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MAGEH1 Gene

protein-coding   GIFtS: 52
GCID: GC0XP055495

Melanoma Antigen Family H, 1

  See MAGEH1-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Melanoma Antigen Family H, 11 2     Melanoma-Associated Antigen H12
Apoptosis-Related Protein 12 3     restin2
APR-12 3     Restin3
APR12 3     MAGE-H1 Antigen3
MAGEH2 5     

External Ids:    HGNC: 240921   Entrez Gene: 289862   Ensembl: ENSG000001876017   OMIM: 3005485   UniProtKB: Q9H2133   

Export aliases for MAGEH1 gene to outside databases

Previous GC identifers: GC0XP052453 GC0XP053416 GC0XP054083 GC0XP054445 GC0XP055361 GC0XP052527


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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)

GeneCards Summary for MAGEH1 Gene:
MAGEH1 (melanoma antigen family H, 1) is a protein-coding gene. Diseases associated with MAGEH1 include melanoma. An important paralog of this gene is MAGEE2.

Gene Wiki entry for MAGEH1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000023.10  NC_018934.2  NT_011630.15  
Regulatory elements:
   Regulatory transcription factor binding sites in the MAGEH1 gene promoter:
         TBP   HOXA9   HOXA9B   Sox5   p53   Sp1   PPAR-gamma1   TFIID   Meis-1a   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMAGEH1 promoter sequence
   Search Chromatin IP Primers for MAGEH1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MAGEH1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xp11.21   Ensembl cytogenetic band:  Xp11.21   HGNC cytogenetic band: Xp11.22

MAGEH1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MAGEH1 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP055495:  view genomic region     (about GC identifiers)

Start:
55,478,538 bp from pter      End:
55,479,999 bp from pter
Size:
1,462 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: MAGH1_HUMAN, Q9H213 (See protein sequence)
Recommended Name: Melanoma-associated antigen H1  
Size: 219 amino acids; 24441 Da
Secondary accessions: B2R8V9 Q5JRJ3 Q9Y5M2

Explore the universe of human proteins at neXtProt for MAGEH1: NX_Q9H213

Explore proteomics data for MAGEH1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See MAGEH1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_054780.2  
    ENSEMBL proteins: 
     ENSP00000343706  

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    antibodies-online proteins for MAGEH1 (3 products) 

     
    antibodies-online peptides for MAGEH1

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR002190 MAGE

    Graphical View of Domain Structure for InterPro Entry Q9H213

    ProtoNet protein and cluster: Q9H213

    UniProtKB/Swiss-Prot: MAGH1_HUMAN, Q9H213
    Similarity: Contains 1 MAGE domain


    Find genes that share domains with MAGEH1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Phenotypes:
         1 GenomeRNAi human phenotype for MAGEH1:
     Decreased POU5F1-GFP protein e 

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for MAGEH1

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus3
    plasma membrane2
    cytosol1
    mitochondrion1
    peroxisome1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--

    Find genes that share ontologies with MAGEH1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for MAGEH1 About    
    See pathways by source

    SuperPathContained pathways About
    1p75(NTR)-mediated signaling
    p75(NTR)-mediated signaling


    1 BioSystems Pathway for MAGEH1
        p75(NTR)-mediated signaling


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for MAGEH1
    Interactions:

        GeneGlobe Interaction Network for MAGEH1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 14)

    Selected Interacting proteins for MAGEH1 (Q9H2132, 3 ENSP000003437064) via UniProtKB, MINT, STRING, and/or I2D (see all 15)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PIAS4Q8N2W92, 3, ENSP000002629714MINT-3981254 I2D: score=4 STRING: ENSP00000262971
    TADA3O755282, 3, ENSP000003076844MINT-3979415 I2D: score=4 STRING: ENSP00000307684
    NAP1L5Q96NT12, 3MINT-65242 I2D: score=5 
    MOAP1Q96BY22, 3, ENSP000002988944MINT-66040 I2D: score=5 STRING: ENSP00000298894
    BRD7Q9NPI12, 3, ENSP000003781804MINT-3981237 I2D: score=1 STRING: ENSP00000378180
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006915apoptotic process TAS10948432

    Find genes that share ontologies with MAGEH1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for MAGEH1 (MAGH1)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for MAGEH1 gene: 
    NM_014061.4  

    Unigene Cluster for MAGEH1:

    Melanoma antigen family H, 1
    Hs.279819  [show with all ESTs]
    Unigene Representative Sequence: AF143235
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000342972(uc004dum.3)
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      QuantiFast Probe-based Assays in human, mouse, rat MAGEH1

    Additional mRNA sequence: 

    AF143235.4 AF320912.1 AK313527.1 BC011954.1 

    2 DOTS entries:

    DT.95171104  DT.100646448 

    Selected AceView cDNA sequences (see all 166):

    CB529730 CR605136 AA262707 AI198003 AA570002 H99763 NM_014061 AA385524 
    BU622469 BQ128358 AI864484 CF264829 AA416965 BQ575346 AA339761 BI836581 
    BM453761 CR603973 N92737 AA279758 AI206861 BM926818 BX444702 AI190195 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    MAGEH1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATTTTCCTTA
    MAGEH1 Expression
    About this image


    MAGEH1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Brain (Nervous System)    fully expand to see all 5 entries
             Cerebral Cortex
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Lung (Respiratory System)
             Trachea
    MAGEH1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MAGEH1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.279819
        Custom PCR Arrays for MAGEH1
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of human and mouse.

