Hmdb loader
Identification
HMDB Protein ID HMDBP13574
Secondary Accession Numbers None
Name Paired box protein Pax-6
Synonyms
  1. Oculorhombin
Gene Name PAX6
Protein Type Unknown
Biological Properties
General Function Not Available
Specific 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 (PubMed:9163426). 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). Acts as a transcriptional repressor of NFATC1-mediated gene expression (PubMed:23990468).
Pathways
  • Maturity onset diabetes of the young
  • Signaling pathways regulating pluripotency of stem cells
Reactions Not Available
GO Classification
Biological Process
cellular response to leukemia inhibitory factor
regulation of neuron projection development
negative regulation of neural precursor cell proliferation
neural crest cell migration
gene expression
keratinocyte differentiation
epithelial cell development
positive regulation of cell death
signal transduction involved in regulation of gene expression
eye photoreceptor cell development
olfactory bulb mitral cell layer development
negative regulation of epithelial cell proliferation
positive regulation of neuroblast proliferation
retina development in camera-type eye
neuron migration
anatomical structure development
cerebral cortex regionalization
cornea development in camera-type eye
dorsal/ventral axis specification
forebrain dorsal/ventral pattern formation
forebrain-midbrain boundary formation
camera-type eye development
habenula development
insulin metabolic process
interkinetic nuclear migration
iris morphogenesis
lacrimal gland development
learned vocalization behavior or vocal learning
lens development in camera-type eye
neural precursor cell proliferation
oligodendrocyte cell fate specification
pallium development
pancreatic A cell development
pancreatic A cell differentiation
positive regulation of cell fate specification
positive regulation of core promoter binding
positive regulation of epithelial cell differentiation
positive regulation of glucagon secretion
positive regulation of glutamatergic neuron differentiation
positive regulation of neuron migration
protein localization to organelle
regionalization
regulation of asymmetric cell division
regulation of neurogenesis
regulation of timing of cell differentiation
rhombomere morphogenesis
salivary gland morphogenesis
sensory neuron migration
telencephalon regionalization
type B pancreatic cell differentiation
ventral spinal cord development
cell fate determination
regulation of transcription from RNA polymerase II promoter
negative regulation of protein phosphorylation
commitment of neuronal cell to specific neuron type in forebrain
regulation of cell migration
glucose homeostasis
positive regulation of transcription, DNA-dependent
axon guidance
smoothened signaling pathway
negative regulation of transcription from RNA polymerase II promoter
astrocyte differentiation
brain development
olfactory bulb development
positive regulation of transcription from RNA polymerase II promoter
cell differentiation
cell fate commitment
establishment of mitotic spindle orientation
regulation of neuron differentiation
anterior/posterior pattern specification
blood vessel development
hindbrain development
negative regulation of cell proliferation
regulation of gene expression
pituitary gland development
positive regulation of gene expression
regulation of transcription, DNA-dependent
dorsal/ventral pattern formation
forebrain development
negative regulation of neuron differentiation
axonogenesis
embryonic camera-type eye morphogenesis
Cellular Component
cytosol
cytoplasm
nucleus
nucleoplasm
chromatin
transcription factor complex
Molecular Function
protein kinase binding
DNA-binding transcription repressor activity, RNA polymerase II-specific
sequence-specific DNA binding
sequence-specific DNA binding transcription factor activity
co-SMAD binding
histone acetyltransferase binding
