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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
Related
paired box gene 7 (PAX7)
General
paired box protein (PAX)
Properties
SIZE: MW = 57 kD
entity length = 520 aa
COMPARTMENT: cell nucleus
MOTIF: paired box
SITE: 34-161
homeodomain
SITE: 217-276
alanine residue {340-346} (7)
Database Correlations
OMIM 167410
UniProt P23759
PFAM correlations
Entrez Gene 5081
Kegg hsa:5081
References
- UniProt :accession P23759
- Entrez Gene :accession 5081