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    XAGE1B X antigen family member 1B [ Homo sapiens (human) ]

    Gene ID: 653067, updated on 10-Dec-2024

    Summary

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    Official Symbol
    XAGE1Bprovided by HGNC
    Official Full Name
    X antigen family member 1Bprovided by HGNC
    Primary source
    HGNC:HGNC:25400
    See related
    Ensembl:ENSG00000204382 MIM:300289
    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
    CTP9; XAGE1; CT12.1; GAGED2; XAGE-1; XAGE1C; XAGE1D; XAGE1E; CT12.1C; CT12.1D; CT12.1E; CT12.1b
    Summary
    This gene is a member of the XAGE subfamily, which belongs to the GAGE family. The GAGE genes are expressed in a variety of tumors and in some fetal and reproductive tissues. This gene is strongly expressed in Ewing's sarcoma, alveolar rhabdomyosarcoma and normal testis. The protein encoded by this gene contains a nuclear localization signal and shares a sequence similarity with other GAGE/PAGE proteins. Because of the expression pattern and the sequence similarity, this protein also belongs to a family of CT (cancer-testis) antigens. Alternative splicing of this gene, in addition to alternative transcription start sites, results in multiple transcript variants. [provided by RefSeq, Jan 2010]
    Annotation information
    Note: There are two XAGE1 loci on the X chromosome. This location, previously annotated as XAGE1E, is now annotated as XAGE1B. [01 Dec 2017]
    Expression
    Restricted expression toward testis (RPKM 23.6) See more
    Orthologs
    all
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    Genomic context

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    See XAGE1B in Genome Data Viewer
    Location:
    Xp11.22
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (52512077..52517068, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (51783841..51788832, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (52541053..52546044, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene X antigen family member 1A Neighboring gene RNA binding motif protein 22 pseudogene 7 Neighboring gene RNA binding motif protein 22 pseudogene 11 Neighboring gene X antigen family member 5-like

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Prolongation of overall survival in advanced lung adenocarcinoma patients with the XAGE1 (GAGED2a) antibody. Ohue Y, et al. Clin Cancer Res, 2014 Oct 1. PMID 25124687
    2. [Association of XAGE-1 gene expression with clinical characteristics of lung cancer]. Lai Q, et al. Zhongguo Fei Ai Za Zhi, 2010 Aug. PMID 20704819, Free PMC Article
    3. XAGE-1 expression in non-small cell lung cancer and antibody response in patients. Nakagawa K, et al. Clin Cancer Res, 2005 Aug 1. PMID 16061866
    4. Characterization of preexisting humoral immunity specific for two cancer-testis antigens overexpressed at the mRNA level in non-small cell lung cancer. Watanabe Y, et al. Cancer Immun, 2006 Feb 10. PMID 16468707
    5. Epigenetic regulation of X-linked cancer/germline antigen genes by DNMT1 and DNMT3b. James SR, et al. Oncogene, 2006 Nov 2. PMID 16715135

    See all (37) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. In 22 melanoma patients with stage III lymph node metastasis, overall survival was significantly higher in the XAGE-1b and NY-ESO-1 double-negative group than in the other groups.
      Title: Lack of XAGE-1b and NY-ESO-1 in metastatic lymph nodes may predict the potential survival of stage III melanoma patients.
    2. We investigated tumor-infiltrating CD4 and CD8 T cells and the expression of PD-L1, Galectin-9, and XAGE1 in stage I to IIIA lung adenocarcinomas using a tissue microarray to deduce their contribution to overall survival, and our data showed that PD-L1 expression was a positive indicator, whereas Galectin-9 and XAGE1 expression was negative.
      Title: Survival of Lung Adenocarcinoma Patients Predicted from Expression of PD-L1, Galectin-9, and XAGE1 (GAGED2a) on Tumor Cells and Tumor-Infiltrating T Cells.
    3. The findings suggest that production of the XAGE1 (GAGED2a) antibody predicts good prognosis for patients with lung adenocarcinoma as an immune biomarker
      Title: Prolongation of overall survival in advanced lung adenocarcinoma patients with the XAGE1 (GAGED2a) antibody.
    4. Activation of human cancer/testis antigen gene, XAGE-1, in tumor cells is correlated with CpG island hypomethylation.
      Title: Activation of human cancer/testis antigen gene, XAGE-1, in tumor cells is correlated with CpG island hypomethylation.
    5. XAGE-1 gene is highly expressed in lung adenocarcinoma.
      Title: [Association of XAGE-1 gene expression with clinical characteristics of lung cancer].
    6. XAGE-1b gene is highly expressed in lung adenocarcinoma.
      Title: [Association of XAGE-1b gene expression with clinical characteristics of non-small cell lung cancer].
    7. transcription of the XAGE-1 gene is initiated from two distinct start sites, resulting in two overlapping transcripts, XAGE-1a and XAGE-1b; XAGE-1 is expressed in a diverse range of cancers
      Title: Characterization of overlapping XAGE-1 transcripts encoding a cancer testis antigen expressed in lung, breast, and other types of cancers.
    8. XAGE-1b is a promising target molecule for a cancer vaccine against lung cancer.
      Title: Identification of XAGE-1 isoforms: predominant expression of XAGE-1b in testis and tumors.
    9. XAGE-1b is highly and strongly expressed in lung adenocarcinoma and immunogenic in patients
      Title: XAGE-1 expression in non-small cell lung cancer and antibody response in patients.
    10. XAGE-1 expression in normal and cancerous tissues is regulated by methylation of the CpG island in the gene promoter
      Title: Activation of human cancer/testis antigen gene, XAGE-1, in tumor cells is correlated with CpG island hypomethylation.
    Submit: New GeneRIF Correction See all GeneRIFs (11)

