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PAX5 (paired box gene 5)

Identity

Other namesBSAP (B-cell lineage specific activator protein)
HGNC PAX5
Location 9p13

DNA/RNA

Description The PAX5 coding region extends over a genomic interval of approximately 200kb and comprises 10 exons.
Transcription Two alternative transcripts have been identified, originating from alternative promotor usage, containing exon 1A or 1B; full length mRNA is 3650bp; transcription is from centromere to telomere.

Protein

Description 391 amino acids, 42 kDa, PAX5 belongs to the paired box family of transcription factors, contains a paired box (DNA binding) domain, a truncated homeo domain homology region, and a transactivation domain.
Expression B lymphocytes, the developing CNS, and adult testis.
Localisation Nuclear
Function Involved in a multitude of developmental processes, PAX5 expression is not only continuously required for B cell lineage commitment during early B cell development but also for B lineage maintenance, involved in the regulation of the CD19 gene, a B-lymphoid-specific target gene.

Implicated in

Entity t(9;14)(p13;q23) lymphoproliferative disorders
Hybrid/Mutated Gene PAX5 - IGH juxtaposition
  
Entity dic(9;12)(p13;p13) acute lymphoblastic leukemia
Hybrid/Mutated Gene PAX5 - ETV6
  

Breakpoints

 

External links

Nomenclature
HGNCPAX5   8619
Entrez_GenePAX5  5079  paired box 5
Cards
AtlasPAX5ID62
GeneCardsPAX5
EnsemblPAX5 [Search_View]   ENSG00000196092 [Gene_View]
GenatlasPAX5
GeneLynxPAX5
eGenomePAX5
euGene5079
Genomic and cartography
GoldenPathPAX5  -  9p13   chr9:36828531-37024476 -  9p13.2   [Description]    (hg18-Mar_2006)
EnsemblPAX5 - 9p13.2 [CytoView]
NCBIMapview
OMIMDisease map [OMIM]
HomoloGenePAX5
Gene and transcription
GenbankAF080573 [ ENTREZ ]
GenbankAY463952 [ ENTREZ ]
GenbankAY463953 [ ENTREZ ]
GenbankAY463954 [ ENTREZ ]
GenbankAY463955 [ ENTREZ ]
RefSeqNM_016734 [ SRS ]    NM_016734 [ ENTREZ ]
RefSeqAC_000052 [ SRS ]    AC_000052 [ ENTREZ ]
RefSeqAC_000141 [ SRS ]    AC_000141 [ ENTREZ ]
RefSeqNC_000009 [ SRS ]    NC_000009 [ ENTREZ ]
RefSeqNT_008413 [ SRS ]    NT_008413 [ ENTREZ ]
RefSeqNW_001839151 [ SRS ]    NW_001839151 [ ENTREZ ]
RefSeqNW_924062 [ SRS ]    NW_924062 [ ENTREZ ]
AceViewPAX5 AceView - NCBI
UnigeneHs.684503 [ SRS ]    Hs.684503 [ NCBI ]     HS684503 [ spliceNest ]
Fast-db7269 (alternative variants)
Protein : pattern, domain, 3D structure
SwissProtQ02548 [ SRS]    Q02548 [ EXPASY ]     Q02548 [ INTERPRO ]     Q02548 [ UNIPROT ]
PrositePS00034 PAIRED_1 [ SRS ]    PS00034 PAIRED_1 [ Expasy ]
PrositePS51057 PAIRED_2 [ SRS ]    PS51057 PAIRED_2 [ Expasy ]
InterproIPR001523 Paired_box_N [ SRS ]    IPR001523 Paired_box_N [ EBI ]
InterproIPR011991 Wing_hlx_DNA_bd [ SRS ]    IPR011991 Wing_hlx_DNA_bd [ EBI ]
CluSTrQ02548
PfamPF00292 PAX [ SRS ]    PF00292 PAX [ Sanger ]    pfam00292 [ NCBI-CDD ]
SmartSM00351 PAX [EMBL]
BlocksQ02548
PDB1K78 [ SRS ]    1K78 [ PdbSum ],   1K78 [ IMB ]   1K78 [ RSDB ]
PDB1MDM [ SRS ]    1MDM [ PdbSum ],   1MDM [ IMB ]   1MDM [ RSDB ]
HPRD01334
Protein Interaction databases
DIPQ02548
IntActQ02548
Polymorphism : SNP, mutations, diseases
OMIM167414    [ map ]   
GENECLINICS167414
SNPPAX5 [dbSNP-NCBI]  
SNPNM_016734 [SNP-NCI]  
SNPPAX5 [GeneSNPs - Utah]  PAX5] [HGBASE - SRS]
HAPMAPPAX5 [HAPMAP]  
COSMICPAX5 [Somatic mutation (COSMIC-CGP-Sanger)]  
TICdbPAX5 [Translocation breakpoints In Cancer]  
HGMDPAX5
General knowledge
Family BrowserPAX5 [UCSC Family Browser]
SOURCENM_016734
SMDHs.684503
SAGEHs.684503
GODNA binding [Amigo]  DNA binding
GOnucleus [Amigo]  nucleus
GOregulation of transcription, DNA-dependent [Amigo]  regulation of transcription, DNA-dependent
GOtranscription from RNA polymerase II promoter [Amigo]  transcription from RNA polymerase II promoter
GOhumoral immune response [Amigo]  humoral immune response
GOmulticellular organismal development [Amigo]  multicellular organismal development
GOmulticellular organismal development [Amigo]  multicellular organismal development
GOspermatogenesis [Amigo]  spermatogenesis
GOnervous system development [Amigo]  nervous system development
GOorgan morphogenesis [Amigo]  organ morphogenesis
GOcell differentiation [Amigo]  cell differentiation
PubGenePAX5
TreeFamPAX5
CTD5079 [Comparative ToxicoGenomics Database]
Other databases
Probes
ProbePAX5 Related clones (RZPD - Berlin)
PubMed
PubMed47 Pubmed reference(s) in Entrez

