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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
Corresponding disease
DYT6 dystonia 6, idiopathic torsion
Location 8p11.21      Physical location : 42.691.817 - 42.698.474
Synonym name
  • nuclear proapoptotic factor
  • Thanathos associated protein 1
  • Synonym symbol(s) FLJ10477, MGC33014, 4833431A01Rik
    DNA
    TYPE functioning gene
    STRUCTURE 6.66 kb     3 Exon(s)
    MAPPING cloned Y linked N status provisional
    Physical map
    SFRP1 8p12-p11.2 secreted frizzled-related protein 1 GCP16 LOC392214 8 similar to Keratin, type I cytoskeletal 18 (Cytokeratin 18) (K18) (CK 18) MGC14799 8p11.21 hypothetical protein MGC14799 DKFZp586M1819 8p11.21 putative lysophosphatidic acid acyltransferase FLJ25169 8p11.21 hypothetical protein FLJ25169 ANK1 8p11.2 ankyrin 1, erythrocytic MYST3 8p11 MYST histone acetyltransferase (monocytic leukemia) 3 AP3M2 8p11.2 adaptor-related protein complex 3, mu 2 subunit PLAT 8p12-p11.2 plasminogen activator, tissue LOC389650 8 LOC389650 IKBKB 8p11.2 inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta POLB 8p11.2 polymerase (DNA directed), beta DKK4 8p11.2-p11.1 dickkopf homolog 4 (Xenopus laevis) VDAC3 8q11.2 voltage-dependent anion channel 3 SLC20A2 8p12-q21 solute carrier family 20 (phosphate transporter), member 2 LOC114926 8p11.21 hypothetical protein BC013035 CHRNB3 8p11.2 cholinergic receptor, nicotinic, beta polypeptide 3 CHRNA6 8p22 cholinergic receptor, nicotinic, alpha polypeptide 6 THAP1 8p11.1 THAP domain containing, apoptosis associated protein 1 DKFZP564A022 8p11.21 hypothetical protein DKFZp564A022 HOOK3 8p11.21 hook homolog 3 (Drosophila) FNTA 8p22-q11 farnesyltransferase, CAAX box, alpha FLJ23356 8p11.21 hypothetical protein FLJ23356 FLJ32731 8p11.1 hypothetical protein FLJ32731 LOC347028 8p11.21 similar to AFG3-like protein 2 (Paraplegin-like protein) LOC340441 8p11.21 similar to pote protein; Expressed in prostate, ovary, testis, and placenta LOC389651 8 similar to hypothetical protein (L1H 3 region) - human
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    3 - 2189 24 213 - 2003 12575992
    isoform 1
    2 - 1993 - 53 - 2006 16713569
  • a frameshift resulting in a distinct and shorter C-terminus, compared to isoform 1
  • isoform 2
  • EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivesalivary gland   highly
    Lymphoid/Immunelymph node   highly
    Nervousbrainhindbraincerebellum   Rattus norvegicusFetal
     brain     Rattus norvegicus
     gangliasensory gangliadorsal root   Rattus norvegicus
     spinal cord     Rattus norvegicus
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Cardiovascularendothelial cell
    not specificfibroblast
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    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