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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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MAGEH1
MAGE family member H1
Chromosome X · Xp11.21
NCBI Gene: 28986Ensembl: ENSG00000187601.5HGNC: HGNC:24092UniProt: Q9H213
28PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingnucleolusnegative regulation of transcription by RNA polymerase IInucleusneurodegenerative diseasemelanomaneoplasmglioma
✦AI Summary

MAGEH1 (MAGE family member H1) is a member of the melanoma-associated antigen (MAGE) superfamily that functions as a nuclear protein involved in transcriptional regulation and apoptosis 1. The protein localizes to the nucleolus and nucleus, where it participates in negative regulation of RNA polymerase II-mediated transcription. MAGEH1 demonstrates significant clinical relevance as a biomarker across multiple cancer types. In hepatocellular carcinoma, MAGEH1 expression is downregulated in tumor tissues compared to adjacent normal liver, and low expression correlates with poor prognosis, enhanced cell proliferation, migration, and invasion 1. In biliary tract carcinoma, MAGEH1 expression negatively correlates with gemcitabine sensitivity, with higher expression associated with treatment resistance 2. The gene also serves as a signature marker for tumor-infiltrating regulatory T cells, where high expression correlates with poor prognosis in colorectal and lung cancers 3. Additionally, MAGEH1 has diagnostic utility, being used in neonatal screening algorithms for Turner syndrome detection due to its X-chrX location 4. Functional mutations in MAGEH1 identified in oligodendrogliomas can alter protein subcellular localization, suggesting its involvement in gliomagenesis 5.

Sources cited
1
MAGEH1 belongs to MAGE superfamily, is downregulated in HCC, and correlates with poor prognosis
PMID: 29316827
2
MAGEH1 expression negatively correlates with gemcitabine sensitivity in biliary tract carcinoma
PMID: 20088962
3
MAGEH1 is a signature marker for tumor-infiltrating Treg cells and correlates with poor prognosis
PMID: 27851914
4
MAGEH1 is used in neonatal screening for Turner syndrome due to X-chromosomal location
PMID: 25366798
5
Functional mutations in MAGEH1 can alter protein subcellular localization in oligodendrogliomas
PMID: 25694352
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.32Weak
melanomaOpen Targets
0.08Suggestive
neoplasmOpen Targets
0.06Suggestive
gliomaOpen Targets
0.06Suggestive
myeloid sarcomaOpen Targets
0.06Suggestive
breast cancerOpen Targets
0.05Suggestive
non-small cell lung carcinomaOpen Targets
0.04Suggestive
glioblastoma multiformeOpen Targets
0.03Suggestive
hepatocellular carcinomaOpen Targets
0.03Suggestive
cholangiocarcinomaOpen Targets
0.02Suggestive
gastric cancerOpen Targets
0.02Suggestive
ulcerative colitisOpen Targets
0.02Suggestive
Hodgkins lymphomaOpen Targets
0.01Suggestive
cancerOpen Targets
0.01Suggestive
lung cancerOpen Targets
0.01Suggestive
astrocytomaOpen Targets
0.01Suggestive
lung adenocarcinomaOpen Targets
0.01Suggestive
anaplastic large cell lymphomaOpen Targets
0.01Suggestive
multiple sclerosisOpen Targets
0.01Suggestive
teratocarcinomaOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes

No related genes found for this gene.

Tissue Expression

No tissue expression data available for this gene.

Gene Interaction Network

No interaction data available for this gene.

PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q9H213
View on AlphaFold ↗
RankingsWhere MAGEH1 stands among ~20K protein-coding genes
  • #12,384of 20,598
    Most Researched28
Genes detectedMAGEH1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Neonatal detection of Turner syndrome by real-time PCR gene quantification of the ARSE and MAGEH1 genes.
PMID: 25366798
Genet Mol Res · 2014
1.00
2
Establishment of six new human biliary tract carcinoma cell lines and identification of MAGEH1 as a candidate biomarker for predicting the efficacy of gemcitabine treatment.
PMID: 20088962
Cancer Sci · 2010
0.90
3
Downregulation of MAGE family member H1 enhances hepatocellular carcinoma progression and serves as a biomarker for patient prognosis.
PMID: 29316827
Future Oncol · 2018
0.80
4
Single-cell landscape of immunocytes in patients with extrahepatic cholangiocarcinoma.
PMID: 35562760
J Transl Med · 2022
0.70
5
Transcriptional Landscape of Human Tissue Lymphocytes Unveils Uniqueness of Tumor-Infiltrating T Regulatory Cells.
PMID: 27851914
Immunity · 2016
0.60