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Pax6 paired box 6 [ Mus musculus (house mouse) ]

Gene ID: 18508, updated on 17-Dec-2024

Summary

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Official Symbol: Pax6provided by MGI
Official Full Name: paired box 6provided by MGI
Primary source: MGI:MGI:97490
See related: Ensembl:ENSMUSG00000027168 AllianceGenome:MGI:97490
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Dey; Sey; AEY11; Pax-6; Gsfaey11; 1500038E17Rik
Summary: 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]
Expression: Biased expression in cerebellum adult (RPKM 9.1), whole brain E14.5 (RPKM 7.7) and 6 other tissues See more
Orthologs: human all
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Genomic context

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See Pax6 in Genome Data Viewer

Location:: 2 E3; 2 55.31 cM

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	2	NC_000068.8 (105499241..105528755)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	2	NC_000068.7 (105668896..105698410)

Chromosome 2 - NC_000068.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Effects of miR-204-5p modulation on PAX6 regulation and corneal inflammation.
Title: Effects of miR-204-5p modulation on PAX6 regulation and corneal inflammation.
IGF2BP2 Maintains Retinal Pigment Epithelium Homeostasis by Stabilizing PAX6 and OTX2.
Title: IGF2BP2 Maintains Retinal Pigment Epithelium Homeostasis by Stabilizing PAX6 and OTX2.
Pax6 isoforms shape eye development: Insights from developmental stages and organoid models.
Title: Pax6 isoforms shape eye development: Insights from developmental stages and organoid models.
A positive feedback inhibition of isocitrate dehydrogenase 3beta on paired-box gene 6 promotes Alzheimer-like pathology.
Title: A positive feedback inhibition of isocitrate dehydrogenase 3β on paired-box gene 6 promotes Alzheimer-like pathology.
Characterization of neural damage and neuroinflammation in Pax6 small-eye mice.
Title: Characterization of neural damage and neuroinflammation in Pax6 small-eye mice.
Pax6 affects Ras-Raf-ERK1/2 in mouse aging brain.
Title: Pax6 affects Ras-Raf-ERK1/2 in mouse aging brain.
Long noncoding RNA MALAT1 inhibition attenuates sepsis-induced acute lung injury through modulating the miR-129-5p/PAX6/ZEB2 axis.
Title: Long noncoding RNA MALAT1 inhibition attenuates sepsis-induced acute lung injury through modulating the miR-129-5p/PAX6/ZEB2 axis.
Pregnenolone enhances the proliferation of mouse neural stem cells and promotes oligodendrogenesis, together with Sox10, and neurogenesis, along with Notch1 and Pax6.
Title: Pregnenolone enhances the proliferation of mouse neural stem cells and promotes oligodendrogenesis, together with Sox10, and neurogenesis, along with Notch1 and Pax6.
Co-expression and Interaction of Pax6 with Genes and Proteins of Immunological Surveillance in the Brain of Mice.
Title: Co-expression and Interaction of Pax6 with Genes and Proteins of Immunological Surveillance in the Brain of Mice.
Pax6 mutant cerebral organoids partially recapitulate phenotypes of Pax6 mutant mouse strains.
Title: Pax6 mutant cerebral organoids partially recapitulate phenotypes of Pax6 mutant mouse strains.

Submit: New GeneRIF Correction See all GeneRIFs (262)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Chemically and radiation induced (3) 1 citation
Chemically induced (ENU) (23) 1 citation
Chemically induced (other) (1) 1 citation
Endonuclease-mediated (14) 1 citation
Radiation induced (2) 1 citation
Spontaneous (2)
Targeted (13) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Pax6 (e-PCR), detects polymorphism
- UniSTS:530695

