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.
A synthesized peptide derived from human BCAS4, corresponding to a region within the internal amino acids.
The gene encoding BCAS4 (Breast carcinoma-amplified sequence 4), a 211 amino acid protein, is found in a region on chromosome 20 that is frequently amplified in human breast cancer.The amplification and translocation between the BCAS4 gene and the BCAS3 gene, with a 17q23 locus, results in a fusion transcript that is overexpressed in MCF-7 cells. Also, deletion of chromosomal region 20q13.13-q13.2 and resultant deletion of BCAS4, as well as three other genes, is the cause of Okihiro syndrome, a disease characterized by ocular and upper limb anomalies.
A synthesized peptide derived from human BCAT1/ECA39, corresponding to a region within the internal amino acids.
This gene encodes the cytosolic form of the enzyme branched-chain amino acid transaminase. This enzyme catalyzes the reversible transamination of branched-chain alpha-keto acids to branched-chain L-amino acids essential for cell growth. Two different clinical disorders have been attributed to a defect of branched-chain amino acid transamination: hypervalinemia and hyperleucine-isoleucinemia. As there is also a gene encoding a mitochondrial form of this enzyme, mutations in either gene may contribute to these disorders. Alternatively spliced transcript variants have been described.
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