This gene encodes 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 motif, known as the paired box. Paired box transcription factors are important regulators in early development, and alterations in the expression of their genes are thought to contribute to neoplastic transformation. This gene encodes the B-cell lineage specific activator protein that is expressed at early, but not late stages of B-cell differentiation. Its expression has also been detected in developing CNS and testis and so the encoded protein may also play a role in neural development and spermatogenesis. This gene is located at 9p13, 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 into close proximity of the PAX5 promoter, suggesting that the deregulation of transcription of this gene contributes to the pathogenesis of these lymphomas. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]
Function:
May play an important role in B-cell differentiation as well as neural development and spermatogenesis. Involved in the regulation of the CD19 gene, a B-lymphoid-specific target gene.
Subunit:
Interacts with DAXX (By similarity). Binds DNA as a monomer. Binds TLE4. Interacts with ETS1, altering its DNA-binding properties.
Subcellular Location:
Nucleus.
Tissue Specificity:
Expressed at early B-cell differentiation, in the developing CNS and in adult testis.
Post-translational modifications:
O-glycosylated (Probable).
DISEASE:
Note=A chromosomal aberration involving PAX5 is a cause of acute lymphoblastic leukemia. Translocation t(9;18)(p13;q11.2) with ZNF521. Translocation t(9;3)(p13;p14.1) with FOXP1. Translocation t(9;12)(p13;p13) with ETV6.
Similarity:
Contains 1 paired domain.
SWISS:
Q02548
Gene ID:
5079
Database links:
Entrez Gene: 5079 Human
Entrez Gene: 18507 Mouse
Omim: 167414 Human
SwissProt: Q02548 Human
SwissProt: Q02650 Mouse
同源结构域蛋白（Homeodomain Proteins）
PAX-5属于转录抑制因子。在胚胎发育和肿瘤生长中起关键作用。其突变和某些肿瘤的发病有关。Pax-5基因是B细胞生成和B细胞发育的重要转录因子，是B细胞系特异性激活蛋白。在B细胞早期发育阶段，Pax-5能影响CD19、CD20等B细胞特异性基因的表达。它主要分布于前B细胞和成熟B细胞。该蛋白对B细胞和神经元的发育有重要作用。
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Paraformaldehyde-fixed, paraffin embedded (Human colon carcinoma); Antigen retrieval by boiling in sodium citrate buffer (pH6.0) for 15min; Block endogenous peroxidase by 3% hydrogen peroxide for 20 minutes; Blocking buffer (normal goat serum) at 37°C for 30min; Antibody incubation with (PAX5) Polyclonal Antibody, Unconjugated (SL1861R) at 1:400 overnight at 4°C, followed by operating according to SP Kit(Rabbit) (sp-0023) instructionsand DAB staining.
Paraformaldehyde-fixed, paraffin embedded (Human colon cancer); Antigen retrieval by boiling in sodium citrate buffer (pH6.0) for 15min; Block endogenous peroxidase by 3% hydrogen peroxide for 20 minutes; Blocking buffer (normal goat serum) at 37°C for 30min; Antibody incubation with (PAX5) Polyclonal Antibody, Unconjugated (SL1861R) at 1:400 overnight at 4°C, followed by a conjugated Goat Anti-Rabbit IgG antibody (SL0295G-cy3) for 90 minutes, and DAPI for nuclei staining.
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