B-cell CLL/lymphoma 9 protein

Function

Involved in signal transduction through the Wnt pathway. Promotes beta-catenin's transcriptional activity (By similarity).

Involvement in disease

A chromosomal aberration involving BCL9 is found in a patient with precursor B-cell acute lymphoblastic leukemia (ALL). Translocation t(1;14)(q21;q32). This translocation leaves the coding region intact, but may have pathogenic effects due to alterations in the expression level of BCL9. Several cases of translocations within the 3'-UTR of BCL9 have been found in B-cell malignancies.

Sequence Similarities

Belongs to the BCL9 family.

Tissue Specificity

Detected at low levels in thymus, prostate, testis, ovary and small intestine, and at lower levels in spleen, colon and blood.

Cellular localization

• Nucleus

Alternative names

B-cell CLL/lymphoma 9 protein, B-cell lymphoma 9 protein, Bcl-9, Protein legless homolog, BCL9

Database links

swissprot:O00512 omim:602597 swissprot:Q1JQ81 swissprot:Q5T489 entrezGene:607