MAGEH1
MAGE Family Member H1
Gene Information Card
| Symbol | MAGEH1 |
|---|---|
| Full Name | MAGE family member H1 |
| Gene Type | Protein coding |
| Chromosomal Location | Xp11.22 |
| NCBI Gene ID | 28986 ncbi.nlm.nih.gov/gene/28986 |
| Ensembl ID | ENSG00000147180 |
| UniProt ID | Q9H213 |
| OMIM ID | 300765 |
| HGNC ID | 6813 |
| Aliases | MAGE-H1, MAGEF1, MAGE-E1 |
Description
MAGEH1 (MAGE family member H1) is a protein-coding gene located on chromosome Xp11.22. It belongs to the MAGE (melanoma antigen) family, which encodes proteins involved in cell cycle regulation, apoptosis, and tumorigenesis. MAGEH1 is expressed in various tissues and is implicated in cancer and neurological disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Overexpression may promote cell proliferation and inhibit apoptosis | COSMIC; literature |
| X-linked intellectual disability | Potential role in neuronal development; mutations observed in some cases | OMIM; ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Brain | 8.5 | Low |
| Lung | 6.1 | Low |
| Liver | 4.3 | Low |
| Kidney | 3.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 12.0 | Moderate expression |
| HeLa | 9.5 | Low expression |
| A549 | 7.8 | Low expression |
| MCF7 | 6.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.123C>T (p.Arg41Cys) | Missense | <0.1% | Unknown functional impact |
| c.456G>A (p.Trp152*) | Nonsense | <0.01% | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., p.Trp152*) likely result in truncated protein and loss of function.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • protein binding | • ubiquitin protein ligase binding |
| • negative regulation of apoptosis | • cell cycle |
Pathways
• MAGE family signaling
• p53 pathway regulation
Protein Summary
MAGEH1 encodes a protein of approximately 429 amino acids containing a MAGE homology domain. It interacts with E3 ubiquitin ligases and may modulate p53 activity, influencing cell survival and proliferation. The protein is predominantly cytoplasmic but can localize to the nucleus.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MAGEH1 Knockout HEK293 Cell Line | EDJ-KQ8955 | Human | 28986 | Details Get a Quote |
| MAGEH1 Knockout A-549 Cell Line | EDJ-KQ35337 | Human | 28986 | Details Get a Quote |
| MAGEH1 Knockout HeLa Cell Line | EDJ-KQ56086 | Human | 28986 | Details Get a Quote |
| MAGEH1 Knockout HCT 116 Cell Line | EDJ-KQ73026 | Human | 28986 | Details Get a Quote |
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