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THAP Domain Containing, Apoptosis Associated Protein 1 (THAP1)

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DYT6; Dystonia 6,Torsion

THAP Domain Containing, Apoptosis Associated Protein 1 (THAP1)
CCC M359
HGNC 20856
MGI 1921004
PubMed 12575992
RGD 1307589
UniProt Q9NVV9
Wiki THAP1
THAP1 contains a THAP domain, a conserved DNA-binding domain. This protein colocalizes with the apoptosis response protein PAWR/PAR-4 in promyelocytic leukemia (PML) nuclear bodies, and functions as a proapoptotic factor that links PAWR to PML nuclear bodies. Alternatively spliced transcript variants encoding distinct isoforms have been observed.THAP domain is a zinc-dependent DNA-binding module. Both the isolated THAP domain and full-length THAP1 bound an 11-nucleotide consensus sequence containing a core GGCA motif that was essential for THAP binding. Alanine substitution experiments revealed that the C2CH signature (cys5, cys10, cys54, and his57) and 4 additional conserved residues (pro26, trp36, phe58, and pro78) within the THAP domain were required for DNA binding.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant THAP Domain Containing, Apoptosis Associated Protein 1 (THAP1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to THAP Domain Containing, Apoptosis Associated Protein 1 (THAP1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to THAP Domain Containing, Apoptosis Associated Protein 1 (THAP1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for THAP Domain Containing, Apoptosis Associated Protein 1 (THAP1) CLIA Kit Customized Service Offer
n/a ELISA Kit for THAP Domain Containing, Apoptosis Associated Protein 1 (THAP1) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant THAP Domain Containing, Apoptosis Associated Protein 1 (THAP1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to THAP Domain Containing, Apoptosis Associated Protein 1 (THAP1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to THAP Domain Containing, Apoptosis Associated Protein 1 (THAP1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for THAP Domain Containing, Apoptosis Associated Protein 1 (THAP1) CLIA Kit Customized Service Offer
n/a ELISA Kit for THAP Domain Containing, Apoptosis Associated Protein 1 (THAP1) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant THAP Domain Containing, Apoptosis Associated Protein 1 (THAP1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to THAP Domain Containing, Apoptosis Associated Protein 1 (THAP1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to THAP Domain Containing, Apoptosis Associated Protein 1 (THAP1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for THAP Domain Containing, Apoptosis Associated Protein 1 (THAP1) CLIA Kit Customized Service Offer
n/a ELISA Kit for THAP Domain Containing, Apoptosis Associated Protein 1 (THAP1) ELISA Kit Customized Service Offer
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  3. "DNA sequence and analysis of human chromosome 8." Nature 439:331-335(2006) [PubMed] [Europe PMC] [Abstract]
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  5. "THAP1 is a nuclear proapoptotic factor that links prostate-apoptosis-response-4 (Par-4) to PML nuclear bodies."Oncogene 22:2432-2442(2003) [PubMed] [Europe PMC] [Abstract]
  6. "The THAP domain of THAP1 is a large C2CH module with zinc-dependent sequence-specific DNA-binding activity."Proc. Natl. Acad. Sci. U.S.A. 102:6907-6912(2005) [PubMed] [Europe PMC] [Abstract]
  7. "The THAP-zinc finger protein THAP1 regulates endothelial cell proliferation through modulation of pRB/E2F cell-cycle target genes."Blood 109:584-594(2007) [PubMed] [Europe PMC] [Abstract]
