PAX6 - Paired box protein Pax-6 - human protein (Function)
 
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Gene
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PAX6 »  Paired box protein Pax-6
 
Protein also known as:  Aniridia type II protein.
Gene name:  PAX6
Family name: Paired homeobox
Entry whose protein(s) existence is based on evidence at protein level
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1 205 2
GENE REF ISO

Function

 show evidences
Overview 
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).  
  • UniProtKB
Isoform  5a   Appears to function as a molecular switch that specifies target genes.  
1
  • UniProtKB
GO molecular function 
AT DNA bindingdefinition[GO:0003680] silver  
1
  • Ortholog Compara
Chromatin bindingdefinition[GO:0003682] silver  
1
  • Ortholog Compara
Co-SMAD bindingdefinition[GO:0070410] silver  
1
  • Ortholog Compara
DNA bindingdefinition[GO:0003677]  
1
  • PINC
Double-stranded DNA bindingdefinition[GO:0003690] silver  
1
  • Ortholog Compara
Histone acetyltransferase bindingdefinition[GO:0035035]  
1
  • Ortholog Curator
HMG box domain bindingdefinition[GO:0071837] silver  
1
  • Ortholog Compara
Protein bindingdefinition[GO:0005515]  
1
  • IntAct
Protein kinase bindingdefinition[GO:0019901]  
1
  • Ortholog Curator
R-SMAD bindingdefinition[GO:0070412]  
1
  • BHF-UCL
RNA polymerase II core promoter proximal region sequence-specific DNA bindingdefinition[GO:0000978] silver  
1
  • Ortholog Compara
RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcriptiondefinition[GO:0001077] silver  
1
  • Ortholog Compara
RNA polymerase II core promoter sequence-specific DNA bindingdefinition[GO:0000979]  
1
  • BHF-UCL
RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcriptiondefinition[GO:0001227] silver  
1
  • Ortholog Compara
Sequence-specific DNA binding RNA polymerase II transcription factor activitydefinition[GO:0000981]  
1
  • BHF-UCL
Sequence-specific DNA binding transcription factor activitydefinition[GO:0003700]  
2
  • PINC
Transcription factor bindingdefinition[GO:0008134]  
1
  • Ortholog Curator
Ubiquitin protein ligase bindingdefinition[GO:0031625] silver  
1
  • Ortholog Compara
Ubiquitin-protein transferase activitydefinition[GO:0004842]  
1
  • Ortholog Curator
GO biological process 
Astrocyte differentiationdefinition[GO:0048708] silver  
1
  • Ortholog Compara
Axon guidancedefinition[GO:0007411] silver  
1
  • Ortholog Compara
Blood vessel developmentdefinition[GO:0001568]  
1
  • DFLAT
Cell fate determinationdefinition[GO:0001709] silver  
1
  • Ortholog Compara
Cellular response to drugdefinition[GO:0035690] silver  
1
  • Ortholog Compara
Cellular response to fibroblast growth factor stimulusdefinition[GO:0044344] silver  
1
  • Ortholog Compara
Cellular response to glucose stimulusdefinition[GO:0071333] silver  
1
  • Ortholog Compara
Cellular response to insulin stimulusdefinition[GO:0032869] silver  
1
  • Ortholog Compara
Cellular response to prostaglandin E stimulusdefinition[GO:0071380] silver  
1
  • Ortholog Compara
Central nervous system developmentdefinition[GO:0007417]  
1
  • PINC
Cerebellum developmentdefinition[GO:0021549] silver  
1
  • Ortholog Compara
Cerebral cortex regionalizationdefinition[GO:0021796] silver  
1
  • Ortholog Compara
Commitment of neuronal cell to specific neuron type in forebraindefinition[GO:0021902] silver  
1
  • Ortholog Compara
Cornea development in camera-type eyedefinition[GO:0061303]  
1
  • DFLAT
Dorsal/ventral axis specificationdefinition[GO:0009950] silver  
1
  • Ortholog Compara
Embryonic camera-type eye morphogenesisdefinition[GO:0048596] silver  
1
  • Ortholog Compara
Establishment of mitotic spindle orientationdefinition[GO:0000132] silver  
1
  • Ortholog Compara
Eye developmentdefinition[GO:0001654]  
1
  • PINC
Eye photoreceptor cell developmentdefinition[GO:0042462] silver  
1
  • Ortholog Compara
Forebrain anterior/posterior pattern specificationdefinition[GO:0021797] silver  
1
  • Ortholog Compara
Forebrain dorsal/ventral pattern formationdefinition[GO:0021798] silver  
1
  • Ortholog Compara
Forebrain-midbrain boundary formationdefinition[GO:0021905] silver  
1
  • Ortholog Compara
Glucose homeostasisdefinition[GO:0042593]  
1
  • DFLAT
Insulin metabolic processdefinition[GO:1901142] silver  
1
  • Ortholog Compara
Interkinetic nuclear migrationdefinition[GO:0022027] silver  
1
  • Ortholog Compara
Iris morphogenesisdefinition[GO:0061072]  
1
  • DFLAT
Keratinocyte differentiationdefinition[GO:0030216] silver  
1
  • Ortholog Compara
Lacrimal gland developmentdefinition[GO:0032808] silver  
1
  • Ortholog Compara
