PAX5

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

PAX5
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1K78, 1MDM
Identifiers
Aliases	PAX5, ALL3, BSAP, paired box 5, PAX-5
External IDs	OMIM: 167414; MGI: 97489; HomoloGene: 56419; GeneCards: PAX5; OMA:PAX5 - orthologs
Gene location (Human) Chr. Chromosome 9 (human) Band 9p13.2 Start 36,833,269 bp End 37,034,268 bp
Gene location (Mouse) Chr. Chromosome 4 (mouse) Band 4 B1|4 23.55 cM Start 44,524,757 bp End 44,710,487 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in buccal mucosa cell epithelium of nasopharynx lymph node appendix bone marrow cells spleen mucosa of ileum granulocyte blood tonsil Top expressed in spleen mesenteric lymph nodes blood female urethra substantia nigra lumbar subsegment of spinal cord secondary oocyte zygote granulocyte lumbar spinal ganglion More reference expression data BioGPS More reference expression data
Gene ontology Molecular function DNA binding DNA-binding transcription factor activity DNA-binding transcription activator activity, RNA polymerase II-specific RNA polymerase II cis-regulatory region sequence-specific DNA binding protein binding DNA-binding transcription factor activity, RNA polymerase II-specific Cellular component nucleus fibrillar center cytosol intracellular membrane-bounded organelle nucleoplasm Biological process cell differentiation regulation of transcription, DNA-templated lateral ventricle development ageing negative regulation of transcription by RNA polymerase II transcription, DNA-templated nervous system development multicellular organism development adult behavior humoral immune response spermatogenesis negative regulation of histone H3-K9 methylation cerebral cortex development animal organ morphogenesis skeletal muscle cell differentiation embryonic cranial skeleton morphogenesis positive regulation of transcription by RNA polymerase II transcription by RNA polymerase II regulation of B cell receptor signaling pathway Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 5079 18507 Ensembl ENSG00000196092 ENSMUSG00000014030 UniProt Q02548 Q02650 RefSeq (mRNA) NM_001280547 NM_001280548 NM_001280549 NM_001280550 NM_001280551 NM_001280552 NM_001280553 NM_001280554 NM_001280555 NM_001280556 NM_016734 NM_008782 RefSeq (protein) NP_001267476 NP_001267477 NP_001267478 NP_001267479 NP_001267480 NP_001267481 NP_001267482 NP_001267483 NP_001267484 NP_001267485 NP_057953 NP_001267480.1 NP_032808 Location (UCSC) Chr 9: 36.83 – 37.03 Mb Chr 4: 44.52 – 44.71 Mb PubMed search
Wikidata
View/Edit Human View/Edit Mouse

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

• 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. doi:10.1007/978-3-642-57066-7_5. ISBN 978-3-642-63017-0. 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. doi:10.1146/annurev.immunol.21.120601.141138. 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. doi:10.4161/cc.5.21.3396. hdl:20.500.11820/32181dc9-83a3-496f-be53-c380d717da39. 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. doi:10.1038/ng0493-292. PMID 7981748. 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. Bibcode:1996PNAS...93.6129B. doi:10.1073/pnas.93.12.6129. PMC 39201. 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. doi:10.1182/blood.V88.11.4110.4110. 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. doi:10.1046/j.1365-2249.1998.00509.x. PMC 1904901. 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. doi:10.1093/nar/26.19.4497. PMC 147860. 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. doi:10.1128/mcb.19.3.2231. PMC 84016. 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. doi:10.1074/jbc.274.35.24671. 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. Bibcode:1999Natur.401..556N. doi:10.1038/44076. PMID 10524622. 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. Bibcode:1999Natur.401..603R. doi:10.1038/44164. PMID 10524629. 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. doi:10.1074/jbc.M001551200. 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. doi:10.1093/emboj/19.10.2292. PMC 384353. 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. doi:10.1128/MCB.21.2.524-533.2001. PMC 86614. 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. Bibcode:2001Natur.412..341P. doi:10.1038/35085588. PMID 11460166. 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.