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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
Note:
- uncertain whether Met-1 or Met-27 is the initiator
Interactions
molecular events
General
bcl protein (B-cell leukemia/lymphoma protein)
Properties
SIZE: entity length = 1426 aa
MW = 149 kD
COMPARTMENT: cell nucleus
MOTIF: Thr phosphorylation site {T155}
Thr phosphorylation site {T172}
proline-rich region
SITE: 231-1378
MOTIF: proline residue (SEVERAL)
Thr phosphorylation site {T315}
Ser phosphorylation site {S318}
proline-rich region
SITE: 331-335
MOTIF: proline residue (SEVERAL)
binding site
SITE: 347-377
FOR-BINDING-OF: beta catenin
Ser phosphorylation site {S352}
proline-rich region
SITE: 514-517
MOTIF: proline residue (SEVERAL)
Ser phosphorylation site {S687}
alanine-rich region {900-903}
MOTIF: alanine residue (SEVERAL)
proline-rich region
SITE: 970-973
MOTIF: proline residue (SEVERAL)
Database Correlations
OMIM 602597
UniProt O00512
Entrez Gene 607
Kegg hsa:607
References
- UniProt :accession O00512
- Atlas of Genetics & Cytogenetics in Oncology & Haematology
http://atlasgeneticsoncology.org/genes/BCL9ID466.html
- Entrez Gene :accession 607
Component-of
molecular complex