PAX5 (paired box gene 5)

2005-08-01   Sabine Strehl 

Childrens Cancer Research Institute, Kinderspitalgasse 6, A-1090 Vienna, Austria

Identity

HGNC
LOCATION
9p13.2
LOCUSID
ALIAS
ALL3,BSAP
FUSION GENES

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.

Proteins

Atlas Image

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

Breakpoints

Atlas Image

Bibliography

Pubmed IDLast YearTitleAuthors
21163621990A novel B-cell lineage-specific transcription factor present at early but not late stages of differentiation.Barberis A et al
150325742004Transcriptional control of early B cell development.Busslinger M et al
114065332001The paired box domain gene PAX5 is fused to ETV6/TEL in an acute lymphoblastic leukemia case.Cazzaniga G et al
150040082004Pax5 induces V-to-DJ rearrangements and locus contraction of the immunoglobulin heavy-chain gene.Fuxa M et al
97222951998Expression 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 et al
125140972003Pax5 is required for recombination of transcribed, acetylated, 5' IgH V gene segments.Hesslein DG et al
89438441996The t(9;14)(p13;q32) chromosomal translocation associated with lymphoplasmacytoid lymphoma involves the PAX-5 gene.Iida S et al
120987022002Reversion of B cell commitment upon loss of Pax5 expression.Mikkola I et al
105246221999Commitment to the B-lymphoid lineage depends on the transcription factor Pax5.Nutt SL et al
90428611997Essential 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 et al
13847921992t(9;14)(p13;q32) denotes a subset of low-grade non-Hodgkin's lymphoma with plasmacytoid differentiation.Offit K et al
107843872000The t(9;14)(p13;q32) translocation in B-cell non-Hodgkin's lymphoma.Ohno H et al
159429422005PAX5/IGH rearrangement is a recurrent finding in a subset of aggressive B-NHL with complex chromosomal rearrangements.Poppe B et al
118698952002Transcriptional control of B-cell development.Schebesta M et al
124798242002Pax5 promotes B lymphopoiesis and blocks T cell development by repressing Notch1.Souabni A et al
127643782003PAX5/ETV6 fusion defines cytogenetic entity dic(9;12)(p13;p13).Strehl S et al
154922622004PAX5 expression in acute leukemias: higher B-lineage specificity than CD79a and selective association with t(8;21)-acute myelogenous leukemia.Tiacci E et al

Other Information

Locus ID:

NCBI: 5079
MIM: 167414
HGNC: 8619
Ensembl: ENSG00000196092

Variants:

dbSNP: 5079
ClinVar: 5079
TCGA: ENSG00000196092
COSMIC: PAX5

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000196092ENST00000358127Q02548
ENSG00000196092ENST00000377840Q02548
ENSG00000196092ENST00000377847Q02548
ENSG00000196092ENST00000377852Q02548
ENSG00000196092ENST00000377853Q02548
ENSG00000196092ENST00000414447Q02548
ENSG00000196092ENST00000446742Q02548
ENSG00000196092ENST00000520154E7ERW5
ENSG00000196092ENST00000520281Q02548
ENSG00000196092ENST00000522003E7ERK2
ENSG00000196092ENST00000522932H0YB47
ENSG00000196092ENST00000523145E7ES87
ENSG00000196092ENST00000523241E7EQT0
ENSG00000196092ENST00000523493Q02548
ENSG00000196092ENST00000524340C0KTE2
ENSG00000196092ENST00000651550E7ERK2

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90

Pathways

PathwaySourceExternal ID
Transcriptional misregulation in cancerKEGGko05202
Transcriptional misregulation in cancerKEGGhsa05202

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
240136382013A recurrent germline PAX5 mutation confers susceptibility to pre-B cell acute lymphoblastic leukemia.82
118772922002The heterogeneity shown by human plasma cells from tonsil, blood, and bone marrow reveals graded stages of increasing maturity, but local profiles of adhesion molecule expression.79
275253692016Defining antigen-specific plasmablast and memory B cell subsets in human blood after viral infection or vaccination.74
256620122015EBV noncoding RNA binds nascent RNA to drive host PAX5 to viral DNA.63
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
190205462009Incidence and diversity of PAX5 fusion genes in childhood acute lymphoblastic leukemia.55
195498202009Opposing effects of SWI/SNF and Mi-2/NuRD chromatin remodeling complexes on epigenetic reprogramming by EBF and Pax5.55
215522072011The transcription factor Pax5 regulates its target genes by recruiting chromatin-modifying proteins in committed B cells.55
216065062011Ebf1 or Pax5 haploinsufficiency synergizes with STAT5 activation to initiate acute lymphoblastic leukemia.55
217106922011Frequent promoter hypermethylation of BRCA2, CDH13, MSH6, PAX5, PAX6 and WT1 in ductal carcinoma in situ and invasive breast cancer.51

Citation

Sabine Strehl

PAX5 (paired box gene 5)

Atlas Genet Cytogenet Oncol Haematol. 2005-08-01

Online version: http://atlasgeneticsoncology.org/gene/62/pax5

Historical Card

2004-01-01 PAX5 (paired box gene 5) by  Sabine Strehl 

Childrens Cancer Research Institute, Kinderspitalgasse 6, A-1090 Vienna, Austria