Property Summary

NCBI Gene PubMed Count 68
PubMed Score 97.61
PubTator Score 125.73

Knowledge Summary


No data available


  Disease (6)


  Differential Expression (4)

Disease log2 FC p
psoriasis -1.100 1.3e-02
osteosarcoma -1.210 7.7e-04
primary Sjogren syndrome 1.100 3.2e-03
ovarian cancer -1.200 4.9e-04

Gene RIF (59)

26087139 The aim of this study was to assess the presence of DYT6 mutations in Polish patients with isolated dystonia. It shows known and novel substitutions.
25385508 findings strongly suggest the role of other genetic factors or environmental triggers in the pathogenesis of dystonia related to mutations in THAP1 gene.
25168324 Our results indicate that certain mutations in the THAP1 gene may lead to primary dystonia with remarkable intrafamilial clinical variability.
25088175 this study identified a feedback-loop in the regulation of THAP1 expression and demonstrated that mutant THAP1 leads to higher THAP1 expression levels.
24976531 THAP1 variants are an important cause of dystonia among individuals with an early-onset disease and a positive family history.
24862462 This study demonistrated that Combined occurrence of a novel TOR1A and a THAP1 mutation in primary dystonia.
24500857 Primary dystonia in the Amish-Mennonites is genetically diverse and includes not only the THAP1 indel founder mutation but also different mutations in THAP1 and GNAL as well as the TOR1A GAG deletion.
24227593 This study suggest that the clinical disease course in dystonia patients with mutation of THAP1 in Japanese'
24135862 deletion of SLC20A2 and THAP1 may have a role in familial basal ganglia calcification with dystonia [case report and family study]
23975424 Par-4/THAP1 complex and Notch3 competitively regulated pre-mRNA splicing of CCAR1 and affected inversely the survival of T-cell acute lymphoblastic leukemia cells.
23782819 Current known dystonia genes include those related to dopamine metabolism, transcription factor, cytoskeleton, transport of glucose and sodium ion, etc.
23180184 The genotypic spectrum of THAP1 and strengthen the association with upper body involvement, including the cranial and cervical regions that are usually spared in DYT1-primary dystonia.
23036512 Our findings indicate that THAP1 mutations are very rare in blepharospasm
22987473 in dystonia DYT1 and DYT6 gene mutation carriers, diffusion tensor imaging detected fewer fibers in the cerebello-thalamo-cortical pathways
22903657 This study supported that THAP1 mutations are an important cause of dystonia.
22844099 Evaluation of the effect of missense mutations, within the THAP domain, on the structure, stability and DNA binding.
22821615 this study demonstrated marked intrafamilial variations of dystonia in a single Japanese family with DYT6 and limited efficiency of deep brain stimulation.
22652465 Truncated THAP1 mutations (F22fs71X and F25fs53X) can alter subcellular distributions in DYT6 dystonia, while some missense mutations (C54F and L180S) cannot.
22508326 The role of THAP1 as a major genetic modifier in DYT1 dystonia and suggest the presence of other genetic or environmental factors that may influence the manifestation of DYT1 dystonia.
22377579 THAP domain of THAP1 tend to manifest at an earlier age and exhibit more extensive anatomical distributions than mutations localized to other regions of THAP1.
21847143 THAP1 mutations are rare in unselected dystonia patients and functional analysis is necessary to distinguish between benign variants and pathogenic mutations.
21839475 Mutation frequency of the THAP1 gene is 0.87% in Chinese patients with primary pure dystonia, similar to the mutation frequency found in other ethnic groups.
21800139 One silent mutation (c.267G>A) was shown to affect THAP1 expression.
21793105 the THAP1 gene to colligate all reported patients with a specific THAP1 mutation and the associated clinical signs in order to describe the broad phenotypic continuum of DYT6 dystonia ( THAP1 )
21782490 THAP1 mutations do not seem to play a major role in primary focal/segmental dystonia in this sample of southern German origin.
21752024 These observations offer additional insight into the role of the coiled-coil domain in THAP1, which may facilitate future analyses of DYT6 mutations in this region
21638323 The results of this study suggested that No evidence for THAP1/DYT6 variants as disease modifiers in DYT1 dystonia.
