MAGED1

Description

The MAGED1 (MAGE family member D1) is a protein-coding gene located on chromosome X.

MAGED1, or Melanoma-associated antigen D1, is a protein encoded by the MAGED1 gene in humans. It belongs to the melanoma antigen gene (MAGE) family, which primarily encodes tumor-specific antigens not expressed in normal adult tissues except the testis. While MAGED1 shares homology with MAGE family members, it is expressed in almost all normal adult tissues. It is involved in the p75 neurotrophin receptor-mediated programmed cell death pathway. Three transcript variants encoding two isoforms have been identified for this gene. MAGED1 has been found to be deleted in a group of children with an intellectual disability disorder caused by a Xp11.22 deletion. It also plays a role in regulating the reward circuitry in the brain of mice, which is associated with addictive behaviors. Recent research suggests its involvement in drug addiction through an epigenetic mechanism involving the monoubiquitination of H2A, repressing gene expression through interaction with the deubiquitinase USP7. MAGED1 interacts with proteins such as UNC5A, PJA1, XIAP, and USP7.

MAGED1 plays a role in apoptosis triggered by nerve growth factor (NGF) binding in nerve cells. It also inhibits cell division and promotes apoptosis mediated by the NGFR receptor. MAGED1 may regulate the function of DLX family proteins. It can boost the activity of RING-type zinc finger-containing E3 ubiquitin-protein ligases, which are involved in protein degradation. This enhancement likely occurs by bringing in and/or stabilizing the Ubl-conjugating enzyme (E2) at the E3:substrate complex. MAGED1 contributes to the regulation of the circadian rhythm. It might act as a co-regulator of RORA, influencing the expression of core clock genes like BMAL1 and NFIL3 (upregulated) or NR1D1 (downregulated).

MAGED1 is also known as DLXIN-1, NRAGE.

Associated Diseases

WES Whole Exome Sequencing