B-cell CLL/lymphoma 9 protein; B-cell lymphoma 9 protein; Bcl-9; protein legless homolog (BCL9)

Function

• role in signal transduction through the Wnt pathway
• promotes beta-catenin's transcriptional activity (putative)
• phosphorylated upon DNA damage, probably by ATM or ATR
• binds to beta-catenin (CTNNB1), PYGO1 & PYGO2

Structure

belongs to the BCL9 family

Compartment

nucleus (putative)

Expression

• detected at low levels in thymus, prostate, testis, ovary & small intestine, & at lower levels in spleen, colon & blood

Pathology

• chromosomal translocation t(1;14)(q21;q32) involving BCL9 is found precusor B-cell acute lymphoblastic leukemia (ALL) (one patient); translocation leaves coding region intact, but may have pathogenic effects due to alterations in expression level of BCL9
• several cases of translocations within the 3'-UTR of BCL9 have been found in B-cell malignancies

Notes

• uncertain whether Met-1 or Met-27 is the initiator

More general terms

• bcl protein (B-cell leukemia/lymphoma protein)

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=607
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:607
• OMIM: https://mirror.omim.org/entry/602597
• UniProt: http://www.uniprot.org/uniprot/O00512.html