Details for: MAGEH1

Gene ID: 28986

Gene Type:  Protein-coding  - A gene that serves as a template for producing a messenger RNA (mRNA) molecule, which is then translated into a functional protein.

Symbol: MAGEH1

Ensembl ID: ENSG00000187601

Description: MAGE family member H1

Selected Context(s):  Overall

Cell Significance Landscape

Contexts:

Associated with

Significant Cells

Cell Significance Index (CSI) scores for the chosen context(s)

  • peripheral nervous system neuron CL2000032
    CSI 11.99
    rCSI 16.33%
    PRS 83.44
  • vascular associated smooth muscle cell CL0000359
    CSI 9.82
    rCSI 31.84%
    PRS 87.94
  • tracheobronchial smooth muscle cell CL0019019
    CSI 6.99
    rCSI 12.32%
    PRS 92.55
  • T follicular helper cell CL0002038
    CSI 6.78
    rCSI 5.07%
    PRS 96.6
  • stem cell CL0000034
    CSI 6.41
    rCSI 6.18%
    PRS 85.7
  • regulatory T cell CL0000815
    CSI 6.09
    rCSI 7.07%
    PRS 85.04
  • CD8-positive, CD28-negative, alpha-beta regulatory T cell CL0000920
    CSI 5.85
    rCSI 11.66%
    PRS 96.19
  • pro-B cell CL0000826
    CSI 4.74
    rCSI 3.93%
    PRS 91.24
  • ON-bipolar cell CL0000749
    CSI 4.74
    rCSI 7.05%
    PRS 88.67
  • cerebral cortex GABAergic interneuron CL0010011
    CSI 4.28
    rCSI 12.64%
    PRS 90.01
  • glioblast CL0000030
    CSI 4.26
    rCSI 6.79%
    PRS 82.39
  • T-helper 17 cell CL0000899
    CSI 4.25
    rCSI 3.37%
    PRS 97.85
  • double-positive, alpha-beta thymocyte CL0000809
    CSI 4.2
    rCSI 4.28%
    PRS 94.77
  • perivascular cell CL4033054
    CSI 4.14
    rCSI 5.66%
    PRS 92.93
  • neural crest cell CL0011012
    CSI 3.98
    rCSI 3.15%
    PRS 82.59
  • intestine goblet cell CL0019031
    CSI 3.94
    rCSI 3.5%
    PRS 87.38
  • skin fibroblast CL0002620
    CSI 3.88
    rCSI 3.34%
    PRS 89.33
  • rod bipolar cell CL0000751
    CSI 3.82
    rCSI 6.87%
    PRS 84.75
  • melanocyte CL0000148
    CSI 3.78
    rCSI 2.8%
    PRS 85.97
  • lung ciliated cell CL1000271
    CSI 3.76
    rCSI 4.35%
    PRS 84.16
  • myofibroblast cell CL0000186
    CSI 3.74
    rCSI 5.19%
    PRS 86.53
  • retina horizontal cell CL0000745
    CSI 3.72
    rCSI 5.67%
    PRS 86.66
  • hematopoietic stem cell CL0000037
    CSI 3.67
    rCSI 2.44%
    PRS 91.23
  • CD4-positive, alpha-beta memory T cell CL0000897
    CSI 3.49
    rCSI 2.51%
    PRS 97.43
  • pancreatic D cell CL0000173
    CSI 3.42
    rCSI 3.37%
    PRS 91.55
  • forebrain radial glial cell CL0013000
    CSI 3.4
    rCSI 10.9%
    PRS 89.63
  • interstitial cell of Cajal CL0002088
    CSI 3.37
    rCSI 4.28%
    PRS 93.38
  • interneuron CL0000099
    CSI 3.23
    rCSI 6.48%
    PRS 83.53
  • bronchus fibroblast of lung CL2000093
    CSI 3.19
    rCSI 2.6%
    PRS 89.15
  • chondrocyte CL0000138
    CSI 3.18
    rCSI 5.06%
    PRS 85
  • VIP GABAergic cortical interneuron CL4023016
    CSI 3.11
    rCSI 3.71%
    PRS 76.51
  • fibroblast of lung CL0002553
    CSI 3.1
    rCSI 2.88%
    PRS 91
  • alveolar type 1 fibroblast cell CL4028004
    CSI 3.03
    rCSI 3.32%
    PRS 91.29
  • early lymphoid progenitor CL0000936
    CSI 3.01
    rCSI 2.64%
    PRS 92.99
  • Mueller cell CL0000636
    CSI 2.99
    rCSI 6.83%
    PRS 83.23
  • CD4-positive, CD25-positive, alpha-beta regulatory T cell CL0000792
    CSI 2.83
    rCSI 2.78%
    PRS 97.35
  • plasmacytoid dendritic cell, human CL0001058
    CSI 2.78
    rCSI 1.94%
    PRS 92.8
  • epithelial cell of lung CL0000082
    CSI 2.77
    rCSI 2.3%
    PRS 90.59
  • plasmablast CL0000980
    CSI 2.73
    rCSI 2.15%
    PRS 92.31
  • pancreatic A cell CL0000171
