paired box protein Pax-5; B-cell-specific transcription factor (BSAP, PAX5)

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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

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

More general terms

paired box protein (PAX)

References

↑ UniProt http://www.uniprot.org/uniprot/Q02548.html
↑ Entrez Gene http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=5079
↑ Atlas of genetics & cytogenetics in oncology & haematology http://atlasgeneticsoncology.org/genes/PAX5ID62.html

Database

UniProt: http://www.uniprot.org/uniprot/Q02548.html
Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:5079
OMIM: https://mirror.omim.org/entry/167414
Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=5079

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