Lens development in camera-type eyedefinition[GO:0002088] silver  
1
  • Ortholog Compara
Negative regulation of epithelial cell proliferationdefinition[GO:0050680] silver  
1
  • Ortholog Compara
Negative regulation of neural precursor cell proliferationdefinition[GO:2000178] silver  
1
  • Ortholog Compara
Negative regulation of neurogenesisdefinition[GO:0050768]  
1
  • Ortholog Curator
Negative regulation of neuron differentiationdefinition[GO:0045665] silver  
1
  • Ortholog Compara
Negative regulation of protein phosphorylationdefinition[GO:0001933] silver  
1
  • Ortholog Compara
Negative regulation of transcription from RNA polymerase II promoterdefinition[GO:0000122] silver  
1
  • Ortholog Compara
Neural crest cell migrationdefinition[GO:0001755] silver  
1
  • Ortholog Compara
Neuron fate commitmentdefinition[GO:0048663]  
1
  • UniProtKB
Neuron migrationdefinition[GO:0001764] silver  
1
  • Ortholog Compara
Olfactory bulb developmentdefinition[GO:0021772] silver  
1
  • Ortholog Compara
Oligodendrocyte cell fate specificationdefinition[GO:0021778] silver  
1
  • Ortholog Compara
Organ morphogenesisdefinition[GO:0009887]  
1
  • PINC
Pancreatic A cell developmentdefinition[GO:0003322]  
1
  • BHF-UCL
Pituitary gland developmentdefinition[GO:0021983] silver  
1
  • Ortholog Compara
Positive regulation of cell fate specificationdefinition[GO:0042660] silver  
1
  • Ortholog Compara
Positive regulation of epithelial cell differentiationdefinition[GO:0030858] silver  
1
  • Ortholog Compara
Positive regulation of gene expressiondefinition[GO:0010628]  
1
  • BHF-UCL
Positive regulation of glucagon secretiondefinition[GO:0070094] silver  
1
  • Ortholog Compara
Positive regulation of neuroblast proliferationdefinition[GO:0002052] silver  
1
  • Ortholog Compara
Positive regulation of neuron migrationdefinition[GO:2001224] silver  
1
  • Ortholog Compara
Positive regulation of transcription from RNA polymerase II promoterdefinition[GO:0045944]  
1
  • Ortholog Curator
Positive regulation of transcription, DNA-templateddefinition[GO:0045893]  
1
  • BHF-UCL
Protein localization to organelledefinition[GO:0033365] silver  
1
  • Ortholog Compara
Protein ubiquitinationdefinition[GO:0016567]  
1
  • Ortholog Curator
Regulation of asymmetric cell divisiondefinition[GO:0009786] silver  
1
  • Ortholog Compara
Regulation of neuron projection developmentdefinition[GO:0010975] silver  
1
  • Ortholog Compara
Regulation of timing of cell differentiationdefinition[GO:0048505] silver  
1
  • Ortholog Compara
Regulation of transcription from RNA polymerase II promoter involved in somatic motor neuron fate commitmentdefinition[GO:0021918] silver  
1
  • Ortholog Compara
Regulation of transcription from RNA polymerase II promoter involved in spinal cord motor neuron fate specificationdefinition[GO:0021912] silver  
1
  • Ortholog Compara
Regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specificationdefinition[GO:0021913] silver  
1
  • Ortholog Compara
Response to ethanoldefinition[GO:0045471] silver  
1
  • Ortholog Compara
Response to woundingdefinition[GO:0009611]  
1
  • UniProtKB
Retina development in camera-type eyedefinition[GO:0060041] silver  
1
  • Ortholog Compara
Rhombomere morphogenesisdefinition[GO:0021593] silver  
1
  • Ortholog Compara
Salivary gland morphogenesisdefinition[GO:0007435] silver  
1
  • Ortholog Compara
Signal transduction involved in regulation of gene expressiondefinition[GO:0023019] silver  
1
  • Ortholog Compara
Smoothened signaling pathwaydefinition[GO:0007224] silver  
1
  • Ortholog Compara
Transcription from RNA polymerase II promoterdefinition[GO:0006366]  
1
  • BHF-UCL
Type B pancreatic cell differentiationdefinition[GO:0003309] silver  
1
  • Ortholog Compara
Visual perceptiondefinition[GO:0007601]  
1
  • PINC
Pathways 
According to KEGG, this protein belongs to the following pathway:
Maturity onset diabetes of the young  hsa04950+5080  
According to Reactome, this protein belongs to the following pathways:
Regulation of gene expression in beta cells  REACT_13819  
Synthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1)  REACT_24019  
Synthesis, secretion, and inactivation of Glucose-dependent Insulinotropic Polypeptide (GIP)  REACT_23824  
 

Keywords

Biological process 
Differentiation  definition   [KW-0221]
Transcription  definition   [KW-0804]
Transcription regulation  definition   [KW-0805]
Molecular function 
Developmental protein  definition   [KW-0217]
Repressor  definition   [KW-0678]
Technical term 
Reference proteome  definition   [KW-1185]
 

Further external links

GeneWiki: PAX6
GenomeRNAi: 5080
PRO: PR:P26367