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{{Infobox_gene}}
{{PBB_Controls
'''Paired box protein Pax-5''' is a [[protein]] that in humans is encoded by the ''PAX5'' [[gene]].<ref name="pmid1516825">{{cite journal | vauthors = Adams B, Dörfler P, Aguzzi A, Kozmik Z, Urbánek P, Maurer-Fogy I, Busslinger M | title = Pax-5 encodes the transcription factor BSAP and is expressed in B lymphocytes, the developing CNS, and adult testis | journal = Genes & Development | volume = 6 | issue = 9 | pages = 1589–607 | date = Sep 1992 | pmid = 1516825 | pmc =  | doi = 10.1101/gad.6.9.1589 }}</ref><ref name="pmid8431641">{{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 | date = March 1993 | pmid = 8431641 | pmc =  | doi = 10.1007/BF00290430 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: PAX5 paired box gene 5 (B-cell lineage specific activator)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5079| accessdate = }}</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 = PBB_Protein_PAX5_image.jpg
| image_source = [[Protein_Data_Bank|PDB]] rendering based on 1k78.
| PDB = {{PDB2|1k78}}, {{PDB2|1mdm}}
| Name = Paired box gene 5 (B-cell lineage specific activator)
| HGNCid = 8619
| Symbol = PAX5
| AltSymbols =; BSAP
| OMIM = 167414
| ECnumber = 
| Homologene = 56419
| MGIid = 97489
| GeneAtlas_image1 = PBB_GE_PAX5_206802_at_tn.png
| GeneAtlas_image2 = PBB_GE_PAX5_221969_at_tn.png
| Function = {{GNF_GO|id=GO:0003677 |text = DNA binding}} {{GNF_GO|id=GO:0003700 |text = transcription factor activity}} {{GNF_GO|id=GO:0005515 |text = protein binding}}
| Component = {{GNF_GO|id=GO:0005634 |text = nucleus}}
| Process = {{GNF_GO|id=GO:0006350 |text = transcription}} {{GNF_GO|id=GO:0006355 |text = regulation of transcription, DNA-dependent}} {{GNF_GO|id=GO:0006366 |text = transcription from RNA polymerase II promoter}} {{GNF_GO|id=GO:0006959 |text = humoral immune response}} {{GNF_GO|id=GO:0007275 |text = multicellular organismal development}} {{GNF_GO|id=GO:0007283 |text = spermatogenesis}} {{GNF_GO|id=GO:0007399 |text = nervous system development}} {{GNF_GO|id=GO:0009887 |text = organ morphogenesis}} {{GNF_GO|id=GO:0030154 |text = cell differentiation}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 5079
    | Hs_Ensembl = ENSG00000196092
    | Hs_RefseqProtein = NP_057953
    | Hs_RefseqmRNA = NM_016734
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 9
    | Hs_GenLoc_start = 36823272
    | Hs_GenLoc_end = 37024476
    | Hs_Uniprot = Q02548
    | Mm_EntrezGene = 18507
    | Mm_Ensembl = ENSMUSG00000014030
    | Mm_RefseqmRNA = NM_008782
    | Mm_RefseqProtein = NP_032808
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 4
    | Mm_GenLoc_start = 44552606
    | Mm_GenLoc_end = 44731762
    | Mm_Uniprot = Q02650
  }}
}}
'''Paired box gene 5 (B-cell lineage specific activator)''', also known as '''PAX5''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: PAX5 paired box gene 5 (B-cell lineage specific activator)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5079| accessdate = }}</ref>


