Biology:PAX5

Short description: Protein-coding gene in humans

Generic protein structure example

Paired box protein Pax-5 is a protein that in humans is encoded by the PAX5 gene.

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.

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.

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

Interactions

PAX5 has been shown to interact with TLE4 and Death associated protein 6.

See also

• Pax genes

Further reading

• "Pax-5/BSAP: Regulator of Specific Gene Expression and Differentiation in B Lymphocytes". Signal Transduction and the Coordination of B Lymphocyte Development and Function I. Current Topics in Microbiology and Immunology. 245. 1999. pp. 169–94. doi:10.1007/978-3-642-57066-7_5. ISBN 978-3-642-63017-0. 
• "Regulatory mechanisms that determine the development and function of plasma cells". Annual Review of Immunology 21: 205–30. 2003. doi:10.1146/annurev.immunol.21.120601.141138. PMID 12524387. 
• "Pax5 maintains cellular identity by repressing gene expression throughout B cell differentiation". Cell Cycle 5 (21): 2452–6. Nov 2006. doi:10.4161/cc.5.21.3396. PMID 17102626. 
• "Chromosomal localization of seven PAX genes and cloning of a novel family member, PAX-9". Nature Genetics 3 (4): 292–8. Apr 1993. doi:10.1038/ng0493-292. PMID 7981748. 
• "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". Proceedings of the National Academy of Sciences of the United States of America 93 (12): 6129–34. Jun 1996. doi:10.1073/pnas.93.12.6129. PMID 8650231. Bibcode: 1996PNAS...93.6129B. 
• "The t(9;14)(p13;q32) chromosomal translocation associated with lymphoplasmacytoid lymphoma involves the PAX-5 gene". Blood 88 (11): 4110–7. Dec 1996. doi:10.1182/blood.V88.11.4110.4110. PMID 8943844. 
• "Expression of Pax5 gene in human haematopoietic cells and tissues: comparison with immunodeficient donors". Clinical and Experimental Immunology 111 (2): 339–44. Feb 1998. doi:10.1046/j.1365-2249.1998.00509.x. PMID 9486401. 
• "Isolation of genes negatively or positively co-expressed with human recombination activating gene 1 (RAG1) by differential display PCR (DD RT-PCR)". Nucleic Acids Research 26 (19): 4497–507. Oct 1998. doi:10.1093/nar/26.19.4497. PMID 9742255. 
• "The highly conserved beta-hairpin of the paired DNA-binding domain is required for assembly of Pax-Ets ternary complexes". Molecular and Cellular Biology 19 (3): 2231–41. Mar 1999. doi:10.1128/mcb.19.3.2231. PMID 10022910. 
• "The partial homeodomain of the transcription factor Pax-5 (BSAP) is an interaction motif for the retinoblastoma and TATA-binding proteins". Cancer Research 59 (7 Suppl): 1716s–1724s; discussion 1724s–1725s. Apr 1999. PMID 10197586. 
• "AML1 (CBFalpha2) cooperates with B cell-specific activating protein (BSAP/PAX5) in activation of the B cell-specific BLK gene promoter". The Journal of Biological Chemistry 274 (35): 24671–6. Aug 1999. doi:10.1074/jbc.274.35.24671. PMID 10455134. 
• "Commitment to the B-lymphoid lineage depends on the transcription factor Pax5". Nature 401 (6753): 556–62. Oct 1999. doi:10.1038/44076. PMID 10524622. Bibcode: 1999Natur.401..556N. 
• "Long-term in vivo reconstitution of T-cell development by Pax5-deficient B-cell progenitors". Nature 401 (6753): 603–6. Oct 1999. doi:10.1038/44164. PMID 10524629. Bibcode: 1999Natur.401..603R. 
• "BSAP (Pax5)-importin alpha 1 (Rch1) interaction identifies a nuclear localization sequence". The Journal of Biological Chemistry 275 (22): 16752–7. Jun 2000. doi:10.1074/jbc.M001551200. PMID 10748034. 
• "Transcriptional repression by Pax5 (BSAP) through interaction with corepressors of the Groucho family". The EMBO Journal 19 (10): 2292–303. May 2000. doi:10.1093/emboj/19.10.2292. PMID 10811620. 
• "Id helix-loop-helix proteins antagonize pax transcription factor activity by inhibiting DNA binding". Molecular and Cellular Biology 21 (2): 524–33. Jan 2001. doi:10.1128/MCB.21.2.524-533.2001. PMID 11134340. 
• "Hypermutation of multiple proto-oncogenes in B-cell diffuse large-cell lymphomas". Nature 412 (6844): 341–6. Jul 2001. doi:10.1038/35085588. PMID 11460166. Bibcode: 2001Natur.412..341P. 

External links

• PAX5+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH)
• FactorBook PAX5
• Overview of all the structural information available in the PDB for UniProt: Q02548 (Paired box protein Pax-5) at the PDBe-KB.

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