PAX4: Difference between revisions

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<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{Infobox_gene}}
{{PBB_Controls
'''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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<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
== Function ==
{{GNF_Protein_box
| image =
| image_source =
| PDB =
| Name = Paired box gene 4
| HGNCid = 8618
| Symbol = PAX4
| AltSymbols =; MGC129960
| OMIM = 167413
| ECnumber = 
| Homologene = 4515
| MGIid = 97488
| GeneAtlas_image1 = PBB_GE_PAX4_207867_at_tn.png
| GeneAtlas_image2 = PBB_GE_PAX4_211176_s_at_tn.png
| Function = {{GNF_GO|id=GO:0003700 |text = transcription factor activity}} {{GNF_GO|id=GO:0043565 |text = sequence-specific DNA binding}}
| Component = {{GNF_GO|id=GO:0005634 |text = nucleus}}
| Process = {{GNF_GO|id=GO:0006355 |text = regulation of transcription, DNA-dependent}} {{GNF_GO|id=GO:0007275 |text = multicellular organismal development}} {{GNF_GO|id=GO:0009887 |text = organ morphogenesis}} {{GNF_GO|id=GO:0030154 |text = cell differentiation}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 5078
    | Hs_Ensembl = ENSG00000106331
    | Hs_RefseqProtein = NP_006184
    | Hs_RefseqmRNA = NM_006193
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 7
    | Hs_GenLoc_start = 127037582
    | Hs_GenLoc_end = 127043218
    | Hs_Uniprot = 
    | Mm_EntrezGene = 18506
    | Mm_Ensembl = ENSMUSG00000029706
    | Mm_RefseqmRNA = NM_011038
    | Mm_RefseqProtein = NP_035168
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 6
    | Mm_GenLoc_start = 28392388
    | Mm_GenLoc_end = 28396789
    | Mm_Uniprot = Q9EQ02
  }}
}}
'''Paired box gene 4''', also known as '''PAX4''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: PAX4 paired box gene 4| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5078| accessdate = }}</ref>


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
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" />
{{PBB_Summary
| section_title =
| summary_text = 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.<ref name="entrez">{{cite web | title = Entrez Gene: PAX4 paired box gene 4| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5078| accessdate = }}</ref>
}}


==See also==
== See also ==
* [[Pax genes]]
* [[Pax genes]]
* [[Maturity onset diabetes of the young]] type 9


