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

MAGED1 Gene

protein-coding   GIFtS: 69
GCID: GC0XP051562

Melanoma Antigen Family D, 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 D, 11 2     MAGE-D1 Antigen2 3
Neurotrophin Receptor-Interacting MAGE Homolog2 3     DLXIN-12
NRAGE2 3     Melanoma-Associated Antigen D12
MAGE Tumor Antigen CCF2 3     

External Ids:    HGNC: 68131   Entrez Gene: 95002   Ensembl: ENSG000001792227   OMIM: 3002245   UniProtKB: Q9Y5V33   

Export aliases for MAGED1 gene to outside databases

Previous GC identifers: GC0XU990274 GC0XP049684 GC0XP050230 GC0XP050553 GC0XP051469 GC0XP048983


(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 MAGED1 Gene:
This gene is a member of the melanoma antigen gene (MAGE) family. Most of the genes of this family encode tumor
specific antigens that are not expressed in normal adult tissues except testis. Although the protein encoded by
this gene shares strong homology with members of the MAGE family, it is expressed in almost all normal adult
tissues. This gene has been demonstrated to be involved in the p75 neurotrophin receptor mediated programmed cell
death pathway. Three transcript variants encoding two different isoforms have been found for this gene. (provided
by RefSeq, Jul 2008)

GeneCards Summary for MAGED1 Gene: 
MAGED1 (melanoma antigen family D, 1) is a protein-coding gene. Diseases associated with MAGED1 include seborrheic keratosis, and melanoma, and among its related super-pathways are Development Neurotrophin family signaling and NRAGE signals death through JNK. GO annotations related to this gene include protein binding and transcription coactivator activity. An important paralog of this gene is MAGEC2.

UniProtKB/Swiss-Prot: MAGD1_HUMAN, Q9Y5V3
Function: Involved in the apoptotic response after nerve growth factor (NGF) binding in neuronal cells. Binds
NGFR/p75NTR and antagonizes its association with NTRK1/TrkA, inhibits cell cycle progression, and facilitates
NGFR-mediated apoptosis. May act as a regulator of the function of DLX family members. May regulate TP53/p53
transcriptional activity and inhibit cell proliferation. Enhances TP53 phosphorylation and accumulation. May
enhance ubiquitin ligase activity of RING-type zinc finger-containing E3 ubiquitin-protein ligases. Proposed to
act through recruitment and/or stabilization of the Ubl-conjugating enzyme (E2) at the E3:substrate complex

Gene Wiki entry for MAGED1 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  NT_011638.13  NC_018934.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the MAGED1 gene promoter:
         AhR   RP58   AML1a   Roaz   MZF-1   POU2F1   POU2F1a   Zic1   Pax-4a   LyF-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): MAGED1 promoter sequence
   Search SABiosciences Chromatin IP Primers for MAGED1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MAGED1


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

Entrez Gene cytogenetic band: Xp11.23   Ensembl cytogenetic band:  Xp11.22   HGNC cytogenetic band: Xp11.23

MAGED1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MAGED1 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP051562:  view genomic region     (about GC identifiers)

Start:
51,546,103 bp from pter      End:
51,645,453 bp from pter
Size:
99,351 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: MAGD1_HUMAN, Q9Y5V3 (See protein sequence)
Recommended Name: Melanoma-associated antigen D1  
Size: 778 amino acids; 86161 Da
Subunit: Interacts with DLX5, DLX7 and MSX2 and forms homomultimers. Interacts with UNC5A (By similarity).
Interacts with the p75 neurotrophin receptor. Interacts with TRIM28 and PJA1
Subcellular location: Cytoplasm (By similarity). Cell membrane; Peripheral membrane protein (By similarity).
Note=Expression shifts from the cytoplasm to the plasma membrane upon stimulation with NGF (By similarity)
Sequence caution: Sequence=AAD31421.1; Type=Erroneous initiation; Sequence=AAG35551.1; Type=Erroneous initiation;
Secondary accessions: Q5VSH6 Q8IZ84 Q8WY92 Q9H352 Q9HBT4 Q9UF36
Alternative splicing: 2 isoforms:  Q9Y5V3-1   Q9Y5V3-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for MAGED1: NX_Q9Y5V3

Explore proteomics data for MAGED1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9Y5V3

  • MAGED1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    MAGED1 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001005332.1  NP_001005333.1  NP_008917.3  

    ENSEMBL proteins: 
     ENSP00000364927   ENSP00000364874   ENSP00000325333   ENSP00000364847  
    Reactome Protein details: Q9Y5V3
    Human Recombinant Protein Products for MAGED1: 
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    Novus Biologicals MAGED1 Proteins
    Novus Biologicals MAGED1 Lysates
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for MAGED1 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--
    GO:0005886plasma membrane IEA--
    GO:0043234protein complex IDA15930293