21601506 Genetic analysis of the entire genomic region of THAP1 revealed a novel variant that was specific for African-Americans
21538522 This study demonistrated that THAP1 mutations are infrequent in spasmodic dysphonia in Dutch patient.
21520283 this study presented that the DYT6 phenotypes in association with new THAP1 frameshift mutations.
21495072 This study demonistrated that Truncating mutations in THAP1 define the nuclear localization signal.
21425335 The data of this study suggested that homozygous THAP1 mutations cause dystonia and may be associated with a less severe dysfunction of the encoded protein compared with heterozygous disease-causing mutations.
21370264 This study indicated that the c.-237_236GA>TT THAP1 sequence variant does not increase risk for adult-onset primary dystonia in Caucasians.
21110056 found five heterozygous mutations in THAP1 in autosomal dominant primary torsion dystonia 6
20925076 Mutations in these two known primary torsion dystonia (PTD) genes, TOR1A and THAP1, are responsible for about 10% of the PTD cases in our Brazilian cohort suggesting genetic heterogeneity and supporting the role of other genes in PTD.
20865765 This study demonstrated a physical interaction between THAP1 and the TOR1A promoter that is abolished by pathophysiologic mutations.
20825472 Three subjects were found to have the GAG deletion in the TOR1A gene, and two patients were detected with THAP1 gene mutations/variations
20825472 Observational study of gene-disease association. (HuGE Navigator)
20687191 The variant of THAP1( c.71+9C>A) in intron 19 was found in 3 late onset dystonia patients (0.6%) and one control subject (0.5%).
20669277 These findings suggest that THAP1 sequence variations in primary dystonia seem to be associated with different ages of onset and distribution of symptoms
20669277 Observational study of gene-disease association. (HuGE Navigator)
20211909 These data suggest that early-onset dystonia that includes the involvement of the larynx or face is frequently associated with THAP1 mutations.
20211909 Observational study of gene-disease association. (HuGE Navigator)
20200153 THAP1 mediates the recruitment of HCF-1 to the RRM1 promoter during endothelial cell proliferation and that HCF-1 is essential for transcriptional activation of RRM1.
20144952 The THAP zinc finger uses its double-stranded beta-sheet to fill the DNA major groove and provides a unique combination of contacts from the beta-sheet, the N-terminal tail and surrounding loops toward the five invariant base pairs of the THABS sequence
20083799 A heterogeneous collection of THAP1 sequence variants is associated with varied anatomical distributions and onset ages of both familial and sporadic primary dystonia.
20083799 Observational study of gene-disease association. (HuGE Navigator)
19908325 The results of this study expand the mutational spectrum of DYT6-PTD and implicate that this genetic form of dystonia is rare in Italy.
19908320 THAP1 mutations may be present in sporadic, early-onset, cervical, and generalized dystonia.
19528516 Observational study of gene-disease association. (HuGE Navigator)
19345148 Although mutations in THAP1 might have only a minor role in patients with different, but mainly focal, forms of dystonia, they do seem to be associated with early-onset generalised dystonia with spasmodic dysphonia.
19345148 Observational study of gene-disease association. (HuGE Navigator)
19345147 Mutations in THAP1 underlie a substantial proportion of early-onset primary dystonia in non-DYT1 families.
19182804 Discovery of a mutation in the THAP1 gene in three Amish-Mennonite families with mixed-onset primary torsion dystonia (also known as DYT6 dystonia).
18073205 data represent the first structure-function analysis of a functional THAP domain, with demonstrated sequence-specific DNA binding activity
17702011 the DYT6 gene is in a 23 cM region on chromosome 8q21-22 and does not account for all familial primary torsion dystonia in Amish-Mennonites
16366514 DYT6 carriers had abnormally elevated scores in the torsion dystonia-related pattern.
15863623 the THAP domain of THAP1 is a zinc-dependent DNA-binding domain
15111678 FDG PET was used to scan [brain glucose metabolism] in 12 nonmanifesting and 11 manifesting DYT1 gene carriers, 6 nonmanifesting DYT6 gene carriers and 7 manifesting DYT6 gene carriers

