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    GAGE1 G antigen 1 [ Homo sapiens (human) ]

    Gene ID: 2543, updated on 17-Aug-2024

    Summary

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    Official Symbol
    GAGE1provided by HGNC
    Official Full Name
    G antigen 1provided by HGNC
    Primary source
    HGNC:HGNC:4098
    See related
    Ensembl:ENSG00000205777 MIM:300594; AllianceGenome:HGNC:4098
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CT4.1; CT4.4; GAGE4; GAGE-1; GAGE-4
    Summary
    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]
    Expression
    Restricted expression toward testis (RPKM 23.5) See more
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    Genomic context

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    See GAGE1 in Genome Data Viewer
    Location:
    Xp11.23
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (49599013..49608538)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (48838585..48924369)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (49363616..49373141)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene G antigen 12H Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:49354271-49354992 Neighboring gene G antigen 2A Neighboring gene voltage dependent anion channel 1 pseudogene 2 Neighboring gene spalt like transcription factor 1 pseudogene 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Cancer-testis antigen GAGE-1 expression and serum immunoreactivity in hepatocellular carcinoma. Chao NX, et al. Niger J Clin Pract, 2018 Oct. PMID 30297572
    2. Global methylation pattern of genes in androgen-sensitive and androgen-independent prostate cancer cells. Mishra DK, et al. Mol Cancer Ther, 2010 Jan. PMID 20053773, Free PMC Article
    3. Expression of cancer-testis (CT) antigens in placenta. Jungbluth AA, et al. Cancer Immun, 2007 Aug 24. PMID 17715884, Free PMC Article
    4. Acetylation-induced transcription is required for active DNA demethylation in methylation-silenced genes. D'Alessio AC, et al. Mol Cell Biol, 2007 Nov. PMID 17709385, Free PMC Article
    5. Minimal residual disease in neuroblastoma: to GAGE or not to GAGE. Oltra S, et al. Oncol Res, 2004. PMID 15206491

    See all (23) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. High GAGE1 expression is associated with metastasis in Head and Neck Squamous Cell Carcinoma.
      Title: Expression and Prognostic Relevance of GAGE1 and XAGE1 Cancer/Testis Antigens in Head and Neck Squamous Cell Carcinoma.
    2. The circ_0016760/miR-1287/GAGE1 signaling might play vital roles in the tumorigenesis and progression of Non-small cell lung cancer (NSCLC).
      Title: Upregulated circular RNA circ_0016760 indicates unfavorable prognosis in NSCLC and promotes cell progression through miR-1287/GAGE1 axis.
    3. These data illustrate that the GAGE1 protein exhibits moderate cancerrestricted pattern of expression and immunogenicity, laying the foundation for the application of GAGE1 in immunotherapy and for the diagnosis of HCC[hepatocellular carcinoma].
      Title: Cancer-testis antigen GAGE-1 expression and serum immunoreactivity in hepatocellular carcinoma.
    4. Tumor-specific antigen GAGE may play a role in the occurrence and development of ovarian cancer and can be used as one of the important indicators for early diagnosis, efficacy evaluation and prognostic determination of ovarian cancer.
      Title: Expression of tumor-specific antigen MAGE, GAGE and BAGE in ovarian cancer tissues and cell lines.
    5. MAGE-A1 and NY-ESO-1 are associated with highly proliferating germ cells, whereas GAGE proteins have a more general function in germ cells unrelated to any specific developmental stage
      Title: MAGE-A1, GAGE and NY-ESO-1 cancer/testis antigen expression during human gonadal development.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC33825

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cellular_component ND
    No biological Data available
    more info
    		  

    General protein information

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    Preferred Names
    G antigen 1
    Names
    Cancer/testis antigen 4.4
    G antigen 4
    MZ2-F antigen
    cancer/testis antigen 4.1
    cancer/testis antigen family 4, member 1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001040663.4 → NP_001035753.1  G antigen 1

      See identical proteins and their annotated locations for NP_001035753.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) encodes the functional protein.
      Source sequence(s)
      AC231643, BC036094, BC069470
      Consensus CDS
      CCDS43950.1
      UniProtKB/Swiss-Prot
      A8MU85, P0DTW1, Q13065, Q13068, Q6NT33
      UniProtKB/TrEMBL
      B7ZVY3
      Related
      ENSP00000371119.5, ENST00000381700.11
      Conserved Domains (1) summary
      pfam05831
      Location:1 → 111
      GAGE; GAGE protein

    RNA

    1. NR_102272.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) contains an alternate exon compared to variant 2. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 2, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC231643, BC036094, DC401704
      Related
      ENST00000381709.6

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      49599013..49608538
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011543896.3 → XP_011542198.1  G antigen 1 isoform X1

      UniProtKB/Swiss-Prot
      A0A087WUD6, A6NFB1, Q4V326
      Conserved Domains (1) summary
      pfam05831
      Location:1 → 111
      GAGE; GAGE protein

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      48838585..48924369
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001468.4: Suppressed sequence

      Description
      NM_001468.4: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P0DTW1.1 GenPept UniProtKB/Swiss-Prot:P0DTW1

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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