==References==
== References ==
{{reflist|2}}
{{reflist}}


==Further reading==
== Further reading ==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading
* {{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 }}
| citations =  
* {{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 | author=Sosa-Pineda B |title=The gene Pax4 is an essential regulator of pancreatic beta-cell development. |journal=Mol. Cells |volume=18 |issue= 3 |pages= 289-94 |year= 2005 |pmid= 15650323 |doi=  }}
* {{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 | author=Stapleton P, Weith A, Urbánek P, ''et al.'' |title=Chromosomal localization of seven PAX genes and cloning of a novel family member, PAX-9. |journal=Nat. Genet. |volume=3 |issue= 4 |pages= 292-8 |year= 1995 |pmid= 7981748 |doi= 10.1038/ng0493-292 }}
* {{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 | author=Tamura T, Izumikawa Y, Kishino T, ''et al.'' |title=Assignment of the human PAX4 gene to chromosome band 7q32 by fluorescence in situ hybridization. |journal=Cytogenet. Cell Genet. |volume=66 |issue= 2 |pages= 132-4 |year= 1994 |pmid= 8287686 |doi= }}
* {{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 | author=Pilz AJ, Povey S, Gruss P, Abbott CM |title=Mapping of the human homologs of the murine paired-box-containing genes. |journal=Mamm. Genome |volume=4 |issue= 2 |pages= 78-82 |year= 1993 |pmid= 8431641 |doi= }}
* {{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 | author=Matsushita T, Yamaoka T, Otsuka S, ''et al.'' |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=Biochem. Biophys. Res. Commun. |volume=242 |issue= 1 |pages= 176-80 |year= 1998 |pmid= 9439631 |doi= 10.1006/bbrc.1997.7935 }}
* {{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 | author=Inoue H, Nomiyama J, Nakai K, ''et al.'' |title=Isolation of full-length cDNA of mouse PAX4 gene and identification of its human homologue. |journal=Biochem. Biophys. Res. Commun. |volume=243 |issue= 2 |pages= 628-33 |year= 1998 |pmid= 9480859 |doi= 10.1006/bbrc.1998.8144 }}
* {{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 | author=Bonthron DT, Dunlop N, Barr DG, ''et al.'' |title=Organisation of the human PAX4 gene and its exclusion as a candidate for the Wolcott-Rallison syndrome. |journal=J. Med. Genet. |volume=35 |issue= 4 |pages= 288-92 |year= 1998 |pmid= 9598721 |doi= }}
* {{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 | author=Tao T, Wasson J, Bernal-Mizrachi E, ''et al.'' |title=Isolation and characterization of the human PAX4 gene. |journal=Diabetes |volume=47 |issue= 10 |pages= 1650-3 |year= 1998 |pmid= 9753306 |doi= }}
* {{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 | author=Smith SB, Watada H, Scheel DW, ''et al.'' |title=Autoregulation and maturity onset diabetes of the young transcription factors control the human PAX4 promoter. |journal=J. Biol. Chem. |volume=275 |issue= 47 |pages= 36910-9 |year= 2001 |pmid= 10967107 |doi= 10.1074/jbc.M005202200 }}
* {{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 | author=Miyamoto T, Kakizawa T, Ichikawa K, ''et al.'' |title=Expression of dominant negative form of PAX4 in human insulinoma. |journal=Biochem. Biophys. Res. Commun. |volume=282 |issue= 1 |pages= 34-40 |year= 2001 |pmid= 11263967 |doi= 10.1006/bbrc.2001.4552 }}
* {{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 | author=Shimajiri Y, Sanke T, Furuta H, ''et al.'' |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 |year= 2001 |pmid= 11723072 |doi= }}
* {{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 | author=Kanatsuka A, Tokuyama Y, Nozaki O, ''et al.'' |title=Beta-cell dysfunction in late-onset diabetic subjects carrying homozygous mutation in transcription factors NeuroD1 and Pax4. |journal=Metab. Clin. Exp. |volume=51 |issue= 9 |pages= 1161-5 |year= 2002 |pmid= 12200761 |doi=  }}
* {{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  | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
* {{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 | author=Shimajiri Y, Shimabukuro M, Tomoyose T, ''et al.'' |title=PAX4 mutation (R121W) as a prodiabetic variant in Okinawans. |journal=Biochem. Biophys. Res. Commun. |volume=302 |issue= 2 |pages= 342-4 |year= 2003 |pmid= 12604352 |doi=  }}
* {{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  | author=Scherer SW, Cheung J, MacDonald JR, ''et al.'' |title=Human chromosome 7: DNA sequence and biology. |journal=Science |volume=300 |issue= 5620 |pages= 767-72 |year= 2003 |pmid= 12690205 |doi= 10.1126/science.1083423 }}
* {{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 | author=Kemp DM, Lin JC, Habener JF |title=Regulation of Pax4 paired homeodomain gene by neuron-restrictive silencer factor. |journal=J. Biol. Chem. |volume=278 |issue= 37 |pages= 35057-62 |year= 2003 |pmid= 12829700 |doi= 10.1074/jbc.M305891200 }}
* {{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 | author=Holm P, Rydlander B, Luthman H, ''et al.'' |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 |year= 2004 |pmid= 15161765 |doi= }}
*{{cite journal  | author=Gerhard DS, Wagner L, Feingold EA, ''et al.'' |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121-7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 }}
*{{cite journal | author=Brun T, Franklin I, St-Onge L, ''et al.'' |title=The diabetes-linked transcription factor PAX4 promotes {beta}-cell proliferation and survival in rat and human islets. |journal=J. Cell Biol. |volume=167 |issue= 6 |pages= 1123-35 |year= 2005 |pmid= 15596543 |doi= 10.1083/jcb.200405148 }}
}}
{{refend}}
{{refend}}


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{{NLM content}}
{{NLM content}}
{{protein-stub}}
{{gene-7-stub}}
{{Transcription factors}}
{{Transcription factors|g3}}
[[Category:Transcription factors]]
[[Category:Transcription factors]]
{{WikiDoc Sources}}

Latest revision as of 17:36, 7 September 2017

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
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/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

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. ↑ 1.0 1.1 "Entrez Gene: PAX4 paired box gene 4".
  2. ↑ 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.
  3. ↑ 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

External links

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

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