PAX6 - Paired box protein Pax-6 - human protein (Function)
 
Home Recent activites arrow-down favorite My favorites arrow-down favorite My labels arrow-down Downloads
Protein
Gene
References

 
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
extend overview
1 221 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 
DNA bindingdefinition[GO:0003677]  
1
  • PINC
Histone acetyltransferase bindingdefinition[GO:0035035]  
1
  • Ortholog Curator
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 sequence-specific DNA bindingdefinition[GO:0000979]  
1
  • BHF-UCL
RNA polymerase II transcription factor activity, sequence-specific DNA bindingdefinition[GO:0000981]  
1
  • BHF-UCL
Transcription factor activity, sequence-specific DNA bindingdefinition[GO:0003700]  
2
  • PINC
Transcription factor bindingdefinition[GO:0008134]  
1
  • Ortholog Curator
Ubiquitin-protein transferase activitydefinition[GO:0004842]  
1
  • Ortholog Curator
GO biological process 
Blood vessel developmentdefinition[GO:0001568]  
1
  • DFLAT
Central nervous system developmentdefinition[GO:0007417]  
1
  • PINC
Cornea development in camera-type eyedefinition[GO:0061303]  
1
  • DFLAT
Eye developmentdefinition[GO:0001654]  
1
  • PINC
Glucose homeostasisdefinition[GO:0042593]  
1
  • DFLAT
Iris morphogenesisdefinition[GO:0061072]  
1
  • DFLAT
Negative regulation of neurogenesisdefinition[GO:0050768]  
1
  • Ortholog Curator
Neuron fate commitmentdefinition[GO:0048663]  
1
  • UniProtKB
Organ morphogenesisdefinition[GO:0009887]  
1
  • PINC
Pancreatic A cell developmentdefinition[GO:0003322]  
1
  • BHF-UCL
Positive regulation of gene expressiondefinition[GO:0010628]  
1
  • BHF-UCL
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 ubiquitinationdefinition[GO:0016567]  
1
  • Ortholog Curator
Response to woundingdefinition[GO:0009611]  
1
  • UniProtKB
Transcription from RNA polymerase II promoterdefinition[GO:0006366]  
1
  • BHF-UCL
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  R-HSA-210745  
Synthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1)  R-HSA-381771  
Synthesis, secretion, and inactivation of Glucose-dependent Insulinotropic Polypeptide (GIP)  R-HSA-400511  
 

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