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

Gene ID: 18508, updated on 20-Feb-2024

Summary

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
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Genomic context

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_000068.8Genomic Context describing neighboring genes Neighboring gene paired box 6 opposite strand 1 Neighboring gene STARR-seq mESC enhancer starr_05312 Neighboring gene Pax6 upstream regulatory region Neighboring gene predicted gene, 35946 Neighboring gene STARR-seq mESC enhancer starr_05314 Neighboring gene enhancer in intron 4 of Pax6 Neighboring gene enhancer region in intron 7 of Pax6 Neighboring gene Pax6 upstream antisense RNA Neighboring gene STARR-seq mESC enhancer starr_05317 Neighboring gene elongator acetyltransferase complex subunit 4 Neighboring gene RB enhancer downstream of Pax6 Neighboring gene Pax6 downstream regulatory region Neighboring gene STARR-seq mESC enhancer starr_05318 Neighboring gene STARR-seq mESC enhancer starr_05319 Neighboring gene STARR-positive B cell enhancer ABC_E639 Neighboring gene IMP1 inner mitochondrial membrane peptidase-like (S. cerevisiae) Neighboring gene CapStarr-seq enhancer MGSCv37_chr2:105843384-105843567 Neighboring gene DnaJ heat shock protein family (Hsp40) member C24 Neighboring gene doublecortin domain containing 5

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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 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
involved_in DNA demethylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in DNA methylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in anatomical structure development IBA
Inferred from Biological aspect of Ancestor
more info
 
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 ISO
Inferred from Sequence Orthology
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 
acts_upstream_of_or_within cellular response to leukemia inhibitory factor IEP
Inferred from Expression Pattern
more info
PubMed 
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 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 
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 ISO
Inferred from Sequence Orthology
more info
 
involved_in interkinetic nuclear migration ISO
Inferred from Sequence Orthology
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 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 multicellular organism development IEA
Inferred from Electronic Annotation
more info
 
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 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 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 ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of core promoter binding ISO
Inferred from Sequence Orthology
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 ISO
Inferred from Sequence Orthology
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 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 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 
acts_upstream_of_or_within retina development in camera-type eye IGI
Inferred from Genetic Interaction
more info
PubMed 
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 ISO
Inferred from Sequence Orthology
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 
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
part_of chromatin IDA
Inferred from Direct Assay
more info
PubMed 
part_of chromatin ISO
Inferred from Sequence Orthology
more info
 
located_in cytoplasm ISO
Inferred from Sequence Orthology
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

Preferred Names
paired box protein Pax-6
Names
Dickie's small eye
oculorhombin
paired box gene 6

NCBI Reference Sequences (RefSeq)

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)

  1. NM_001244198.2NP_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:4142
    PAX; Paired Box domain
    pfam00046
    Location:228281
    Homeobox; Homeobox domain
  2. NM_001244200.2NP_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:4142
    PAX; Paired Box domain
    pfam00046
    Location:228281
    Homeobox; Homeobox domain
  3. NM_001244201.2NP_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:4128
    PAX; Paired Box domain
    pfam00046
    Location:214267
    Homeobox; Homeobox domain
  4. NM_001244202.2NP_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:4128
    PAX; Paired Box domain
    pfam00046
    Location:214267
    Homeobox; Homeobox domain
  5. NM_001310144.1NP_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:4128
    PAX; Paired Box domain
    pfam00046
    Location:214267
    Homeobox; Homeobox domain
  6. NM_001310145.1NP_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:78131
    Homeobox; Homeobox domain
  7. NM_001310146.1NP_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:78131
    Homeobox; Homeobox domain
  8. NM_013627.6NP_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:4142
    PAX; Paired Box domain
    pfam00046
    Location:228281
    Homeobox; Homeobox domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000068.8 Reference GRCm39 C57BL/6J

    Range
    105499241..105528755
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)