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Pax3 paired box 3 [ Mus musculus (house mouse) ]

Gene ID: 18505, updated on 23-Nov-2021

Summary

Official Symbol
Pax3provided by MGI
Official Full Name
paired box 3provided by MGI
Primary source
MGI:MGI:97487
See related
Ensembl:ENSMUSG00000004872
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Sp; Pax-3; Splchl2; splotch
Expression
Biased expression in CNS E11.5 (RPKM 7.2), whole brain E14.5 (RPKM 2.1) and 3 other tissues See more
Orthologs
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Genomic context

See Pax3 in Genome Data Viewer
Location:
1 C4; 1 39.79 cM
Exon count:
8
Annotation release Status Assembly Chr Location
109 current GRCm39 (GCF_000001635.27) 1 NC_000067.7 (78077904..78173773, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 1 NC_000067.6 (78101267..78197136, complement)
Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 1 NC_000067.5 (78097842..78193711, complement)

Chromosome 1 - NC_000067.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 33030 Neighboring gene predicted gene, 26263 Neighboring gene VISTA enhancer mm1092 Neighboring gene Pax3 promoter region Neighboring gene Pax3 upstream hypaxial enhancer Neighboring gene Pax3 enhancer in intron 4 Neighboring gene predicted gene, 33152 Neighboring gene predicted gene 2102

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

Homology

Gene Ontology Provided by MGI

Process Evidence Code Pubs
involved_in anatomical structure development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in cardiac muscle cell differentiation NAS
Non-traceable Author Statement
more info
PubMed 
acts_upstream_of_or_within cell migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within cell population proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within developmental pigmentation IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within heart development IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within mammary gland specification 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 muscle organ development IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within negative regulation of transcription by RNA polymerase II IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within nervous system development IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within neural crest cell migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within neural tube closure IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within neural tube development IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within neuron fate commitment IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within positive regulation of cell population proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within 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 ISO
Inferred from Sequence Orthology
more info
PubMed 
acts_upstream_of_or_within positive regulation of transcription, DNA-templated ISO
Inferred from Sequence Orthology
more info
PubMed 
acts_upstream_of_or_within regulation of somitogenesis IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within regulation of somitogenesis 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
PubMed 
involved_in regulation of transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
involved_in skeletal muscle cell differentiation NAS
Non-traceable Author Statement
more info
PubMed 
acts_upstream_of_or_within skeletal muscle organ development IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within spinal cord association neuron differentiation IGI
Inferred from Genetic Interaction
more info
PubMed 
Component Evidence Code Pubs
located_in nucleoplasm ISO
Inferred from Sequence Orthology
more info
 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 
part_of transcription regulator complex TAS
Traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
paired box protein Pax-3
Names
PAX3/FKHR fusion
paired box gene 3

NCBI Reference Sequences (RefSeq)

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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_001159520.1NP_001152992.1  paired box protein Pax-3 isoform b

    See identical proteins and their annotated locations for NP_001152992.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) contains an alternate splice site in the 3' coding region, compared to variant 1. This results in a distinct C-terminus and longer protein (isoform b), compared to isoform a.
    Source sequence(s)
    AC118213, AK044985, AK045018, AK157760
    Consensus CDS
    CCDS48294.1
    UniProtKB/Swiss-Prot
    P24610
    UniProtKB/TrEMBL
    Q3TZM4, Q8BRF1
    Related
    ENSMUSP00000004994.10, ENSMUST00000004994.16
    Conserved Domains (3) summary
    pfam00046
    Location:222275
    Homeobox; Homeobox domain
    pfam00292
    Location:34159
    PAX; 'Paired box' domain
    pfam12360
    Location:347391
    Pax7; Paired box protein 7
  2. NM_008781.4NP_032807.3  paired box protein Pax-3 isoform a

    See identical proteins and their annotated locations for NP_032807.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript but encodes the shorter isoform (a).
    Source sequence(s)
    AC118213, AK045018, AK147919, AK148354, AK157760
    Consensus CDS
    CCDS15082.1
    UniProtKB/Swiss-Prot
    P24610
    UniProtKB/TrEMBL
    Q3TZM4, Q3UGH9
    Related
    ENSMUSP00000084320.7, ENSMUST00000087086.7
    Conserved Domains (3) summary
    pfam00046
    Location:222275
    Homeobox; Homeobox domain
    pfam00292
    Location:34159
    PAX; 'Paired box' domain
    pfam12360
    Location:347391
    Pax7; Paired box protein 7

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000067.7 Reference GRCm39 C57BL/6J

    Range
    78077904..78173773 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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