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    SSX4 synovial sarcoma, X breakpoint 4 [ Homo sapiens ]

    Gene ID: 6759, updated on 6-May-2012
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    Summary

    Official Symbol
    SSX4provided by HGNC
    Official Full Name
    synovial sarcoma, X breakpoint 4provided by HGNC
    Primary source
    HGNC:11338
    Locus tag
    RP11-344N17.14-001
    See related
    Ensembl:ENSG00000204645; HPRD:02266; MIM:300326; Vega:OTTHUMG00000022698
    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
    CT5.4; SSX4B; MGC12411; MGC119056
    Summary
    The product of this gene belongs to the family of highly homologous synovial sarcoma X (SSX) breakpoint proteins. These proteins may function as transcriptional repressors. They are also capable of eliciting spontaneously humoral and cellular immune responses in cancer patients, and are potentially useful targets in cancer vaccine-based immunotherapy. SSX1, SSX2 and SSX4 genes have been involved in the t(X;18) translocation characteristically found in all synovial sarcomas. This translocation results in the fusion of the synovial sarcoma translocation gene on chromosome 18 to one of the SSX genes on chromosome X. Chromosome Xp11 contains a segmental duplication resulting in two identical copies of synovial sarcoma, X breakpoint 4, SSX4 and SSX4B, in tail-to-tail orientation. This gene, SSX4, represents the more telomeric copy. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
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    Genomic context

    Location :
    Xp11.23
    Sequence :
    Chromosome: X; NC_000023.10 (48242968..48252785)
    See SSX4 in Epigenomics, MapViewer

    Chromosome X - NC_000023.10Genomic Context describing neighboring genes Neighboring gene ornithine aminotransferase pseudogene Neighboring gene ornithine aminotransferase pseudogene Neighboring gene synovial sarcoma, X breakpoint 4B Neighboring gene ornithine aminotransferase pseudogene

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. Identification and functional characterization of glioma-specific promoters and their application in suicide gene therapy. Yawata T, et al. J Neurooncol, 2011 Sep. PMID 21347689.
    2. An atlas of combinatorial transcriptional regulation in mouse and man. Ravasi T, et al. Cell, 2010 Mar 5. PMID 20211142.
    3. Towards a proteome-scale map of the human protein-protein interaction network. Rual JF, et al. Nature, 2005 Oct 20. PMID 16189514.
    4. CD4+ T cell responses to SSX-4 in melanoma patients. Ayyoub M, et al. J Immunol, 2005 Apr 15. PMID 15814740.
    5. The DNA sequence of the human X chromosome. Ross MT, et al. Nature, 2005 Mar 17. PMID 15772651.

    See all (16) citations in PubMed

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. we found that the SSX4 and MAGE-A3 genes are frequently expressed in brain tumor cell lines
      Title: Identification and functional characterization of glioma-specific promoters and their application in suicide gene therapy.
    2. existence of CD4+ T cells specific for multiple SSX-4 derived sequences in circulating lymphocytes from melanoma patients
      Title: CD4+ T cell responses to SSX-4 in melanoma patients.
    Submit: New GeneRIF Correction
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    Phenotypes

    Review eQTL and phenotype association data in this region using PheGenI

    Sarcoma, synovial

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    BioGRID:112637 BioGRID:109338 HIF1A    BioGRID  PubMed Two-hybrid 
    BioGRID:112637 BioGRID:113852 LZTR1    BioGRID  PubMed Two-hybrid 
    BioGRID:112637 BioGRID:111117 PAX9    BioGRID  PubMed Two-hybrid 
    BioGRID:112637 BioGRID:113331 XBP1    BioGRID  PubMed Two-hybrid 
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    General gene information

    Markers

    Genotypes

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    General protein information

    Preferred Names
    protein SSX4
    Names
    protein SSX4
    cancer/testis antigen 5.4
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    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_005636.3 → NP_005627.1  protein SSX4 isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
      Source sequence(s)
      BC005325
      Consensus CDS
      CCDS35240.1
      UniProtKB/Swiss-Prot
      O60224
      Related
      ENSP00000366083, OTTHUMP00000024292, ENST00000376886, OTTHUMT00000058902
      Conserved Domains (2) summary
      pfam09514
      Location:155 – 188
      Blast Score: 142
      SSXRD; SSXRD motif
      smart00349
      Location:23 – 82
      Blast Score: 111
      KRAB; krueppel associated box

    2. NM_175729.1 → NP_783856.1  protein SSX4 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks a segment in the coding region which leads to a frameshift, compared to variant 1. The resulting isoform (b) contains a shorter and distinct C-terminus compared to isoform a.
      Source sequence(s)
      BC005325
      Consensus CDS
      CCDS43934.1
      UniProtKB/TrEMBL
      A8MYD4
      UniProtKB/Swiss-Prot
      O60224
      Related
      ENSP00000364667, OTTHUMP00000216158, ENST00000375517, OTTHUMT00000356794
      Conserved Domains (1) summary
      smart00349
      Location:23 – 82
      Blast Score: 116
      KRAB; krueppel associated box

    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
      48242968..48252785
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. NW_001841122.1 Alternate HuRef

      Range
      2720..12536, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AL606490.15 (117620..127437) None
    mRNA AX740218.1 CAD90570.1
    mRNA BC005325.1 AAH05325.1
    mRNA BC103864.1 AAI03865.1
    mRNA BC137394.1 AAI37395.1
    mRNA BC137395.1 AAI37396.1
    mRNA U90841.1 AAC05820.1
    other-genetic EU446709.1 ABZ92238.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    O60224.1 GenPept UniProtKB/Swiss-Prot:O60224
    Q3SYD4 GenPept UniProtKB/TrEMBL:Q3SYD4
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    Additional Links

    Gene LinkOut

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

    Chemical Information
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    Research Materials
    Miscellaneous

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