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MAGEB1 Gene

protein-coding   GIFtS: 50
GCID: GC0XP030261

Melanoma Antigen Family B, 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)
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Aliases
Melanoma Antigen Family B, 11 2     MAGE-XP Antigen2 3
DAM102 3 5     Cancer/Testis Antigen Family 31
MAGEL12 3 5     Member 11
DSS/AHC Critical Interval MAGE Superfamily 101 2     MAGE-Xp2
Cancer/Testis Antigen 3.12 3     Cancer/Testis Antigen Family 3, Member 12
CT3.12 3     Melanoma-Associated Antigen B12
DSS-AHC Critical Interval MAGE Superfamily 102 3     MAGEXP3
MAGE-B1 Antigen2 3     

External Ids:    HGNC: 68081   Entrez Gene: 41122   Ensembl: ENSG000002141077   OMIM: 3000975   UniProtKB: P433663   

Export aliases for MAGEB1 gene to outside databases

Previous GC identifers: GC0XP028761 GC0XP028944 GC0XP029463 GC0XP029623 GC0XP030021 GC0XP030170 GC0XP027998


(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 MAGEB1 Gene:
This gene is a member of the MAGEB gene family. The members of this family have their entire coding sequences
located in the last exon, and the encoded proteins show 50 to 68% sequence identity to each other. The promoters
and first exons of the MAGEB genes show considerable variability, suggesting that the existence of this gene
family enables the same function to be expressed under different transcriptional controls. This gene is localized
in the DSS (dosage-sensitive sex reversal) critical region, and expressed in testis and in a significant fraction
of tumors of various histological types. This gene and other MAGEB members are clustered on chromosome Xp22-p21.
Multiple alternatively spliced transcript variants encoding the same protein have been found for this gene,
however, the full length nature of some variants has not been defined. (provided by RefSeq, Jul 2008)

GeneCards Summary for MAGEB1 Gene:
MAGEB1 (melanoma antigen family B, 1) is a protein-coding gene. Diseases associated with MAGEB1 include dosage-sensitive sex reversal, and melanoma. An important paralog of this gene is MAGEC2.




(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:
NC_000023.11  NC_018934.2  NT_167197.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the MAGEB1 gene promoter:
         ARP-1   RelA   NF-kappaB1   NF-kappaB   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMAGEB1 promoter sequence
   Search Chromatin IP Primers for MAGEB1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MAGEB1


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

Entrez Gene cytogenetic band: Xp21.3   Ensembl cytogenetic band:  Xp21.2   HGNC cytogenetic band: Xp21.3

MAGEB1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MAGEB1 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP030261:  view genomic region     (about GC identifiers)

Start:
30,261,847 bp from pter      End:
30,270,155 bp from pter
Size:
8,309 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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: MAGB1_HUMAN, P43366 (See protein sequence)
Recommended Name: Melanoma-associated antigen B1  
Size: 347 amino acids; 39037 Da
Secondary accessions: B2RC79 O00601 O75862 Q6FHJ0 Q96CW8

Explore the universe of human proteins at neXtProt for MAGEB1: NX_P43366

Explore proteomics data for MAGEB1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys284
  • Modification sites at PhosphoSitePlus

  • See MAGEB1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_002354.2  NP_796379.1  NP_803134.1  

    ENSEMBL proteins: 
     ENSP00000368264   ENSP00000380683   ENSP00000380681  

    MAGEB1 Human Recombinant Protein Products:

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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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    2 InterPro protein domains:
     IPR021072 Melanoma_ass_antigen_N
     IPR002190 MAGE

    Graphical View of Domain Structure for InterPro Entry P43366

    ProtoNet protein and cluster: P43366

    1 Blocks protein domain: IPB002190 MAGE protein

    UniProtKB/Swiss-Prot: MAGB1_HUMAN, P43366
    Similarity: Contains 1 MAGE domain


    MAGEB1 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:
         Genatlas biochemistry entry for MAGEB1:
    melanoma antigen,family B,member 1,with two alternatively spliced isoforms,expressed in testis,melanoma and lung
    carcinomas

