PAX5

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PAX5
Protein PAX5 PDB 1k78.png
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases PAX5, ALL3, BSAP, paired box 5
External IDs MGI: 97489 HomoloGene: 56419 GeneCards: 5079
Genetically Related Diseases
Disease Name References
hypertension
obesity
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
Ensembl
UniProt
RefSeq (mRNA)

NM_008782

RefSeq (protein)

NP_032808.1

Location (UCSC) Chr 9: 36.83 – 37.03 Mb Chr 4: 44.52 – 44.71 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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

Function[edit]

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.[3]

Clinical significance[edit]

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.[3]

Up to 97% of the Reed–Sternberg cells of Hodgkin's lymphoma express Pax-5.[4]

Interactions[edit]

PAX5 has been shown to interact with TLE4[5][6] and Death associated protein 6.[7]

See also[edit]

References[edit]

  1. ^ Adams B, Dörfler P, Aguzzi A, Kozmik Z, Urbánek P, Maurer-Fogy I, Busslinger M (Sep 1992). "Pax-5 encodes the transcription factor BSAP and is expressed in B lymphocytes, the developing CNS, and adult testis". Genes & Development 6 (9): 1589–607. doi:10.1101/gad.6.9.1589. PMID 1516825. 
  2. ^ Pilz AJ, Povey S, Gruss P, Abbott CM (March 1993). "Mapping of the human homologs of the murine paired-box-containing genes". Mammalian Genome 4 (2): 78–82. doi:10.1007/BF00290430. PMID 8431641. 
  3. ^ a b c "Entrez Gene: PAX5 paired box gene 5 (B-cell lineage specific activator)". 
  4. ^ Torlakovic E, Torlakovic G, Nguyen PL, Brunning RD, Delabie J (Oct 2002). "The value of anti-pax-5 immunostaining in routinely fixed and paraffin-embedded sections: a novel pan pre-B and B-cell marker". The American Journal of Surgical Pathology 26 (10): 1343–50. doi:10.1097/00000478-200210000-00011. PMID 12360049. 
  5. ^ 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. 
  6. ^ Milili M, Gauthier L, Veran J, Mattei MG, Schiff C (Aug 2002). "A new Groucho TLE4 protein may regulate the repressive activity of Pax5 in human B lymphocytes". Immunology 106 (4): 447–55. doi:10.1046/j.1365-2567.2002.01456.x. PMC 1782747. PMID 12153506. 
  7. ^ Emelyanov AV, Kovac CR, Sepulveda MA, Birshtein BK (Mar 2002). "The interaction of Pax5 (BSAP) with Daxx can result in transcriptional activation in B cells". The Journal of Biological Chemistry 277 (13): 11156–64. doi:10.1074/jbc.M111763200. PMID 11799127. 

Further reading[edit]

External links[edit]

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