Bibliography

A novel B-cell lineage-specific transcription factor present at early but not late stages of differentiation.
Barberis A, Widenhorn K, Vitelli L, Busslinger M
Genes & development. 1990 ; 4 (5) : 849-859.
PMID 2116362
 
t(9;14)(p13;q32) denotes a subset of low-grade non-Hodgkin's lymphoma with plasmacytoid differentiation.
Offit K, Parsa NZ, Filippa D, Jhanwar SC, Chaganti RS
Blood. 1992 ; 80 (10) : 2594-2599.
PMID 1384792
 
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.
Busslinger M, Klix N, Pfeffer P, Graninger PG, Kozmik Z
Proceedings of the National Academy of Sciences of the United States of America. 1996 ; 93 (12) : 6129-6134.
PMID 8650231
 
The t(9;14)(p13;q32) chromosomal translocation associated with lymphoplasmacytoid lymphoma involves the PAX-5 gene.
Iida S, Rao PH, Nallasivam P, Hibshoosh H, Butler M, Louie DC, Dyomin V, Ohno H, Chaganti RS, Dalla-Favera R
Blood. 1996 ; 88 (11) : 4110-4117.
PMID 8943844
 
Essential functions of Pax5 (BSAP) in pro-B cell development: difference between fetal and adult B lymphopoiesis and reduced V-to-DJ recombination at the IgH locus.
Nutt SL, Urbnek P, Rolink A, Busslinger M
Genes & development. 1997 ; 11 (4) : 476-491.
PMID 9042861
 
Expression of the PAX5/BSAP transcription factor in haematological tumour cells and further molecular characterization of the t(9;14)(p13;q32) translocation in B-cell non-Hodgkin's lymphoma.
Hamada T, Yonetani N, Ueda C, Maesako Y, Akasaka H, Akasaka T, Ohno H, Kawakami K, Amakawa R, Okuma M
British journal of haematology. 1998 ; 102 (3) : 691-700.
PMID 9722295
 
