InnateDB: Systems Biology of the Innate Immune Response

Mus musculus Protein: Pax6

Summary

InnateDB Protein

IDBP-258866.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

Pax6

Protein Name

paired box gene 6

Synonyms

1500038E17Rik; AEY11; Dey; Gsfaey11; Pax-6; Sey;

Species

Mus musculus

Ensembl Protein

ENSMUSP00000106712

InnateDB Gene

IDBG-194974 (Pax6)

Protein Structure

UniProt Annotation

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. 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). {ECO:0000250}.

Subcellular Localization

Nucleus.

Disease Associations

Note=Defects in Pax6 are the cause of a condition known as small eye (Sey) which results in the complete lack of eyes and nasal primordia.

Tissue Specificity

Isoform 1 and isoform 3 are the major isoforms among different eye tissues. Isoform 1 and isoform 3 are expressed in the retina and cornea. In the lens epithelium, isoform 1 is relatively abundant, but isoform 3 is barely detectable. {ECO:0000269PubMed:21084637}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 24 experimentally validated interaction(s) in this database.
They are also associated with 31 interaction(s) predicted by orthology.

Experimentally validated
Total	24 [view]
Protein-Protein	21 [view]
Protein-DNA	2 [view]
Protein-RNA	1 [view]
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	31 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0000978	RNA polymerase II core promoter proximal region sequence-specific DNA binding
GO:0000979	RNA polymerase II core promoter sequence-specific DNA binding
GO:0000981	sequence-specific DNA binding RNA polymerase II transcription factor activity
GO:0001077	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
GO:0003677	DNA binding
GO:0003680	AT DNA binding
GO:0003682	chromatin binding
GO:0003690	double-stranded DNA binding
GO:0003700	sequence-specific DNA binding transcription factor activity
GO:0005515	protein binding
GO:0008134	transcription factor binding
GO:0019901	protein kinase binding
GO:0031625	ubiquitin protein ligase binding
GO:0035035	histone acetyltransferase binding
GO:0043565	sequence-specific DNA binding
GO:0044212	transcription regulatory region DNA binding
GO:0070410	co-SMAD binding
GO:0070412	R-SMAD binding
GO:0071837	HMG box domain binding

Biological Process

GO:0001568	blood vessel development
GO:0001709	cell fate determination
GO:0001764	neuron migration
GO:0002052	positive regulation of neuroblast proliferation
GO:0002088	lens development in camera-type eye
GO:0003309	type B pancreatic cell differentiation
GO:0003322	pancreatic A cell development
GO:0006355	regulation of transcription, DNA-templated
GO:0006357	regulation of transcription from RNA polymerase II promoter
GO:0006366	transcription from RNA polymerase II promoter
GO:0007224	smoothened signaling pathway
GO:0007409	axonogenesis
GO:0007411	axon guidance
GO:0007420	brain development
GO:0007435	salivary gland morphogenesis
GO:0008285	negative regulation of cell proliferation
GO:0009611	response to wounding
GO:0009950	dorsal/ventral axis specification
GO:0009952	anterior/posterior pattern specification
GO:0009953	dorsal/ventral pattern formation
GO:0010468	regulation of gene expression
GO:0010628	positive regulation of gene expression
GO:0021543	pallium development
GO:0021778	oligodendrocyte cell fate specification
GO:0021796	cerebral cortex regionalization
GO:0021797	forebrain anterior/posterior pattern specification
GO:0021798	forebrain dorsal/ventral pattern formation
GO:0021902	commitment of neuronal cell to specific neuron type in forebrain
GO:0021905	forebrain-midbrain boundary formation
GO:0021912	regulation of transcription from RNA polymerase II promoter involved in spinal cord motor neuron fate specification
GO:0021913	regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification
GO:0021918	regulation of transcription from RNA polymerase II promoter involved in somatic motor neuron fate commitment
GO:0021978	telencephalon regionalization
GO:0021983	pituitary gland development
GO:0023019	signal transduction involved in regulation of gene expression
GO:0030154	cell differentiation
GO:0030216	keratinocyte differentiation
GO:0030334	regulation of cell migration
GO:0030858	positive regulation of epithelial cell differentiation
GO:0030900	forebrain development
GO:0030902	hindbrain development
GO:0032808	lacrimal gland development
GO:0033365	protein localization to organelle
GO:0042462	eye photoreceptor cell development
GO:0042593	glucose homeostasis
GO:0042660	positive regulation of cell fate specification
GO:0043010	camera-type eye development
GO:0045165	cell fate commitment
GO:0045665	negative regulation of neuron differentiation
GO:0045893	positive regulation of transcription, DNA-templated
GO:0045944	positive regulation of transcription from RNA polymerase II promoter
GO:0048505	regulation of timing of cell differentiation
GO:0048596	embryonic camera-type eye morphogenesis
GO:0048708	astrocyte differentiation
GO:0050680	negative regulation of epithelial cell proliferation
GO:0050767	regulation of neurogenesis
GO:0060041	retina development in camera-type eye
GO:0061072	iris morphogenesis
GO:0061303	cornea development in camera-type eye