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PAX5 (paired box gene 5)

Identity

Other namesBSAP (B-cell lineage specific activator protein)
HGNC (Hugo) PAX5
Location 9p13
Location_base_pair Starts at 37002657 and ends at 37020662 bp from pter ( according to hg19-Feb_2009)  [Mapping]

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
HGNC (Hugo)PAX5   8619
Entrez_Gene (NCBI)PAX5  5079  paired box 5
Cards
AtlasPAX5ID62
GeneCards (Weizmann)PAX5
Ensembl (Hinxton)ENSG00000196092 [Gene_View]  PAX5 [Vega]
AceView (NCBI)PAX5
Genatlas (Paris)PAX5
euGene (Indiana)5079
SOURCE (Stanford)NM_016734
Gene Expression (Array Express) ENSG00000196092
Genomic and cartography
GoldenPath (UCSC)PAX5  -  9p13   chr9:37002657-37020662 -  9p13   [Description]    (hg19-Feb_2009)
EnsemblPAX5 - 9p13 [CytoView]
Mapping of homologs : NCBIPAX5 [Mapview]
OMIM167414   
Gene and transcription
Gene : Genbank (Entrez)AF080573 AY463952 AY463953 AY463954 AY463955
Reference sequence (RefSeq transcript) :SRSNM_016734
Reference transcript : EntrezNM_016734
RefSeq genomic : SRSAC_000052 AC_000141 NC_000009 NT_008413 NW_001839151 NW_924062
RefSeq genomic : EntrezAC_000052 AC_000141 NC_000009 NT_008413 NW_001839151 NW_924062
Consensus coding sequences : CCDS NCBIPAX5
Cluster EST : UnigeneHs.654464 [ SRS ] Hs.654464 [ NCBI ]
Alternative Splicing : Fast-db (Paris)7269
Protein : pattern, domain, 3D structure
Protein : UniProt/SwissProtQ02548 (SRS) Q02548 (Expasy) Q02548 (Uniprot)
With graphics : InterProQ02548
Splice isoforms : VarSplice FASTAQ02548(VarSplice FASTA)
Domaine pattern : Prosite (SRS)PAIRED_1 (PS00034)    PAIRED_2 (PS51057)   
Domain 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 SRSPAX (PF00292)    Pax2_C (PF12403)   
Domain families : Pfam SangerPAX (PF00292)    Pax2_C (PF12403)   
Domain families : Pfam NCBIpfam00292    pfam12403   
Domain families : Smart EMBLPAX (SM00351)  
Blocks (Seattle)Q02548
Crystal structure of protein : PDB SRS1K78    1MDM   
Crystal structure of protein : PDBSum1K78    1MDM   
Crystal structure of protein : IMB1K78    1MDM   
Crystal structure of protein : PDB RSDB1K78    1MDM   
Human Protein AtlasENSG00000196092
HPRD01334
Protein Interaction databases
DIP (DOE-UCLA)Q02548
IntAct (EBI)Q02548
FunCoupENSG00000196092
Polymorphism : SNP, mutations, diseases
Single Nucleotide Polymorphism (SNP) : dbSNP NCBIPAX5
SNP : GeneSNP UtahPAX5
SNP : HGBasePAX5
Genetic variants : HAPMAPPAX5
Cancer Gene: CensusPAX5 
Somatic Mutations in Cancer : COSMICPAX5 
Translocation Breakpoints in Cancer : TICdbPAX5 
Mutations and Diseases : HGMDPAX5
Hereditary diseases : OMIM167414   
Hereditary diseases : GENETests167414   
Diseases : Genetic AssociationPAX5
General knowledge
Homologs : HomoloGenePAX5
Homology/Alignments : Family Browser UCSCPAX5
Phylogenetic Trees/Animal Genes : TreeFamPAX5
Chemical/Protein Interactions : CTD5079
Keywords Ontology : AmiGOnegative regulation of transcription from RNA polymerase II promoter  transcription factor activity  protein binding  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  
Keywords Ontology : EGO-EBInegative regulation of transcription from RNA polymerase II promoter  transcription factor activity  protein binding  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  
Pathways : BIOCARTA
Pathways : KEGG
Other databases
Probes
Probes : ImagenesPAX5 Related clones (RZPD - Berlin)
Literature
PubMed71 Pubmed reference(s) in Entrez
PubGenePAX5

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

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indexed on : Tue Aug 31 20:04:04 CEST 2010

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