    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Clone Names

    • MGC193193

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    X antigen family member 1
    Names
    G antigen family D member 2
    X antigen family member 1E
    X antigen family, member 1C
    X antigen family, member 1D
    cancer/testis antigen 12.1
    cancer/testis antigen family 12, member 1b
    cancer/testis antigen family 12, member 1c
    cancer/testis antigen family 12, member 1d
    cancer/testis antigen family 12, member 1e
    cancer/testis associated protein
    protein XAGE-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.

    Genomic

    1. NG_029951.2 RefSeqGene

      Range
      5126..10112
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001097604.3 → NP_001091073.2  X antigen family member 1 isoform a

      See identical proteins and their annotated locations for NP_001091073.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (a, also known as XAGE-1b) encodes the longer isoform (a, also known as isoform XAGE-1b).
      Source sequence(s)
      BX510359
      Consensus CDS
      CCDS48126.2
      UniProtKB/Swiss-Prot
      A6NJ94, Q5JPN8, Q5JPP0, Q5JPP3, Q8WWG5, Q8WWG6, Q969J6, Q9HD64
      Related
      ENSP00000364766.1, ENST00000375616.6
      Conserved Domains (1) summary
      pfam05831
      Location:55 → 75
      GAGE; GAGE protein

    2. NM_001097605.2 → NP_001091074.1  X antigen family member 1 isoform d

      See identical proteins and their annotated locations for NP_001091074.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (d, also known as XAGE-1d) starts at a downstream transcription start site, and uses an alternate splice site in an internal exon that causes a frameshift in the 3' coding region, compared to variant a. The encoded isoform (d) has a distinct and shorter C-terminus, compared to isoform a.
      Source sequence(s)
      BX510359
      Consensus CDS
      CCDS48128.1
      UniProtKB/Swiss-Prot
      Q9HD64
      Related
      ENSP00000364763.3, ENST00000375613.7

    RNA

    1. NR_033257.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (c, also known as XAGE-1c) differs in the 5'-most exon, compared to variant a. This variant is represented as non-coding due to the presence of two upstream ORFs that inhibit translation of the primary ORF, as indicated by experimental evidence in PMID:17335148.
      Source sequence(s)
      BX510359
      Related
      ENST00000375612.8

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    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
      52512077..52517068 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017029746.2 → XP_016885235.1  X antigen family member 1 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      51783841..51788832 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054327618.1 → XP_054183593.1  X antigen family member 1 isoform X2

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001097597.2: Suppressed sequence

      Description
      NM_001097597.2: This RefSeq was permanently suppressed because it is a redundant RefSeq for this XAGE1 family member.

    2. NM_001097598.2: Suppressed sequence

      Description
      NM_001097598.2: This RefSeq was permanently suppressed because it is a redundant RefSeq for this XAGE1 family member.

    3. NM_001097602.1: Suppressed sequence

      Description
      NM_001097602.1: This RefSeq was permanently suppressed because currently there is support for the transcript but not for the protein.

    4. NM_001097603.1: Suppressed sequence

      Description
      NM_001097603.1: This RefSeq was permanently suppressed because currently there is support for the transcript but not for the protein.

    5. NM_020411.2: Suppressed sequence

      Description
      NM_020411.2: This RefSeq was permanently suppressed because it is a redundant RefSeq for this XAGE1 family member.

    6. NM_133430.2: Suppressed sequence

      Description
      NM_133430.2: This RefSeq was permanently suppressed because it is a redundant RefSeq for this XAGE1 family member.

    7. NM_133431.3: Suppressed sequence

      Description
      NM_133431.3: This RefSeq was permanently suppressed because currently there is support for the transcript but not for the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9HD64.3 GenPept UniProtKB/Swiss-Prot:Q9HD64

    Gene LinkOut

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

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