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    Paxbp1 PAX3 and PAX7 binding protein 1 [ Mus musculus (house mouse) ]

    Gene ID: 67367, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Paxbp1provided by MGI
    Official Full Name
    PAX3 and PAX7 binding protein 1provided by MGI
    Primary source
    MGI:MGI:1914617
    See related
    Ensembl:ENSMUSG00000022974 AllianceGenome:MGI:1914617
    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
    Gcfc; Gcfc1; C21orf66; Pax3/7bp; 1810007M14Rik
    Summary
    Enables histone methyltransferase binding activity. Acts upstream of or within positive regulation of myoblast proliferation; positive regulation of transcription by RNA polymerase II; and regulation of skeletal muscle satellite cell proliferation. Located in nucleus. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; respiratory system; and sensory organ. Orthologous to human PAXBP1 (PAX3 and PAX7 binding protein 1). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in CNS E11.5 (RPKM 28.4), CNS E14 (RPKM 26.4) and 25 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Paxbp1 in Genome Data Viewer
    Location:
    16 C3.3; 16 52.3 cM
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 16 NC_000082.7 (90810925..90841267, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 16 NC_000082.6 (91014037..91044379, complement)

    Chromosome 16 - NC_000082.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 53919 Neighboring gene STARR-positive B cell enhancer ABC_E4188 Neighboring gene cilia and flagella associate protien 298 Neighboring gene synaptojanin 1 Neighboring gene RIKEN cDNA 4930404I05 gene Neighboring gene STARR-positive B cell enhancer mm9_chr16:91012148-91012449 Neighboring gene STARR-seq mESC enhancer starr_41471 Neighboring gene exosomal polycystin 1 interacting protein Neighboring gene STARR-seq mESC enhancer starr_41472 Neighboring gene STARR-positive B cell enhancer ABC_E8977 Neighboring gene H3.3 histone A, pseudogene 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. Paxbp1 is indispensable for the maintenance of peripheral CD4 T cell homeostasis. Li W, et al. Immunology, 2024 Aug. PMID 38750609
    2. Paxbp1 Is Indispensable for the Maintenance of Epidermal Homeostasis. Huang C, et al. J Invest Dermatol, 2024 Sep 3. PMID 39236903
    3. Paxbp1 is indispensable for the survival of CD4 and CD8 double-positive thymocytes. Li W, et al. Front Immunol, 2023. PMID 37404821, Free PMC Article
    4. Paxbp1 controls a key checkpoint for cell growth and survival during early activation of quiescent muscle satellite cells. Zhou S, et al. Proc Natl Acad Sci U S A, 2021 Mar 30. PMID 33753492, Free PMC Article
    5. Pax3/7BP is a Pax7- and Pax3-binding protein that regulates the proliferation of muscle precursor cells by an epigenetic mechanism. Diao Y, et al. Cell Stem Cell, 2012 Aug 3. PMID 22862948

    See all (29) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Paxbp1 is indispensable for the maintenance of peripheral CD4 T cell homeostasis.
      Title: Paxbp1 is indispensable for the maintenance of peripheral CD4 T cell homeostasis.
    2. Paxbp1 is indispensable for the survival of CD4 and CD8 double-positive thymocytes.
      Title: Paxbp1 is indispensable for the survival of CD4 and CD8 double-positive thymocytes.
    3. Paxbp1 controls a key checkpoint for cell growth and survival during early activation of quiescent muscle satellite cells.
      Title: Paxbp1 controls a key checkpoint for cell growth and survival during early activation of quiescent muscle satellite cells.
    4. Pax3/7BP as an essential adaptor linking Pax3/7 with the histone 3 lysine 4 (H3K4) methyltransferase to regulate the proliferation of muscle precursor cells
      Title: Pax3/7BP is a Pax7- and Pax3-binding protein that regulates the proliferation of muscle precursor cells by an epigenetic mechanism.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables DNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables histone methyltransferase binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables transcription factor binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in mRNA splicing, via spliceosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in muscle organ development IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within positive regulation of myoblast proliferation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within regulation of skeletal muscle satellite cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of transcription by RNA polymerase II IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    PAX3- and PAX7-binding protein 1
    Names
    GC-rich sequence DNA-binding factor 1
    GC-rich sequence DNA-binding factor homolog

    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_026110.2 → NP_080386.3  PAX3- and PAX7-binding protein 1

      See identical proteins and their annotated locations for NP_080386.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the functional protein.
      Source sequence(s)
      AC141885
      Consensus CDS
      CCDS49908.1
      UniProtKB/Swiss-Prot
      E9QNN9, P58501, Q78XY2, Q8R2W3, Q9CRB7
      UniProtKB/TrEMBL
      A0A1S6GWK5
      Related
      ENSMUSP00000113835.2, ENSMUST00000118522.8
      Conserved Domains (1) summary
      pfam07842
      Location:597 → 808
      GCFC; GC-rich sequence DNA-binding factor-like protein

    RNA

    1. NR_152264.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the 3' region compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC141885

    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_000082.7 Reference GRCm39 C57BL/6J

      Range
      90810925..90841267 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P58501.3 GenPept UniProtKB/Swiss-Prot:P58501

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
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