Search
paired box protein PAX3 (PAX3, HUP2)
Function:
- probable transcription factor
- can bind to DNA as a heterodimer with PAX7
- 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=3
Pathology:
- defects in PAX3 are the cause of
a) Waardenburg syndrome 1
b) Waardenburg syndrome 3
c) craniofacial-deafness-hand syndrome
- chromosomal translocation t(2;13)(q35;q14) involving PAX3 with FOXO1 is a cause of rhabdomyosarcoma 2
- chromosomal translocation t(2;2)(q35;p23) involving PAX3 with NCOA1 is a cause of rhabdomyosarcoma; translocation generates the NCOA1-PAX3 oncogene consisting of the N-terminus part of PAX3 & the C-terminus part of NCOA1; the fusion protein acts as a transcriptional activator
Related
PAX3, WS1, HUP2 or CDHS gene
Waardenburg syndrome
General
paired box protein (PAX)
Properties
SIZE: MW = 53 kD
entity length = 479 aa
COMPARTMENT: cell nucleus
MOTIF: paired box
SITE: 34-161
homeodomain
SITE: 219-278
Breakpoint {319-320}
Database Correlations
OMIM correlations
MORBIDMAP 606597
UniProt P23760
PFAM correlations
Entrez Gene 5077
Kegg hsa:5077
References
- Harrison's Principles of Internal Medicine, 14th ed.
Fauci et al (eds), McGraw-Hill Inc. NY, 1998, pg 317
- UniProt :accession P23760
- Entrez Gene :accession 5077
- Atlas of genetics & cytogenetics in oncology & haematology
http://atlasgeneticsoncology.org/genes/PAX3ID70ch2q35.html
- GeneReviews
https://www.genecards.org/cgi-bin/carddisp.pl?gene=PAX3