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

Gene ID: 67367, updated on 5-Mar-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
Predicted to enable DNA binding activity. Acts upstream of or within positive regulation of myoblast proliferation; positive regulation of nitrogen compound metabolic process; 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, Apr 2022]
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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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 survival of CD4 and CD8 double-positive thymocytes. Li W, et al. Front Immunol, 2023. PMID 37404821, Free PMC Article
  2. 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
  3. 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
  4. From PREDs and open reading frames to cDNA isolation: revisiting the human chromosome 21 transcription map. Reymond A, et al. Genomics, 2001 Nov. PMID 11707072
  5. A gene expression map of human chromosome 21 orthologues in the mouse. Gitton Y, et al. Nature, 2002 Dec 5. PMID 12466855

See all (27) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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
  
acts_upstream_of_or_within 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.

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