PAX6 - Paired box protein Pax-6 - human protein (Function)
 
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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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1 190 2
GENE REF ISO

Function

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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).  
  • CuratedUniProtKB
Isoform  5a   Appears to function as a molecular switch that specifies target genes.  
  • CuratedUniProtKB
GO molecular function 
AT DNA bindingdefinition[GO:0003680] silver  
  • IEAOrtholog Compara
Co-SMAD bindingdefinition[GO:0070410] silver  
  • IEAOrtholog Compara
DNA bindingdefinition[GO:0003677]  
1
  • TASPINC
Double-stranded DNA bindingdefinition[GO:0003690] silver  
  • IEAOrtholog Compara
Histone acetyltransferase bindingdefinition[GO:0035035]  
  • ISSOrtholog Curator
HMG box domain bindingdefinition[GO:0071837] silver  
  • IEAOrtholog Compara
Protein bindingdefinition[GO:0005515]  
1
  • IPIIntAct
Protein kinase bindingdefinition[GO:0019901]  
  • ISSOrtholog Curator
R-SMAD bindingdefinition[GO:0070412]  
1
  • IPIBHF-UCL
RNA polymerase II core promoter sequence-specific DNA bindingdefinition[GO:0000979]  
1
  • IDABHF-UCL
Sequence-specific DNA binding RNA polymerase II transcription factor activitydefinition[GO:0000981]  
1
  • IDABHF-UCL
Sequence-specific DNA binding transcription factor activitydefinition[GO:0003700]  
2
  • TASPINC
Transcription factor bindingdefinition[GO:0008134]  
  • ISSOrtholog Curator
Ubiquitin protein ligase bindingdefinition[GO:0031625] silver  
  • IEAOrtholog Compara
Ubiquitin-protein ligase activitydefinition[GO:0004842]  
  • ISSOrtholog Curator
GO biological process 
Astrocyte differentiationdefinition[GO:0048708] silver  
  • IEAOrtholog Compara
Axon guidancedefinition[GO:0007411] silver  
  • IEAOrtholog Compara
Blood vessel developmentdefinition[GO:0001568]  
1
  • IMPDFLAT
Cell fate determinationdefinition[GO:0001709] silver  
  • IEAOrtholog Compara
Central nervous system developmentdefinition[GO:0007417]  
1
  • TASPINC
Cerebral cortex regionalizationdefinition[GO:0021796] silver  
  • IEAOrtholog Compara
Commitment of neuronal cell to specific neuron type in forebraindefinition[GO:0021902] silver  
  • IEAOrtholog Compara
Cornea development in camera-type eyedefinition[GO:0061303]  
1
  • IMPDFLAT
Dorsal/ventral axis specificationdefinition[GO:0009950] silver  
  • IEAOrtholog Compara
Embryonic camera-type eye morphogenesisdefinition[GO:0048596] silver  
  • IEAOrtholog Compara
Eye developmentdefinition[GO:0001654]  
1
  • TASPINC
Eye photoreceptor cell developmentdefinition[GO:0042462] silver  
  • IEAOrtholog Compara
Forebrain anterior/posterior pattern specificationdefinition[GO:0021797] silver  
  • IEAOrtholog Compara
Forebrain dorsal/ventral pattern formationdefinition[GO:0021798] silver  
  • IEAOrtholog Compara
Forebrain-midbrain boundary formationdefinition[GO:0021905] silver  
  • IEAOrtholog Compara
Glucose homeostasisdefinition[GO:0042593]  
1
  • IMPDFLAT
Hindbrain developmentdefinition[GO:0030902] silver  
  • IEAOrtholog Compara
Iris morphogenesisdefinition[GO:0061072]  
1
  • IMPDFLAT
Keratinocyte differentiationdefinition[GO:0030216] silver  
  • IEAOrtholog Compara
Lacrimal gland developmentdefinition[GO:0032808] silver  
  • IEAOrtholog Compara
Lens development in camera-type eyedefinition[GO:0002088] silver  
  • IEAOrtholog Compara
Negative regulation of epithelial cell proliferationdefinition[GO:0050680] silver  
  • IEAOrtholog Compara
Negative regulation of neurogenesisdefinition[GO:0050768]  
  • ISSOrtholog Curator
Negative regulation of neuron differentiationdefinition[GO:0045665] silver  
  • IEAOrtholog Compara
Neuron fate commitmentdefinition[GO:0048663]  
1
  • NASUniProtKB
Neuron migrationdefinition[GO:0001764] silver  
  • IEAOrtholog Compara
Oligodendrocyte cell fate specificationdefinition[GO:0021778] silver  
  • IEAOrtholog Compara
Organ morphogenesisdefinition[GO:0009887]  
1
  • TASPINC
Pancreatic A cell developmentdefinition[GO:0003322]  
1
  • IMPBHF-UCL
Pituitary gland developmentdefinition[GO:0021983] silver  
  • IEAOrtholog Compara
Positive regulation of cell fate specificationdefinition[GO:0042660] silver  
  • IEAOrtholog Compara
Positive regulation of epithelial cell differentiationdefinition[GO:0030858] silver  
  • IEAOrtholog Compara
Positive regulation of gene expressiondefinition[GO:0010628]  
1
  • IMPBHF-UCL
Positive regulation of neuroblast proliferationdefinition[GO:0002052] silver  
  • IEAOrtholog Compara
Positive regulation of transcription from RNA polymerase II promoterdefinition[GO:0045944]  
  • ISSOrtholog Curator
Positive regulation of transcription, DNA-templateddefinition[GO:0045893]  
1
  • IMPBHF-UCL
Protein localization to organelledefinition[GO:0033365] silver  
  • IEAOrtholog Compara
Protein ubiquitinationdefinition[GO:0016567]  
  • ISSOrtholog Curator
Regulation of cell migrationdefinition[GO:0030334] silver  
  • IEAOrtholog Compara
Regulation of timing of cell differentiationdefinition[GO:0048505] silver  
  • IEAOrtholog Compara
Regulation of transcription from RNA polymerase II promoter involved in somatic motor neuron fate commitmentdefinition[GO:0021918] silver  
  • IEAOrtholog Compara
Regulation of transcription from RNA polymerase II promoter involved in spinal cord motor neuron fate specificationdefinition[GO:0021912] silver  
  • IEAOrtholog Compara
Regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specificationdefinition[GO:0021913] silver  
  • IEAOrtholog Compara
Response to woundingdefinition[GO:0009611]  
1
  • IEPUniProtKB
Salivary gland morphogenesisdefinition[GO:0007435] silver  
  • IEAOrtholog Compara
Signal transduction involved in regulation of gene expressiondefinition[GO:0023019] silver  
  • IEAOrtholog Compara
Smoothened signaling pathwaydefinition[GO:0007224] silver  
  • IEAOrtholog Compara
Transcription from RNA polymerase II promoterdefinition[GO:0006366]  
1
  • IMPBHF-UCL
Type B pancreatic cell differentiationdefinition[GO:0003309] silver  
  • IEAOrtholog Compara
Visual perceptiondefinition[GO:0007601]  
1
  • TASPINC
Pathways 
According to KEGG, this protein belongs to the following pathway:
Maturity onset diabetes of the young  hsa04950+5080  
 

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