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    XAGE1E X antigen family, member 1E [ Homo sapiens ]

    Gene ID: 653067, updated on 18-Mar-2012

    Summary

    Official Symbol
    XAGE1Eprovided by HGNC
    Official Full Name
    X antigen family, member 1Eprovided by HGNC
    Primary source
    HGNC:18372
    Locus tag
    RP13-34L8.5
    See related
    Ensembl:ENSG00000204375; MIM:300745; Vega:OTTHUMG00000021569
    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; CT12.1; GAGED2; XAGE1A; XAGE1B; XAGE1C; XAGE1D; CT12.1E
    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]

    Genomic context

    Location :
    Xp11.22
    Sequence :
    Chromosome: X; NC_000023.10 (52541053..52546197, complement)
    See XAGE1E in Epigenomics, MapViewer

    Chromosome X - NC_000023.10Genomic Context describing neighboring genes Neighboring gene X antigen family, member 1C Neighboring gene X antigen family, member 1D Neighboring gene RNA binding motif protein 22 pseudogene 11 Neighboring gene G antigen family D member 5-like

    Genomic regions, transcripts, and products

    General protein information

    Preferred Names
    G antigen family D member 2
    Names
    G antigen family D member 2
    protein XAGE-1
    cancer/testis antigen 12.1
    cancer/testis associated protein
    cancer/testis antigen family 12, member 1e

    NCBI Reference Sequences (RefSeq)

    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_001097604.2NP_001091073.2  G antigen family D member 2 isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (a, also known as XAGE-1a) encodes the longer isoform (a, also known as isoform XAGE-1b). This variant also includes a major downstream transcription start site, which results in the variant referred to as XAGE-1b in the literature. Both XAGE-1a and XAGE-1b encode the same isoform.
      Source sequence(s)
      AL772246
      Consensus CDS
      CCDS48126.2
      UniProtKB/Swiss-Prot
      Q9HD64
      Related
      ENSP00000364720, OTTHUMP00000023316, ENST00000375570, OTTHUMT00000056664
      Conserved Domains (1) summary
      pfam05831
      Location:5581
      Blast Score: 81
      GAGE; GAGE protein
    2. NM_001097605.2NP_001091074.1  G antigen family D member 2 isoform d

      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)
      AL772246
      Consensus CDS
      CCDS48128.1
      UniProtKB/Swiss-Prot
      Q9HD64
      Related
      ENSP00000364717, OTTHUMP00000042369, ENST00000375567, OTTHUMT00000056665

    RNA

    1. NR_033257.1 RNA Sequence

      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)
      AL772246

    RefSeqs of Annotated Genomes: Build 37.3

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

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000023.10 Reference GRCh37.p5 Primary Assembly

      Range
      52541053..52546197, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. NW_001841599.1 Alternate HuRef

      Range
      962..6106
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. 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.

    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AL772246.5 CAI41532.1
      CAI41533.1
      CAI41534.1
    genomic AL772246.5 CAI41532.1
      CAI41533.1
      CAI41534.1
    mRNA AF251237.1 AAG01401.1
    mRNA AJ290447.1 CAC38107.1
    mRNA AJ318878.1 CAC82986.1
    mRNA AJ318879.1 CAC82987.1
    mRNA BC009538.1 AAH09538.2
    mRNA BT007099.1 AAP35763.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9HD64.3 GenPept UniProtKB/Swiss-Prot:Q9HD64

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