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FLASH GENE
Symbol SS18 contributors: mct/npt - updated : 18-04-2008
HGNC name synovial sarcoma translocation, chromosome 18
HGNC id 11340
Corresponding disease
BSSX synovial sarcoma
Location 18q11.2      Physical location : 23.596.218 - 23.670.611
Synonym name
  • synovial sarcoma, translocated to X chromosome
  • fusion protein SYT-SSX1
  • fusion protein SYT-SSX2
  • synovial sarcoma, translocated to X chromosome
  • Synonym symbol(s) SYT, SSXT, MGC116875, SYT-SSX1, SYT-SSX2, SS18-SSX1
    DNA
    TYPE functioning gene
    STRUCTURE 74.39 kb     11 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    - - 3440 46 418 - Tamborini, Morimoto, D'Arcy (2008)
    - - 3347 - 387 ubiquitous Tamborini, Morimoto, D'Arcy (2008)
  • insertion of 93 bp, between exon 8 and 9 of the conventional SYT transcript
  • transcriptional activity of the I-SYT and I-SYT-SSX proteins were higher than those of the N-SYT and N-SYT-SSX proteins
  • EXPRESSION
    Type ubiquitous
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivemouth   highly
    Hearing/Equilibriumear   highly
    Respiratoryrespiratory tracttrachea  highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N-terminal SNH domain, potentially inhibitor
  • three potential SH2
  • one potential SH3 domains
  • an annexin-like imperfect repeat
  • a repression domain QPGY (glutamine, proline, glycine rich tyrosine) at the C terminus
  • HOMOLOGY
    interspecies ortholog to murine Ss18
    intraspecies homolog to SS18L2
    Homologene
    FAMILY
  • SS18 family
  • CATEGORY regulatory , transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,nucleoplasm,nuclear bodies,nuclear speckles
    text colocalized and binding with BRM in discrete nuclear speeckles
    basic FUNCTION
  • acting as a transcriptional co-activator
  • 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, regulation
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • colocalizing with the polycomb group (PcG) complex
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • BRM of the SWI/SNF complex
  • sarcoma specific fusion gene SS18/SSX interacting with IGF1R (seem to play important but different roles in maintaining malignant growth of synovial sarcoma cells)
  • cell & other
  • associating with chromatin
  • REGULATION
    Other regulated by the SYT/SSX gene form the normal allele
    ASSOCIATED DISORDERS
    corresponding disease(s) BSSX
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral fusion      
    fused with SSX1 or SSX2 in synovial sarcoma with translocation t(X;18)(p11.2-q11.2); see BSSX, SSX3, SSX4, SSX5
    tumoral     --over  
    of SS18-SSX1 enhanced TP53 ubiquitination and degradation in a manner dependent on the ubiquitin ligase activity of HDM2 (D'Arcy 2008)
    tumoral fusion      
    rearrangements of both USP6 and SS18, but histologic features were consistent with aneurysmal bone cyst throughout the lesion
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS