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FLASH GENE
Symbol SSX1 contributors: mct/npt - updated : 14-09-2021
HGNC name synovial sarcoma, X breakpoint 1
HGNC id 11335
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    Homo sapiens
Skin/Tegumentskin    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Blood / hematopoieticbone marrow   
Connectivebone   
Epithelialsecretoryglandularendocrine 
cells
SystemCellPubmedSpeciesStageRna symbol
Reproductivespermatocyte Homo sapiens
Reproductivespermatogonia Homo sapiens
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, with SSX repression domain (SSXRD)
  • 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)
  • crucial role of SSX1 in spermatogenesis
  • 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
  • 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
    ASSOCIATED DISORDERS
    corresponding disease(s) BSSX , SPGFX5
    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)
    constitutional       loss of function
    caused severe asthenoteratozoospermia
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS