MAGEA1: Melanoma-Associated Antigen 1
Cancer/testis antigen with roles in immune recognition and tumor biology
Gene Information Card
| Symbol | MAGEA1 |
|---|---|
| Full Name | MAGE family member A1 |
| Gene Type | protein-coding |
| Chromosomal Location | Xq28 |
| NCBI Gene ID | 4100 ncbi.nlm.nih.gov/gene/4100 |
| Ensembl ID | ENSG00000198681 |
| UniProt ID | P43355 |
| OMIM ID | 300016 |
| HGNC ID | 6759 |
| Aliases | MAGE-1, CT1.1, MAGE1 |
Description
MAGEA1 (MAGE family member A1) is a protein-coding gene located on the X chromosome (Xq28). It belongs to the melanoma-associated antigen (MAGE) gene family, which encodes cancer/testis antigens. MAGEA1 is normally expressed in testis and placenta but is aberrantly expressed in various cancers, including melanoma, lung, breast, and bladder carcinomas. The protein is involved in cell cycle regulation, apoptosis, and immune recognition, making it a target for cancer immunotherapy.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Melanoma | MAGEA1 is a cancer/testis antigen aberrantly expressed in melanoma cells, recognized by cytotoxic T lymphocytes, leading to immune-mediated tumor rejection. | PMID: 7684465, NCBI Gene |
| Non-small cell lung cancer | MAGEA1 expression is associated with poor prognosis and may promote tumor cell proliferation and metastasis. | PMID: 19029980, COSMIC |
| Breast cancer | MAGEA1 is expressed in a subset of breast cancers, particularly triple-negative subtype, and is associated with immune evasion. | PMID: 23361059, ClinVar |
| Bladder cancer | MAGEA1 expression correlates with advanced tumor stage and may serve as a biomarker for immunotherapy. | PMID: 21572417, COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.5 | High |
| Placenta | 6.2 | Medium |
| Skin | 0.8 | Low |
| Lung | 0.3 | Not detected |
| Breast | 0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SK-MEL-28 (melanoma) | 45.2 | High expression |
| A549 (lung cancer) | 12.8 | Moderate expression |
| MCF7 (breast cancer) | 8.1 | Low expression |
| HEK293 (embryonic kidney) | 0.5 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | 0.01% | Loss of start codon, likely loss of function |
| c.287C>T (p.Pro96Leu) | missense | 0.02% | Unknown functional impact |
| c.538G>A (p.Gly180Arg) | missense | 0.01% | Reported in melanoma, potential gain of function |
Mutation functional classification
Loss of Function (LOF)
c.1A>G (p.Met1?) disrupts translation initiation, leading to loss of protein expression.
Gain of Function (GOF)
c.538G>A (p.Gly180Arg) may enhance protein stability or immune evasion in melanoma.
Dominant Negative (DN)
No dominant-negative mutations reported for MAGEA1.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • nucleus (GO:0005634) |
| • cytoplasm (GO:0005737) | • apoptotic process (GO:0006915) |
| • cell cycle (GO:0007049) | • negative regulation of apoptotic process (GO:0043066) |
Pathways
• p53 signaling pathway (Reactome: R-HSA-3700989)
• Apoptosis (KEGG: hsa04210)
• Cell cycle (KEGG: hsa04110)
Protein Summary
MAGEA1 is a 309-amino acid protein (UniProt P43355) localized to the nucleus and cytoplasm. It contains a MAGE homology domain (MHD) and is involved in regulating apoptosis and cell cycle progression. As a cancer/testis antigen, it is immunogenic and can be recognized by T cells, making it a target for cancer vaccines and adoptive T-cell therapy. Its expression is epigenetically regulated by DNA methylation and histone modifications.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MAGEA1 Knockout HEK293 Cell Line | EDJ-KQ3324 | Human | 4100 | Details Get a Quote |
| MAGEA11 Knockout HEK293 Cell Line | EDJ-KQ4386 | Human | 4110 | Details Get a Quote |
| MAGEA12 Knockout HEK293 Cell Line | EDJ-KQ5161 | Human | 4111 | Details Get a Quote |
| MAGEA10 Knockout HEK293 Cell Line | EDJ-KQ5165 | Human | 4109 | Details Get a Quote |
| MAGEA1 Knockout HeLa Cell Line | EDJ-KQ24934 | Human | 4100 | Details Get a Quote |
| MAGEA11 Knockout HeLa Cell Line | EDJ-KQ28141 | Human | 4110 | Details Get a Quote |
| MAGEA12 Knockout A-549 Cell Line | EDJ-KQ28142 | Human | 4111 | Details Get a Quote |
| MAGEA12 Knockout HeLa Cell Line | EDJ-KQ28143 | Human | 4111 | Details Get a Quote |
| MAGEA10 Knockout HeLa Cell Line | EDJ-KQ53832 | Human | 4109 | Details Get a Quote |
| MAGEA1 Knockout A-549 Cell Line | EDJ-KQ62307 | Human | 4100 | Details Get a Quote |
| MAGEA10 Knockout A-549 Cell Line | EDJ-KQ62315 | Human | 4109 | Details Get a Quote |
| MAGEA11 Knockout A-549 Cell Line | EDJ-KQ62316 | Human | 4110 | Details Get a Quote |
| MAGEA1 Knockout HCT 116 Cell Line | EDJ-KQ70785 | Human | 4100 | Details Get a Quote |
| MAGEA10 Knockout HCT 116 Cell Line | EDJ-KQ70793 | Human | 4109 | Details Get a Quote |
| MAGEA11 Knockout HCT 116 Cell Line | EDJ-KQ70794 | Human | 4110 | Details Get a Quote |
Displaying Records 1 To 15 Of 16 Records
