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FLASH GENE
Symbol THAP1 contributors: mct - updated : 16-01-2014
HGNC name THAP domain containing, apoptosis associated protein 1
HGNC id 20856
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a THAP domain, with demonstrated sequence-specific DNA binding activity, exhibiting similarities to the site-specific DNA-binding domain of Drosophila P element transposase, including a putative metal-coordinating C2CH signature (CX(2-4)CX(35-53)CX(2)H)
  • C-terminal coiled-coil domain may enhance the affinity of the full-length protein for DNA by allowing dimerization or multimerization,
  • which may facilitate future analyses of DYT6 mutations in this region
    HOMOLOGY
    interspecies homolog to murine Thap1 (93.8pc)
    homolog to rattus Thap1 (93.3pc)
    Homologene
    FAMILY
  • THAP family
  • CATEGORY tumor suppressor , signaling
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,nucleoplasm,nuclear bodies,PML
    text colocalizes with PAWR in promyelocytic leukemia nuclear bodies
    basic FUNCTION
  • proapototic factor that links PAWR to promyelocytic leukemia (PML) nuclear bodies
  • potentiates both serum withdrawal- and TNF alpha-induced apoptosis
  • functioning as zinc-dependent sequence-specific DNA-binding factors with roles in proliferation, apoptosis, cell cycle, chromosome segregation, chromatin modification, and transcriptional regulation
  • having an important function in cell proliferation and cell cycle control
  • endogenous physiological regulator of endothelial cell proliferation and G1/S cell cycle progression
  • with others THAP proteins could play a major role in targeting genes to promote transcription regulation through interactions with protein complexes associated to chromatin remodelling
  • transcription factor that represses the expression of DYT1
  • plays a critical role in G(1)-S cell cycle control
  • may function as part of a cell surface-nucleus signaling cascade involved in terminal neural differentiation
  • CELLULAR PROCESS cell life, cell death/apoptosis
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA binding (binds DNA as a monomer with a relatively low affinity as previously observed for isolated domains such as the lac repressor)
    RNA
    small molecule
    protein
  • colocalized with PAWR in PML nuclear bodies
  • associating with HCFC1 and OGT to the RRM1 promoter during endothelial cell proliferation
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) DYT6
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS