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{{ | '''Paired box gene 4''', also known as '''PAX4''', is a [[protein]] which in humans is encoded by the ''PAX4'' [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: PAX4 paired box gene 4| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5078| accessdate = }}</ref><ref name="pmid9439631">{{cite journal | vauthors = Matsushita T, Yamaoka T, Otsuka S, Moritani M, Matsumoto T, Itakura M | title = Molecular cloning of mouse paired-box-containing gene (Pax)-4 from an islet beta cell line and deduced sequence of human Pax-4 | journal = Biochemical and Biophysical Research Communications | volume = 242 | issue = 1 | pages = 176–80 | date = Jan 1998 | pmid = 9439631 | doi = 10.1006/bbrc.1997.7935 }}</ref><ref name="pmid9480859">{{cite journal | vauthors = Inoue H, Nomiyama J, Nakai K, Matsutani A, Tanizawa Y, Oka Y | title = Isolation of full-length cDNA of mouse PAX4 gene and identification of its human homologue | journal = Biochemical and Biophysical Research Communications | volume = 243 | issue = 2 | pages = 628–33 | date = Feb 1998 | pmid = 9480859 | doi = 10.1006/bbrc.1998.8144 }}</ref> | ||
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== Function == | |||
This gene is a member of the paired box ([[pax genes|PAX]]) family of [[transcription factor]]s. Members of this gene family typically contain a paired box domain, an octa[[peptide]], 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]].<ref name="entrez" /> | |||
==See also== | == See also == | ||
* [[Pax genes]] | * [[Pax genes]] | ||
* [[Maturity onset diabetes of the young]] type 9 | |||
==References== | == References == | ||
{{reflist | {{reflist}} | ||
==Further reading== | == Further reading == | ||
{{refbegin | 2}} | {{refbegin | 2}} | ||
{{ | * {{cite journal | vauthors = Al-Hasani K, Pfeifer A, Courtney M, Ben-Othman N, Gjernes E, Vieira A, Druelle N, Avolio F, Ravassard P, Leuckx G, Lacas-Gervais S, Ambrosetti D, Benizri E, Hecksher-Sorensen J, Gounon P, Ferrer J, Gradwohl G, Heimberg H, Mansouri A, Collombat P | title = Adult duct-lining cells can reprogram into β-like cells able to counter repeated cycles of toxin-induced diabetes | journal = Developmental Cell | volume = 26 | issue = 1 | pages = 86–100 | date = Jul 2013 | pmid = 23810513 | doi = 10.1016/j.devcel.2013.05.018 }} | ||
| | * {{cite journal | vauthors = Collombat P, Xu X, Ravassard P, Sosa-Pineda B, Dussaud S, Billestrup N, Madsen OD, Serup P, Heimberg H, Mansouri A | title = The ectopic expression of Pax4 in the mouse pancreas converts progenitor cells into alpha and subsequently beta cells | journal = Cell | volume = 138 | issue = 3 | pages = 449–62 | date = Aug 2009 | pmid = 19665969 | pmc = 2792203 | doi = 10.1016/j.cell.2009.05.035 }} | ||
*{{cite journal | * {{cite journal | vauthors = Sosa-Pineda B | title = The gene Pax4 is an essential regulator of pancreatic beta-cell development | journal = Molecules and Cells | volume = 18 | issue = 3 | pages = 289–94 | date = Dec 2004 | pmid = 15650323 | doi = }} | ||
*{{cite journal | * {{cite journal | vauthors = Stapleton P, Weith A, Urbánek P, Kozmik Z, Busslinger M | title = Chromosomal localization of seven PAX genes and cloning of a novel family member, PAX-9 | journal = Nature Genetics | volume = 3 | issue = 4 | pages = 292–8 | date = Apr 1993 | pmid = 7981748 | doi = 10.1038/ng0493-292 }} | ||
*{{cite journal | * {{cite journal | vauthors = Tamura T, Izumikawa Y, Kishino T, Soejima H, Jinno Y, Niikawa N | title = Assignment of the human PAX4 gene to chromosome band 7q32 by fluorescence in situ hybridization | journal = Cytogenetics and Cell Genetics | volume = 66 | issue = 2 | pages = 132–4 | year = 1994 | pmid = 8287686 | doi = 10.1159/000133684 }} | ||
*{{cite journal | * {{cite journal | vauthors = Pilz AJ, Povey S, Gruss P, Abbott CM | title = Mapping of the human homologs of the murine paired-box-containing genes | journal = Mammalian Genome | volume = 4 | issue = 2 | pages = 78–82 | year = 1993 | pmid = 8431641 | doi = 10.1007/BF00290430 }} | ||
*{{cite journal | * {{cite journal | vauthors = Matsushita T, Yamaoka T, Otsuka S, Moritani M, Matsumoto T, Itakura M | title = Molecular cloning of mouse paired-box-containing gene (Pax)-4 from an islet beta cell line and deduced sequence of human Pax-4 | journal = Biochemical and Biophysical Research Communications | volume = 242 | issue = 1 | pages = 176–80 | date = Jan 1998 | pmid = 9439631 | doi = 10.1006/bbrc.1997.7935 }} | ||
*{{cite journal | * {{cite journal | vauthors = Inoue H, Nomiyama J, Nakai K, Matsutani A, Tanizawa Y, Oka Y | title = Isolation of full-length cDNA of mouse PAX4 gene and identification of its human homologue | journal = Biochemical and Biophysical Research Communications | volume = 243 | issue = 2 | pages = 628–33 | date = Feb 1998 | pmid = 9480859 | doi = 10.1006/bbrc.1998.8144 }} | ||
*{{cite journal | * {{cite journal | vauthors = Bonthron DT, Dunlop N, Barr DG, El Sanousi AA, Al-Gazali LI | title = Organisation of the human PAX4 gene and its exclusion as a candidate for the Wolcott-Rallison syndrome | journal = Journal of Medical Genetics | volume = 35 | issue = 4 | pages = 288–92 | date = Apr 1998 | pmid = 9598721 | pmc = 1051275 | doi = 10.1136/jmg.35.4.288 }} | ||
*{{cite journal | * {{cite journal | vauthors = Tao T, Wasson J, Bernal-Mizrachi E, Behn PS, Chayen S, Duprat L, Meyer J, Glaser B, Permutt MA | title = Isolation and characterization of the human PAX4 gene | journal = Diabetes | volume = 47 | issue = 10 | pages = 1650–3 | date = Oct 1998 | pmid = 9753306 | doi = 10.2337/diabetes.47.10.1650 }} | ||
*{{cite journal | * {{cite journal | vauthors = Smith SB, Watada H, Scheel DW, Mrejen C, German MS | title = Autoregulation and maturity onset diabetes of the young transcription factors control the human PAX4 promoter | journal = The Journal of Biological Chemistry | volume = 275 | issue = 47 | pages = 36910–9 | date = Nov 2000 | pmid = 10967107 | doi = 10.1074/jbc.M005202200 }} | ||
*{{cite journal | * {{cite journal | vauthors = Miyamoto T, Kakizawa T, Ichikawa K, Nishio S, Kajikawa S, Hashizume K | title = Expression of dominant negative form of PAX4 in human insulinoma | journal = Biochemical and Biophysical Research Communications | volume = 282 | issue = 1 | pages = 34–40 | date = Mar 2001 | pmid = 11263967 | doi = 10.1006/bbrc.2001.4552 }} | ||
*{{cite journal | * {{cite journal | vauthors = Shimajiri Y, Sanke T, Furuta H, Hanabusa T, Nakagawa T, Fujitani Y, Kajimoto Y, Takasu N, Nanjo K | title = A missense mutation of Pax4 gene (R121W) is associated with type 2 diabetes in Japanese | journal = Diabetes | volume = 50 | issue = 12 | pages = 2864–9 | date = Dec 2001 | pmid = 11723072 | doi = 10.2337/diabetes.50.12.2864 }} | ||
*{{cite journal | * {{cite journal | vauthors = Kanatsuka A, Tokuyama Y, Nozaki O, Matsui K, Egashira T | title = Beta-cell dysfunction in late-onset diabetic subjects carrying homozygous mutation in transcription factors NeuroD1 and Pax4 | journal = Metabolism | volume = 51 | issue = 9 | pages = 1161–5 | date = Sep 2002 | pmid = 12200761 | doi = 10.1053/meta.2002.34707 }} | ||
* {{cite journal | vauthors = Shimajiri Y, Shimabukuro M, Tomoyose T, Yogi H, Komiya I, Takasu N | title = PAX4 mutation (R121W) as a prodiabetic variant in Okinawans | journal = Biochemical and Biophysical Research Communications | volume = 302 | issue = 2 | pages = 342–4 | date = Mar 2003 | pmid = 12604352 | doi = 10.1016/S0006-291X(03)00176-1 }} | |||
*{{cite journal | * {{cite journal | vauthors = Kemp DM, Lin JC, Habener JF | title = Regulation of Pax4 paired homeodomain gene by neuron-restrictive silencer factor | journal = The Journal of Biological Chemistry | volume = 278 | issue = 37 | pages = 35057–62 | date = Sep 2003 | pmid = 12829700 | doi = 10.1074/jbc.M305891200 }} | ||
* {{cite journal | vauthors = Holm P, Rydlander B, Luthman H, Kockum I | title = Interaction and association analysis of a type 1 diabetes susceptibility locus on chromosome 5q11-q13 and the 7q32 chromosomal region in Scandinavian families | journal = Diabetes | volume = 53 | issue = 6 | pages = 1584–91 | date = Jun 2004 | pmid = 15161765 | doi = 10.2337/diabetes.53.6.1584 | author5 = European Consortium for IDDM Genome Studies }} | |||
*{{cite journal | * {{cite journal | vauthors = Brun T, Franklin I, St-Onge L, Biason-Lauber A, Schoenle EJ, Wollheim CB, Gauthier BR | title = The diabetes-linked transcription factor PAX4 promotes {beta}-cell proliferation and survival in rat and human islets | journal = The Journal of Cell Biology | volume = 167 | issue = 6 | pages = 1123–35 | date = Dec 2004 | pmid = 15596543 | pmc = 2172618 | doi = 10.1083/jcb.200405148 }} | ||
*{{cite journal | |||
*{{cite journal | |||
}} | |||
{{refend}} | {{refend}} | ||
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{{NLM content}} | {{NLM content}} | ||
{{ | {{gene-7-stub}} | ||
{{Transcription factors}} | {{Transcription factors|g3}} | ||
[[Category:Transcription factors]] | [[Category:Transcription factors]] | ||
Latest revision as of 17:36, 7 September 2017
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External IDs | GeneCards: [1] | ||||||
Orthologs | |||||||
Species | Human | Mouse | |||||
Entrez |
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Ensembl |
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UniProt |
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RefSeq (mRNA) |
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RefSeq (protein) |
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Location (UCSC) | n/a | n/a | |||||
PubMed search | n/a | n/a | |||||
Wikidata | |||||||
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Paired box gene 4, also known as PAX4, is a protein which in humans is encoded by the PAX4 gene.[1][2][3]
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
- ↑ 1.0 1.1 "Entrez Gene: PAX4 paired box gene 4".
- ↑ Matsushita T, Yamaoka T, Otsuka S, Moritani M, Matsumoto T, Itakura M (Jan 1998). "Molecular cloning of mouse paired-box-containing gene (Pax)-4 from an islet beta cell line and deduced sequence of human Pax-4". Biochemical and Biophysical Research Communications. 242 (1): 176–80. doi:10.1006/bbrc.1997.7935. PMID 9439631.
- ↑ Inoue H, Nomiyama J, Nakai K, Matsutani A, Tanizawa Y, Oka Y (Feb 1998). "Isolation of full-length cDNA of mouse PAX4 gene and identification of its human homologue". Biochemical and Biophysical Research Communications. 243 (2): 628–33. doi:10.1006/bbrc.1998.8144. PMID 9480859.
Further reading
- Al-Hasani K, Pfeifer A, Courtney M, Ben-Othman N, Gjernes E, Vieira A, Druelle N, Avolio F, Ravassard P, Leuckx G, Lacas-Gervais S, Ambrosetti D, Benizri E, Hecksher-Sorensen J, Gounon P, Ferrer J, Gradwohl G, Heimberg H, Mansouri A, Collombat P (Jul 2013). "Adult duct-lining cells can reprogram into β-like cells able to counter repeated cycles of toxin-induced diabetes". Developmental Cell. 26 (1): 86–100. doi:10.1016/j.devcel.2013.05.018. PMID 23810513.
- Collombat P, Xu X, Ravassard P, Sosa-Pineda B, Dussaud S, Billestrup N, Madsen OD, Serup P, Heimberg H, Mansouri A (Aug 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. PMC 2792203. PMID 19665969.
- Sosa-Pineda B (Dec 2004). "The gene Pax4 is an essential regulator of pancreatic beta-cell development". Molecules and Cells. 18 (3): 289–94. PMID 15650323.
- Stapleton P, Weith A, Urbánek P, Kozmik Z, Busslinger M (Apr 1993). "Chromosomal localization of seven PAX genes and cloning of a novel family member, PAX-9". Nature Genetics. 3 (4): 292–8. doi:10.1038/ng0493-292. PMID 7981748.
- Tamura T, Izumikawa Y, Kishino T, Soejima H, Jinno Y, Niikawa N (1994). "Assignment of the human PAX4 gene to chromosome band 7q32 by fluorescence in situ hybridization". Cytogenetics and Cell Genetics. 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". Mammalian Genome. 4 (2): 78–82. doi:10.1007/BF00290430. PMID 8431641.
- Matsushita T, Yamaoka T, Otsuka S, Moritani M, Matsumoto T, Itakura M (Jan 1998). "Molecular cloning of mouse paired-box-containing gene (Pax)-4 from an islet beta cell line and deduced sequence of human Pax-4". Biochemical and Biophysical Research Communications. 242 (1): 176–80. doi:10.1006/bbrc.1997.7935. PMID 9439631.
- Inoue H, Nomiyama J, Nakai K, Matsutani A, Tanizawa Y, Oka Y (Feb 1998). "Isolation of full-length cDNA of mouse PAX4 gene and identification of its human homologue". Biochemical and Biophysical Research Communications. 243 (2): 628–33. doi:10.1006/bbrc.1998.8144. PMID 9480859.
- Bonthron DT, Dunlop N, Barr DG, El Sanousi AA, Al-Gazali LI (Apr 1998). "Organisation of the human PAX4 gene and its exclusion as a candidate for the Wolcott-Rallison syndrome". Journal of Medical Genetics. 35 (4): 288–92. doi:10.1136/jmg.35.4.288. PMC 1051275. PMID 9598721.
- Tao T, Wasson J, Bernal-Mizrachi E, Behn PS, Chayen S, Duprat L, Meyer J, Glaser B, Permutt MA (Oct 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, Mrejen C, German MS (Nov 2000). "Autoregulation and maturity onset diabetes of the young transcription factors control the human PAX4 promoter". The Journal of Biological Chemistry. 275 (47): 36910–9. doi:10.1074/jbc.M005202200. PMID 10967107.
- Miyamoto T, Kakizawa T, Ichikawa K, Nishio S, Kajikawa S, Hashizume K (Mar 2001). "Expression of dominant negative form of PAX4 in human insulinoma". Biochemical and Biophysical Research Communications. 282 (1): 34–40. doi:10.1006/bbrc.2001.4552. PMID 11263967.
- Shimajiri Y, Sanke T, Furuta H, Hanabusa T, Nakagawa T, Fujitani Y, Kajimoto Y, Takasu N, Nanjo K (Dec 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, Matsui K, Egashira T (Sep 2002). "Beta-cell dysfunction in late-onset diabetic subjects carrying homozygous mutation in transcription factors NeuroD1 and Pax4". Metabolism. 51 (9): 1161–5. doi:10.1053/meta.2002.34707. PMID 12200761.
- Shimajiri Y, Shimabukuro M, Tomoyose T, Yogi H, Komiya I, Takasu N (Mar 2003). "PAX4 mutation (R121W) as a prodiabetic variant in Okinawans". Biochemical and Biophysical Research Communications. 302 (2): 342–4. doi:10.1016/S0006-291X(03)00176-1. PMID 12604352.
- Kemp DM, Lin JC, Habener JF (Sep 2003). "Regulation of Pax4 paired homeodomain gene by neuron-restrictive silencer factor". The Journal of Biological Chemistry. 278 (37): 35057–62. doi:10.1074/jbc.M305891200. PMID 12829700.
- Holm P, Rydlander B, Luthman H, Kockum I (Jun 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.
- Brun T, Franklin I, St-Onge L, Biason-Lauber A, Schoenle EJ, Wollheim CB, Gauthier BR (Dec 2004). "The diabetes-linked transcription factor PAX4 promotes {beta}-cell proliferation and survival in rat and human islets". The Journal of Cell Biology. 167 (6): 1123–35. doi:10.1083/jcb.200405148. PMC 2172618. PMID 15596543.
External links
- PAX4+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH)
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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