    CSI 2.67
    rCSI 2.8%
    PRS 91.72
  • progenitor cell CL0011026
    CSI 2.58
    rCSI 5.48%
    PRS 83.89
  • neuroblast (sensu Vertebrata) CL0000031
    CSI 2.58
    rCSI 3.31%
    PRS 86.36
  • ciliated epithelial cell CL0000067
    CSI 2.56
    rCSI 2.25%
    PRS 81.07
  • corticothalamic-projecting glutamatergic cortical neuron CL4023013
    CSI 2.5
    rCSI 14.74%
    PRS 76.96
  • alveolar adventitial fibroblast CL4028006
    CSI 2.47
    rCSI 3.89%
    PRS 90.73
  • choroid plexus epithelial cell CL0000706
    CSI 2.43
    rCSI 3.98%
    PRS 82.48
  • intestinal epithelial cell CL0002563
    CSI 2.36
    rCSI 2.47%
    PRS 87.48
  • neuroblast (sensu Nematoda and Protostomia) CL0000338
    CSI 2.3
    rCSI 2.65%
    PRS 82.7
  • lung pericyte CL0009089
    CSI 2.29
    rCSI 6.04%
    PRS 93.6
  • sst GABAergic cortical interneuron CL4023017
    CSI 2.22
    rCSI 2.87%
    PRS 77.61
  • Schwann cell CL0002573
    CSI 2.14
    rCSI 6.08%
    PRS 86.35
  • lung neuroendocrine cell CL1000223
    CSI 2.07
    rCSI 3.06%
    PRS 91.58
  • differentiation-committed oligodendrocyte precursor CL4023059
    CSI 2.06
    rCSI 3.74%
    PRS 83.42
  • myeloid leukocyte CL0000766
    CSI 2.06
    rCSI 1.9%
    PRS 90.9
  • radial glial cell CL0000681
    CSI 1.99
    rCSI 2.76%
    PRS 88.34
  • retinal bipolar neuron CL0000748
    CSI 1.98
    rCSI 3.71%
    PRS 81.11
  • mesodermal cell CL0000222
    CSI 1.95
    rCSI 2.34%
    PRS 88.62
  • endocrine cell CL0000163
    CSI 1.92
    rCSI 9.85%
    PRS 96.01
  • pvalb GABAergic cortical interneuron CL4023018
    CSI 1.89
    rCSI 2.35%
    PRS 74.33
  • OFF-bipolar cell CL0000750
    CSI 1.87
    rCSI 2.56%
    PRS 88.81
  • pancreatic ductal cell CL0002079
    CSI 1.77
    rCSI 3.45%
    PRS 91.46
  • neural cell CL0002319
    CSI 1.76
    rCSI 6.64%
    PRS 74.51
  • enteroendocrine cell CL0000164
    CSI 1.74
    rCSI 2.38%
    PRS 88.4
  • type B pancreatic cell CL0000169
    CSI 1.51
    rCSI 3.34%
    PRS 89.72
  • IgG plasma cell CL0000985
    CSI 1.49
    rCSI 1.78%
    PRS 93.94
  • sncg GABAergic cortical interneuron CL4023015
    CSI 1.45
    rCSI 2.33%
    PRS 77.47
  • caudal ganglionic eminence derived cortical interneuron CL4023064
    CSI 1.37
    rCSI 2.43%
    PRS 75.92
  • lamp5 GABAergic cortical interneuron CL4023011
    CSI 1.36
    rCSI 2.28%
    PRS 76.44
  • mesenchymal cell CL0008019
    CSI 1.31
    rCSI 3.34%
    PRS 84.65
  • neural progenitor cell CL0011020
    CSI 1.29
    rCSI 5.69%
    PRS 79.35
  • retinal cone cell CL0000573
    CSI 1.21
    rCSI 1.95%
    PRS 82.09
  • Cajal-Retzius cell CL0000695
    CSI 1.17
    rCSI 9.19%
    PRS 91.64
  • pancreatic PP cell CL0002275
    CSI 1.06
    rCSI 4.22%
    PRS 93.16
  • cerebral cortex pyramidal neuron CL4023111
    CSI 0.99
    rCSI 6.1%
    PRS 91.1
  • pancreatic stellate cell CL0002410
    CSI 0.89
    rCSI 5.17%
    PRS 91.39
  • podocyte CL0000653
    CSI 0.88
    rCSI 3.93%
    PRS 90.38
  • microcirculation associated smooth muscle cell CL0008035
    CSI 0.82
    rCSI 2.37%
    PRS 88.84
  • L2/3-6 intratelencephalic projecting glutamatergic neuron CL4023040
    CSI 0.82
    rCSI 1.98%
    PRS 74.24
  • L6b glutamatergic cortical neuron CL4023038
    CSI 0.76
    rCSI 2.37%
    PRS 77.86
  • chandelier pvalb GABAergic cortical interneuron CL4023036
    CSI 0.75
    rCSI 2.35%
    PRS 79.54
  • near-projecting glutamatergic cortical neuron CL4023012
    CSI 0.66
    rCSI 2.48%
    PRS 76.7
  • L5 extratelencephalic projecting glutamatergic cortical neuron CL4023041
    CSI 0.53
    rCSI 1.9%
    PRS 74.37