  8. "The THAP-zinc finger protein THAP1 associates with coactivator HCF-1 and O-GlcNAc transferase: a link between DYT6 and DYT3 dystonias."J. Biol. Chem. 285:13364-13371(2010) [PubMed] [Europe PMC] [Abstract]
  9. "THAP proteins target specific DNA sites through bipartite recognition of adjacent major and minor grooves."Nat. Struct. Mol. Biol. 17:117-123(2010) [PubMed] [Europe PMC] [Abstract]
  10. "DYT6 dystonia: review of the literature and creation of the UMD Locus-Specific Database (LSDB) for mutations in the THAP1 gene."Hum. Mutat. 32:1213-1224(2011) [PubMed] [Europe PMC] [Abstract]
  11. "Structure-function analysis of the THAP zinc finger of THAP1, a large C2CH DNA-binding module linked to Rb/E2F pathways."J. Biol. Chem. 283:4352-4363(2008) [PubMed] [Europe PMC] [Abstract]
  12. "Structural determinants of specific DNA-recognition by the THAP zinc finger."Nucleic Acids Res. 38:3466-3476(2010) [PubMed] [Europe PMC] [Abstract]
  13. "Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study."Lancet Neurol. 8:441-446(2009) [PubMed] [Europe PMC] [Abstract]
  14. "Mutation screening of the DYT6/THAP1 gene in Italy."Mov. Disord. 24:2424-2427(2009) [PubMed] [Europe PMC] [Abstract]
  15. "Identification of a novel THAP1 mutation at R29 amino-acid residue in sporadic patients with early-onset dystonia."Mov. Disord. 24:2428-2429(2009) [PubMed] [Europe PMC] [Abstract]
  16. "Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia."Nat. Genet. 41:286-288(2009) [PubMed] [Europe PMC] [Abstract]
  17. "Adult-onset leg dystonia due to a missense mutation in THAP1."Mov. Disord. 25:1306-1307(2010) [PubMed] [Europe PMC] [Abstract]
  18. "Prevalence of THAP1 sequence variants in German patients with primary dystonia."Mov. Disord. 25:1982-1986(2010) [PubMed] [Europe PMC] [Abstract]
  19. "DYT6 dystonia: mutation screening, phenotype, and response to deep brain stimulation."Mov. Disord. 25:2420-2427(2010) [PubMed] [Europe PMC] [Abstract]
  20. "Novel THAP1 sequence variants in primary dystonia." Neurology 74:229-238(2010) [PubMed] [Europe PMC] [Abstract]
  21. "THAP1 mutations (DYT6) are an additional cause of early-onset dystonia."Neurology 74:846-850(2010) [PubMed] [Europe PMC] [Abstract]
  22. "Identification and functional analysis of novel THAP1 mutations." Eur. J. Hum. Genet. 20:171-175(2012) [PubMed] [Europe PMC] [Abstract]
  23. "Clinical and genetic evaluation of DYT1 and DYT6 primary dystonia in China."Eur. J. Neurol. 18:497-503(2011) [PubMed] [Europe PMC] [Abstract]
  24. "THAP1/DYT6 sequence variants in non-DYT1 early-onset primary dystonia in China and their effects on RNA expression."J. Neurol. 259:342-347(2012) [PubMed] [Europe PMC] [Abstract]
  25. "Novel THAP1 gene mutations in patients with primary dystonia from Southwest China."J. Neurol. Sci. 309:63-67(2011) [PubMed] [Europe PMC] [Abstract]
  26. "Homozygous THAP1 mutations as cause of early-onset generalized dystonia."Mov. Disord. 26:858-861(2011) [PubMed] [Europe PMC] [Abstract]
  27. "DYT 6--a novel THAP1 mutation with excellent effect on pallidal DBS."Mov. Disord. 26:924-925(2011) [PubMed] [Europe PMC] [Abstract]
  28. "Screening of the THAP1 gene in patients with early-onset dystonia: myoclonic jerks are part of the dystonia 6 phenotype."Neurogenetics 12:87-89(2011) [PubMed] [Europe PMC] [Abstract]
  29. "Genotype-phenotype correlations in THAP1 dystonia: Molecular foundations and description of new cases."Parkinsonism Relat. Disord. 18:414-425(2012) [PubMed] [Europe PMC] [Abstract]
  30. "High variability of clinical symptoms in a Polish family with a novel THAP1 mutation."Int. J. Neurosci. 0:0-0(2014) [PubMed] [Europe PMC] [Abstract]