AA Sequence

VPA                                                                       211 - 213

Text Mined References (71)

PMID Year Title
26087139 2015 Screening for THAP1 Mutations in Polish Patients with Dystonia Shows Known and Novel Substitutions.
25416956 2014 A proteome-scale map of the human interactome network.
25385508 2015 High variability of clinical symptoms in a Polish family with a novel THAP1 mutation.
25168324 2014 Intrafamilial variability of the primary dystonia DYT6 phenotype caused by p.Cys5Trp mutation in THAP1 gene.
25088175 2014 THAP1, the gene mutated in DYT6 dystonia, autoregulates its own expression.
24976531 2014 Novel THAP1 variants in Brazilian patients with idiopathic isolated dystonia.
24862462 2014 Combined occurrence of a novel TOR1A and a THAP1 mutation in primary dystonia.
24500857 2014 Heterogeneity in primary dystonia: lessons from THAP1, GNAL, and TOR1A in Amish-Mennonites.
24227593 2014 DYT6 in Japan-genetic screening and clinical characteristics of the patients.
24135862 2014 SLC20A2 and THAP1 deletion in familial basal ganglia calcification with dystonia.
23975424 2013 Par-4/THAP1 complex and Notch3 competitively regulated pre-mRNA splicing of CCAR1 and affected inversely the survival of T-cell acute lymphoblastic leukemia cells.
23782819 2013 [Dystonia genes and elucidation of their roles in dystonia pathogenesis].
23180184 2013 Mutation screening of the DYT6/THAP1 gene in Serbian patients with primary dystonia.
23036512 2013 THAP1 mutations in a Greek primary blepharospasm series.
22987473 2013 Early registration of diffusion tensor images for group tractography of dystonia patients.
22903657 2012 THAP1 mutations and dystonia phenotypes: genotype phenotype correlations.
22844099 2012 Towards the classification of DYT6 dystonia mutants in the DNA-binding domain of THAP1.
22821615 2012 Broad spectrum of dystonia associated with a novel thanatosis-associated protein domain-containing apoptosis-associated protein 1 mutation in a Japanese family with dystonia 6, torsion.
22652465 2012 Subcellular distribution of THAP1 and alterations in the microstructure of brain white matter in DYT6 dystonia.
22508326 2012 Lack of sequence variations in THAP1 gene and THAP1-binding sites in TOR1A promoter of DYT1 patients.
22377579 2012 Genotype-phenotype correlations in THAP1 dystonia: molecular foundations and description of new cases.
21847143 2012 Identification and functional analysis of novel THAP1 mutations.
21839475 2011 Novel THAP1 gene mutations in patients with primary dystonia from southwest China.
21800139 2012 THAP1/DYT6 sequence variants in non-DYT1 early-onset primary dystonia in China and their effects on RNA expression.
21793105 2011 DYT6 dystonia: review of the literature and creation of the UMD Locus-Specific Database (LSDB) for mutations in the THAP1 gene.
21782490 2012 Mutational screening of THAP1 in a German population with primary dystonia.
21752024 2011 Dimerization of the DYT6 dystonia protein, THAP1, requires residues within the coiled-coil domain.
21638323 2011 No evidence for THAP1/DYT6 variants as disease modifiers in DYT1 dystonia.
21601506 2011 An African-American family with dystonia.
21538522 2011 THAP1 mutations are infrequent in spasmodic dysphonia.
21520283 2011 Singular DYT6 phenotypes in association with new THAP1 frameshift mutations.
21516116 2011 Next-generation sequencing to generate interactome datasets.
21495072 2011 Truncating mutations in THAP1 define the nuclear localization signal.
21425341 2011 DYT 6--a novel THAP1 mutation with excellent effect on pallidal DBS.
21425335 2011 Homozygous THAP1 mutations as cause of early-onset generalized dystonia.
21370264 2011 The c.-237_236GA>TT THAP1 sequence variant does not increase risk for primary dystonia.
21110056 2011 Screening of the THAP1 gene in patients with early-onset dystonia: myoclonic jerks are part of the dystonia 6 phenotype.
20925076 2010 Screening of Brazilian families with primary dystonia reveals a novel THAP1 mutation and a de novo TOR1A GAG deletion.
20865765 2010 Direct interaction between causative genes of DYT1 and DYT6 primary dystonia.
20825472 2011 Clinical and genetic evaluation of DYT1 and DYT6 primary dystonia in China.
20687191 2010 DYT6 dystonia: mutation screening, phenotype, and response to deep brain stimulation.
20669277 2010 Prevalence of THAP1 sequence variants in German patients with primary dystonia.
20629133 2010 Adult-onset leg dystonia due to a missense mutation in THAP1.
20211909 2010 THAP1 mutations (DYT6) are an additional cause of early-onset dystonia.
20200153 2010 The THAP-zinc finger protein THAP1 associates with coactivator HCF-1 and O-GlcNAc transferase: a link between DYT6 and DYT3 dystonias.
20144952 2010 Structural determinants of specific DNA-recognition by the THAP zinc finger.
20083799 2010 Novel THAP1 sequence variants in primary dystonia.
20010837 2010 THAP proteins target specific DNA sites through bipartite recognition of adjacent major and minor grooves.
19908325 2009 Mutation screening of the DYT6/THAP1 gene in Italy.
19908320 2009 Identification of a novel THAP1 mutation at R29 amino-acid residue in sporadic patients with early-onset dystonia.
19528516 2009 Abnormal striatal and thalamic dopamine neurotransmission: Genotype-related features of dystonia.
19345148 2009 Mutations in THAP1 (DYT6) and generalised dystonia with prominent spasmodic dysphonia: a genetic screening study.
19345147 2009 Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study.
19182804 2009 Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia.
18073205 2008 Structure-function analysis of the THAP zinc finger of THAP1, a large C2CH DNA-binding module linked to Rb/E2F pathways.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
17702011 2007 Narrowing the DYT6 dystonia region and evidence for locus heterogeneity in the Amish-Mennonites.
17003378 2007 The THAP-zinc finger protein THAP1 regulates endothelial cell proliferation through modulation of pRB/E2F cell-cycle target genes.
16713569 2006 A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration.
16421571 2006 DNA sequence and analysis of human chromosome 8.
16366514 2005 Neuroimaging in human dystonia.
16189514 2005 Towards a proteome-scale map of the human protein-protein interaction network.
15863623 2005 The THAP domain of THAP1 is a large C2CH module with zinc-dependent sequence-specific DNA-binding activity.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15111678 2004 Regional metabolism in primary torsion dystonia: effects of penetrance and genotype.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12717420 2003 THAP1 is a nuclear proapoptotic factor that links prostate-apoptosis-response-4 (Par-4) to PML nuclear bodies.
12575992 2003 The THAP domain: a novel protein motif with similarity to the DNA-binding domain of P element transposase.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
9382482 1997 Idiopathic torsion dystonia linked to chromosome 8 in two Mennonite families.
8125298 1994 Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.