    MAGED1 for ontologies           About GeneDecksing



    MAGED1 Antibody Products: 
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    Assay Products for MAGED1: 
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    Cloud-Clone Corp. ELISAs for MAGED1 
    Cloud-Clone Corp. CLIAs for MAGED1


    (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 Q9Y5V3

    ProtoNet protein and cluster: Q9Y5V3

    1 Blocks protein domain: IPB002190 MAGE protein

    UniProtKB/Swiss-Prot: MAGD1_HUMAN, Q9Y5V3
    Similarity: Contains 1 MAGE domain


    MAGED1 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

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MAGD1_HUMAN, Q9Y5V3
    Function: Involved in the apoptotic response after nerve growth factor (NGF) binding in neuronal cells. Binds
    NGFR/p75NTR and antagonizes its association with NTRK1/TrkA, inhibits cell cycle progression, and facilitates
    NGFR-mediated apoptosis. May act as a regulator of the function of DLX family members. May regulate TP53/p53
    transcriptional activity and inhibit cell proliferation. Enhances TP53 phosphorylation and accumulation. May
    enhance ubiquitin ligase activity of RING-type zinc finger-containing E3 ubiquitin-protein ligases. Proposed to
    act through recruitment and/or stabilization of the Ubl-conjugating enzyme (E2) at the E3:substrate complex

         Genatlas biochemistry entry for MAGED1:
    putative melanoma antigen,family D,member 1,expressed in breast,colon,brain,fetal tissue,tumoral cell
    (breast,lung,prostate,Wilms),not recognized by T cells but expressed only in tumor and germ-line cells

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003713transcription coactivator activity IEA--
    GO:0005515protein binding IPI15930293
         
    MAGED1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for MAGED1:
     Increased gamma-H2AX phosphory 

         8 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Maged1):
     behavior/neurological  cellular  homeostasis/metabolism  immune system  integument 
     nervous system  no phenotypic analysis  vision/eye 

    MAGED1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for MAGED1: Maged1tm1.1Urfm Maged1tm1Tnab

       inGenious Targeting Laboratory - Custom generated mouse model solutions for MAGED1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for MAGED1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MAGED1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MAGED1 

    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmidMAGED1 3' UTR sequence
    Inhib. RNA
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    (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 MAGED1 About   (see all 8)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Development HGF signaling pathway
    Development Neurotrophin family signaling0.45
    Neurotrophin signaling pathway0.36
    2Cell death signalling via NRAGE, NRIF and NADE
    Cell death signalling via NRAGE, NRIF and NADE0.74
    p75 NTR receptor-mediated signalling0.73
    NRAGE signals death through JNK0.74
    3CDK-mediated phosphorylation and removal of Cdc6
    Regulation of Apoptosis0.82
    Apoptosis0.39
    4Signaling by FGFR
    Signalling by NGF0.71
    5Signaling by GPCR
    Signal Transduction0.55

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for MAGED1
        Development Neurotrophin family signaling


    1 GeneGo (Thomson Reuters) Pathway for MAGED1
        Development Neurotrophin family signaling

    2 BioSystems Pathways for MAGED1
        p75(NTR)-mediated signaling
    Neurotrophic factor-mediated Trk receptor signaling


    5/8        Reactome Pathways for MAGED1 (see all 8)
        Regulation of Apoptosis
    Role of DCC in regulating apoptosis
    Signal Transduction
    Cell death signalling via NRAGE, NRIF and NADE
    Signalling by NGF


    1         Kegg Pathway  (Kegg details for MAGED1):
        Neurotrophin signaling pathway


    MAGED1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for MAGED1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/89 Interacting proteins for MAGED1 (Q9Y5V31, 2, 3 ENSP000003648474) via UniProtKB, MINT, STRING, and/or I2D (see all 89)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PJA1Q8NG271, 3, ENSP000003550144EBI-716006,EBI-714606 I2D: score=4 STRING: ENSP00000355014
    RBFOX1Q9NWB12, 3, ENSP000003091174MINT-2866864 I2D: score=3 STRING: ENSP00000309117
    BAG6P463793, ENSP000003651314I2D: score=2 STRING: ENSP00000365131
    ENSG00000096155P463793I2D: score=2 
    ENSG00000227761P463793I2D: score=2 
    About this table

    Gene Ontology (GO): 5/12 biological process terms (GO ID links to tree view) (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006355regulation of transcription, DNA-dependent TAS15930293
    GO:0006357regulation of transcription from RNA polymerase II promoter IEA--
    GO:0006915apoptotic process TAS--
    GO:0042981regulation of apoptotic process TAS15930293
    GO:0043065positive regulation of apoptotic process TAS--

    MAGED1 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 MAGED1 (MAGD1)