HMG box domain binding
R-SMAD binding
RNA polymerase II core promoter sequence-specific DNA binding
DNA-binding transcription activator activity, RNA polymerase II-specific
ubiquitin protein ligase binding
transcription factor binding
double-stranded DNA binding
RNA binding
chromatin binding
DNA-binding transcription factor activity, RNA polymerase II-specific
RNA polymerase II core promoter proximal region sequence-specific DNA binding
sequence-specific double-stranded DNA binding
transcription regulatory region sequence-specific DNA binding
DNA binding
AT DNA binding
Cellular Location Not Available
Gene Properties
Chromosome Location Not Available
Locus Not Available
SNPs Not Available
Gene Sequence Not Available
Protein Properties
Number of Residues 422
Molecular Weight 46683.075
Theoretical pI 9.364
Pfam Domain Function
Signals Not Available
Transmembrane Regions Not Available
Protein Sequence Not Available
GenBank ID Protein Not Available
UniProtKB/Swiss-Prot ID P63015
UniProtKB/Swiss-Prot Entry Name PAX6_MOUSE
PDB IDs Not Available
GenBank Gene ID Not Available
GeneCard ID Not Available
GenAtlas ID Not Available
HGNC ID Not Available
References
General References
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  3. Walther C, Gruss P: Pax-6, a murine paired box gene, is expressed in the developing CNS. Development. 1991 Dec;113(4):1435-49. [PubMed:1687460 ]
  4. Favor J, Peters H, Hermann T, Schmahl W, Chatterjee B, Neuhauser-Klaus A, Sandulache R: Molecular characterization of Pax6(2Neu) through Pax6(10Neu): an extension of the Pax6 allelic series and the identification of two possible hypomorph alleles in the mouse Mus musculus. Genetics. 2001 Dec;159(4):1689-700. doi: 10.1093/genetics/159.4.1689. [PubMed:11779807 ]
  5. Walther C, Guenet JL, Simon D, Deutsch U, Jostes B, Goulding MD, Plachov D, Balling R, Gruss P: Pax: a murine multigene family of paired box-containing genes. Genomics. 1991 Oct;11(2):424-34. doi: 10.1016/0888-7543(91)90151-4. [PubMed:1685142 ]
  6. Hill RE, Favor J, Hogan BL, Ton CC, Saunders GF, Hanson IM, Prosser J, Jordan T, Hastie ND, van Heyningen V: Mouse small eye results from mutations in a paired-like homeobox-containing gene. Nature. 1991 Dec 19-26;354(6354):522-5. doi: 10.1038/354522a0. [PubMed:1684639 ]
  7. St-Onge L, Sosa-Pineda B, Chowdhury K, Mansouri A, Gruss P: Pax6 is required for differentiation of glucagon-producing alpha-cells in mouse pancreas. Nature. 1997 May 22;387(6631):406-9. doi: 10.1038/387406a0. [PubMed:9163426 ]
  8. Gosmain Y, Avril I, Mamin A, Philippe J: Pax-6 and c-Maf functionally interact with the alpha-cell-specific DNA element G1 in vivo to promote glucagon gene expression. J Biol Chem. 2007 Nov 30;282(48):35024-34. doi: 10.1074/jbc.M702795200. Epub 2007 Sep 27. [PubMed:17901057 ]
  9. Tuoc TC, Stoykova A: Trim11 modulates the function of neurogenic transcription factor Pax6 through ubiquitin-proteosome system. Genes Dev. 2008 Jul 15;22(14):1972-86. doi: 10.1101/gad.471708. [PubMed:18628401 ]
  10. Yan Q, Gong L, Deng M, Zhang L, Sun S, Liu J, Ma H, Yuan D, Chen PC, Hu X, Liu J, Qin J, Xiao L, Huang XQ, Zhang J, Li DW: Sumoylation activates the transcriptional activity of Pax-6, an important transcription factor for eye and brain development. Proc Natl Acad Sci U S A. 2010 Dec 7;107(49):21034-9. doi: 10.1073/pnas.1007866107. Epub 2010 Nov 17. [PubMed:21084637 ]
  11. Kogawa M, Hisatake K, Atkins GJ, Findlay DM, Enoki Y, Sato T, Gray PC, Kanesaki-Yatsuka Y, Anderson PH, Wada S, Kato N, Fukuda A, Katayama S, Tsujimoto M, Yoda T, Suda T, Okazaki Y, Matsumoto M: The paired-box homeodomain transcription factor Pax6 binds to the upstream region of the TRAP gene promoter and suppresses receptor activator of NF-kappaB ligand (RANKL)-induced osteoclast differentiation. J Biol Chem. 2013 Oct 25;288(43):31299-312. doi: 10.1074/jbc.M113.461848. Epub 2013 Aug 29. [PubMed:23990468 ]