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PAX5 (paired box gene 5)

Identity

Other namesBSAP (B-cell lineage specific activator protein)
HGNC (Hugo) PAX5
LocusID (NCBI) 5079
Location 9p13
Location_base_pair Starts at 36838531 and ends at 37034476 bp from pter ( according to hg19-Feb_2009)  [Mapping]

DNA/RNA

Description The PAX5 coding region extends over a genomic interval of approximately 200 kb 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 3650 bp; 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
HGNC (Hugo)PAX5   8619
Entrez_Gene (NCBI)PAX5  5079  paired box 5
Cards
AtlasPAX5ID62
GeneCards (Weizmann)PAX5
Ensembl (Hinxton)ENSG00000196092 [Gene_View]  chr9:36838531-37034476 [Contig_View]  PAX5 [Vega]
AceView (NCBI)PAX5
Genatlas (Paris)PAX5
euGene (Indiana)5079
SOURCE (Stanford)NM_016734
Genomic and cartography
GoldenPath (UCSC)PAX5  -  9p13   chr9:36838531-37034476 -  9p13   [Description]    (hg19-Feb_2009)
EnsemblPAX5 - 9p13 [CytoView]
Mapping of homologs : NCBIPAX5 [Mapview]
OMIM167414   
Gene and transcription
Genbank (Entrez)AF080573 AY463952 AY463953 AY463954 AY463955
RefSeq transcript (SRS)NM_016734
RefSeq transcript (Entrez)NM_016734
RefSeq genomic (SRS)AC_000141 NC_000009 NT_008413 NW_001839151
RefSeq genomic (Entrez)AC_000141 NC_000009 NT_008413 NW_001839151
Consensus coding sequences : CCDS (NCBI)PAX5
Cluster EST : UnigeneHs.654464 [ SRS ] Hs.654464 [ NCBI ]
Alternative Splicing : Fast-db (Paris)7269
Alternative Splicing GalleryENSG00000196092
Gene ExpressionPAX5 [ NCBI-GEO ]   PAX5 [ EBI - ARRAY_EXPRESS ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ02548 (SRS) Q02548 (Uniprot)
With graphics : InterProQ02548
Splice isoforms : SwissVarQ02548(Swissvar)
Domaine pattern : Prosite (SRS)PAIRED_1 (PS00034)    PAIRED_2 (PS51057)   
Domaine pattern : Prosite (Expaxy)PAIRED_1 (PS00034)    PAIRED_2 (PS51057)   
Domains : Interpro (SRS)Homeodomain-like    Paired_box_N    Pax2_C    WHTH_trsnscrt_rep_DNA-bd   
Domains : Interpro (EBI)Homeodomain-like    Paired_box_N    Pax2_C    WHTH_trsnscrt_rep_DNA-bd   
Related proteins : CluSTrQ02548
Domain families : Pfam (SRS)PAX (PF00292)    Pax2_C (PF12403)   
Domain families : Pfam (Sanger)PAX (PF00292)    Pax2_C (PF12403)   
Domain families : Pfam (NCBI)pfam00292    pfam12403   
Domain families : Smart (EMBL)PAX (SM00351)  
Blocks (Seattle)Q02548
PDB (SRS)1K78    1MDM   
PDB (PDBSum)1K78    1MDM   
PDB (IMB)1K78    1MDM   
PDB (RSDB)1K78    1MDM   
Human Protein AtlasENSG00000196092
HPRD01334
IPIIPI00026209   IPI00815658   IPI00929199   IPI00554620   IPI00437171   IPI00973553   IPI00437172   IPI00437169   IPI00437168   IPI00929668   IPI00941332   IPI00985158   IPI00980894   IPI00977401   IPI00929705   IPI00929236   IPI00973580   
Protein Interaction databases
DIP (DOE-UCLA)Q02548
IntAct (EBI)Q02548
FunCoupENSG00000196092
REACTOMEPAX5
BioGRIDPAX5
InParanoidQ02548
Interologous Interaction database Q02548
Polymorphism : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)PAX5
SNP (GeneSNP Utah)PAX5
SNP : HGBasePAX5
Genetic variants : HAPMAPPAX5
Cancer Gene: CensusPAX5 
Somatic Mutations in Cancer : COSMICPAX5 
CONAN: Copy Number AnalysisPAX5 
Rearrangement : COSMICJAK2 [9p24.1]  -  PAX5 [9p13.2]
Rearrangement : COSMICPAX5 [9p13.2]  -  JAK2 [9p24.1]
Translocation Breakpoints in Cancer : TICdbPAX5 
Mutations and Diseases : HGMDPAX5
OMIM167414   
GENETests167414   
Disease Genetic AssociationPAX5
Huge Navigator PAX5 [HugePedia]  PAX5 [HugeCancerGEM]
Genomic VariantsPAX5
snp3D : Map Gene to Disease5079
General knowledge
Homologs : HomoloGenePAX5
Homology/Alignments : Family Browser (UCSC)PAX5
Phylogenetic Trees/Animal Genes : TreeFamPAX5
Chemical/Protein Interactions : CTD5079
Chemical/Pharm GKB GenePA32959
Clinical trialPAX5
Cancer Resource (Charite)ENSG00000196092
Ontology : AmiGOnegative regulation of transcription from RNA polymerase II promoter  DNA binding  sequence-specific DNA binding transcription factor activity  nucleus  regulation of transcription, DNA-dependent  transcription from RNA polymerase II promoter  humoral immune response  multicellular organismal development  spermatogenesis  nervous system development  organ morphogenesis  cell differentiation  negative regulation of histone H3-K9 methylation  
Ontology : EGO-EBInegative regulation of transcription from RNA polymerase II promoter  DNA binding  sequence-specific DNA binding transcription factor activity  nucleus  regulation of transcription, DNA-dependent  transcription from RNA polymerase II promoter  humoral immune response  multicellular organismal development  spermatogenesis  nervous system development  organ morphogenesis  cell differentiation  negative regulation of histone H3-K9 methylation  
Other databases
Probes
Probes : ImagenesPAX5 Related clones (RZPD - Berlin)
Litterature
PubMed89 Pubmed reference(s) in Entrez
PubGenePAX5
iHOPPAX5

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, Urbanek 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, Konig 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
Children's Cancer Research Institute, Kinderspitalgasse 6, A-1090 Vienna, Austria
Updated08-2005Sabine Strehl
Children's Cancer Research Institute, Kinderspitalgasse 6, A-1090 Vienna, Austria

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

This paper is referenced by INIST as such :
   [ Bibliographic record ]
http://documents.irevues.inist.fr/bitstream/2042/38249/1/08-2005-PAX5ID62.pdf   [ Bibliographic record ]

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indexed on : Sat Apr 28 14:58:49 CEST 2012

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