    Search CenterWatch for drugs/clinical trials and news about MAGED1 / MAGD1

    (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 MAGED1 gene (3 alternative transcripts): 
    NM_001005332.1  NM_001005333.1  NM_006986.3  

    Unigene Cluster for MAGED1:

    Melanoma antigen family D, 1
    Hs.5258  [show with all ESTs]
    Unigene Representative Sequence: NM_001005333
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000375772(uc004dpm.3) ENST00000375722 ENST00000326587(uc011mnx.1 uc004dpo.3)
    ENST00000375695(uc004dpn.3) ENST00000486579 ENST00000470461 ENST00000494718
    ENST00000485420 ENST00000482188 ENST00000482599 ENST00000473931
    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmidMAGED1 3' UTR sequence
    Inhib. RNA
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MAGED1

    Additional mRNA sequence: 

    AF124440.1 AF132205.1 AF217963.1 AF258554.1 AF300328.1 AK298574.1 AK308706.1 AK314053.1 
    AL133628.1 BC014070.2 BC032473.2 

    21 DOTS entries:

    DT.101963599  DT.95206453  DT.100059993  DT.219594  DT.91860774  DT.100880296  DT.100051130  DT.100841503 
    DT.100880302  DT.100880308  DT.95228626  DT.100880309  DT.92463530  DT.95228623  DT.100880299  DT.121317465 
    DT.92463513  DT.92463514  DT.95228627  DT.100059994  DT.91962654 

    24/1072 AceView cDNA sequences (see all 1072):

    BQ181287 AW474000 BU849518 BU177042 BU527549 CA415627 BU849746 BQ688333 
    BU161316 BU168807 BU189265 BQ898148 BU190480 BF525584 AF124440 T06682 
    AI916903 AI074540 AW732486 CA431011 T31438 T81022 BU527145 BE018730 

    GeneLoc Exon Structure

    5/9 Alternative Splicing Database (ASD) splice patterns (SP) for MAGED1 (see all 9)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b · 4c · 4d · 4e ^ 5a · 5b · 5c ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14a · 14b · 14c ^ 15
    SP1:                                                              -                                                           -                       -         
    SP2:                          -                                   -                                                           -                       -         
    SP3:                          -                       -     -     -     -     -     -     -     -     -     -                 -                                 
    SP4:                          -           -     -     -     -     -     -     -                                                                                 
    SP5:                          -                 -     -     -     -     -                                                                                       


    ECgene alternative splicing isoforms for MAGED1

    (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

    MAGED1 expression in normal human tissues (normalized intensities)      MAGED1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CAAGATAAAT
    MAGED1 Expression
    About this image


    MAGED1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/8 selected tissues (see all 8) fully expand
     
     Blood (Hematopoietic System)    fully expand to see all 2 entries
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
             mouse/organ system/cardiovascular system   
     
     Neural Crest (Gastrulation Derivatives)
             mesenchyme   
     
     Mesoderm (Gastrulation Derivatives)
             mesenchyme   
     
     Lower Urinary Tract (Urinary System)
             visceral organ   
     
     Heart (Cardiovascular System)
             mouse/organ system/cardiovascular system   

    See MAGED1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MAGED1

    SOURCE GeneReport for Unigene cluster: Hs.5258

    UniProtKB/Swiss-Prot: MAGD1_HUMAN, Q9Y5V3
    Tissue specificity: Expressed in bone marrow stromal cells from both multiple myeloma patients and healthy donors.
    Seems to be ubiquitously expressed

        SABiosciences Expression via Pathway-Focused PCR Array including MAGED1: 
              Neurotrophins & Receptors in human mouse rat

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MAGED1

    (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 chordates.

    Orthologs for MAGED1 gene from 4/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Maged11 , 5 melanoma antigen, family D, 11, 5 88.62(n)1
    88.84(a)1
      X (41.56 cM)5
    942751  NM_019791.21  NP_062765.11 
     945354745 
    chicken
    (Gallus gallus)
    Aves MAGE6
    Mage protein
    39(a)
    1 → many
    JH376257.1(2550-4829)
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    35(a)
    1 → many
    1(205667349-205679701)
    zebrafish
    (Danio rerio)
    Actinopterygii ndnl26
    necdin-like 2
    33(a)
    1 → many
    23(13012414-13025121)


    ENSEMBL Gene Tree for MAGED1 (if available)
    TreeFam Gene Tree for MAGED1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for MAGED1 gene
    MAGEC22  MAGEA9B2  MAGEB52  MAGEB162  MAGEB12  MAGEB42  MAGEC12  MAGED42  
    MAGEA82  MAGED22  MAGEA122  MAGEA92  MAGEB172  MAGEB102  MAGEA62  MAGEA22  
    MAGEA32  MAGEB22  NDN2  MAGEB32  MAGED4B2  MAGEA42  MAGEA12  MAGEA102  
    MAGEB182  MAGEA2B2  MAGEB62  MAGEL22  TRO2  MAGEA112  NDNL22  MAGEF12  
    18/26 SIMAP similar genes for MAGED1 using alignment to 1 protein entry:     MAGD1_HUMAN(see all similar genes):
    FLJ00163    MAGED2    MAGEH1    NDNL2    TRO    MAGEA4
    MAGEA12    MAGEC4    MAGEF1    MAGE-B1    MAGEB1    MAGEB2
    MAGEB3    MAGEA2B    MAGEA2    MAGEA9    MAGEA9B    NDN

