MAGEA3

Description

The MAGEA3 (MAGE family member A3) is a protein-coding gene located on chromosome X.

MAGEA3 is a protein encoded by the MAGEA3 gene in humans. It belongs to the melanoma-associated antigen gene family, with members sharing 50-80% sequence identity. The MAGEA genes are clustered on chromosome Xq28 and have been linked to disorders like dyskeratosis congenita. While the normal function of MAGEA3 in healthy cells is unknown, its presence on tumor cells is associated with a worse prognosis, particularly in lung adenocarcinoma, where high levels correlate with shorter survival. MAGEA3 is a tumor-specific protein found on various cancers, including melanoma, non-small cell lung cancer, and hematologic malignancies.

MAGEA3 activates the ubiquitin ligase activity of RING-type zinc finger-containing E3 ubiquitin-protein ligases, acting as a repressor of autophagy. It can enhance the ubiquitin ligase activity of TRIM28 and stimulate p53/TP53 ubiquitination by TRIM28, potentially by recruiting or stabilizing the Ubl-conjugating enzyme (E2) at the E3:substrate complex. MAGEA3 may be involved in embryonic development, tumor transformation, or tumor progression. In melanoma cell lines, it has been shown to promote cell viability in vitro. It is recognized as an antigen by autologous cytolytic T-lymphocytes on melanoma cells.

MAGEA3 is also known as CT1.3, HIP8, HYPD, MAGE3, MAGEA6.

Associated Diseases

WES Whole Exome Sequencing