Commitment to the B-lymphoid lineage depends on the transcription factor Pax5.
Nutt SL, Heavey B, Rolink AG, Busslinger M
Nature. 1999 ; 401 (6753) : 556-562.
PMID 10524622
 
The t(9;14)(p13;q32) translocation in B-cell non-Hodgkin's lymphoma.
Ohno H, Ueda C, Akasaka T
Leukemia & lymphoma. 2000 ; 36 (5-6) : 435-445.
PMID 10784387
 
The paired box domain gene PAX5 is fused to ETV6/TEL in an acute lymphoblastic leukemia case.
Cazzaniga G, Daniotti M, Tosi S, Giudici G, Aloisi A, Pogliani E, Kearney L, Biondi A
Cancer research. 2001 ; 61 (12) : 4666-4670.
PMID 11406533
 
Reversion of B cell commitment upon loss of Pax5 expression.
Mikkola I, Heavey B, Horcher M, Busslinger M
Science (New York, N.Y.). 2002 ; 297 (5578) : 110-113.
PMID 12098702
 
Transcriptional control of B-cell development.
Schebesta M, Heavey B, Busslinger M
Current opinion in immunology. 2002 ; 14 (2) : 216-223.
PMID 11869895
 
Pax5 promotes B lymphopoiesis and blocks T cell development by repressing Notch1.
Souabni A, Cobaleda C, Schebesta M, Busslinger M
Immunity. 2002 ; 17 (6) : 781-793.
PMID 12479824
 
Pax5 is required for recombination of transcribed, acetylated, 5' IgH V gene segments.
Hesslein DG, Pflugh DL, Chowdhury D, Bothwell AL, Sen R, Schatz DG
Genes & development. 2003 ; 17 (1) : 37-42.
PMID 12514097
 
PAX5/ETV6 fusion defines cytogenetic entity dic(9;12)(p13;p13).
Strehl S, Knig M, Dworzak MN, Kalwak K, Haas OA
Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 2003 ; 17 (6) : 1121-1123.
PMID 12764378
 
Transcriptional control of early B cell development.
Busslinger M
Annual review of immunology. 2004 ; 22 : 55-79.
PMID 15032574
 
Pax5 induces V-to-DJ rearrangements and locus contraction of the immunoglobulin heavy-chain gene.
Fuxa M, Skok J, Souabni A, Salvagiotto G, Roldan E, Busslinger M
Genes & development. 2004 ; 18 (4) : 411-422.
PMID 15004008
 
PAX5 expression in acute leukemias: higher B-lineage specificity than CD79a and selective association with t(8;21)-acute myelogenous leukemia.
Tiacci E, Pileri S, Orleth A, Pacini R, Tabarrini A, Frenguelli F, Liso A, Diverio D, Lo-Coco F, Falini B
Cancer research. 2004 ; 64 (20) : 7399-7404.
PMID 15492262
 
PAX5/IGH rearrangement is a recurrent finding in a subset of aggressive B-NHL with complex chromosomal rearrangements.
Poppe B, De Paepe P, Michaux L, Dastugue N, Bastard C, Herens C, Moreau E, Cavazzini F, Yigit N, Van Limbergen H, De Paepe A, Praet M, De Wolf-Peeters C, Wlodarska I, Speleman F
Genes, chromosomes & cancer. 2005 ; 44 (2) : 218-223.
PMID 15942942
 
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Contributor(s)

Written01-2004Sabine Strehl
Updated08-2005Sabine Strehl

Citation

This paper should be referenced as such :
Strehl S . PAX5 (paired box gene 5). Atlas Genet Cytogenet Oncol Haematol. January 2004 .
URL : http://AtlasGeneticsOncology.org/Genes/PAX5ID62.html
Strehl S . PAX5 (paired box gene 5). Atlas Genet Cytogenet Oncol Haematol. August 2005 .
URL : http://AtlasGeneticsOncology.org/Genes/PAX5ID62.html

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Sep 29 18:43:49 2008


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