    MAGED1 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

    10/1120 SNPs in MAGED1 are shown (see all 1120)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1419017201,2
    C--51549887(+) CATAA-/TTTTTT 2 -- int10--------
    rs1902787231,2
    --51556250(+) CAGGCA/GCTCTG 1 -- us2k10--------
    rs1818821871,2
    --51556559(+) TCTAGC/GTGATA 1 -- us2k10--------
    rs1858664941,2
    C--51556731(+) GAATTA/TAAAAA 1 -- us2k10--------
    rs125596071,2
    C,H--51556964(+) gattaG/Actgga 1 -- us2k12Minor allele frequency- A:0.00NA 4
    rs126882811,2
    H--51557055(+) agtgaA/Cctatt 1 -- us2k14Minor allele frequency- C:0.00NS EA 402
    rs1910098381,2
    --51557085(+) GCCTGA/GACAAC 1 -- us2k10--------
    rs78792201,2
    C,A--51557104(+) accctA/Gtctca 1 -- us2k12Minor allele frequency- G:0.00NA 3
    rs1818340971,2
    --51557122(+) AAAAAA/CAAGGA 1 -- us2k10--------
    rs1851457071,2
    --51557312(+) ATTGCC/TAGTTT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for MAGED1 (51546103 - 51645453 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for MAGED1:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2664331CNV Deletion23128226
    nsv6906CNV Loss18451855
    nsv516643CNV Gain19592680


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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 300224    OMIM disorders: --

    14 diseases for MAGED1:    About MalaCards
    seborrheic keratosis    melanoma    keratosis    prader-willi syndrome
    multiple myeloma    myeloma    esophagitis    pancreatic cancer
    hepatitis b    pancreatitis    hepatitis    breast cancer
    prostatitis    neuronitis

    2 diseases from the University of Copenhagen DISEASES database for MAGED1:
    Prader-Willi syndrome     Seborrheic keratosis

    MAGED1 for disorders           About GeneDecksing

    2 Novoseek inferred disease relationships for MAGED1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    melanoma 32.8 4 8935336 (1), 9673893 (1)
    tumors 0 2 17453828 (2)

    Genetic Association Database (GAD): MAGED1
    Human Genome Epidemiology (HuGE) Navigator: MAGED1 (2 documents)

    Export disorders for MAGED1 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 MAGED1 gene, integrated from 9 sources (see all 67):
    (articles sorted by number of sources associating them with MAGED1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of a new, unorthodox member of the MAGE gene family. (PubMed id 10409427)1, 2, 3 Pold M.... Berenson J.R. (1999)
    2. NRAGE, a novel MAGE protein, interacts with the p75 neurotrophin receptor and facilitates nerve growth factor dependent apoptosis. (PubMed id 10985348)1, 2, 9 Salehi A.H.... Barker P.A. (2000)
    3. hNRAGE, a human neurotrophin receptor interacting MAGE homologue, regulates p53 transcriptional activity and inhibits cell proliferation. (PubMed id 15094062)1, 2, 9 Wen C.-J.... Li C.-J. (2004)
    4. A new melanoma antigen-encoding gene subfamily in human chromosome X. (PubMed id 11280991)1, 2, 9 Zhang C.G.... He F.C. (2001)
    5. MAGE-RING protein complexes comprise a family of E3 u biquitin ligases. (PubMed id 20864041)1, 2 Doyle J.M....Potts P.R. (2010)
    6. The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (2005)
    7. 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)
    8. Identification of the translational initiation codon in human MAGED1. (PubMed id 11087672)1, 2 Kubu C.J.... Verdi J.M. (2000)
    9. MAGE-D1 inhibits proliferation, migration and invasio n of human breast cancer cells. (PubMed id 19639218)1, 9 Du Q....Fang W.G. (2009)
    10. Human NRAGE disrupts E-cadherin/beta-catenin regulated homotypic cell-cell adhesion. (PubMed id 16125672)1, 9 Xue B....Li C. (2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    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: 9500 HGNC: 6813 AceView: MAGED1 Ensembl:ENSG00000179222 euGenes: HUgn9500
    ECgene: MAGED1 Kegg: 9500 H-InvDB: MAGED1

    (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 MAGED1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for MAGED1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for MAGED1 gene:
    Search GeneIP for patents involving MAGED1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

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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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