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Paired box gene 4
Identifiers
Symbols PAX4; MGC129960
External IDs OMIM167413 MGI97488 HomoloGene4515 GeneCards: PAX4 Gene
RNA expression pattern
PBB GE PAX4 207867 at tn.png
PBB GE PAX4 211176 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 5078 18506
Ensembl ENSG00000106331 ENSMUSG00000029706
UniProt n/a Q9EQ02
RefSeq (mRNA) NM_006193 NM_011038
RefSeq (protein) NP_006184 NP_035168
Location (UCSC) Chr 7:
127.04 - 127.04 Mb
Chr 6:
28.39 - 28.4 Mb
PubMed search [1] [2]

Paired box gene 4, also known as PAX4, is a protein which in humans is encoded by the PAX4 gene.[1][2][3]

Contents

Function

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 paired box gene 4 is involved in pancreatic islet development and mouse studies have demonstrated a role for this gene in differentiation of insulin-producing beta cells.[1]

See also

References

  1. ^ a b "Entrez Gene: PAX4 paired box gene 4". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5078.  
  2. ^ Matsushita T, Yamaoka T, Otsuka S, Moritani M, Matsumoto T, Itakura M (January 1998). "Molecular cloning of mouse paired-box-containing gene (Pax)-4 from an islet beta cell line and deduced sequence of human Pax-4". Biochem. Biophys. Res. Commun. 242 (1): 176–80. doi:10.1006/bbrc.1997.7935. PMID 9439631.  
  3. ^ Inoue H, Nomiyama J, Nakai K, Matsutani A, Tanizawa Y, Oka Y (February 1998). "Isolation of full-length cDNA of mouse PAX4 gene and identification of its human homologue". Biochem. Biophys. Res. Commun. 243 (2): 628–33. doi:10.1006/bbrc.1998.8144. PMID 9480859.  

Further reading

  • Collombat P, Xu X, Ravassard P, Sosa-Pineda B, Dussaud S, Billestrup N, Madsen OD, Serup P, Heimberg H, Mansouri A (August 2009). "The ectopic expression of Pax4 in the mouse pancreas converts progenitor cells into alpha and subsequently beta cells". Cell 138 (3): 449–62. doi:10.1016/j.cell.2009.05.035. PMID 19665969.  
  • Sosa-Pineda B (2005). "The gene Pax4 is an essential regulator of pancreatic beta-cell development.". Mol. Cells 18 (3): 289–94. PMID 15650323.  
  • Stapleton P, Weith A, Urbánek P, et al. (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.  
  • Tamura T, Izumikawa Y, Kishino T, et al. (1994). "Assignment of the human PAX4 gene to chromosome band 7q32 by fluorescence in situ hybridization.". Cytogenet. Cell Genet. 66 (2): 132–4. doi:10.1159/000133684. PMID 8287686.  
  • Pilz AJ, Povey S, Gruss P, Abbott CM (1993). "Mapping of the human homologs of the murine paired-box-containing genes.". Mamm. Genome 4 (2): 78–82. doi:10.1007/BF00290430. PMID 8431641.  
  • Matsushita T, Yamaoka T, Otsuka S, et al. (1998). "Molecular cloning of mouse paired-box-containing gene (Pax)-4 from an islet beta cell line and deduced sequence of human Pax-4.". Biochem. Biophys. Res. Commun. 242 (1): 176–80. doi:10.1006/bbrc.1997.7935. PMID 9439631.  
  • Inoue H, Nomiyama J, Nakai K, et al. (1998). "Isolation of full-length cDNA of mouse PAX4 gene and identification of its human homologue.". Biochem. Biophys. Res. Commun. 243 (2): 628–33. doi:10.1006/bbrc.1998.8144. PMID 9480859.  
  • Bonthron DT, Dunlop N, Barr DG, et al. (1998). "Organisation of the human PAX4 gene and its exclusion as a candidate for the Wolcott-Rallison syndrome.". J. Med. Genet. 35 (4): 288–92. doi:10.1136/jmg.35.4.288. PMID 9598721.  
  • Tao T, Wasson J, Bernal-Mizrachi E, et al. (1998). "Isolation and characterization of the human PAX4 gene.". Diabetes 47 (10): 1650–3. doi:10.2337/diabetes.47.10.1650. PMID 9753306.  
  • Smith SB, Watada H, Scheel DW, et al. (2001). "Autoregulation and maturity onset diabetes of the young transcription factors control the human PAX4 promoter.". J. Biol. Chem. 275 (47): 36910–9. doi:10.1074/jbc.M005202200. PMID 10967107.  
  • Miyamoto T, Kakizawa T, Ichikawa K, et al. (2001). "Expression of dominant negative form of PAX4 in human insulinoma.". Biochem. Biophys. Res. Commun. 282 (1): 34–40. doi:10.1006/bbrc.2001.4552. PMID 11263967.  
  • Shimajiri Y, Sanke T, Furuta H, et al. (2001). "A missense mutation of Pax4 gene (R121W) is associated with type 2 diabetes in Japanese.". Diabetes 50 (12): 2864–9. doi:10.2337/diabetes.50.12.2864. PMID 11723072.  
  • Kanatsuka A, Tokuyama Y, Nozaki O, et al. (2002). "Beta-cell dysfunction in late-onset diabetic subjects carrying homozygous mutation in transcription factors NeuroD1 and Pax4.". Metab. Clin. Exp. 51 (9): 1161–5. PMID 12200761.  
  • 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.  
  • Shimajiri Y, Shimabukuro M, Tomoyose T, et al. (2003). "PAX4 mutation (R121W) as a prodiabetic variant in Okinawans.". Biochem. Biophys. Res. Commun. 302 (2): 342–4. doi:10.1016/S0006-291X(03)00176-1. PMID 12604352.  
  • Scherer SW, Cheung J, MacDonald JR, et al. (2003). "Human chromosome 7: DNA sequence and biology.". Science 300 (5620): 767–72. doi:10.1126/science.1083423. PMID 12690205.  
  • Kemp DM, Lin JC, Habener JF (2003). "Regulation of Pax4 paired homeodomain gene by neuron-restrictive silencer factor.". J. Biol. Chem. 278 (37): 35057–62. doi:10.1074/jbc.M305891200. PMID 12829700.  
  • Holm P, Rydlander B, Luthman H, et al. (2004). "Interaction and association analysis of a type 1 diabetes susceptibility locus on chromosome 5q11-q13 and the 7q32 chromosomal region in Scandinavian families.". Diabetes 53 (6): 1584–91. doi:10.2337/diabetes.53.6.1584. PMID 15161765.  
  • Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.  
  • Brun T, Franklin I, St-Onge L, et al. (2005). "The diabetes-linked transcription factor PAX4 promotes {beta}-cell proliferation and survival in rat and human islets.". J. Cell Biol. 167 (6): 1123-35. doi:10.1083/jcb.200405148. PMID 15596543.  

External links

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

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