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MAGEB1
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    miRNA
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    miRTarBase miRNAs that target MAGEB1:
    hsa-mir-335-5p (MIRT018977)

    Block miRNA regulation of human, mouse, rat MAGEB1 using miScript Target Protectors
    2 qRT-PCR Assays for microRNAs that regulate MAGEB1:
    hsa-miR-873 hsa-miR-520g
    SwitchGear 3'UTR luciferase reporter plasmidMAGEB1 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MAGEB1


    (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
    cytosol1
    golgi apparatus1
    mitochondrion1

    (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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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for MAGEB1
    Interactions:

        Search GeneGlobe Interaction Network for MAGEB1

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for MAGEB1 (ENSP000003682644) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    (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 MAGEB1 (MAGB1)



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for MAGEB1 gene (3 alternative transcripts): 
    NM_002363.4  NM_177404.2  NM_177415.2  

    Unigene Cluster for MAGEB1:

    Melanoma antigen family B, 1
    Hs.73021  [show with all ESTs]
    Unigene Representative Sequence: X82539
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000378981(uc004dcc.3) ENST00000397550(uc004dcd.3) ENST00000397548(uc004dce.3)

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat MAGEB1 using miScript Target Protectors
    2 qRT-PCR Assays for microRNAs that regulate MAGEB1:
    hsa-miR-873 hsa-miR-520g
    SwitchGear 3'UTR luciferase reporter plasmidMAGEB1 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for MAGEB1
    Predesigned siRNA for gene silencing in human, mouse, rat MAGEB1
    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 3): MAGEB1 (NM_177404)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MAGEB1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MAGEB1
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for MAGEB1
    OriGene qSTAR qPCR primer pairs in human, mouse for MAGEB1
    Pre-validated RT2 qPCR Primer Assay in human, mouse / rat MAGEB1
      QuantiTect SYBR Green Assays in human, mouse, rat MAGEB1
      QuantiFast Probe-based Assays in human, mouse, rat MAGEB1

    Additional mRNA sequence: 

    AK314977.1 BC013772.1 CR541762.1 X82539.1 

    3 DOTS entries:

    DT.207292  DT.95163781  DT.100738208 

    24 AceView cDNA sequences:

    NM_002367 BU166425 BU189320 NM_177415 CR541762 NM_177404 BQ428314 BX105170 
    BC032852 BI826827 AA634391 BI831285 CR541779 BE897525 BI460724 NM_002363 
    BC013772 BF979409 X82539 AA412095 BG493595 BG719131 BF980356 BQ216792 

    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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    MAGEB1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCAAGTTTTT
    MAGEB1 Expression
    About this image

    MAGEB1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MAGEB1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.73021

    UniProtKB/Swiss-Prot: MAGB1_HUMAN, P43366
    Tissue specificity: Expressed only in testis

        Custom PCR Arrays for MAGEB1
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MAGEB1

    (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 MAGEB1 gene from Selected species (see all 4)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mageb31 melanoma antigen, family B, 3 65.33(n)
    53.67(a)
      17147  NM_008545.2  NP_032571.2 


    ENSEMBL Gene Tree for MAGEB1 (if available)
    TreeFam Gene Tree for MAGEB1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MAGEB1 gene
    MAGEC22  MAGEA9B2  MAGEB52  MAGEB162  MAGEB42  MAGEC12  MAGED42  MAGEA82  
    MAGED22  MAGEA122  MAGEA92  MAGEB172  MAGEB102  MAGEA62  MAGED12  MAGEA22  
    MAGEA32  MAGEB22  NDN2  MAGEB32  MAGED4B2  MAGEA42  MAGEA12  MAGEA102  
    MAGEB182  MAGEA2B2  MAGEB62  MAGEL22  TRO2  MAGEA112  NDNL22  MAGEF12  
    Selected SIMAP similar genes for MAGEB1 using alignment to 1 protein entry:     MAGB1_HUMAN(see all similar genes):
    MAGE-B1    MAGEB2    MAGEB4    MAGEB17    MAGEB18    MAGEH1
    MAGEB16    MAGEB3    MAGEB6    MAGEB10    MAGEC2    MAGEC4
    MAGEC1    MAGEA8    MAGEB5    MAGEA9    MAGEA9B    NDNL2

