Property Summary

NCBI Gene PubMed Count 68
Grant Count 26
R01 Count 16
Funding $5,098,314.16
PubMed Score 97.61
PubTator Score 125.73

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (4)

Disease log2 FC p
psoriasis -1.100 0.013
osteosarcoma -1.210 0.001
primary Sjogren syndrome 1.100 0.003
ovarian cancer -1.200 0.000

Gene RIF (59)

PMID Text
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.
More...

AA Sequence

MVQSCSAYGCKNRYDKDKPVSFHKFPLTRPSLCKEWEAAVRRKNFKPTKYSSICSEHFTPDCFKRECNNK      1 - 70
LLKENAVPTIFLCTEPHDKKEDLLEPQEQLPPPPLPPPVSQVDAAIGLLMPPLQTPVNLSVFCDHNYTVE     71 - 140
DTMHQRKRIHQLEQQVEKLRKKLKTAQQRCRRQERQLEKLKEVVHFQKEKDDVSERGYVILPNDYFEIVE    141 - 210
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.
More...