PAX5

Paired box 5
PDB rendering based on 1k78.
Available structures PDB 1K78, 1MDM
Identifiers
Symbols	PAX5; BSAP
External IDs	OMIM: 167414 MGI: 97489 HomoloGene: 56419 GeneCards: PAX5 Gene
Gene Ontology Molecular function • DNA binding • sequence-specific DNA binding transcription factor activity Cellular component • nucleus Biological process • negative regulation of transcription from RNA polymerase II promoter • transcription from RNA polymerase II promoter • humoral immune response • multicellular organismal development • spermatogenesis • nervous system development • organ morphogenesis • cell differentiation • negative regulation of histone H3-K9 methylation Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	5079	18507
Ensembl	ENSG00000196092	ENSMUSG00000014030
UniProt	Q02548	Q02650
RefSeq (mRNA)	NM_016734	NM_008782.2
RefSeq (protein)	NP_057953	NP_032808.1
Location (UCSC)	Chr 9: 36.83 – 37.03 Mb	Chr 4: 44.54 – 44.72 Mb
PubMed search	[1]	[2]

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

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.^[3]

Interactions

PAX5 has been shown to interact with TLE4^[4][5] and Death associated protein 6.^[6]

See also

• Pax genes

References

1. ^ Adams B, Dorfler P, Aguzzi A, Kozmik Z, Urbanek P, Maurer-Fogy I, Busslinger M (Oct 1992). "Pax-5 encodes the transcription factor BSAP and is expressed in B lymphocytes, the developing CNS, and adult testis". Genes Dev 6 (9): 1589–607. doi:10.1101/gad.6.9.1589. PMID 1516825. 
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. doi:10.1007/BF00290430. PMID 8431641. 
3. ^ ^{a b} "Entrez Gene: PAX5 paired box gene 5 (B-cell lineage specific activator)". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5079. 
4. ^ Eberhard, D; Jiménez G, Heavey B, Busslinger M (May. 2000). "Transcriptional repression by Pax5 (BSAP) through interaction with corepressors of the Groucho family". EMBO J. (ENGLAND) 19 (10): 2292–303. doi:10.1093/emboj/19.10.2292. ISSN 0261-4189. PMC 384353. PMID 10811620. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=384353. 
5. ^ Milili, Michèle; Gauthier Laurent, Veran Julie, Mattei Marie-Geneviève, Schiff Claudine (Aug. 2002). "A new Groucho TLE4 protein may regulate the repressive activity of Pax5 in human B lymphocytes". Immunology (England) 106 (4): 447–55. doi:10.1046/j.1365-2567.2002.01456.x. ISSN 0019-2805. PMC 1782747. PMID 12153506. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1782747. 
6. ^ Emelyanov, Alexander V; Kovac Cecilia R, Sepulveda Manuel A, Birshtein Barbara K (Mar. 2002). "The interaction of Pax5 (BSAP) with Daxx can result in transcriptional activation in B cells". J. Biol. Chem. (United States) 277 (13): 11156–64. doi:10.1074/jbc.M111763200. ISSN 0021-9258. PMID 11799127. 