    MAGEB1 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), 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 MAGEB1 (see all 203)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1439566211,2
    C--30174554(+) GGGAGA/GCTCAG 2 -- us2k10--------
    rs25295651,2
    C,F,O,A,H--30174582(+) CATGAT/CAATTC 2 -- us2k123Minor allele frequency- C:0.21NS EA NA WA CSA 2130
    rs1389208291,2
    --30174626(+) GAACAC/GAGAAA 2 -- us2k10--------
    rs1493634861,2
    --30174671(+) CCCAGA/GCAGGG 2 -- us2k10--------
    rs1871624231,2
    --30174839(+) GAAGGG/TGTTCT 2 -- us2k10--------
    rs1995384631,2
    --30174880(+) ACATCA/CCCTGC 2 -- us2k10--------
    rs564058091,2
    C--30174904(+) CTCCTA/GCCTGC 2 -- us2k10--------
    rs1427185871,2
    F--30174979(+) CCAGCG/AGACCC 2 -- us2k11Minor allele frequency- A:0.00NA 4546
    rs1446749361,2
    C,F--30174985(+) GACCCG/ATGGTC 2 -- us2k11Minor allele frequency- A:0.00NA 4544
    rs1409587351,2
    C,F--30175004(+) GATCTC/TAAGGT 2 -- us2k11Minor allele frequency- T:0.00NA 4542

    HapMap Linkage Disequilibrium report for MAGEB1 (30261847 - 30270155 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for MAGEB1: --
    Locus Specific Mutation Databases (LSDB): MAGEB1

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MAGEB1
    DNA2.0 Custom Variant and Variant Library Synthesis for MAGEB1

    (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.)
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    OMIM gene information: 300097    OMIM disorders: --

    2 diseases for MAGEB1:    
    About MalaCards
    dosage-sensitive sex reversal    melanoma


    MAGEB1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): MAGEB1

    Export disorders for MAGEB1 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 MAGEB1 gene, integrated from 10 sources (see all 19):
    (articles sorted by number of sources associating them with MAGEB1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Isolation and characterization of a MAGE gene family in the Xp21.3 region. (PubMed id 7761436)1, 2, 3 Muscatelli F.... Monaco A.P. (Proc. Natl. Acad. Sci. U.S.A. 1995)
    2. Two members of the human MAGEB gene family located in Xp21.3 are expressed in tumors of various histological origins. (PubMed id 9441743)1, 3, 9 Lurquin C.... Boon T. (Genomics 1997)
    3. A family of rapidly evolving genes from the sex reversal critical region in Xp21. (PubMed id 8535061)1, 2, 9 Dabovic B.... Camerino G. (Mamm. Genome 1995)
    4. The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (Nature 2005)
    5. 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)
    6. The protein interaction landscape of the human CMGC kinase group. (PubMed id 23602568)1 Varjosalo M....Gstaiger M. (Cell Rep 2013)
    7. 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)
    8. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC 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: 4112 HGNC: 6808 AceView: MAGEB1 Ensembl:ENSG00000214107 euGenes: HUgn4112
    ECgene: MAGEB1 H-InvDB: MAGEB1

    (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 MAGEB1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for MAGEB1 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 MAGEB1 gene:
    Search GeneIP for patents involving MAGEB1

    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, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, 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 inGenious Targeting Laboratory, genOway)
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