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
The PAX5 gene is a member of the [[Pax genes|paired box (PAX)]] family of transcription factors.  The central feature of this gene family is a novel, highly conserved [[DNA-binding domain]], known as the [[Pax genes|paired box]].  The PAX proteins are important regulators in early development, and alterations in the expression of their genes are thought to contribute to [[neoplastic transformation]].  The PAX5 gene encodes the [[B-cell]] lineage specific activator protein (BSAP) that is expressed at early, but not late stages of B-cell differentiation.  Its expression has also been detected in developing CNS and testis, therefore, PAX5 gene product may not only play an important role in B-cell differentiation, but also in neural development and [[spermatogenesis]].<ref name="entrez"/>
{{PBB_Summary
| section_title =
| summary_text = The PAX5 gene is a member of the paired box (PAX) family of transcription factors.  The central feature of this gene family is a novel, highly conserved DNA-binding motif, known as the paired box.  The PAX proteins are important regulators in early development, and alterations in the expression of their genes are thought to contribute to neoplastic transformation.  The PAX5 gene encodes the B-cell lineage specific activator protein (BSAP) that is expressed at early, but not late stages of B-cell differentiation.  Its expression has also been detected in developing CNS and testis, therefore, PAX5 gene product may not only play an important role in B-cell differentiation, but also in neural development and spermatogenesis.  The PAX5 gene is located in chromosome 9p13 region, which is involved in t(9;14)(p13;q32) translocations recurring in small lymphocytic lymphomas of the plasmacytoid subtype, and in derived large-cell lymphomas.  This translocation brings the potent E-mu enhancer of the IgH gene into close proximity of the PAX5 promoters, suggesting that the deregulation of PAX5 gene transcription contributes to the pathogenesis of these lymphomas.  A transcript variant arising as a consequence of alternative promoter usage, and containing a different coding exon 1(B), has been described, however, its full-length nature is not known.<ref name="entrez">{{cite web | title = Entrez Gene: PAX5 paired box gene 5 (B-cell lineage specific activator)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5079| accessdate = }}</ref>
}}


==See also==
== Clinical significance ==
 
The PAX5 gene is located in chromosome 9p13 region, which is involved in t(9;14)(p13;q32) translocations recurring in small [[B-cell chronic lymphocytic leukemia|lymphocytic lymphomas]] of the [[plasmacytoid]] subtype, and in derived large-cell lymphomas.  This translocation brings the potent E-mu enhancer of the [[IGH@|IgH gene locus]] into close proximity of the PAX5 promoters, suggesting that the deregulation of PAX5 gene transcription contributes to the [[pathogenesis]] of these lymphomas.<ref name="entrez"/>
 
Up to 97% of the [[Reed–Sternberg cell]]s of [[Hodgkin's lymphoma]] express Pax-5.<ref name=pmid12360049>{{cite journal | vauthors = Torlakovic E, Torlakovic G, Nguyen PL, Brunning RD, Delabie J | title = The value of anti-pax-5 immunostaining in routinely fixed and paraffin-embedded sections: a novel pan pre-B and B-cell marker | journal = The American Journal of Surgical Pathology | volume = 26 | issue = 10 | pages = 1343–50 | date = Oct 2002 | pmc =  | doi = 10.1097/00000478-200210000-00011 | pmid = 12360049 }}</ref>
 
== Interactions ==
 
PAX5 has been shown to [[Protein-protein interaction|interact]] with [[TLE4]]<ref name=pmid10811620>{{cite journal | vauthors = Eberhard D, Jiménez G, Heavey B, Busslinger M | title = Transcriptional repression by Pax5 (BSAP) through interaction with corepressors of the Groucho family | journal = The EMBO Journal | volume = 19 | issue = 10 | pages = 2292–303 | date = May 2000 | pmid = 10811620 | pmc = 384353 | doi = 10.1093/emboj/19.10.2292 }}</ref><ref name=pmid12153506>{{cite journal | vauthors = Milili M, Gauthier L, Veran J, Mattei MG, Schiff C | title = A new Groucho TLE4 protein may regulate the repressive activity of Pax5 in human B lymphocytes | journal = Immunology | volume = 106 | issue = 4 | pages = 447–55 | date = Aug 2002 | pmid = 12153506 | pmc = 1782747 | doi = 10.1046/j.1365-2567.2002.01456.x }}</ref> and [[Death associated protein 6]].<ref name=pmid11799127>{{cite journal | vauthors = Emelyanov AV, Kovac CR, Sepulveda MA, Birshtein BK | title = The interaction of Pax5 (BSAP) with Daxx can result in transcriptional activation in B cells | journal = The Journal of Biological Chemistry | volume = 277 | issue = 13 | pages = 11156–64 | date = Mar 2002 | pmid = 11799127 | doi = 10.1074/jbc.M111763200 }}</ref>
 
== See also ==
* [[Pax genes]]
* [[Pax genes]]


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


==Further reading==
== Further reading ==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading
* {{cite journal | vauthors = Hagman J, Wheat W, Fitzsimmons D, Hodsdon W, Negri J, Dizon F | title = Pax-5/BSAP: regulator of specific gene expression and differentiation in B lymphocytes | journal = Current Topics in Microbiology and Immunology | volume = 245 | issue = 1 | pages = 169–94 | year = 1999 | pmid = 10533313 | doi =  }}
| citations =
* {{cite journal | vauthors = Calame KL, Lin KI, Tunyaplin C | title = Regulatory mechanisms that determine the development and function of plasma cells | journal = Annual Review of Immunology | volume = 21 | issue =  | pages = 205–30 | year = 2003 | pmid = 12524387 | doi = 10.1146/annurev.immunol.21.120601.141138 }}
*{{cite journal | author=Hagman J, Wheat W, Fitzsimmons D, ''et al.'' |title=Pax-5/BSAP: regulator of specific gene expression and differentiation in B lymphocytes. |journal=Curr. Top. Microbiol. Immunol. |volume=245 |issue= 1 |pages= 169-94 |year= 1999 |pmid= 10533313 |doi=  }}
* {{cite journal | vauthors = Carotta S, Holmes ML, Pridans C, Nutt SL | title = Pax5 maintains cellular identity by repressing gene expression throughout B cell differentiation | journal = Cell Cycle | volume = 5 | issue = 21 | pages = 2452–6 | date = Nov 2006 | pmid = 17102626 | doi = 10.4161/cc.5.21.3396 }}
*{{cite journal | author=Calame KL, Lin KI, Tunyaplin C |title=Regulatory mechanisms that determine the development and function of plasma cells. |journal=Annu. Rev. Immunol. |volume=21 |issue=  |pages= 205-30 |year= 2003 |pmid= 12524387 |doi= 10.1146/annurev.immunol.21.120601.141138 }}
* {{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=Carotta S, Holmes ML, Pridans C, Nutt SL |title=Pax5 maintains cellular identity by repressing gene expression throughout B cell differentiation. |journal=Cell Cycle |volume=5 |issue= 21 |pages= 2452-6 |year= 2007 |pmid= 17102626 |doi= }}
* {{cite journal | vauthors = Busslinger M, Klix N, Pfeffer P, Graninger PG, Kozmik Z | title = Deregulation of PAX-5 by translocation of the Emu enhancer of the IgH locus adjacent to two alternative PAX-5 promoters in a diffuse large-cell lymphoma | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 93 | issue = 12 | pages = 6129–34 | date = Jun 1996 | pmid = 8650231 | pmc = 39201 | doi = 10.1073/pnas.93.12.6129 }}
*{{cite journal  | author=Adams B, Dörfler P, Aguzzi A, ''et al.'' |title=Pax-5 encodes the transcription factor BSAP and is expressed in B lymphocytes, the developing CNS, and adult testis. |journal=Genes Dev. |volume=6 |issue= 9 |pages= 1589-607 |year= 1992 |pmid= 1516825 |doi=  }}
* {{cite journal | vauthors = Iida S, Rao PH, Nallasivam P, Hibshoosh H, Butler M, Louie DC, Dyomin V, Ohno H, Chaganti RS, Dalla-Favera R | title = The t(9;14)(p13;q32) chromosomal translocation associated with lymphoplasmacytoid lymphoma involves the PAX-5 gene | journal = Blood | volume = 88 | issue = 11 | pages = 4110–7 | date = Dec 1996 | pmid = 8943844 | 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 = Kaneko H, Ariyasu T, Inoue R, Fukao T, Kasahara K, Teramoto T, Matsui E, Hayakawa S, Kondo N | title = Expression of Pax5 gene in human haematopoietic cells and tissues: comparison with immunodeficient donors | journal = Clinical and Experimental Immunology | volume = 111 | issue = 2 | pages = 339–44 | date = Feb 1998 | pmid = 9486401 | pmc = 1904901 | doi = 10.1046/j.1365-2249.1998.00509.x }}
*{{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 = Verkoczy LK, Berinstein NL | title = Isolation of genes negatively or positively co-expressed with human recombination activating gene 1 (RAG1) by differential display PCR (DD RT-PCR) | journal = Nucleic Acids Research | volume = 26 | issue = 19 | pages = 4497–507 | date = Oct 1998 | pmid = 9742255 | pmc = 147860 | doi = 10.1093/nar/26.19.4497 }}
*{{cite journal  | author=Busslinger M, Klix N, Pfeffer P, ''et al.'' |title=Deregulation of PAX-5 by translocation of the Emu enhancer of the IgH locus adjacent to two alternative PAX-5 promoters in a diffuse large-cell lymphoma. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=93 |issue= 12 |pages= 6129-34 |year= 1996 |pmid= 8650231 |doi= }}
* {{cite journal | vauthors = Wheat W, Fitzsimmons D, Lennox H, Krautkramer SR, Gentile LN, McIntosh LP, Hagman J | title = The highly conserved beta-hairpin of the paired DNA-binding domain is required for assembly of Pax-Ets ternary complexes | journal = Molecular and Cellular Biology | volume = 19 | issue = 3 | pages = 2231–41 | date = Mar 1999 | pmid = 10022910 | pmc = 84016 | doi =  10.1128/mcb.19.3.2231}}
*{{cite journal | author=Iida S, Rao PH, Nallasivam P, ''et al.'' |title=The t(9;14)(p13;q32) chromosomal translocation associated with lymphoplasmacytoid lymphoma involves the PAX-5 gene. |journal=Blood |volume=88 |issue= 11 |pages= 4110-7 |year= 1996 |pmid= 8943844 |doi=  }}
* {{cite journal | vauthors = Eberhard D, Busslinger M | title = The partial homeodomain of the transcription factor Pax-5 (BSAP) is an interaction motif for the retinoblastoma and TATA-binding proteins | journal = Cancer Research | volume = 59 | issue = 7 Suppl | pages = 1716s–1724s; discussion 1724s–1725s | date = Apr 1999 | pmid = 10197586 | doi =  }}
*{{cite journal | author=Kaneko H, Ariyasu T, Inoue R, ''et al.'' |title=Expression of Pax5 gene in human haematopoietic cells and tissues: comparison with immunodeficient donors. |journal=Clin. Exp. Immunol. |volume=111 |issue= 2 |pages= 339-44 |year= 1998 |pmid= 9486401 |doi= }}
* {{cite journal | vauthors = Libermann TA, Pan Z, Akbarali Y, Hetherington CJ, Boltax J, Yergeau DA, Zhang DE | title = AML1 (CBFalpha2) cooperates with B cell-specific activating protein (BSAP/PAX5) in activation of the B cell-specific BLK gene promoter | journal = The Journal of Biological Chemistry | volume = 274 | issue = 35 | pages = 24671–6 | date = Aug 1999 | pmid = 10455134 | doi = 10.1074/jbc.274.35.24671 }}
*{{cite journal | author=Verkoczy LK, Berinstein NL |title=Isolation of genes negatively or positively co-expressed with human recombination activating gene 1 (RAG1) by differential display PCR (DD RT-PCR). |journal=Nucleic Acids Res. |volume=26 |issue= 19 |pages= 4497-507 |year= 1998 |pmid= 9742255 |doi= }}
* {{cite journal | vauthors = Nutt SL, Heavey B, Rolink AG, Busslinger M | title = Commitment to the B-lymphoid lineage depends on the transcription factor Pax5 | journal = Nature | volume = 401 | issue = 6753 | pages = 556–62 | date = Oct 1999 | pmid = 10524622 | doi = 10.1038/44076 }}
*{{cite journal | author=Wheat W, Fitzsimmons D, Lennox H, ''et al.'' |title=The highly conserved beta-hairpin of the paired DNA-binding domain is required for assembly of Pax-Ets ternary complexes. |journal=Mol. Cell. Biol. |volume=19 |issue= 3 |pages= 2231-41 |year= 1999 |pmid= 10022910 |doi=  }}
* {{cite journal | vauthors = Rolink AG, Nutt SL, Melchers F, Busslinger M | title = Long-term in vivo reconstitution of T-cell development by Pax5-deficient B-cell progenitors | journal = Nature | volume = 401 | issue = 6753 | pages = 603–6 | date = Oct 1999 | pmid = 10524629 | doi = 10.1038/44164 }}
