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FLASH GENE
Symbol UVSSA contributors: mct - updated : 01-09-2015
HGNC name UV-stimulated scaffold protein A
HGNC id 29304
Corresponding disease
UVSS3 UV-sensitive syndrome 3
Location 4p16.3      Physical location : -
Synonym name
  • KIAA1530
  • Synonym symbol(s) MGC117169, UVSS3, KIAA1530
    DNA
    TYPE functioning gene
    STRUCTURE 42.40 kb     14 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    14 - 4665 - 709 - 2013 23760561
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrineneuroendocrinepituitary   
    Lymphoid/Immunethymus    
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    Homologene
    FAMILY
    CATEGORY DNA associated
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,chromatin/chromosome
    basic FUNCTION
  • is an important player in TCR but also lead to a better understanding of the molecular mechanism underlying UV(s)S syndrome
  • forms a complex with USP7, stabilizes ERCC6 and restores the hypophosphorylated form of RNA polymerase II after UV irradiation
  • UVSSA, together with USP7, is implicated in regulating
  • Transcription-coupled nucleotide excision repair (TC-NER) activity
    CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • UVSSA is an evolutionarily conserved protein that participates in Transcription-coupled repair (TCR)through its interaction with ERCC8 and the TFIIH complex
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) UVSS3
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS