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GAGE1 Gene

protein-coding   GIFtS: 48
GCID: GC0XP049361

G Antigen 1

  See GAGE1-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
G Antigen 11 2     Member 11
Cancer/Testis Antigen 4.12 3     Cancer/Testis Antigen Family 4, Member 12
CT4.12 3     MZ2-F Antigen2
GAGE-12 3     Antigen MZ2-F3
Cancer/Testis Antigen Family 41     

External Ids:    HGNC: 40981   Entrez Gene: 25432   Ensembl: ENSG000002057777   OMIM: 3005945   UniProtKB: Q130653   

Export aliases for GAGE1 gene to outside databases

Previous GC identifers: GC0XP047961 GC0XP047425 GC0XP048004 GC0XP048215 GC0XP048271 GC0XP049057 GC0XP049061 GC0XP049049 GC0XP049070 GC0XP049242 GC0XP049250 GC0XP049359


(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 GAGE1 Gene:
This gene belongs to a family of genes that are expressed in a variety of tumors but not in normal tissues, except
for the testis. The sequences of the family members are highly related but differ by scattered nucleotide
substitutions. The antigenic peptide YRPRPRRY, which is also encoded by several other family members, is
recognized by autologous cytolytic T lymphocytes. Nothing is presently known about the function of this protein.
Alternative splicing results in multiple transcript variants. (provided by RefSeq, Jun 2010)

GeneCards Summary for GAGE1 Gene:
GAGE1 (G antigen 1) is a protein-coding gene. Diseases associated with GAGE1 include glioblastoma multiforme, and stomach cancer. An important paralog of this gene is GAGE2D.

UniProtKB/Swiss-Prot: GAGE1_HUMAN, Q13065
Function: Antigen, recognized on melanoma by autologous cytolytic T-lymphocytes. Completely silent in normal adult
tissues, except testis




(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_079573.5  
Regulatory elements:
   Search for regulatory transcription factor binding sites for GAGE1
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGAGE1 promoter sequence
   Search Chromatin IP Primers for GAGE1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GAGE1


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

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

GAGE1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GAGE1 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP049361:  view genomic region     (about GC identifiers)

Start:
49,363,616 bp from pter      End:
49,373,139 bp from pter
Size:
9,524 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., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: GAGE1_HUMAN, Q13065 (See protein sequence)
Recommended Name: G antigen 1  
Size: 139 amino acids; 15610 Da
Miscellaneous: This gene belongs to a family of genes organized in clustered repeats. They have a high degree of
predicted sequence identity, but differ by scattered single nucleotide substitution. Their sequences contain
either the antigenic peptide YYWPRPRRY or YRPRPRRY which is recognized by cytotoxic T-cells
Caution: The first GAGE nomenclature was based on identified mRNA sequences, but the high identity of the GAGE
members made impossible to separate products of paralogous genes from polymorph products. PubMed:18179644
presented a new GAGE gene nomenclature based on the identified genes and their products

Explore the universe of human proteins at neXtProt for GAGE1: NX_Q13065

Explore proteomics data for GAGE1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See GAGE1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001035753.1  
    ENSEMBL proteins: 
     ENSP00000371128   ENSP00000371119  

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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:
     IPR008625 GAGE

    Graphical View of Domain Structure for InterPro Entry Q13065

    ProtoNet protein and cluster: Q13065

    1 Blocks protein domain: IPB008625 GAGE

    UniProtKB/Swiss-Prot: GAGE1_HUMAN, Q13065
    Similarity: Belongs to the GAGE family


    Find genes that share domains with GAGE1           About GenesLikeMe


    (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, 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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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: GAGE1_HUMAN, Q13065
    Function: Antigen, recognized on melanoma by autologous cytolytic T-lymphocytes. Completely silent in normal adult
    tissues, except testis

    Animal Models:

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    miRTarBase miRNAs that target GAGE1:
    hsa-mir-335-5p (MIRT018221)

