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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

MAGEH1 Gene

protein-coding   GIFtS: 53
GCID: GC0XP055495

Melanoma Antigen Family H, 1

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

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     

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 ependymoma, and 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NC_018934.2  NT_011630.14  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for MAGEH1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9H213

  • MAGEH1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    MAGEH1 Protein Expression
    REFSEQ proteins: NP_054780.2  
    ENSEMBL proteins: 
     ENSP00000343706  

    Human Recombinant Protein Products for MAGEH1: 
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    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
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    Cloud-Clone Corp. Proteins for MAGEH1 

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

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

    MAGEH1 for ontologies           About GeneDecksing



    MAGEH1 Antibody Products: 
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    Cloud-Clone Corp. CLIAs for MAGEH1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    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


    MAGEH1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Phenotypes:
         1 GenomeRNAi human phenotype for MAGEH1:
     Decreased POU5F1-GFP protein e 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for MAGEH1 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MAGEH1 
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    miRNA
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    Inhib. RNA
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MAGEH1


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    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


    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for MAGEH1

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

    5/15 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 (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006915apoptotic process TAS10948432

    MAGEH1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for MAGEH1 (MAGH1)

    Search CenterWatch for drugs/clinical trials and news about 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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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)
    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmidMAGEH1 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for MAGEH1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MAGEH1
    Clone
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                         Customized lentivirus expression plasmids for stable overexpression of MAGEH1 
    Primer
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    OriGene qPCR primer pairs and template standards for MAGEH1
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MAGEH1
      QIAGEN 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 

    24/166 AceView cDNA sequences (see all 166):

    H99763 CD172467 CR605136 AA864521 BM926818 AI887770 AI206861 AA262707 
    BU579689 AA385524 AA570002 CB529730 AI864484 BQ128358 BM544274 AI198003 
    AA255602 BC011954 N92737 BU622469 AA339761 BU687552 AA279758 AA814424 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    MAGEH1 expression in normal human tissues (normalized intensities)      MAGEH1 embryonic expression: see
    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 
     5/11 selected tissues (see all 11) fully expand
     
     Brain (Nervous System)    fully expand to see all 9 entries
             Thalamus
             ganglion/cranial   
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Limb (Muscoskeletal System)    fully expand to see all 2 entries
             limb/hindlimb   
     
     Peripheral Nervous System (Nervous System)
             spinal/ganglion/dorsal root ganglion   
     
     Spinal Cord (Nervous System)
             spinal/ganglion/dorsal root ganglion   

    See MAGEH1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MAGEH1

    SOURCE GeneReport for Unigene cluster: Hs.279819
        SABiosciences Custom PCR Arrays for MAGEH1
    Primer
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MAGEH1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MAGEH1

    (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)
    About This Section

    This gene was present in the common ancestor of human and mouse.

    Orthologs for MAGEH1 gene from 1/5 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 88.38(n)1
    93.12(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)
    About This Section
    Paralogs for MAGEH1 gene
    MAGEE22  MAGEE12  MAGEC32  
    18/31 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

    MAGEH1 for paralogs           About GeneDecksing



    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/53 SNPs in MAGEH1 are shown (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
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    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, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 300548    OMIM disorders: --

    2 diseases for MAGEH1:    About MalaCards
    ependymoma    melanoma


    MAGEH1 for disorders           About GeneDecksing


    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)
    About This Section

    PubMed articles for MAGEH1 gene, integrated from 9 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. (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. (2004)
    3. The p75 neurotrophin receptor interacts with multiple MAGE proteins. (PubMed id 12414813)1, 3 Tcherpakov M....Fainzilber M. (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. (2001)
    5. Improved PCR-based subtractive hybridization strategy for cloning differentially expressed genes. (PubMed id 10948432)1, 2 Zhu F....Wang C.J. (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. (2012)
    7. Apoptosis related protein-1 triggers melanoma cell dea th via interaction with the juxtamembrane region of p75 neurotrophin receptor. (PubMed id 21418516)1 Selimovic D....Hassan M. (2012)
    8. Toward an understanding of the protein interaction net work of the human liver. (PubMed id 21988832)1 Wang J....Yang X. (2011)
    9. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (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. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 28986 HGNC: 24092 AceView: MAGEH1 Ensembl:ENSG00000187601 euGenes: HUgn28986
    ECgene: MAGEH1 H-InvDB: MAGEH1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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:
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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