D12Bir2 (e-PCR), detects polymorphism
- UniSTS:141835

GDB:344354 (e-PCR)
- UniSTS:156688

NoName (e-PCR)
- UniSTS:548150

Pax6 (e-PCR), detects polymorphism
- UniSTS:234061

Pax6 (e-PCR), detects polymorphism
- UniSTS:238168

PMC186446P1 (e-PCR)
- UniSTS:271709

Pax6 (e-PCR), detects polymorphism
- UniSTS:265609

Pax6 (e-PCR), detects polymorphism
- UniSTS:265610

Pax6 (e-PCR), detects polymorphism
- UniSTS:466069

Pax6 (e-PCR), detects polymorphism
- UniSTS:466070

Pax6 (e-PCR), detects polymorphism
- UniSTS:534423

Pax6 (e-PCR), detects polymorphism
- UniSTS:502695

Pax6 (e-PCR), detects polymorphism
- UniSTS:527029

Pax6 (e-PCR), detects polymorphism
- UniSTS:516565

X63963 (e-PCR)
- UniSTS:163293

Pax6 (e-PCR), detects polymorphism
- UniSTS:546527

Pax6 (e-PCR), detects polymorphism
- UniSTS:546528

Pax6 (e-PCR), detects polymorphism
- UniSTS:546529

Pax6 (e-PCR), detects polymorphism
- UniSTS:546530

Pax6 (e-PCR), detects polymorphism
- UniSTS:507116

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription activator activity, RNA polymerase II-specific	ISO Inferred from Sequence Orthology more info
enables DNA-binding transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity	TAS Traceable Author Statement more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISO Inferred from Sequence Orthology more info
enables DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables HMG box domain binding	IPI Inferred from Physical Interaction more info	PubMed
enables R-SMAD binding	IDA Inferred from Direct Assay more info	PubMed
enables R-SMAD binding	ISO Inferred from Sequence Orthology more info
enables RNA binding	IDA Inferred from Direct Assay more info	PubMed
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	ISO Inferred from Sequence Orthology more info
enables RNA polymerase II core promoter sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables chromatin DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables chromatin binding	IDA Inferred from Direct Assay more info	PubMed
enables co-SMAD binding	IDA Inferred from Direct Assay more info	PubMed
enables double-stranded DNA binding	ISO Inferred from Sequence Orthology more info
enables histone acetyltransferase binding	IDA Inferred from Direct Assay more info	PubMed
enables minor groove of adenine-thymine-rich DNA binding	IEA Inferred from Electronic Annotation more info
enables minor groove of adenine-thymine-rich DNA binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase binding	IPI Inferred from Physical Interaction more info	PubMed
enables sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables sequence-specific DNA binding	ISO Inferred from Sequence Orthology more info
enables sequence-specific double-stranded DNA binding	ISO Inferred from Sequence Orthology more info
enables transcription cis-regulatory region binding	IDA Inferred from Direct Assay more info	PubMed
enables transcription coregulator binding	IPI Inferred from Physical Interaction more info	PubMed
enables ubiquitin protein ligase binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within anterior/posterior pattern specification	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within anterior/posterior pattern specification	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within astrocyte differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in astrocyte differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in astrocyte differentiation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within axon guidance	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within axonogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in blood vessel development	IEA Inferred from Electronic Annotation more info
involved_in blood vessel development	ISO Inferred from Sequence Orthology more info
involved_in brain development	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within brain development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within camera-type eye development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within camera-type eye development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cell fate commitment	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within cell fate commitment	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cell fate determination	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of cell population proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to fibroblast growth factor stimulus	IEA Inferred from Electronic Annotation more info
involved_in cellular response to glucose stimulus	IEA Inferred from Electronic Annotation more info
involved_in cellular response to insulin stimulus	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within cellular response to leukemia inhibitory factor	IEP Inferred from Expression Pattern more info	PubMed
involved_in cellular response to prostaglandin E stimulus	IEA Inferred from Electronic Annotation more info
involved_in cellular response to xenobiotic stimulus	IEA Inferred from Electronic Annotation more info
involved_in cerebellum development	IEA Inferred from Electronic Annotation more info
involved_in cerebral cortex development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cerebral cortex regionalization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cerebral cortex regionalization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in chromatin remodeling	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within commitment of neuronal cell to specific neuron type in forebrain	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cornea development in camera-type eye	IEA Inferred from Electronic Annotation more info
involved_in cornea development in camera-type eye	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within dorsal/ventral axis specification	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within dorsal/ventral pattern formation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within embryonic camera-type eye morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
involved_in epithelial cell development	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within establishment of mitotic spindle orientation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within eye photoreceptor cell development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in forebrain development	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within forebrain development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within forebrain dorsal/ventral pattern formation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within forebrain-midbrain boundary formation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of glandular epithelial cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in glucose homeostasis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within habenula development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in hindbrain development	ISO Inferred from Sequence Orthology more info
involved_in insulin metabolic process	IEA Inferred from Electronic Annotation more info
involved_in insulin metabolic process	ISO Inferred from Sequence Orthology more info
involved_in interkinetic nuclear migration	IEA Inferred from Electronic Annotation more info
involved_in interkinetic nuclear migration	ISO Inferred from Sequence Orthology more info
involved_in iris morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in iris morphogenesis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within keratinocyte differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within lacrimal gland development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in learned vocalization behavior or vocal learning	IEA Inferred from Electronic Annotation more info
involved_in learned vocalization behavior or vocal learning	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within lens development in camera-type eye	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of epithelial cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of neural precursor cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of neuroblast proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of neuron differentiation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within negative regulation of protein phosphorylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in nervous system development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in nervous system development	ISO Inferred from Sequence Orthology more info
involved_in neural crest cell migration	IEA Inferred from Electronic Annotation more info
involved_in neural crest cell migration	ISO Inferred from Sequence Orthology more info
acts_upstream_of neural precursor cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neural precursor cell proliferation	ISO Inferred from Sequence Orthology more info
acts_upstream_of neuroblast proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of neuron differentiation	IGI Inferred from Genetic Interaction more info	PubMed
involved_in neuron differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neuron migration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neuron migration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neuron migration	ISO Inferred from Sequence Orthology more info
involved_in olfactory bulb development	ISO Inferred from Sequence Orthology more info
involved_in olfactory bulb mitral cell layer development	IEA Inferred from Electronic Annotation more info
involved_in olfactory bulb mitral cell layer development	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within oligodendrocyte cell fate specification	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within pallium development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in pancreatic A cell development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in pancreatic A cell development	ISO Inferred from Sequence Orthology more info
involved_in pancreatic A cell differentiation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within pituitary gland development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of DNA-templated transcription	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of cell fate specification	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cell fate specification	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of core promoter binding	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of core promoter binding	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within positive regulation of epithelial cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of gene expression	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of glutamatergic neuron differentiation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of glutamatergic neuron differentiation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of miRNA transcription	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of miRNA transcription	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of neuroblast proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of neuron migration	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of neuron migration	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within protein localization to organelle	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of protein phosphorylation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regionalization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of DNA-templated transcription	TAS Traceable Author Statement more info	PubMed
acts_upstream_of_or_within regulation of asymmetric cell division	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of neurogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of neurogenesis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of neuron differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of neuron differentiation	ISO Inferred from Sequence Orthology more info
involved_in regulation of neuron projection development	IEA Inferred from Electronic Annotation more info
involved_in regulation of neuron projection development	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of timing of cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to ethanol	IEA Inferred from Electronic Annotation more info
involved_in response to wounding	IEA Inferred from Electronic Annotation more info
involved_in retina development in camera-type eye	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within retina development in camera-type eye	IGI Inferred from Genetic Interaction more info	PubMed
involved_in rhombomere morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in rhombomere morphogenesis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within salivary gland morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in sensory neuron migration	IEA Inferred from Electronic Annotation more info
involved_in sensory neuron migration	ISO Inferred from Sequence Orthology more info
involved_in sensory organ development	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within signal transduction involved in regulation of gene expression	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within smoothened signaling pathway	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within telencephalon regionalization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of transcription by RNA polymerase II	IGI Inferred from Genetic Interaction more info	PubMed
involved_in type B pancreatic cell differentiation	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within type B pancreatic cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in type B pancreatic cell differentiation	ISO Inferred from Sequence Orthology more info
involved_in ventral spinal cord development	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in chromatin	IDA Inferred from Direct Assay more info	PubMed
located_in chromatin	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytosol	IEA Inferred from Electronic Annotation more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in intracellular anatomical structure	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	ISO Inferred from Sequence Orthology more info
part_of transcription regulator complex	TAS Traceable Author Statement more info	PubMed

