paired box protein PAX3 (PAX3, HUP2)
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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
Alternative splicing
named isoforms=3
Pathology
- defects in PAX3 are the cause of
- 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
More general terms
Additional terms
References
- ↑ Harrison's Principles of Internal Medicine, 14th ed. Fauci et al (eds), McGraw-Hill Inc. NY, 1998, pg 317
- ↑ UniProt http://www.uniprot.org/uniprot/P23760.html
- ↑ Entrez Gene http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=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
Database
- UniProt: http://www.uniprot.org/uniprot/P23760.html
- Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:5077
- OMIM: https://mirror.omim.org/entry/122880
- OMIM: https://mirror.omim.org/entry/148820
- OMIM: https://mirror.omim.org/entry/193500
- OMIM: https://mirror.omim.org/entry/268220
- OMIM: https://mirror.omim.org/entry/606597
- Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=5077