*{{cite journal | author=Eberhard D, Busslinger M |title=The partial homeodomain of the transcription factor Pax-5 (BSAP) is an interaction motif for the retinoblastoma and TATA-binding proteins. |journal=Cancer Res. |volume=59 |issue= 7 Suppl |pages= 1716s-1724s; discussion 1724s-1725s |year= 1999 |pmid= 10197586 |doi=  }}
* {{cite journal | vauthors = Kovac CR, Emelyanov A, Singh M, Ashouian N, Birshtein BK | title = BSAP (Pax5)-importin alpha 1 (Rch1) interaction identifies a nuclear localization sequence | journal = The Journal of Biological Chemistry | volume = 275 | issue = 22 | pages = 16752–7 | date = Jun 2000 | pmid = 10748034 | doi = 10.1074/jbc.M001551200 }}
*{{cite journal | author=Libermann TA, Pan Z, Akbarali Y, ''et al.'' |title=AML1 (CBFalpha2) cooperates with B cell-specific activating protein (BSAP/PAX5) in activation of the B cell-specific BLK gene promoter. |journal=J. Biol. Chem. |volume=274 |issue= 35 |pages= 24671-6 |year= 1999 |pmid= 10455134 |doi= }}
* {{cite journal | vauthors = Eberhard D, Jiménez G, Heavey B, Busslinger M | title = Transcriptional repression by Pax5 (BSAP) through interaction with corepressors of the Groucho family | journal = The EMBO Journal | volume = 19 | issue = 10 | pages = 2292–303 | date = May 2000 | pmid = 10811620 | pmc = 384353 | doi = 10.1093/emboj/19.10.2292 }}
*{{cite journal | author=Nutt SL, Heavey B, Rolink AG, Busslinger M |title=Commitment to the B-lymphoid lineage depends on the transcription factor Pax5. |journal=Nature |volume=401 |issue= 6753 |pages= 556-62 |year= 1999 |pmid= 10524622 |doi= 10.1038/44076 }}
* {{cite journal | vauthors = Roberts EC, Deed RW, Inoue T, Norton JD, Sharrocks AD | title = Id helix-loop-helix proteins antagonize pax transcription factor activity by inhibiting DNA binding | journal = Molecular and Cellular Biology | volume = 21 | issue = 2 | pages = 524–33 | date = Jan 2001 | pmid = 11134340 | pmc = 86614 | doi = 10.1128/MCB.21.2.524-533.2001 }}
*{{cite journal | author=Rolink AG, Nutt SL, Melchers F, Busslinger M |title=Long-term in vivo reconstitution of T-cell development by Pax5-deficient B-cell progenitors. |journal=Nature |volume=401 |issue= 6753 |pages= 603-6 |year= 1999 |pmid= 10524629 |doi= 10.1038/44164 }}
* {{cite journal | vauthors = Pasqualucci L, Neumeister P, Goossens T, Nanjangud G, Chaganti RS, Küppers R, Dalla-Favera R | title = Hypermutation of multiple proto-oncogenes in B-cell diffuse large-cell lymphomas | journal = Nature | volume = 412 | issue = 6844 | pages = 341–6 | date = Jul 2001 | pmid = 11460166 | doi = 10.1038/35085588 }}
*{{cite journal | author=Kovac CR, Emelyanov A, Singh M, ''et al.'' |title=BSAP (Pax5)-importin alpha 1 (Rch1) interaction identifies a nuclear localization sequence. |journal=J. Biol. Chem. |volume=275 |issue= 22 |pages= 16752-7 |year= 2000 |pmid= 10748034 |doi= 10.1074/jbc.M001551200 }}
*{{cite journal | author=Eberhard D, Jiménez G, Heavey B, Busslinger M |title=Transcriptional repression by Pax5 (BSAP) through interaction with corepressors of the Groucho family. |journal=EMBO J. |volume=19 |issue= 10 |pages= 2292-303 |year= 2000 |pmid= 10811620 |doi= 10.1093/emboj/19.10.2292 }}
*{{cite journal | author=Roberts EC, Deed RW, Inoue T, ''et al.'' |title=Id helix-loop-helix proteins antagonize pax transcription factor activity by inhibiting DNA binding. |journal=Mol. Cell. Biol. |volume=21 |issue= 2 |pages= 524-33 |year= 2001 |pmid= 11134340 |doi= 10.1128/MCB.21.2.524-533.2001 }}
*{{cite journal | author=Pasqualucci L, Neumeister P, Goossens T, ''et al.'' |title=Hypermutation of multiple proto-oncogenes in B-cell diffuse large-cell lymphomas. |journal=Nature |volume=412 |issue= 6844 |pages= 341-6 |year= 2001 |pmid= 11460166 |doi= 10.1038/35085588 }}
}}
{{refend}}
{{refend}}