General protein information

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Preferred Names: paired box protein Pax-6

Names: Dickie's small eye; oculorhombin; paired box gene 6

NCBI Reference Sequences (RefSeq)

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NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001244198.2 → NP_001231127.1 paired box protein Pax-6 isoform 1

See identical proteins and their annotated locations for NP_001231127.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longest isoform (1). It initiates from the P0 promoter. Variants 1, 2, and 3 encode the same protein (isoform 1, also known as 5a).

Source sequence(s)

AK032616, AK139054, AL512589, CF724474, CN539723, CX565124

Consensus CDS

CCDS16499.1

UniProtKB/Swiss-Prot

P63015

Related

ENSMUSP00000106715.3, ENSMUST00000111086.11

Conserved Domains (2) summary

smart00351
Location:4 → 142

PAX; Paired Box domain

pfam00046
Location:228 → 281

Homeobox; Homeobox domain
NM_001244200.2 → NP_001231129.1 paired box protein Pax-6 isoform 1

See identical proteins and their annotated locations for NP_001231129.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. It initiates from the P1 promoter. Variants 1, 2, and 3 encode the same protein (isoform 1, also known as 5a).

Source sequence(s)

AK139054, AL512589, AY064175, CN538503, CN539723, CX565124

Consensus CDS

CCDS16499.1

UniProtKB/Swiss-Prot

P63015

UniProtKB/TrEMBL

Q8VBX9

Related

ENSMUSP00000129344.3, ENSMUST00000167211.9

Conserved Domains (2) summary

smart00351
Location:4 → 142

PAX; Paired Box domain

pfam00046
Location:228 → 281

Homeobox; Homeobox domain
NM_001244201.2 → NP_001231130.1 paired box protein Pax-6 isoform 2

See identical proteins and their annotated locations for NP_001231130.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) lacks an in-frame exon in the 5' coding region compared to variant 1. It initiates from the P0 promoter. The encoded isoform (2) is shorter than isoform 1. Variants 4, 5, and 6 encode the same protein (isoform 2).