Further reading

• Hagman J, Wheat W, Fitzsimmons D, et al. (1999). "Pax-5/BSAP: regulator of specific gene expression and differentiation in B lymphocytes.". Curr. Top. Microbiol. Immunol. 245 (1): 169–94. PMID 10533313. 
• Calame KL, Lin KI, Tunyaplin C (2003). "Regulatory mechanisms that determine the development and function of plasma cells.". Annu. Rev. Immunol. 21: 205–30. doi:10.1146/annurev.immunol.21.120601.141138. PMID 12524387. 
• Carotta S, Holmes ML, Pridans C, Nutt SL (2007). "Pax5 maintains cellular identity by repressing gene expression throughout B cell differentiation.". Cell Cycle 5 (21): 2452–6. PMID 17102626. 
• 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. 
• Busslinger M, Klix N, Pfeffer P, et al. (1996). "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.". Proc. Natl. Acad. Sci. U.S.A. 93 (12): 6129–34. doi:10.1073/pnas.93.12.6129. PMC 39201. PMID 8650231. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=39201. 
• Iida S, Rao PH, Nallasivam P, et al. (1996). "The t(9;14)(p13;q32) chromosomal translocation associated with lymphoplasmacytoid lymphoma involves the PAX-5 gene.". Blood 88 (11): 4110–7. PMID 8943844. 
• Kaneko H, Ariyasu T, Inoue R, et al. (1998). "Expression of Pax5 gene in human haematopoietic cells and tissues: comparison with immunodeficient donors.". Clin. Exp. Immunol. 111 (2): 339–44. doi:10.1046/j.1365-2249.1998.00509.x. PMC 1904901. PMID 9486401. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1904901. 
• Verkoczy LK, Berinstein NL (1998). "Isolation of genes negatively or positively co-expressed with human recombination activating gene 1 (RAG1) by differential display PCR (DD RT-PCR).". Nucleic Acids Res. 26 (19): 4497–507. doi:10.1093/nar/26.19.4497. PMC 147860. PMID 9742255. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=147860. 
• Wheat W, Fitzsimmons D, Lennox H, et al. (1999). "The highly conserved beta-hairpin of the paired DNA-binding domain is required for assembly of Pax-Ets ternary complexes.". Mol. Cell. Biol. 19 (3): 2231–41. PMC 84016. PMID 10022910. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=84016. 
• Eberhard D, Busslinger M (1999). "The partial homeodomain of the transcription factor Pax-5 (BSAP) is an interaction motif for the retinoblastoma and TATA-binding proteins.". Cancer Res. 59 (7 Suppl): 1716s–1724s; discussion 1724s–1725s. PMID 10197586. 
• Libermann TA, Pan Z, Akbarali Y, et al. (1999). "AML1 (CBFalpha2) cooperates with B cell-specific activating protein (BSAP/PAX5) in activation of the B cell-specific BLK gene promoter". J. Biol. Chem. 274 (35): 24671–6. doi:10.1074/jbc.274.35.24671. PMID 10455134. 
• Nutt SL, Heavey B, Rolink AG, Busslinger M (1999). "Commitment to the B-lymphoid lineage depends on the transcription factor Pax5". Nature 401 (6753): 556–62. doi:10.1038/44076. PMID 10524622. 
• Rolink AG, Nutt SL, Melchers F, Busslinger M (1999). "Long-term in vivo reconstitution of T-cell development by Pax5-deficient B-cell progenitors". Nature 401 (6753): 603–6. doi:10.1038/44164. PMID 10524629. 
• Kovac CR, Emelyanov A, Singh M, et al. (2000). "BSAP (Pax5)-importin alpha 1 (Rch1) interaction identifies a nuclear localization sequence". J. Biol. Chem. 275 (22): 16752–7. doi:10.1074/jbc.M001551200. PMID 10748034. 
• Eberhard D, Jiménez G, Heavey B, Busslinger M (2000). "Transcriptional repression by Pax5 (BSAP) through interaction with corepressors of the Groucho family". EMBO J. 19 (10): 2292–303. doi:10.1093/emboj/19.10.2292. PMC 384353. PMID 10811620. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=384353. 
• Roberts EC, Deed RW, Inoue T, et al. (2001). "Id helix-loop-helix proteins antagonize pax transcription factor activity by inhibiting DNA binding". Mol. Cell. Biol. 21 (2): 524–33. doi:10.1128/MCB.21.2.524-533.2001. PMC 86614. PMID 11134340. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=86614. 
• Pasqualucci L, Neumeister P, Goossens T, et al. (2001). "Hypermutation of multiple proto-oncogenes in B-cell diffuse large-cell lymphomas". Nature 412 (6844): 341–6. doi:10.1038/35085588. PMID 11460166. 

External links

• MeSH PAX5+protein,+human
• FactorBook PAX5

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