    Orthologs for MAGEH1 gene from Selected species (see all 5)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mageh11 , 5 melanoma antigen, family H, 11, 5 88.55(n)1
    92.82(a)1
      X (68.46 cM)5
    756251  NM_023788.31  NP_076277.11 
     1530361665 


    ENSEMBL Gene Tree for MAGEH1 (if available)
    TreeFam Gene Tree for MAGEH1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MAGEH1 gene
    MAGEE22  MAGEE12  MAGEC32  
    Selected SIMAP similar genes for MAGEH1 using alignment to 1 protein entry:     MAGH1_HUMAN(see all similar genes):
    NDNL2    MAGED4    MAGED4B    TRO    MAGEB16    MAGE-B1
    MAGEA4    MAGEB1    MAGEE1    MAGEA1    MAGEA8    MAGEB2
    MAGED2    MAGEB17    MAGEC2    MAGEC3    MAGED1    MAGEL2

    Find genes that share paralogs with MAGEH1           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for MAGEH1 (see all 53)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs732166171,2
    C--52525238(+) AGTAAG/TTAGGG 1 -- us2k10--------
    rs576200071,2
    C--52525408(+) TAGGAC/TTGTAC 1 -- us2k12Minor allele frequency- T:0.00NA WA 3
    rs1491021801,2
    --52525549(+) CAGATA/GGAGCC 1 -- us2k10--------
    rs1445025061,2
    --52525591(+) AACGCC/GTGCAA 1 -- us2k10--------
    rs1899919191,2
    --52525598(+) GCAAAA/GGTTAT 1 -- us2k10--------
    rs1478585411,2
    --52525965(+) ACTTTA/GTAGAT 1 -- us2k10--------
    rs1413321361,2
    C--52525966(+) CTTTAC/TAGATG 1 -- us2k10--------
    rs172508721,2
    C,F,H--52526289(+) AAACCT/CTGGAG 1 -- us2k113Minor allele frequency- C:0.02NA NS EA 980
    rs1379707781,2
    C--52526483(+) AGTTTA/GCTTTT 1 -- us2k10--------
    rs1407795751,2
    C--52526548(+) ACATAC/TATACA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for MAGEH1 (55478538 - 55479999 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for MAGEH1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2740175CNV Deletion23290073
    nsv435891CNV Deletion17901297
    nsv469510CNV Complex16826518
    nsv7448OTHER Inversion18451855

    Locus Specific Mutation Databases (LSDB): MAGEH1

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MAGEH1
    DNA2.0 Custom Variant and Variant Library Synthesis for MAGEH1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 300548    OMIM disorders: --

    1 disease for MAGEH1:    
    About MalaCards
    melanoma


    Find genes that share disorders with MAGEH1           About GenesLikeMe


    Export disorders for MAGEH1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for MAGEH1 gene, integrated from 10 sources (see all 22):
    (articles sorted by number of sources associating them with MAGEH1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (Nature 2005)
    2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    3. The p75 neurotrophin receptor interacts with multiple MAGE proteins. (PubMed id 12414813)1, 3 Tcherpakov M....Fainzilber M. (J. Biol. Chem. 2002)
    4. An overview of the MAGE gene family with the identification of all human members of the family. (PubMed id 11454705)1, 2 Chomez P.... Lucas S. (Cancer Res. 2001)
    5. Improved PCR-based subtractive hybridization strategy for cloning differentially expressed genes. (PubMed id 10948432)1, 2 Zhu F.... Wang C.J. (BioTechniques 2000)
    6. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)1 Povlsen L.K....Choudhary C. (Nat. Cell Biol. 2012)
    7. Apoptosis related protein-1 triggers melanoma cell death via interaction with the juxtamembrane region of p75 neurotrophin receptor. (PubMed id 21418516)1 Selimovic D....Hassan M. (J. Cell. Mol. Med. 2012)
    8. Toward an understanding of the protein interaction network of the human liver. (PubMed id 21988832)1 Wang J....Yang X. (Mol. Syst. Biol. 2011)
    9. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)
    10. Interactions between the Nse3 and Nse4 components of the SMC5-6 complex identify evolutionarily conserved interactions between MAGE and EID Families. (PubMed id 21364888)1 Hudson J.J....Palecek J. (PLoS ONE 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 28986 HGNC: 24092 AceView: MAGEH1 Ensembl:ENSG00000187601 euGenes: HUgn28986
    ECgene: MAGEH1 H-InvDB: MAGEH1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for MAGEH1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for MAGEH1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for MAGEH1 gene:
    Search GeneIP for patents involving MAGEH1

    GeneCards and IP:
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    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from genOway)
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