PAX5


PAX5
Paired box 5

PDB rendering based on 1k78.
Identifiers
Symbols PAX5; BSAP
External IDs OMIM167414 MGI97489 HomoloGene56419 GeneCards: PAX5 Gene
RNA expression pattern
PBB GE PAX5 206802 at tn.png
PBB GE PAX5 221969 at tn.png
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]

Contents

Interactions

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

See also

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

External links

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


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