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

    Gene ID: 18505, updated on 5-Nov-2017
    Official Symbol
    Pax3provided by MGI
    Official Full Name
    paired box 3provided by MGI
    Primary source
    MGI:MGI:97487
    See related
    Ensembl:ENSMUSG00000004872 Vega:OTTMUSG00000037633
    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
    Orthologs
    Location:
    1 C4; 1 39.79 cM
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    106 current GRCm38.p4 (GCF_000001635.24) 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_000067.6Genomic Context describing neighboring genes Neighboring gene predicted gene, 32974 Neighboring gene predicted gene, 33083 Neighboring gene predicted gene, 33030 Neighboring gene predicted gene, 33152 Neighboring gene predicted gene 2102

    • 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

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    DNA binding transcription factor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    HMG box domain binding ISO
    Inferred from Sequence Orthology
    more info
     
    chromatin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    sequence-specific DNA binding ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    cardiac muscle cell differentiation NAS
    Non-traceable Author Statement
    more info
    PubMed 
    cell migration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    developmental pigmentation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    heart development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    mammary gland specification IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    multicellular organism development IEA
    Inferred from Electronic Annotation
    more info
     
    muscle organ development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of transcription from RNA polymerase II promoter IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    nervous system development IEA
    Inferred from Electronic Annotation
    more info
     
    neural crest cell migration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    neural tube closure IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    neural tube development IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    neuron fate commitment IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    positive regulation of cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of transcription from RNA polymerase II promoter IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of transcription from RNA polymerase II promoter ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    positive regulation of transcription, DNA-templated ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    regulation of somitogenesis IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    regulation of somitogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of transcription, DNA-templated IEA
    Inferred from Electronic Annotation
    more info
     
    skeletal muscle cell differentiation NAS
    Non-traceable Author Statement
    more info
    PubMed 
    skeletal muscle organ development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    spinal cord association neuron differentiation IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    transcription, DNA-templated IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transcription factor complex TAS
    Traceable Author Statement
    more info
    PubMed 
    Preferred Names
    paired box protein Pax-3
    Names
    PAX3/FKHR fusion
    paired box gene 3

    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
      ENSMUSP00000004994.9, OTTMUSP00000054372, ENSMUST00000004994.15, OTTMUST00000097090
      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
      ENSMUSP00000084320.6, OTTMUSP00000054373, ENSMUST00000087086.6, OTTMUST00000097091
      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 106 details...Open this link in a new tab

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

    Reference GRCm38.p4 C57BL/6J

    Genomic

    1. NC_000067.6 Reference GRCm38.p4 C57BL/6J

      Range
      78101267..78197136 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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