paired box protein PAX7 (PAX7, HUP1)

Function

• probable transcription factor
• may have a role in myogenesis
• can bind to DNA as a heterodimer with PAX3
• interacts with DAXX

Structure

• belongs to the paired homeobox family
• contains 1 homeobox DNA-binding domain
• contains 1 paired domain

Compartment

nucleus

Alternative splicing

named isoforms=2

Pathology

• chromosomal translocation t(1;13)(p36;q14 involving PAX7 with FOXO1A is a cause of rhabdomyosarcoma 2; the resulting fusion protein is a transcriptional activator

More general terms

• paired box protein (PAX)

Database

• UniProt: http://www.uniprot.org/uniprot/P23759.html
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:5081
• OMIM: https://mirror.omim.org/entry/167410
• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=5081