MAGED1: Melanoma-Associated Antigen D1 – A Key Regulator in Apoptosis and Neurodevelopment
Comprehensive genomic and proteomic overview of MAGED1, including expression, mutations, and disease associations.
Gene Information Card
| Symbol | MAGED1 |
|---|---|
| Full Name | MAGE family member D1 |
| Gene Type | Protein coding |
| Chromosomal Location | Xp11.22 |
| NCBI Gene ID | 9500 ncbi.nlm.nih.gov/gene/9500 |
| Ensembl ID | ENSG00000179218 |
| UniProt ID | Q9Y5V3 |
| OMIM ID | 300764 |
| HGNC ID | 6813 |
| Aliases | NRAGE, DLXIN-1, MAGE-D1 |
Description
MAGED1 (MAGE family member D1) encodes a member of the type II melanoma-associated antigen (MAGE) family. The protein contains a MAGE homology domain (MHD) and interacts with several signaling molecules, including p75 neurotrophin receptor, DLX homeobox proteins, and RING finger proteins. It plays roles in apoptosis, cell cycle regulation, neurodevelopment, and transcriptional repression. MAGED1 is widely expressed in adult tissues and is implicated in cancer, neurodevelopmental disorders, and apoptosis-related diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neuroblastoma | MAGED1 interacts with p75NTR to promote apoptosis via JNK signaling; reduced expression correlates with poor prognosis. | PMID: 14517290 |
| Breast cancer | MAGED1 acts as a tumor suppressor by inhibiting cell proliferation and inducing apoptosis through interaction with RING finger proteins. | PMID: 19029910 |
| Intellectual disability (X-linked) | MAGED1 mutations (e.g., missense variants) have been identified in families with X-linked intellectual disability, suggesting a role in neurodevelopment. | PMID: 25217958 |
| Melanoma | MAGED1 is a member of the MAGE family; its expression is dysregulated in melanoma, though direct mechanistic evidence is limited. | PMID: 10557334 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 15.2 | Medium |
| Heart | 8.7 | Low |
| Liver | 6.3 | Low |
| Kidney | 12.1 | Medium |
| Testis | 18.5 | High |
| Placenta | 20.3 | High |
| Lung | 9.4 | Low |
| Skeletal muscle | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.8 | Embryonic kidney; high expression |
| HeLa | 11.2 | Cervical carcinoma; moderate expression |
| SH-SY5Y | 16.5 | Neuroblastoma; high expression |
| MCF7 | 9.3 | Breast cancer; moderate expression |
| A549 | 7.6 | Lung carcinoma; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Met) | Missense | <0.01% | Alters MHD domain; potential loss of function |
| c.487G>A (p.Gly163Arg) | Missense | <0.01% | Associated with X-linked intellectual disability |
| c.1123_1124insA (p.Thr375Asnfs*2) | Frameshift | <0.01% | Predicted loss of function; truncation |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations (e.g., c.1123_1124insA) lead to truncated protein lacking functional domains, impairing apoptotic signaling.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in MAGED1.
Dominant Negative (DN)
Missense mutations in the MHD (e.g., p.Thr34Met) may interfere with wild-type protein interactions, potentially acting in a dominant-negative manner.
View complete mutation data：
Gene Ontology (GO)
Pathways
• p75 NTR signaling pathway (Reactome: R-HSA-193704)
• Apoptosis (KEGG: hsa04210)
• Neurotrophin signaling pathway (KEGG: hsa04722)
• JNK cascade (Reactome: R-HSA-450294)
Protein Summary
MAGED1 (NRAGE) is a 778-amino acid protein containing a MAGE homology domain (MHD) at the N-terminus and a unique C-terminal region. It localizes to the nucleus and cytoplasm. The protein interacts with p75 neurotrophin receptor to promote JNK-dependent apoptosis, with DLX homeoproteins to repress transcription, and with RING finger proteins to modulate ubiquitination. MAGED1 is involved in cell cycle arrest, neuronal differentiation, and tumor suppression. Its expression is highest in testis, placenta, and brain.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MAGED1 Knockout HEK293 Cell Line | EDJ-KQ6611 | Human | 9500 | Details Get a Quote |
| MAGED1 Knockout A-549 Cell Line | EDJ-KQ29502 | Human | 9500 | Details Get a Quote |
| MAGED1 Knockout HCT 116 Cell Line | EDJ-KQ30849 | Human | 9500 | Details Get a Quote |
| MAGED1 Knockout HeLa Cell Line | EDJ-KQ30850 | Human | 9500 | Details Get a Quote |
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