PAX5
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Paired box protein Pax-5 is a protein that in humans is encoded by the PAX5 gene.[5][6][7]
Function
The PAX5 gene is a member of 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.[7]
Clinical significance
The PAX5 gene is located in chromosome 9p13 region, which is involved in t(9;14)(p13;q32) translocations recurring in small
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.[7]
Up to 97% of the
Hodgkin's lymphoma express Pax-5.[8]
Interactions
PAX5 has been shown to
Death associated protein 6.[11]
See also
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000196092 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000014030 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- PMID 1516825.
- S2CID 30845070.
- ^ a b c "Entrez Gene: PAX5 paired box gene 5 (B-cell lineage specific activator)".
- S2CID 7703197.
- PMID 10811620.
- PMID 12153506.
- PMID 11799127.
Further reading
- Hagman J, Wheat W, Fitzsimmons D, Hodsdon W, Negri J, Dizon F (1999). "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. Vol. 245. pp. 169–94. PMID 10533313.
- Calame KL, Lin KI, Tunyaplin C (2003). "Regulatory mechanisms that determine the development and function of plasma cells". Annual Review of Immunology. 21: 205–30. PMID 12524387.
- Carotta S, Holmes ML, Pridans C, Nutt SL (Nov 2006). "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, 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. S2CID 21338655.
- Busslinger M, Klix N, Pfeffer P, Graninger PG, Kozmik Z (Jun 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". Proceedings of the National Academy of Sciences of the United States of America. 93 (12): 6129–34. PMID 8650231.
- Iida S, Rao PH, Nallasivam P, Hibshoosh H, Butler M, Louie DC, Dyomin V, Ohno H, Chaganti RS, Dalla-Favera R (Dec 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, Fukao T, Kasahara K, Teramoto T, Matsui E, Hayakawa S, Kondo N (Feb 1998). "Expression of Pax5 gene in human haematopoietic cells and tissues: comparison with immunodeficient donors". Clinical and Experimental Immunology. 111 (2): 339–44. PMID 9486401.
- Verkoczy LK, Berinstein NL (Oct 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 Research. 26 (19): 4497–507. PMID 9742255.
- Wheat W, Fitzsimmons D, Lennox H, Krautkramer SR, Gentile LN, McIntosh LP, Hagman J (Mar 1999). "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. PMID 10022910.
- Eberhard D, Busslinger M (Apr 1999). "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. PMID 10197586.
- Libermann TA, Pan Z, Akbarali Y, Hetherington CJ, Boltax J, Yergeau DA, Zhang DE (Aug 1999). "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. PMID 10455134.
- Nutt SL, Heavey B, Rolink AG, Busslinger M (Oct 1999). "Commitment to the B-lymphoid lineage depends on the transcription factor Pax5". Nature. 401 (6753): 556–62. S2CID 4414876.
- Rolink AG, Nutt SL, Melchers F, Busslinger M (Oct 1999). "Long-term in vivo reconstitution of T-cell development by Pax5-deficient B-cell progenitors". Nature. 401 (6753): 603–6. S2CID 12257992.
- Kovac CR, Emelyanov A, Singh M, Ashouian N, Birshtein BK (Jun 2000). "BSAP (Pax5)-importin alpha 1 (Rch1) interaction identifies a nuclear localization sequence". The Journal of Biological Chemistry. 275 (22): 16752–7. PMID 10748034.
- 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. PMID 10811620.
- Roberts EC, Deed RW, Inoue T, Norton JD, Sharrocks AD (Jan 2001). "Id helix-loop-helix proteins antagonize pax transcription factor activity by inhibiting DNA binding". Molecular and Cellular Biology. 21 (2): 524–33. PMID 11134340.
- Pasqualucci L, Neumeister P, Goossens T, Nanjangud G, Chaganti RS, Küppers R, Dalla-Favera R (Jul 2001). "Hypermutation of multiple proto-oncogenes in B-cell diffuse large-cell lymphomas". Nature. 412 (6844): 341–6. S2CID 4373198.
External links
- PAX5+protein,+human at the U.S. 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.
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