Property Summary

NCBI Gene PubMed Count 40
Grant Count 8
R01 Count 4
Funding $1,688,209
PubMed Score 78.89
PubTator Score 51.24

Knowledge Summary

Patent

No data available

Expression

Synonym

Accession Q8N490 A8K1F2 Q96A48 Q9BU26 Q9NSX4 Q9ULN6 Q9Y4T1
Symbols MR1
PDC
DYT8
FPD1
MR-1
BRP17
PKND1
FKSG19
TAHCCP2
KIPP1184

Gene

PANTHER Protein Class (1)

Gene RIF (18)

PMID Text
26598494 study highlights the frequency, novel mutations and clinical and molecular spectrum of PRRT2, SLC2A1 and PNKD mutations as well as the phenotype-genotype overlap among these paroxysmal movement disorders.
25107857 This study present the pedigree is the first PNKD family from Chinese Mainland, which is also the largest PNKD family among those reported across the globe. It included 5 generations and 26 patients.
25066297 MR-1 functions as a tumor promoter in MCF7 cells by activating the MEK/ERK signaling
23696030 MR-1 overexpression was tightly associated with more aggressive tumor behavior and a poor prognosis in pancreatic ductal adenocarcinoma.
23082061 MR-1 was up-regulated in gastric cancer tissues. High expression of MR-1 in gastric cancer was significantly correlated with clinical stage. Postoperative survival of the MR-1 positive group tended to be poorer than that of the MR-1 negative group.
22967746 A Taiwanese family with paroxysmal nonkinesigenic dyskinesia has a heterozygous c.20 C>T (p.Ala7Val) mutation which was clearly segregated in the five affected patients.
22780969 MR-1S is highly expressed in ovarian cancer cells and tissues.
21962874 In this report we present two families with paroxysmal non-kinesigenic dyskinesia of Southern European origin carrying a PNKD protein recurrent mutation.
21487022 Mutations in PNKD causing paroxysmal dyskinesia alters protein cleavage and stability.
20877624 Observational study of gene-disease association. (HuGE Navigator)
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AA Sequence

MAAVVAATALKGRGARNARVLRGILAGATANKASHNRTRALQSHSSPEGKEEPEPLSPELEYIPRKRGKN      1 - 70
PMKAVGLAWYSLYTRTWLGYLFYRQQLRRARNRYPKGHSKTQPRLFNGVKVLPIPVLSDNYSYLIIDTQA     71 - 140
QLAVAVDPSDPRAVQASIEKEGVTLVAILCTHKHWDHSGGNRDLSRRHRDCRVYGSPQDGIPYLTHPLCH    141 - 210
QDVVSVGRLQIRALATPGHTQGHLVYLLDGEPYKGPSCLFSGDLLFLSGCGRTFEGNAETMLSSLDTVLG    211 - 280
LGDDTLLWPGHEYAEENLGFAGVVEPENLARERKMQWVQRQRLERKGTCPSTLGEERSYNPFLRTHCLAL    281 - 350
QEALGPGPGPTGDDDYSRAQLLEELRRLKDMHKSK                                       351 - 385
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Text Mined References (47)

PMID Year Title
26598494 2015 The clinical and genetic heterogeneity of paroxysmal dyskinesias.
25416956 2014 A proteome-scale map of the human interactome network.
25107857 2015 A case of familial paroxysmal nonkinesigenic dyskinesia due to mutation of the PNKD gene in Chinese Mainland.
25066297 2014 Phosphorylation of myofibrillogenesis regulator-1 activates the MAPK signaling pathway and induces proliferation and migration in human breast cancer MCF7 cells.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23696030 2013 Clinicopathological and prognostic significance of myofibrillogenesis regulator-1 protein expression in pancreatic ductal adenocarcinoma.
23128233 2012 Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
23082061 2012 Myofibrillogenesis regulator-1 overexpression is associated with poor prognosis of gastric cancer patients.
22967746 2012 Familial paroxysmal nonkinesigenic dyskinesia: clinical and genetic analysis of a Taiwanese family.
22780969 2012 [Expression of a novel biomarker, MR-1S, in ovarian carcinoma and its biological significance].
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