Mouse Gene Pax6 (ENSMUST00000111086.10) from GENCODE VM23 Comprehensive Transcript Set (only Basic displayed by default)
  Description: Mus musculus paired box 6 (Pax6), transcript variant 1, mRNA. (from RefSeq NM_001244198)
RefSeq Summary (NM_001244198): This gene encodes a homeobox-containing protein that functions as a regulator of transcription. It plays a key role in the development of neural tissues, particularly the eye. Activity of this protein is also required for expression of glucagon in the pancreas. This gene is regulated by multiple enhancers located up to tens or hundreds of kilobases upstream and downstream of the transcription start sites. Mutations in this gene or deletion of these regulatory elements results in severe defects in eye development. Alternative splicing and the use of alternative promoters results in multiple transcript variants, some of which encode proteins that lack the N-terminal paired domain. [provided by RefSeq, Jul 2015].
Gencode Transcript: ENSMUST00000111086.10
Gencode Gene: ENSMUSG00000027168.21
Transcript (Including UTRs)
   Position: mm10 chr2:105,668,900-105,697,364 Size: 28,465 Total Exon Count: 13 Strand: +
Coding Region
   Position: mm10 chr2:105,680,298-105,696,355 Size: 16,058 Coding Exon Count: 11 

Page IndexSequence and LinksUniProtKB CommentsCTDRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsPathwaysOther NamesModel Information
Methods
Data last updated at UCSC: 2019-09-20

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr2:105,668,900-105,697,364)mRNA (may differ from genome)Protein (436 aa)
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-  Comments and Description Text from UniProtKB
  ID: PAX6_MOUSE
DESCRIPTION: RecName: Full=Paired box protein Pax-6; AltName: Full=Oculorhombin;
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).
SUBUNIT: Interacts with MAF and MAFB. Interacts with TRIM11; this interaction leads to ubiquitination and proteasomal degradation, as well as inhibition of transactivation, possibly in part by preventing PAX6 binding to consensus DNA sequences.
SUBCELLULAR LOCATION: Nucleus.
DEVELOPMENTAL STAGE: Expressed in the developing eye, nose, brain and pancreas. At 9 dpc, expressed in the telencephalon, diencephalon, neural tube, optic vesicle and pancreas. Throughout development, expression continues in the dorsal and ventral pancreas. Expressed during cortical neurogenesis from 11 to 18 dpc. High levels in the early radial glial progenitors from 11 to 14 dpc and gradually decrease thereafter (at protein level). During corticogenesis, the protein level declines faster than that of the mRNA, due to proteasomal degradation. In newborn animals, becomes restricted to endocrine cells of the islets of Langerhans.
PTM: Ubiquitinated by TRIM11, leading to ubiquitination and proteasomal degradation.
DISEASE: 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.
SIMILARITY: Belongs to the paired homeobox family.
SIMILARITY: Contains 1 homeobox DNA-binding domain.
SIMILARITY: Contains 1 paired domain.
SEQUENCE CAUTION: Sequence=AAA40109.1; Type=Erroneous initiation;

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  mRNA Secondary Structure of 3' and 5' UTRs
  Press "+" in the title bar above to open this section.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR017970 - Homeobox_CS
IPR001356 - Homeodomain
IPR009057 - Homeodomain-like
IPR001523 - Paired_dom
IPR011991 - WHTH_trsnscrt_rep_DNA-bd

