVSSFTS
0 1 S307 PQPTTPVSSFTSGSM
1 1 T373‑p GRSYDTYtPPHMQTH
  PAX6 iso2  
S68‑p NVSNGCVsKILGRYY
S122 EIRDRLLSEGVCTND
T127 LLSEGVCTNDNIPSV
S230 KLQRNRTSFTQEQIE
T295 QRRQASNTPSHIPIS
T318 QPIPQPTTPVSSFTS
S321 PQPTTPVSSFTSGSM
T387 GRSYDTYTPPHMQTH
  mouse

 
S54 QVSNGCVSKILGRYY
S108‑p EIRDRLLsEGVCtND
T113‑p LLsEGVCtNDNIPSV
S216 KLQRNRTSFTQEQIE
T281‑p QRRQASNtPSHIPIS
T304‑p QPIPQPTtPVsSFTS
S307‑p PQPTtPVsSFTSGSM
T373‑p GRSYDTYtPPHMQTH
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