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FLASH GENE
Symbol SS18 contributors: mct/npt - updated : 11-10-2021
HGNC name synovial sarcoma translocation, chromosome 18
HGNC id 11340
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
11 - 3409 46 418 - 2008 18234968
NSYT
10 - 3309 - 387 ubiquitous 2008 18234968
  • ISYT
  • 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
  • 11 - 3413 - 395 - 2008 18234968
    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)
  • SS18 plays a role in the pluripotent to somatic interface and undergoes liquid-liquid phase separation through a unique tyrosine-based mechanism
  • 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)
  • SHCBP1 is a novel downstream target gene of SS18-SSX1, and the oncogene SS18-SSX1 promotes tumorigenesis by increasing the expression of SHCBP1, which normally acts as a tumor promoting factor
  • 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
    tumoral fusion      
    SS18-SSX2 fusion oncogene expression characterizes human synovial sarcomas
    tumoral fusion      
    SS18-NEDD4 gene fusion in primary renal synovial sarcoma
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancermuscle 
    in synovial sarcoma, HDAC2 inactivation demonstrates significant therapeutic effect by degradation of the SS18-SSX driver oncoprotein
    ANIMAL & CELL MODELS