Pfam Domains:
PF00046 - Homeobox domain
PF00292 - 'Paired box' domain

SCOP Domains:
46689 - Homeodomain-like

ModBase Predicted Comparative 3D Structure on P63015
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
HumanRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
GenBankRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
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 RNA polymerase II transcription factor activity, sequence-specific DNA binding
GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding
GO:0001227 transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding
GO:0001228 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding
GO:0003677 DNA binding
GO:0003680 AT DNA binding
GO:0003682 chromatin binding
GO:0003690 double-stranded DNA binding
GO:0003700 transcription factor activity, sequence-specific DNA binding
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:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0000132 establishment of mitotic spindle orientation
GO:0001568 blood vessel development
GO:0001709 cell fate determination
GO:0001755 neural crest cell migration
GO:0001764 neuron migration
GO:0001933 negative regulation of protein phosphorylation
GO:0002052 positive regulation of neuroblast proliferation
GO:0002064 epithelial cell development
GO:0002088 lens development in camera-type eye
GO:0003002 regionalization
GO:0003309 type B pancreatic cell differentiation
GO:0003310 pancreatic A cell differentiation
GO:0003322 pancreatic A cell development
GO:0006351 transcription, DNA-templated
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:0007275 multicellular organism development
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:0009786 regulation of asymmetric cell division
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:0010942 positive regulation of cell death
GO:0010975 regulation of neuron projection development
GO:0021543 pallium development
GO:0021593 rhombomere morphogenesis
GO:0021772 olfactory bulb development
GO:0021778 oligodendrocyte cell fate specification
GO:0021796 cerebral cortex regionalization
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:0021986 habenula development
GO:0022027 interkinetic nuclear migration
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:0045664 regulation of neuron differentiation
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:0061034 olfactory bulb mitral cell layer development
GO:0061072 iris morphogenesis
GO:0061303 cornea development in camera-type eye
GO:0061351 neural precursor cell proliferation
GO:0070094 positive regulation of glucagon secretion
GO:0098598 learned vocalization behavior or vocal learning
GO:1901142 insulin metabolic process
GO:1904937 sensory neuron migration
GO:1990830 cellular response to leukemia inhibitory factor
GO:2000178 negative regulation of neural precursor cell proliferation
GO:2001224 positive regulation of neuron migration

Cellular Component:
GO:0000790 nuclear chromatin
GO:0005622 intracellular
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005667 transcription factor complex
GO:0005737 cytoplasm
GO:0005829 cytosol


-  Descriptions from all associated GenBank mRNAs
  AK028059 - Mus musculus adult male cerebellum cDNA, RIKEN full-length enriched library, clone:1500038E17 product:paired box gene 6, full insert sequence.
AK032616 - Mus musculus adult male olfactory brain cDNA, RIKEN full-length enriched library, clone:6430706M13 product:paired box gene 6, full insert sequence.
BC036957 - Mus musculus paired box gene 6, mRNA (cDNA clone MGC:46875 IMAGE:4504106), complete cds.
AF457141 - Mus musculus Pax6 paired-less isoform mRNA, complete cds.
AF457142 - Mus musculus Pax6 protein isoform mRNA, complete cds; alternatively spliced.
BC069912 - Mus musculus paired box gene 6, mRNA (cDNA clone IMAGE:6309201).
AY064175 - Mus musculus Pax6 paired-less isoform mRNA, complete cds.
X63963 - M.musculus pax-6 mRNA for paired box protein.
AK045805 - Mus musculus adult male corpora quadrigemina cDNA, RIKEN full-length enriched library, clone:B230311L02 product:paired box gene 6, full insert sequence.
BC011272 - Mus musculus paired box gene 6, mRNA (cDNA clone MGC:18454 IMAGE:4008490), complete cds.
AJ292077 - Mus musculus partial mRNA for paired box protein (Pax6 gene), clone PAX6-9Neu.
AJ307468 - Mus musculus mRNA for paired box protein (Pax-6 gene).
AF443223 - Mus musculus PAX6 mRNA, partial cds, alternatively spliced.
M77842 - Mus musculus oculorhombin (Sey) mRNA, complete cds.
AK139054 - Mus musculus 7 days neonate cerebellum cDNA, RIKEN full-length enriched library, clone:A730006J20 product:paired box gene 6, full insert sequence.
HW661303 - JP 2014522668-A/27: DOWNREGULATION OF miR-7 FOR PROMOTION OF BETA CELL DIFFERENTIATION AND INSULIN PRODUCTION.
JC277325 - Sequence 27 from Patent WO2013021389.
KX987998 - UNVERIFIED: Mus musculus strain AKR paired box 6-like mRNA, complete sequence.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
mmu04950 - Maturity onset diabetes of the young

+  Other Names for This Gene
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-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
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