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FLASH GENE
Symbol SSX1 contributors: mct/npt - updated : 25-03-2009
HGNC name synovial sarcoma, X breakpoint 1
HGNC id 11335
Corresponding disease
BSSX synovial sarcoma
Location Xp11.23      Physical location : 48.114.796 - 48.126.879
Synonym name
  • sarcoma, synovial, X-chromosome-related 1
  • cancer/testis antigen family 5, member 1
  • Synonym symbol(s) MGC5162, SSRC, CT5.1, MGC150425
    DNA
    TYPE functioning gene
    STRUCTURE 12.08 kb     8 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked   status confirmed
    Map pter - DXS426 - ELK1 - ZNF81 - ZNF182 - DXS1267 - TBC1D25 - SSX1 - DXS7465E - DXS1011E - WAS - cen
    Authors Miller (95), Consensus (95)
    Text see BSSX
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    8 - 1271 21.8 188 - Fernebro (2006)
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivesalivary gland    
    Reproductivemale systemtestis  highly
    Skin/Tegumentskin    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticbone marrow   
    Connectivebone   
    Epithelialsecretoryglandularendocrine 
    cell lineage
    cell lines several types of cancers, i.e. melanoma
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a domain related to the KRAB domain of zinc finger proteins at the N terminus
  • a highly acidic C terminus
  • HOMOLOGY
    intraspecies homolog to Krüppel associated box,KRAB
    Homologene
    FAMILY
  • cancer/testis antigens family
  • SSX family
  • CATEGORY regulatory , transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,nucleoplasm,nuclear bodies,nuclear speckles
    basic FUNCTION
  • may function as transcriptional repressor, and modulator of transcription
  • SS18-SSX1 can negatively regulate TP53 tumor-suppressive function by increasing the stability of its negative regulator HDM2 (D'Arcy 2008)
  • CELLULAR PROCESS nucleotide, transcription
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • complexing with polycomb group (PcG) proteins RING1 or BMI1
  • chimeric oncoprotein SS18-SSX1 induces CDKN1A for suppression of cell growth
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
  • associating with chromatin
  • REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) BSSX
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral fusion      
    fused with SS18(SYT) in synovial sarcoma with translocation t(X;18)(p11.2;q11.2) (see BSSX)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS