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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 [2]
Expression: ubiquitous
General
nuclear protein
phosphoprotein
Properties
SIZE: entity length = 917 aa
MW = 105 kD
COMPARTMENT: cell nucleus
MOTIF: Ser phosphorylation site {S16}
Ser phosphorylation site {S154}
Ser phosphorylation site {S155}
Ser phosphorylation site {S158}
Ser phosphorylation site {S262}
Ser phosphorylation site {S295}
Necessary and sufficient for interaction with PAX7 {378-558}
MOTIF: Ser phosphorylation site {S557}
Ser phosphorylation site {S558}
Database Correlations
UniProt Q9Y5B6
Pfam PF07842
Entrez Gene 94104
Kegg hsa:94104
References
- UniProt :accession Q9Y5B6
- Reymond A, Friedli M, Henrichsen CN et al
From PREDs and open reading frames to cDNA isolation:
revisiting the human chromosome 21 transcription map.
Genomics. 2001 Nov;78(1-2):46-54.
PMID: 11707072