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.
Network Configuration

Explore relationships of the current gene. Select an Interaction Source: 'ONTOLOGY' for shared pathways (GO/Reactome) or 'STRING' for protein-protein interactions. Further refine by selecting context genes and comparing Cell Significance Index (CSI) scores between baseline and target cell types and their specific contexts.

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Legend:
  • Query Gene
  • Node Color (Target Cell CSI, relative to current network):
    • Very High
    • High
    • Medium
    • Low
    • Very Low
    • CSI N/A
  • Node Size: Proportional to Target Cell CSI magnitude
  • STRING PPI Edge
  • Shared Pathway Edge (ONTOLOGY)

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Other Information

This section provides additional information about the gene, including a description generated by an AI language model and details about associated proteins.

## Summary [MAGEH1](/details-gene/28986) (Melanoma-associated antigen family member H1) is a protein-coding gene located on the X chromosome at position Xp11.21 [Link](https://doi.org/10.1038/nature03440). As a member of the MAGE gene family, it has been primarily characterized through large-scale cDNA sequencing projects [Link](https://doi.org/10.1038/ng1285), [Link](https://doi.org/10.1101/gr.2596504). Functionally, [MAGEH1](/details-gene/28986) is localized to the [nucleus](/details-go/GO:0005634) where it is implicated in the negative regulation of transcription and the [apoptotic process](/details-go/GO:0006915). Its expression profile is notably specific, with high significance in diverse cell types including [peripheral nervous system neuron](/details-cell/CL2000032), [vascular associated smooth muscle cell](/details-cell/CL0000359), and several subsets of T lymphocytes, suggesting a fundamental role in the development, maintenance, and regulation of these distinct lineages. There is a clinical association noted in OMIM ([300548](https://omim.org/entry/300548)). ## Cellular Roles and Expression Landscape The expression landscape of [MAGEH1](/details-gene/28986) suggests a multifaceted role across several major physiological systems. **Overall**, the gene shows the highest significance in the nervous system, with its most prominent expression observed in [peripheral nervous system neuron](/details-cell/CL2000032) (CSI: 11.99). Significant expression is also noted in other neural cell types, including [cerebral cortex GABAergic interneuron](/details-cell/CL0010011) and [ON-bipolar cell](/details-cell/CL0000749), indicating a potentially important function in neuronal identity or function. A second major functional context for [MAGEH1](/details-gene/28986) is in smooth muscle tissue. It is a highly significant marker for [vascular associated smooth muscle cell](/details-cell/CL0000359) (CSI: 9.82) and [tracheobronchial smooth muscle cell](/details-cell/CL0019019) (CSI: 6.99), pointing towards a role in the maintenance or regulation of contractile tissues in both the vascular and respiratory systems. Furthermore, [MAGEH1](/details-gene/28986) appears to be a key player in the adaptive immune system, specifically within the T cell compartment. It is significantly expressed in [T follicular helper cell](/details-cell/CL0002038) (CSI: 6.78), [regulatory T cell](/details-cell/CL0000815) (CSI: 6.09), [T-helper 17 cell](/details-cell/CL0000899) (CSI: 4.25), and during T cell development in [double-positive, alpha-beta thymocyte](/details-cell/CL0000809) (CSI: 4.20). This pattern suggests a role in T cell differentiation, lineage stability, or survival. Notably, its expression in [stem cell](/details-cell/CL0000034) and [glioblast](/details-cell/CL0000030) highlights its potential relevance in both development and malignancy. ## Pathways and Molecular Function The known functional annotations for [MAGEH1](/details-gene/28986) provide a molecular basis for its observed cellular expression patterns. Its localization to the [nucleus](/details-go/GO:0005634) and its involvement in the [negative regulation of transcription by rna polymerase ii](/details-go/GO:0000122) are consistent with a role as a transcriptional repressor. This function may be critical for maintaining the specific gene expression programs that define the identity of the diverse cell types in which it is active, such as neurons, smooth muscle cells, and differentiated T cells. The gene's association with the [apoptotic process](/details-go/GO:0006915) is particularly relevant to its high expression in immune and neural cells. In the thymus, apoptosis is a critical mechanism for eliminating self-reactive thymocytes (negative selection), a process involving [double-positive, alpha-beta thymocyte](/details-cell/CL0000809). Similarly, apoptosis is fundamental for sculpting the nervous system during development and for regulating the lifespan of terminally differentiated neurons. The ability of [MAGEH1](/details-gene/28986) to bind other proteins ([protein binding](/details-go/GO:0005515)) is likely central to its mechanism of action in both transcriptional regulation and apoptosis, possibly by forming complexes that repress target genes or modulate cell death pathways. ## Research Directions The diverse yet specific expression pattern of [MAGEH1](/details-gene/28986) across immune, neural, and muscle tissues, combined with its function as a nuclear regulator of apoptosis and transcription, opens several avenues for future research. **Proposed Hypotheses:** 1. Given its high significance in multiple specialized T cell subsets ([T follicular helper cell](/details-cell/CL0002038), [regulatory T cell](/details-cell/CL0000815)), [MAGEH1](/details-gene/28986) likely functions as a transcriptional repressor that stabilizes T cell lineage identity by suppressing genes associated with alternative developmental fates. 2. The prominent expression of [MAGEH1](/details-gene/28986) in both vascular and airway smooth muscle suggests it plays a crucial role in maintaining tissue homeostasis, potentially by regulating anti-apoptotic pathways to protect these cells from stress-induced cell death. 3. In the nervous system, [MAGEH1](/details-gene/28986) may be involved in the long-term survival and functional maintenance of terminally differentiated neurons by repressing pro-apoptotic or developmental genes that are silenced after maturation. **Experimental Approach:** To test the first hypothesis regarding the role of [MAGEH1](/details-gene/28986) in T cell lineage stability, a conditional knockout mouse model using a CD4-Cre driver could be employed. Naive CD4+ T cells isolated from both knockout and wild-type mice would be cultured under polarizing conditions for Th1, Th2, Th17, Tfh, and Treg lineages. The differentiation efficiency and stability of these lineages could be quantified by flow cytometry for key transcription factors (e.g., Bcl6 for Tfh, FoxP3 for Treg) and cytokine production. Concurrently, RNA-seq and ATAC-seq on the differentiated T cell populations could identify the direct and indirect gene targets of [MAGEH1](/details-gene/28986), revealing the specific transcriptional circuits it controls to enforce lineage fidelity. **Therapeutic Potential:** As a member of the Melanoma-associated antigen family, [MAGEH1](/details-gene/28986) has inherent potential as a therapeutic target in oncology, particularly in malignancies where its expression is aberrantly high, such as in [glioblast](/details-cell/CL0000030). As a putative transcriptional repressor, its inhibition could potentially reactivate tumor suppressor genes or induce apoptosis in cancer cells. However, its significant expression in vital healthy tissues, including neurons and various immune cells, presents a major challenge for systemic therapy due to the high risk of on-target, off-tumor toxicity. Therefore, therapeutic strategies would likely require highly targeted delivery systems, such as antibody-drug conjugates or engineered cell therapies, directed against other tumor-specific surface markers to deliver an inhibitor of [MAGEH1](/details-gene/28986) function selectively to malignant cells.