Source sequence(s)

AK032616, AK139054, AL512589, CA751997, CN539723, CX565124

Consensus CDS

CCDS57181.1

UniProtKB/Swiss-Prot

P32117, P63015, P70601, Q3UTV5, Q62222, Q64037, Q8CEI5, Q8VDB5, Q921Q8

Related

ENSMUSP00000106716.3, ENSMUST00000111087.10

Conserved Domains (2) summary

smart00351
Location:4 → 128

PAX; Paired Box domain

pfam00046
Location:214 → 267

Homeobox; Homeobox domain
NM_001244202.2 → NP_001231131.1 paired box protein Pax-6 isoform 2

See identical proteins and their annotated locations for NP_001231131.1

Status: REVIEWED

Description

Transcript Variant: This variant (5) differs in the 5' UTR and lacks an in-frame exon in the 5' coding region compared to variant 1. The encoded isoform (2) is shorter than isoform 1. Variants 4, 5, and 6 encode the same protein (isoform 2).

Source sequence(s)

AK045805, AK139054, AL512589, BF466986, CA751997, CN539723, CX565124

Consensus CDS

CCDS57181.1

UniProtKB/Swiss-Prot

P32117, P63015, P70601, Q3UTV5, Q62222, Q64037, Q8CEI5, Q8VDB5, Q921Q8

Related

ENSMUSP00000106711.2, ENSMUST00000111082.8

Conserved Domains (2) summary

smart00351
Location:4 → 128

PAX; Paired Box domain

pfam00046
Location:214 → 267

Homeobox; Homeobox domain
NM_001310144.1 → NP_001297073.1 paired box protein Pax-6 isoform 2

See identical proteins and their annotated locations for NP_001297073.1

Status: REVIEWED

Description

Transcript Variant: This variant (6) differs in the 5' UTR and lacks an in-frame exon in the 5' coding region compared to variant 1. It initiates from the P1 promoter. The encoded isoform (2) is shorter than isoform 1. Variants 4, 5, and 6 encode the same protein (isoform 2).

Source sequence(s)

AK139054, AL512589, AY064175, CD805985, CN539431, CN539723, CX565124

Consensus CDS

CCDS57181.1

UniProtKB/Swiss-Prot

P32117, P63015, P70601, Q3UTV5, Q62222, Q64037, Q8CEI5, Q8VDB5, Q921Q8

Related

ENSMUSP00000087878.7, ENSMUST00000090397.13

Conserved Domains (2) summary

smart00351
Location:4 → 128

PAX; Paired Box domain

pfam00046
Location:214 → 267

Homeobox; Homeobox domain
NM_001310145.1 → NP_001297074.1 paired box protein Pax-6 isoform 3

See identical proteins and their annotated locations for NP_001297074.1

Status: REVIEWED

Description

Transcript Variant: This variant (7) differs in the 5' UTR and lacks a portion of the 5' coding region compared to variant 1. It initiates from the P alpha promoter. The encoded isoform (3) has a shorter N-terminus and lacks the paired domain, compared to isoform 1. Variants 7 and 8 encode the same protein (isoform 3, also known as DeltaPD).

Source sequence(s)

AK139054, AL512589, CK617741, CN539723, CX565124

UniProtKB/Swiss-Prot

P63015

Conserved Domains (1) summary

pfam00046
Location:78 → 131

Homeobox; Homeobox domain
NM_001310146.1 → NP_001297075.1 paired box protein Pax-6 isoform 3

See identical proteins and their annotated locations for NP_001297075.1

Status: REVIEWED

Description

Transcript Variant: This variant (8) differs in the 5' UTR and lacks a portion of the 5' coding region compared to variant 1. It initiates from the P alpha promoter. The encoded isoform (3) has a shorter N-terminus and lacks the paired domain, compared to isoform 1. Variants 7 and 8 encode the same protein (isoform 3, also known as DeltaPD).

Source sequence(s)

AK139054, AL512589, CN539723, CV784112, CX565124

UniProtKB/Swiss-Prot

P63015

Conserved Domains (1) summary

pfam00046
Location:78 → 131

Homeobox; Homeobox domain
NM_013627.6 → NP_038655.1 paired box protein Pax-6 isoform 1

See identical proteins and their annotated locations for NP_038655.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2, and 3 encode the same protein (isoform 1, also known as 5a).

Source sequence(s)

AK045805, AK139054, AL512589, BF466986, CF724474, CN539723, CX565124

Consensus CDS

CCDS16499.1

UniProtKB/Swiss-Prot

P63015

Related

ENSMUSP00000087870.6, ENSMUST00000090391.13

Conserved Domains (2) summary

smart00351
Location:4 → 142

PAX; Paired Box domain

pfam00046
Location:228 → 281

Homeobox; Homeobox domain