== External links ==
== External links ==
* {{MeshName|PAX5+protein,+human}}
* {{MeshName|PAX5+protein,+human}}
* {{FactorBook|PAX5}}


{{NLM content}}
{{NLM content}}
{{protein-stub}}
 
{{Transcription factors}}
{{PDB Gallery|geneid=5079}}
{{Transcription factors|g3}}
 
[[Category:Transcription factors]]
[[Category:Transcription factors]]
{{WikiDoc Sources}}

Latest revision as of 01:48, 27 October 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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View/Edit Human

Paired box protein Pax-5 is a protein that in humans is encoded by the PAX5 gene.[1][2][3]

Function

The PAX5 gene is a member of the paired box (PAX) family of transcription factors. The central feature of this gene family is a novel, highly conserved DNA-binding domain, known as the paired box. The PAX proteins are important regulators in early development, and alterations in the expression of their genes are thought to contribute to neoplastic transformation. The PAX5 gene encodes the B-cell lineage specific activator protein (BSAP) that is expressed at early, but not late stages of B-cell differentiation. Its expression has also been detected in developing CNS and testis, therefore, PAX5 gene product may not only play an important role in B-cell differentiation, but also in neural development and spermatogenesis.[3]

Clinical significance

The PAX5 gene is located in chromosome 9p13 region, which is involved in t(9;14)(p13;q32) translocations recurring in small lymphocytic lymphomas of the plasmacytoid subtype, and in derived large-cell lymphomas. This translocation brings the potent E-mu enhancer of the IgH gene locus into close proximity of the PAX5 promoters, suggesting that the deregulation of PAX5 gene transcription contributes to the pathogenesis of these lymphomas.[3]

Up to 97% of the Reed–Sternberg cells of Hodgkin's lymphoma express Pax-5.[4]

Interactions

PAX5 has been shown to interact with TLE4[5][6] and Death associated protein 6.[7]

See also

References

  1. ↑ Adams B, Dörfler P, Aguzzi A, Kozmik Z, Urbánek P, Maurer-Fogy I, Busslinger M (Sep 1992). "Pax-5 encodes the transcription factor BSAP and is expressed in B lymphocytes, the developing CNS, and adult testis". Genes & Development. 6 (9): 1589–607. doi:10.1101/gad.6.9.1589. PMID 1516825.
  2. ↑ Pilz AJ, Povey S, Gruss P, Abbott CM (March 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.
  3. ↑ 3.0 3.1 3.2 "Entrez Gene: PAX5 paired box gene 5 (B-cell lineage specific activator)".
  4. ↑ Torlakovic E, Torlakovic G, Nguyen PL, Brunning RD, Delabie J (Oct 2002). "The value of anti-pax-5 immunostaining in routinely fixed and paraffin-embedded sections: a novel pan pre-B and B-cell marker". The American Journal of Surgical Pathology. 26 (10): 1343–50. doi:10.1097/00000478-200210000-00011. PMID 12360049.
  5. ↑ Eberhard D, Jiménez G, Heavey B, Busslinger M (May 2000). "Transcriptional repression by Pax5 (BSAP) through interaction with corepressors of the Groucho family". The EMBO Journal. 19 (10): 2292–303. doi:10.1093/emboj/19.10.2292. PMC 384353. PMID 10811620.
  6. ↑ Milili M, Gauthier L, Veran J, Mattei MG, Schiff C (Aug 2002). "A new Groucho TLE4 protein may regulate the repressive activity of Pax5 in human B lymphocytes". Immunology. 106 (4): 447–55. doi:10.1046/j.1365-2567.2002.01456.x. PMC 1782747. PMID 12153506.
  7. ↑ Emelyanov AV, Kovac CR, Sepulveda MA, Birshtein BK (Mar 2002). "The interaction of Pax5 (BSAP) with Daxx can result in transcriptional activation in B cells". The Journal of Biological Chemistry. 277 (13): 11156–64. doi:10.1074/jbc.M111763200. PMID 11799127.

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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