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paired box protein Pax-5; B-cell-specific transcription factor (BSAP, PAX5)
Function:
- may play role in B-cell differentiation, neural development & spermatogenesis
- involved in regulation of the CD19 gene, a B-lymphoid-specific target gene
- interacts with DAXX (putative)
- binds DNA as a monomer
- binds TLE4 O-glycosylated (probable)
Structure: contains 1 paired domain
Compartment: nucleus
Expression:
- expressed at early B-cell differentiation, in the developing CNS & in adult testis
Pathology:
- chromosomal translocation t(9;18)(p13;q11.2) involving PAX5 with ZNF521 is a cause of acute lymphoblastic leukemia
- chromosomal translocation t(9;3)(p13;p14.1) involving PAX5 with FOXP1
- chromosomal translocation t(9;12)(p13;p13) involving PAX5 with ETV6
Related
PAX5 Ag in tissue
PAX5+BCL2 Ag in tissue
PAX5+CD43 Ag in tissue
PAX5+CD5 Ag in tissue
General
paired box protein (PAX)
Properties
SIZE: entity length = 391 aa
MW = 42 kD
COMPARTMENT: cell nucleus
MOTIF: paired box
SITE: 16-142
Breakpoint {158-159}
Breakpoint {260-261}
Breakpoint {303-304}
Database Correlations
OMIM 167414
UniProt Q02548
Pfam PF00292
Entrez Gene 5079
Kegg hsa:5079
References
- UniProt :accession Q02548
- Entrez Gene :accession 5079
- Atlas of genetics & cytogenetics in oncology & haematology
http://atlasgeneticsoncology.org/genes/PAX5ID62.html