Property Summary

NCBI Gene PubMed Count 165
Grant Count 316
R01 Count 147
Funding $68,025,186.09
PubMed Score 1094.76
PubTator Score 760.02

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (5)

Disease log2 FC p
psoriasis -2.100 0.000
osteosarcoma -2.274 0.000
pancreatic ductal adenocarcinoma liver m... -1.079 0.014
lung cancer 2.000 0.002
non primary Sjogren syndrome sicca 1.100 0.021

Synonym

Accession O14656 B2RB58 Q53Y64 Q96CA0
Symbols DQ2
DYT1

Gene

PANTHER Protein Class (1)

PDB

5J1S   5J1T  

Gene RIF (144)

PMID Text
26953341 This processing occurs not only in stress-exposed cell lines but also in primary cells from distinct organisms including stimulated B cells, indicating that Torsin conversion in response to physiologically relevant stimuli is an evolutionarily conserved process.
26704435 the common rs2296793 and rs3842225 SNPs of TOR1A do not play a major role in cervical dystonia in a Chinese population.
26596547 DYT1 mutations are associated with dystonia disorders
26297380 Our patient and three other reported carriers of non-c.907_909delGAG-mutations within the first three exons of TOR1A showed similar phenotypes of adult-onset focal or segmental cervical dystonia
26281352 This review summarizes the current state of knowledge regarding the potential functions of torsin 1A in the context of hypothetical pathomechanisms responsible for torsion dystonia type 1.
26183317 The results of this study indicate that a loss of function of torsinA during cerebellar synaptogenesis induces important developmental alterations.
26008602 Plasma salusin-alpha and salusin-beta levels are increased in endometrioma patients and positively correlated with endometrioma size.
25903460 TorA(DeltaE) in Drosophila brains may activate the UPR and increase the expression of HSP22 to compensate for the toxic effects
25352667 LAP1 and LULL1 regulate Torsin ATPase activity through an active site complementation mechanism.
25337725 analysis for TOR1-A mutations should be performed only in patients with early onset, generalized, and familial dystonia.
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AA Sequence

MKLGRAVLGLLLLAPSVVQAVEPISLGLALAGVLTGYIYPRLYCLFAECCGQKRSLSREALQKDLDDNLF      1 - 70
GQHLAKKIILNAVFGFINNPKPKKPLTLSLHGWTGTGKNFVSKIIAENIYEGGLNSDYVHLFVATLHFPH     71 - 140
ASNITLYKDQLQLWIRGNVSACARSIFIFDEMDKMHAGLIDAIKPFLDYYDLVDGVSYQKAMFIFLSNAG    141 - 210
AERITDVALDFWRSGKQREDIKLKDIEHALSVSVFNNKNSGFWHSSLIDRNLIDYFVPFLPLEYKHLKMC    211 - 280
IRVEMQSRGYEIDEDIVSRVAEEMTFFPKEERVFSDKGCKTVFTKLDYYYDD                      281 - 332
//

Text Mined References (166)

PMID Year Title
26953341 2016 Site-specific Proteolysis Mobilizes TorsinA from the Membrane of the Endoplasmic Reticulum (ER) in Response to ER Stress and B Cell Stimulation.
26704435 2016 Association analysis of TOR1A polymorphisms rs2296793 and rs3842225 in a Chinese population with cervical dystonia.
26596547 Genetic mutations strengthen functional association of LAP1 with DYT1 dystonia and muscular dystrophy.
26297380 2015 Phenotype of non-c.907_909delGAG mutations in TOR1A: DYT1 dystonia revisited.
26281352 2015 [Torsin 1A and the pathomechanism of torsion dystonia type 1].
26183317 2015 Cerebellar synaptogenesis is compromised in mouse models of DYT1 dystonia.
26008602 2015 Serum salusins levels are increased and correlated positively with cyst size in ovarian endometrioma.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25903460 2015 The pathogenic human Torsin A in Drosophila activates the unfolded protein response and increases susceptibility to oxidative stress.
25416956 2014 A proteome-scale map of the human interactome network.
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