Genular Protein ID: 1266621144

Symbol: MAGH1_HUMAN

Name: Melanoma-associated antigen H1

UniProtKB Accession Codes:

Q9H213 B2R8V9 Q5JRJ3 Q9Y5M2

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CTD 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 6 Ensembl 1 GO 3 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 3 KEGG 1 MANE-Select 1 MIM 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 RefSeq 1 SMART 1 SMR 1 STRING 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 11454705

Title: An overview of the MAGE gene family with the identification of all human members of the family.

PubMed ID: 11454705

PubMed ID: 10948432

Title: Improved PCR-based subtractive hybridization strategy for cloning differentially expressed genes.

PubMed ID: 10948432

DOI: 10.2144/00292st06

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15772651

Title: The DNA sequence of the human X chromosome.

PubMed ID: 15772651

DOI: 10.1038/nature03440

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

Sequence Information:

  • Length: 219
  • Mass: 24441
  • Checksum: 408C59F0CCAA6781
  • Sequence:
    • MPRGRKSRRR RNARAAEENR NNRKIQASEA SETPMAASVV ASTPEDDLSG PEEDPSTPEE 
ASTTPEEASS TAQAQKPSVP RSNFQGTKKS LLMSILALIF IMGNSAKEAL VWKVLGKLGM 
QPGRQHSIFG DPKKIVTEEF VRRGYLIYKP VPRSSPVEYE FFWGPRAHVE SSKLKVMHFV 
ARVRNRCSKD WPCNYDWDSD DDAEVEAILN SGARGYSAP