This gene belongs to the non-CT (non cancer/testis) subgroup of the melanoma-associated antigen (MAGE) superfamily. The encoded protein is likely associated with apoptosis, cell cycle arrest, growth inhibition or cell differentiation. The protein may be involved in the atRA (all-trans retinoic acid) signaling through the STAT1-alpha (signal transducer and activator of transcrip... See more...

Aliases for MAGEH1 Gene

Aliases for MAGEH1 Gene

  • MAGE Family Member H1 2 3 5
  • APR1 2 3 4
  • Melanoma-Associated Antigen H1 3 4
  • Apoptosis-Related Protein 1 3 4
  • Melanoma Antigen Family H1 2 3
  • Restin 3 4
  • APR-1 3 4
  • Melanoma Antigen Family H, 1 3
  • MAGE-H1 Antigen 4
  • MAGEH1 5
  • MAGEH 3

External Ids for MAGEH1 Gene

Previous GeneCards Identifiers for MAGEH1 Gene

  • GC0XP052453
  • GC0XP053416
  • GC0XP054083
  • GC0XP054445
  • GC0XP055361
  • GC0XP055495
  • GC0XP052527

Summaries for MAGEH1 Gene

Entrez Gene Summary for MAGEH1 Gene

  • This gene belongs to the non-CT (non cancer/testis) subgroup of the melanoma-associated antigen (MAGE) superfamily. The encoded protein is likely associated with apoptosis, cell cycle arrest, growth inhibition or cell differentiation. The protein may be involved in the atRA (all-trans retinoic acid) signaling through the STAT1-alpha (signal transducer and activator of transcription 1-alpha) pathway. [provided by RefSeq, Aug 2013]

CIViC Summary for MAGEH1 Gene

GeneCards Summary for MAGEH1 Gene

MAGEH1 (MAGE Family Member H1) is a Protein Coding gene. Diseases associated with MAGEH1 include Necatoriasis and Melanoma. Among its related pathways are p75(NTR)-mediated signaling. An important paralog of this gene is NSMCE3.

Gene Wiki entry for MAGEH1 Gene

No data available for UniProtKB/Swiss-Prot Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MAGEH1 Gene

Genomics for MAGEH1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MAGEH1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XJ055450 Promoter/Enhancer 1.4 Ensembl ENCODE CraniofacialAtlas 260.7 +0.4 394 3.4 MYC YY1 SMAD5 CHD2 GABPA ELF1 SP2 ZNF316 GABPB1 ZBTB33 MAGEH1 HSALNG0138119 MIR4536-1 MIR4536-2 KLF8 piR-60572-001 USP51
GH0XJ055488 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas 11 +37.2 37200 4.1 YY1 SMAD5 MNT SIN3A MAFF SP2 ZNF316 MAFK POLR2A MAFG LOC101928692 USP51 lnc-MAGEH1-1 lnc-USP51-1 MAGEH1 KLF8
GH0XJ055716 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 8.8 +266.0 266028 2.5 SP1 MYC ZNF580 POLR2A YY1 CTCF REST CEBPB SIN3A TRIM22 HSALNG0138128 RRAGB ENSG00000227486 KLF8 MAGEH1 piR-44878-075
GH0XJ056067 Enhancer 0.9 Ensembl ENCODE dbSUPER 9.2 +615.8 615774 4.6 EBF1 ZNF146 IKZF1 NR2F1 TCF12 PKNOX1 TARDBP RUNX3 GATAD2B MAGEH1 ENSG00000227486 UBQLN2 MK280607-177 piR-52368-177 KLF8
GH0XJ055866 Enhancer 0.8 Ensembl ENCODE 9.2 +415.8 415765 2 NFIC BCL11A ZNF592 EBF1 BHLHE40 BATF ELF1 NR2F1 ATF2 JUNB ENSG00000227486 MAGEH1 HSALNG0138142 piR-33432-567 HSALNG0138141 KLF8 RRAGB
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MAGEH1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MAGEH1

Top Transcription factor binding sites by QIAGEN in the MAGEH1 gene promoter:
  • HOXA9
  • HOXA9B
  • Meis-1
  • Meis-1a
  • p53
  • PPAR-gamma1
  • Sox5
  • Sp1
  • TBP
  • TFIID

Genomic Locations for MAGEH1 Gene

Latest Assembly
chrX:55,452,127-55,453,566
(GRCh38/hg38)
Size:
1,440 bases
Orientation:
Plus strand

Previous Assembly
chrX:55,478,560-55,479,999
(GRCh37/hg19 by Entrez Gene)
Size:
1,440 bases
Orientation:
Plus strand

chrX:55,478,538-55,479,998
(GRCh37/hg19 by Ensembl)
Size:
1,461 bases
Orientation:
Plus strand

Genomic View for MAGEH1 Gene

Genes around MAGEH1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MAGEH1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MAGEH1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MAGEH1 Gene

Proteins for MAGEH1 Gene

  • Protein details for MAGEH1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H213-MAGH1_HUMAN
    Recommended name:
    Melanoma-associated antigen H1
    Protein Accession:
    Q9H213
    Secondary Accessions:
    • B2R8V9
    • Q5JRJ3
    • Q9Y5M2

