This gene encodes a member of the B-cell receptor associated protein 31 superfamily. The encoded protein is a multi-pass transmembrane protein of the endoplasmic reticulum that is involved in the anterograde transport of membrane proteins from the endoplasmic reticulum to the Golgi and in caspase 8-mediated apoptosis. Microdeletions in this gene are associated with contiguous ABCD1/DXS1375E deletion syndrome (CADDS), a neonatal disorder. Alternative splicing of this gene results in multiple transcript variants. Two related pseudogenes have been identified on chromosome 16.
A synthesized peptide derived from human BCAR3, corresponding to a region within C-terminal amino acids.
A synthesized peptide derived from human BCAS2, corresponding to a region within the internal amino acids.
A synthesized peptide derived from human BCAS3, corresponding to a region within the internal amino acids.
BCAS3 (breast carcinoma amplified sequence 3), also designated MAAB or GAOB1, is a 913 amino acid protein that is believed to be involved in breast cancer progression. The gene is regulated by ER (estrogen receptor alpha) and expressed in multiple tissues, including malignant human brain lesions. It is overexpressed and amplified in breast cancer cell lines. BCAS3 contains three WD40 repeat regions, a bromodomain, a rare zinc-finger motif, four probable DNA-binding domains, and two kinase-inducible phosphorylation domains. Five variants are produced due to alternative splicing. BCAS3 interacts with histone H3 and PCAF, which is indicative of histone acetyltransferase activity. BCAS3 also exhibits ER transactiviation activity by acting as a coactivator with PELP1 or MTA1. The amplification and translocation between the BCAS3 gene and the BCAS4 gene results in a fusion transcript is overexpressed in MCF-7 cells.
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