PAX3- & PAX7-binding protein 1; GC-rich sequence DNA-binding factor 1 (PAXBP1, C21orf66, GCFC, GCFC1)

Function

• adapter protein linking the transcription factors PAX3 & PAX7 to the histone methylation machinery & involved in myogenesis
• associates with an histone methyltransferase complex through direct interaction with WDR5
  • mediates recruitment of histone methyltransferase complex to the transcription factors PAX3 & PAX7 on chromatin to regulate expression of genes involved in muscle progenitor cells proliferation including ID3 & CDC20 (putative)
• interacts with PAX3 & PAX7
• interacts with WDR5

Structure

belongs to the GCF family

Compartment

nucleus (putative)

Alternative splicing

• named isoforms=4
• most abundantly expressed isoform, at mRNA level, contains a premature stop codon in the mRNA that may lead to nonsense-mediated mRNA decay

Expression

ubiquitous

More general terms

• nuclear protein
• phosphoprotein

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=94104
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:94104
• UniProt: http://www.uniprot.org/uniprot/Q9Y5B6.html