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    3 qRT-PCR Assays for microRNAs that regulate GAGE1:
    hsa-miR-1287 hsa-miR-922 hsa-miR-548n
    SwitchGear 3'UTR luciferase reporter plasmidGAGE1 3' UTR sequence
    Inhib. RNA
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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
    cytosol1
    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 GAGE1
    Interactions:

        Search GeneGlobe Interaction Network for GAGE1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006968cellular defense response TAS7544395

    Find genes that share ontologies with GAGE1           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 GAGE1



    (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 GAGE1 gene (2 alternative transcripts): 
    NM_001040663.2  NM_001468.4  

    Unigene Cluster for GAGE1:

    G antigen 1
    Hs.278606  [show with all ESTs]
    Unigene Representative Sequence: NR_102272
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000381709(uc004doj.3 uc004dok.2 uc004dol.2) ENST00000381700

    miRNA
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    3 qRT-PCR Assays for microRNAs that regulate GAGE1:
    hsa-miR-1287 hsa-miR-922 hsa-miR-548n
    SwitchGear 3'UTR luciferase reporter plasmidGAGE1 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for GAGE1
    Predesigned siRNA for gene silencing in human, mouse, rat GAGE1
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GAGE1
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for GAGE1
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      QuantiTect SYBR Green Assays in human, mouse, rat GAGE1
      QuantiFast Probe-based Assays in human, mouse, rat GAGE1

    Additional mRNA sequence: 

    BC005363.1 BC036094.1 BC069470.1 NR_102272.1 

    3 DOTS entries:

    DT.444944  DT.75114676  DT.99995700 

    Selected AceView cDNA sequences (see all 50):

    BC024914 BM832793 BX111134 NM_001474 BI826605 BI868671 AF055474 BG773070 
    BM836021 NM_001476 NM_001477 BC036094 U19145 BC031628 U19147 CF780547 
    BI560935 BC069397 BC018052 NM_001475 BX108227 BM836228 BC069558 BC069309 

    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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    GAGE1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACATTCTTGT
    GAGE1 Expression
    About this image


    GAGE1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             XY Germ Cells Testis Cord
             Testis Interstitium
     
     Gonad
             XY Germ Cells Testis Cord
    GAGE1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GAGE1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.278606

    UniProtKB/Swiss-Prot: GAGE1_HUMAN, Q13065
    Tissue specificity: Expressed in a variety of tumor tissues but not in normal tissues, except testis

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GAGE1

    (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 chimp.

    Orthologs for GAGE1 gene from 1 species (see representative species )    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chimpanzee
    (Pan troglodytes)
    Mammalia --
    Uncharacterized protein
    94(a)
    1 → many
    X(49670012-49677342)


    ENSEMBL Gene Tree for GAGE1 (if available)
    TreeFam Gene Tree for GAGE1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for GAGE1 gene
    GAGE12I1 2  GAGE12G1 2  GAGE12D1 2  GAGE12C1 2  GAGE12E1 2  GAGE12J1 2  GAGE12H1 2  GAGE2C1 2  
    GAGE2E1 2  GAGE2A1 2  GAGE2D2  XAGE32  GAGE102  XAGE52  XAGE2B2  GAGE12F2  
    GAGE132  PAGE12  XAGE22  GAGE2B2  
    Selected SIMAP similar genes for GAGE1 using alignment to 2 protein entries:     GAGE1_HUMAN (see all proteins) (see all similar genes):
    GAGE3    GAGE4    GAGE5    GAGE6    GAGE12F    GAGE12G
    GAGE12I    GAGE12J    GAGE7    GAGE2D    GAGE2E    GAGE8
    GAGE12B    GAGE12C    GAGE12D    GAGE12E    GAGE12H    GAGE13

    Find genes that share paralogs with GAGE1           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 GAGE1 (see all 244)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs758189121,2
    F--49362408(+) GCCCCT/CGGCGG 2 -- int12Minor allele frequency- C:0.37NA 8
    rs748308981,2
    F--49362495(+) GAGTGC/TGGAGC 2 -- int12Minor allele frequency- T:0.50NA 8
    rs1474343651,2
    C--49362642(+) GCCCAA/CAGCAG 2 -- int10--------
    rs1397199471,2
    C--49362759(+) ACGTAG/TTCCCA 2 -- int10--------
    rs1430242141,2
    C--49363058(+) TTATCC/GATGGA 2 -- int10--------
    rs1383393671,2
    C--49363583(+) AGTTAG/TGACCA 2 -- int10--------
    rs2015894341,2
    C--49366182(+) ATGCAC/GTGTTA 2 -- int10--------
    rs1999329301,2
    C--49366433(+) TAAGA-/TTTTCC 2 -- int10--------
    rs1420165281,2
    C--49366459(+) ATCCAA/GCTAAT 2 -- int10--------
    rs1485472661,2
    C--49366745(+) CTCATC/TGCTAA 2 -- int10--------

    HapMap Linkage Disequilibrium report for GAGE1 (49363616 - 49373139 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for GAGE1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv820429CNV Deletion20802225
    nsv6899CNV Insertion18451855
    nsv6900CNV Loss18451855
    esv28941CNV Gain+Loss19812545
    nsv515203CNV Complex21397061

    Site Specific Mutation Identification with PCR Assays
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    (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: 300594    OMIM disorders: --

    2 diseases for GAGE1:    
    About MalaCards
    glioblastoma multiforme    stomach cancer

    1 disease from the University of Copenhagen DISEASES database for GAGE1:
    Adult glioblastoma multiforme

    Find genes that share disorders with GAGE1           About GenesLikeMe


    Export disorders for GAGE1 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 GAGE1 gene, integrated from 10 sources (see all 19):
    (articles sorted by number of sources associating them with GAGE1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A new family of genes coding for an antigen recognized by autologous cytolytic T lymphocytes on a human melanoma. (PubMed id 7544395)1, 2, 3 van den Eynde B....Boon T. (J. Exp. Med. 1995)
    2. Characterization of the GAGE genes that are expressed in various human cancers and in normal testis. (PubMed id 10397259)1, 2, 9 De Backer O.... van der Bruggen P. (Cancer Res. 1999)
    3. An overview of the GAGE cancer/testis antigen family with the inclusion of newly identified members. (PubMed id 18179644)1, 2 Gjerstorff M.F. and Ditzel H.J. (Tissue Antigens 2008)
    4. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (J. Biol. Chem. 2011)
    5. Expression of tumor-specific antigen MAGE, GAGE and BAGE in ovarian cancer tissues and cell lines. (PubMed id 20423514)1 Zhang S....Yu Y. (BMC Cancer 2010)
    6. Global methylation pattern of genes in androgen-sensitive and androgen-independent prostate cancer cells. (PubMed id 20053773)1 Mishra D.K....Vadgama J.V. (Mol. Cancer Ther. 2010)
    7. Acetylation-induced transcription is required for active DNA demethylation in methylation-silenced genes. (PubMed id 17709385)1 D'Alessio A.C....Szyf M. (Mol. Cell. Biol. 2007)
    8. MAGE-A1, GAGE and NY-ESO-1 cancer/testis antigen expression during human gonadal development. (PubMed id 17208940)1 Gjerstorff M.F....Ditzel H.J. (Hum. Reprod. 2007)
    9. Expression of cancer-testis (CT) antigens in placenta. (PubMed id 17715884)1 Jungbluth A.A....Vogel M. (Cancer Immun. 2007)
    10. Expression of cancer-testis antigens as possible targets for antigen-specific immunotherapy in head and neck squamous cell carcinoma. (PubMed id 16929165)1 Atanackovic D....Leuwer R. (amp 2006)

    (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: 2543 HGNC: 4098 AceView: GAGE1 Ensembl:ENSG00000205777 euGenes: HUgn2543
    ECgene: GAGE1 H-InvDB: GAGE1

    (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 GAGE1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for GAGE1 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 GAGE1 gene:
    Search GeneIP for patents involving GAGE1

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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, eBioscience, 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 inGenious Targeting Laboratory, genOway)
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