MAGEB1
MAGE Family Member B1, a Cancer/Testis Antigen with Potential Roles in Spermatogenesis and Tumor Immunity
Gene Information Card
| Symbol | MAGEB1 |
|---|---|
| Full Name | MAGE Family Member B1 |
| Gene Type | Protein coding |
| Chromosomal Location | Xp21.3 |
| NCBI Gene ID | 4112 ncbi.nlm.nih.gov/gene/4112 |
| Ensembl ID | ENSG00000168952 |
| UniProt ID | P43365 |
| OMIM ID | 300096 |
| HGNC ID | 6810 |
| Aliases | DAM10, MAGE-B1, MAGE-Xp, MAGEL1 |
Description
MAGEB1 (MAGE Family Member B1) is a protein-coding gene located on the X chromosome. It belongs to the MAGE (Melanoma Antigen Gene) family, whose members are typically expressed in testis and various cancers but silenced in normal somatic tissues. MAGEB1 is a cancer/testis antigen (CTA) involved in spermatogenesis and may play a role in tumor immune evasion. Its expression is regulated by promoter methylation, and it has been implicated in several cancers, including melanoma and lung cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Melanoma | MAGEB1 expression in melanoma may contribute to immune evasion by modulating antigen presentation; recognized by cytotoxic T lymphocytes. | NCBI Gene, OMIM |
| Non-small cell lung cancer | Aberrant MAGEB1 expression observed; potential biomarker for immunotherapy. | NCBI Gene, COSMIC |
| Breast cancer | MAGEB1 expression reported in a subset of breast tumors; associated with poor prognosis. | COSMIC, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Placenta | 0.8 | Not detected |
| Lung | 0.1 | Not detected |
| Skin | 0.0 | Not detected |
| Brain | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SK-MEL-28 (melanoma) | 15.2 | High expression |
| A549 (lung cancer) | 8.4 | Moderate expression |
| MCF7 (breast cancer) | 3.1 | Low expression |
| HEK293 (embryonic kidney) | 0.0 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.1% in COSMIC | Potential loss of start codon; functional impact unknown |
| c.100C>T (p.Arg34Trp) | Missense | <0.1% in COSMIC | Rare variant; no known disease association |
| c.250G>A (p.Gly84Ser) | Missense | <0.1% in COSMIC | Reported in melanoma; significance uncertain |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in major databases.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations described.
View complete mutation data：
Gene Ontology (GO)
| • DNA binding (GO:0003677) | • protein binding (GO:0005515) |
| • nucleus (GO:0005634) | • spermatogenesis (GO:0007283) |
| • negative regulation of apoptotic process (GO:0043066) |
Pathways
• Pathway: Cancer/testis antigen expression in melanoma (Reactome: R-HSA-9660821)
• Pathway: Immune system (Reactome: R-HSA-168256)
Protein Summary
MAGEB1 is a 429-amino acid protein belonging to the MAGE family. It contains a conserved MAGE homology domain (MHD) and is localized to the nucleus. The protein is thought to interact with other proteins to regulate transcription and apoptosis. As a cancer/testis antigen, MAGEB1 is a target for cancer immunotherapy, with peptides presented by MHC class I molecules on tumor cells.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MAGEB1 Knockout HEK293 Cell Line | EDJ-KQ5169 | Human | 4112 | Details Get a Quote |
| MAGEB10 Knockout HEK293 Cell Line | EDJ-KQ9545 | Human | 139422 | Details Get a Quote |
| MAGEB16 Knockout HEK293 Cell Line | EDJ-KQ9587 | Human | 139604 | Details Get a Quote |
| MAGEB17 Knockout HEK293 Cell Line | EDJ-KQ13388 | Human | 645864 | Details Get a Quote |
| MAGEB18 Knockout HEK293 Cell Line | EDJ-KQ14178 | Human | 286514 | Details Get a Quote |
| MAGEB1 Knockout HCT 116 Cell Line | EDJ-KQ28150 | Human | 4112 | Details Get a Quote |
| MAGEB17 Knockout HCT 116 Cell Line | EDJ-KQ44108 | Human | 645864 | Details Get a Quote |
| MAGEB1 Knockout HeLa Cell Line | EDJ-KQ53833 | Human | 4112 | Details Get a Quote |
| MAGEB10 Knockout HeLa Cell Line | EDJ-KQ58413 | Human | 139422 | Details Get a Quote |
| MAGEB16 Knockout HeLa Cell Line | EDJ-KQ58417 | Human | 139604 | Details Get a Quote |
| MAGEB18 Knockout HeLa Cell Line | EDJ-KQ59559 | Human | 286514 | Details Get a Quote |
| MAGEB17 Knockout HeLa Cell Line | EDJ-KQ60595 | Human | 645864 | Details Get a Quote |
| MAGEB1 Knockout A-549 Cell Line | EDJ-KQ62317 | Human | 4112 | Details Get a Quote |
| MAGEB10 Knockout A-549 Cell Line | EDJ-KQ66902 | Human | 139422 | Details Get a Quote |
| MAGEB16 Knockout A-549 Cell Line | EDJ-KQ66906 | Human | 139604 | Details Get a Quote |
Displaying Records 1 To 15 Of 20 Records
