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Paired box gene 7
Symbols PAX7; HUP1; PAX7B
External IDs OMIM167410 MGI97491 HomoloGene55665 GeneCards: PAX7 Gene
RNA expression pattern
PBB GE PAX7 208060 at tn.png
More reference expression data
Species Human Mouse
Entrez 5081 18509
Ensembl ENSG00000009709 ENSMUSG00000028736
UniProt P23759 Q7TPG3
RefSeq (mRNA) NM_002584 NM_011039
RefSeq (protein) NP_002575 NP_035169
Location (UCSC) Chr 1:
18.83 - 18.94 Mb
Chr 4:
139.01 - 139.11 Mb
PubMed search [1] [2]

Paired box protein Pax-7 is a protein that in humans is encoded by the PAX7 gene.[1][2][3]

This gene is a member of the paired box (PAX) family of transcription factors. Members of this gene family typically contain a paired box domain, an octapeptide, and a paired-type homeodomain. These genes play critical roles during fetal development and cancer growth. The specific function of the paired box gene 7 is unknown but speculated to involve tumor suppression since fusion of this gene with a forkhead domain family member has been associated with alveolar rhabdomyosarcoma. Alternative splicing in this gene has produced two known products but the biological significance of the variants is unknown.[3]


See also


  1. ^ Stapleton P, Weith A, Urbanek P, Kozmik Z, Busslinger M (Jan 1995). "Chromosomal localization of seven PAX genes and cloning of a novel family member, PAX-9". Nat Genet 3 (4): 292-8. doi:10.1038/ng0493-292. PMID 7981748.  
  2. ^ Pilz AJ, Povey S, Gruss P, Abbott CM (Mar 1993). "Mapping of the human homologs of the murine paired-box-containing genes". Mamm Genome 4 (2): 78-82. PMID 8431641.  
  3. ^ a b "Entrez Gene: PAX7 paired box gene 7".  

Further reading

  • Blake J, Ziman MR (2003). "Aberrant PAX3 and PAX7 expression. A link to the metastatic potential of embryonal rhabdomyosarcoma and cutaneous malignant melanoma?". Histol. Histopathol. 18 (2): 529–39. PMID 12647804.  
  • Burri M, Tromvoukis Y, Bopp D, et al. (1989). "Conservation of the paired domain in metazoans and its structure in three isolated human genes.". Embo J. 8 (4): 1183–90. PMID 2501086.  
  • Schäfer BW, Czerny T, Bernasconi M, et al. (1995). "Molecular cloning and characterization of a human PAX-7 cDNA expressed in normal and neoplastic myocytes.". Nucleic Acids Res. 22 (22): 4574–82. doi:10.1093/nar/22.22.4574. PMID 7527137.  
  • Shapiro DN, Sublett JE, Li B, et al. (1993). "The gene for PAX7, a member of the paired-box-containing genes, is localized on human chromosome arm 1p36.". Genomics 17 (3): 767–9. doi:10.1006/geno.1993.1404. PMID 7902328.  
  • Cross SH, Charlton JA, Nan X, Bird AP (1994). "Purification of CpG islands using a methylated DNA binding column.". Nat. Genet. 6 (3): 236–44. doi:10.1038/ng0394-236. PMID 8012384.  
  • Schäfer BW, Mattei MG (1993). "The human paired domain gene PAX7 (Hup1) maps to chromosome 1p35-1p36.2.". Genomics 17 (1): 249–51. doi:10.1006/geno.1993.1315. PMID 8104868.  
  • Barr FG, Nauta LE, Davis RJ, et al. (1996). "In vivo amplification of the PAX3-FKHR and PAX7-FKHR fusion genes in alveolar rhabdomyosarcoma.". Hum. Mol. Genet. 5 (1): 15–21. doi:10.1093/hmg/5.1.15. PMID 8789435.  
  • Vorobyov E, Mertsalov I, Dockhorn-Dworniczak B, et al. (1997). "The genomic organization and the full coding region of the human PAX7 gene.". Genomics 45 (1): 168–74. doi:10.1006/geno.1997.4915. PMID 9339373.  
  • Magnaghi P, Roberts C, Lorain S, et al. (1998). "HIRA, a mammalian homologue of Saccharomyces cerevisiae transcriptional co-repressors, interacts with Pax3.". Nat. Genet. 20 (1): 74–7. doi:10.1038/1739. PMID 9731536.  
  • Margue CM, Bernasconi M, Barr FG, Schäfer BW (2000). "Transcriptional modulation of the anti-apoptotic protein BCL-XL by the paired box transcription factors PAX3 and PAX3/FKHR.". Oncogene 19 (25): 2921–9. doi:10.1038/sj.onc.1203607. PMID 10871843.  
  • Kondrashov AV, Pospelov VA (2002). "[In vitro modelling of the interactions between the promoter and enhancer complexes]". Tsitologiia 43 (8): 764–71. PMID 11601392.  
  • Sorensen PH, Lynch JC, Qualman SJ, et al. (2002). "PAX3-FKHR and PAX7-FKHR gene fusions are prognostic indicators in alveolar rhabdomyosarcoma: a report from the children's oncology group.". J. Clin. Oncol. 20 (11): 2672–9. doi:10.1200/JCO.2002.03.137. PMID 12039929.  
  • Syagailo YV, Okladnova O, Reimer E, et al. (2003). "Structural and functional characterization of the human PAX7 5'-flanking regulatory region.". Gene 294 (1-2): 259–68. doi:10.1016/S0378-1119(02)00798-9. PMID 12234688.  
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.  
  • Tiffin N, Williams RD, Shipley J, Pritchard-Jones K (2003). "PAX7 expression in embryonal rhabdomyosarcoma suggests an origin in muscle satellite cells.". Br. J. Cancer 89 (2): 327–32. doi:10.1038/sj.bjc.6601040. PMID 12865925.  
  • Tomescu O, Xia SJ, Strezlecki D, et al. (2004). "Inducible short-term and stable long-term cell culture systems reveal that the PAX3-FKHR fusion oncoprotein regulates CXCR4, PAX3, and PAX7 expression.". Lab. Invest. 84 (8): 1060–70. doi:10.1038/labinvest.3700125. PMID 15184910.  
  • Vorobyov E, Horst J (2005). "Expression of two protein isoforms of PAX7 is controlled by competing cleavage-polyadenylation and splicing.". Gene 342 (1): 107–12. doi:10.1016/j.gene.2004.07.030. PMID 15527970.  

External links

This article incorporates text from the United States National Library of Medicine, which is in the public domain.



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