    Protein attributes for MAGEH1 Gene

    Size:
    219 amino acids
    Molecular mass:
    24441 Da
    Quaternary structure:
    No Data Available

neXtProt entry for MAGEH1 Gene

Post-translational modifications for MAGEH1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MAGEH1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MAGEH1 Gene

Domains & Families for MAGEH1 Gene

Gene Families for MAGEH1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for MAGEH1 Gene

InterPro:

Suggested Antigen Peptide Sequences for MAGEH1 Gene

GenScript: Design optimal peptide antigens:
  • Restin (MAGH1_HUMAN)
genes like me logo Genes that share domains with MAGEH1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for MAGEH1 Gene

Function for MAGEH1 Gene

Phenotypes From GWAS Catalog for MAGEH1 Gene

Gene Ontology (GO) - Molecular Function for MAGEH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with MAGEH1: view
genes like me logo Genes that share phenotypes with MAGEH1: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MAGEH1

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for MAGEH1 Gene

Localization for MAGEH1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MAGEH1 gene
Compartment Confidence
nucleus 3
plasma membrane 2
cytosol 2
extracellular 1
cytoskeleton 1
mitochondrion 1
lysosome 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli (3)
  • Nucleoli rim (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MAGEH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with MAGEH1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for MAGEH1 Gene

Pathways & Interactions for MAGEH1 Gene

PathCards logo

SuperPathways for MAGEH1 Gene

SuperPathway Contained pathways
1 p75(NTR)-mediated signaling
genes like me logo Genes that share pathways with MAGEH1: view

Pathways by source for MAGEH1 Gene

1 BioSystems pathway for MAGEH1 Gene

Gene Ontology (GO) - Biological Process for MAGEH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006915 apoptotic process TAS 10948432
genes like me logo Genes that share ontologies with MAGEH1: view

No data available for SIGNOR curated interactions for MAGEH1 Gene

Drugs & Compounds for MAGEH1 Gene

No Compound Related Data Available

Transcripts for MAGEH1 Gene

mRNA/cDNA for MAGEH1 Gene

1 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MAGEH1

Alternative Splicing Database (ASD) splice patterns (SP) for MAGEH1 Gene

No ASD Table

Relevant External Links for MAGEH1 Gene

GeneLoc Exon Structure for
MAGEH1

Expression for MAGEH1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MAGEH1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for MAGEH1 Gene

This gene is overexpressed in Fetal Brain (52.3) and Islet of Langerhans (16.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for MAGEH1 Gene



Protein tissue co-expression partners for MAGEH1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MAGEH1

SOURCE GeneReport for Unigene cluster for MAGEH1 Gene:

Hs.279819

Evidence on tissue expression from TISSUES for MAGEH1 Gene

  • Nervous system(4.8)
  • Lung(4.2)
  • Skin(2.2)
  • Intestine(2.1)
genes like me logo Genes that share expression patterns with MAGEH1: view

Primer products for research

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for MAGEH1 Gene

Orthologs for MAGEH1 Gene

This gene was present in the common ancestor of mammals.

Orthologs for MAGEH1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia MAGEH1 30
  • 100 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Mageh1 29 16 30
  • 88.55 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia MAGEH1 29 30
  • 88.22 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Mageh1 29
  • 88.21 (n)
Dog
(Canis familiaris)
Mammalia MAGEH1 29 30
  • 87.41 (n)
OneToOne
Species where no ortholog for MAGEH1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for MAGEH1 Gene

ENSEMBL:
Gene Tree for MAGEH1 (if available)
TreeFam:
Gene Tree for MAGEH1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MAGEH1: view image
Alliance of Genome Resources:
Additional Orthologs for MAGEH1

Paralogs for MAGEH1 Gene

Variants for MAGEH1 Gene

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for MAGEH1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for MAGEH1 Gene

Variant ID Type Subtype PubMed ID
esv2740175 CNV deletion 23290073
nsv435891 CNV deletion 17901297
nsv469510 CNV gain 16826518
nsv7448 OTHER inversion 18451855

Variation tolerance for MAGEH1 Gene

Residual Variation Intolerance Score: 13.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.18; 4.12% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MAGEH1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MAGEH1
Leiden Open Variation Database (LOVD)
MAGEH1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MAGEH1 Gene

Disorders for MAGEH1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for MAGEH1 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
necatoriasis
melanoma
  • malignant melanoma
febrile seizures, familial, 9
  • feb9
yaws
  • bouba
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for MAGEH1

genes like me logo Genes that share disorders with MAGEH1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MAGEH1 Gene

Publications for MAGEH1 Gene

  1. The DNA sequence of the human X chromosome. (PMID: 15772651) Ross MT … Bentley DR (Nature 2005) 3 4
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  3. The p75 neurotrophin receptor interacts with multiple MAGE proteins. (PMID: 12414813) Tcherpakov M … Fainzilber M (The Journal of biological chemistry 2002) 2 3
  4. An overview of the MAGE gene family with the identification of all human members of the family. (PMID: 11454705) Chomez P … Lucas S (Cancer research 2001) 3 4
  5. Improved PCR-based subtractive hybridization strategy for cloning differentially expressed genes. (PMID: 10948432) Zhu F … Wang CJ (BioTechniques 2000) 3 4

Products for MAGEH1 Gene

Sources for MAGEH1 Gene