Gene content    
PAX7 ( by HUGO)
Paired Box 7
Other
Paired Box 7
HUP1
RMS2
Paired Box Gene 7
PAX7B
Paired Box Homeotic Gene 7
Paired Box Protein Pax-7
Paired Domain Gene 7
PAX7 Transcriptional Factor
HuP1
NCBI: 1p36.13    Ensembl: 1p36.13
PAX7_HUMANSize: 520 amino acidsMass: 56896 Da

  • Subunit: Can bind to DNA as a heterodimer with PAX3. Interacts with PAXBP1; the interaction links PAX7 to a WDR5-containing histone methyltransferase complex (By similarity). Interacts with DAXX
  • Function:
    UniProtKB/Swiss-Prot Summary: PAX7_HUMAN, P23759 Function: Transcription factor playing a role in myogenesis through regulation of muscle precursor cells proliferation (By similarity)
  • Similarity:
    Belongs to the paired homeobox family
                          
    Contains 1 homeobox DNA-binding domain
                          
    Contains 1 paired domain [IMAGE]

    • Protein Domain/Family    
    Source ID Domain Name Type
    InterProIPR001356Homeobox_domHomeoboxDomain
    IPR001523Paired_domPaired box protein, N-terminalDomain
    IPR009057Homeodomain-likeHomeodomain-likeDomain
    IPR011991WHTH_DNA-bd_domWinged helix repressor DNA-bindingDomain
    BlocksIPB001523Paired box proteinPaired box protein, N-terminal

    Gene Ontology    
    Type Term Evidence Source Pub
    Biological Process anatomical structure morphogenesis TAS GOA 9339373
    negative regulation of apoptotic process TAS GOA 10871843
    Molecular Function sequence-specific DNA binding transcription factor activity TAS GOA 9339373

    Disorder & Mutation    
    Source Disease
    SWISS-PROTRhabdomyosarcoma 2 (RMS2) [MIM:268220]: A form of rhabdomyosarcoma, a highly malignant tumor of striated muscle derived from primitive mesenchymal cells and exhibiting differentiation along rhabdomyoblastic lines. Rhabdomyosarcoma is one of the most frequently occurring soft tissue sarcomas and the most common in children. It occurs in four forms: alveolar, pleomorphic, embryonal and botryoidal rhabdomyosarcomas. Note=The gene represented in this entry is involved in disease pathogenesis. A chromosomal aberration involving PAX7 is found in rhabdomyosarcoma. Translocation t(1;13)(p36;q14) with FOXO1. The resulting protein is a transcriptional activator

    PAX7 cross reference    
    PubMed OMIM Entrez Gene NCKU SNP Nucleotide UniProt Genome Data Viewer HomoloGene