Property Summary

NCBI Gene PubMed Count 40
PubMed Score 78.89
PubTator Score 51.24

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (17)

Disease log2 FC p
posterior fossa group B ependymoma -1.800 1.8e-14
oligodendroglioma -1.100 3.5e-02
osteosarcoma -1.138 7.4e-03
group 3 medulloblastoma -2.300 2.0e-05
atypical teratoid/rhabdoid tumor -1.300 6.0e-07
medulloblastoma, large-cell -1.800 1.8e-04
primitive neuroectodermal tumor -1.300 9.1e-04
pancreatic ductal adenocarcinoma liver m... -1.449 1.1e-02
intraductal papillary-mucinous neoplasm ... 2.000 3.4e-03
active Crohn's disease -1.200 5.0e-03
pancreatic cancer 1.100 1.8e-05
breast carcinoma 1.200 2.9e-25
Pick disease -1.300 7.9e-03
Breast cancer 1.600 9.4e-08
ductal carcinoma in situ 1.300 1.6e-02
invasive ductal carcinoma 1.600 1.1e-02
ovarian cancer 1.300 4.7e-04

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)
20620873 The pnkd mutation alters such a response, suggesting that a less flexible AC region may be more effective in coupling Ca(2+) binding to channel opening.
20237496 Observational study of gene-disease association. (HuGE Navigator)
18948699 Our family was 1 of 8 families originally reported in which a mutation in the myofibrillogenesis regulator 1 (MR-1) gene caused the paroxysmal non-kinesigenic dyskinesia phenotype
18948272 Following down-regulation of MR-1, the phosphorylations of MLC2, focal adhesion kinase (FAK), and Akt were dramatically decreased
16972263 The Serbian family further demonstrates that recurrent MR-1 mutations are associated with paroxysmal nonkinesigenic dyskinesia.
16632198 autosomal dominant paroxysmal nonkinesigenic dyskinesia seems to be a homogenous disorder, for which the MR-1 gene is the major disease gene.
15824259 Different missense mutations in exon 1 of MR1 that cosegregate with PNKD were identified in each multiplex family. These single-nucleotide mutations predicted substitution of valine for alanine in residue 7 in one family and residue 9 in the other.
15188056 MR-1 is a novel myofibrillogenesis regulator in human muscle

AA Sequence

MAAVVAATALKGRGARNARVLRGILAGATANKASHNRTRALQSHSSPEGKEEPEPLSPELEYIPRKRGKN      1 - 70
PMKAVGLAWYSLYTRTWLGYLFYRQQLRRARNRYPKGHSKTQPRLFNGVKVLPIPVLSDNYSYLIIDTQA     71 - 140
QLAVAVDPSDPRAVQASIEKEGVTLVAILCTHKHWDHSGGNRDLSRRHRDCRVYGSPQDGIPYLTHPLCH    141 - 210
QDVVSVGRLQIRALATPGHTQGHLVYLLDGEPYKGPSCLFSGDLLFLSGCGRTFEGNAETMLSSLDTVLG    211 - 280
LGDDTLLWPGHEYAEENLGFAGVVEPENLARERKMQWVQRQRLERKGTCPSTLGEERSYNPFLRTHCLAL    281 - 350
QEALGPGPGPTGDDDYSRAQLLEELRRLKDMHKSK                                       351 - 385
//

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].
22214848 2012 Dopamine dysregulation in a mouse model of paroxysmal nonkinesigenic dyskinesia.
21962874 2012 Paroxysmal non-kinesigenic dyskinesia due to a PNKD recurrent mutation: report of two Southern European families.
21487022 2011 Mutations in PNKD causing paroxysmal dyskinesia alters protein cleavage and stability.
21269460 2011 Initial characterization of the human central proteome.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
20620873 2010 An epilepsy/dyskinesia-associated mutation enhances BK channel activation by potentiating Ca2+ sensing.
20237496 2010 New genetic associations detected in a host response study to hepatitis B vaccine.
19124534 2009 Paroxysmal non-kinesigenic dyskinesia is caused by mutations of the MR-1 mitochondrial targeting sequence.
18948699 2009 Paroxysmal non-kinesigenic dyskinesia caused by the mutation of MR-1 in a large Polish kindred.
18948272 2008 MR-1 modulates proliferation and migration of human hepatoma HepG2 cells through myosin light chains-2 (MLC2)/focal adhesion kinase (FAK)/Akt signaling pathway.
18691976 2008 Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
17525332 2007 ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage.
16972263 2006 Clinical characteristics of paroxysmal nonkinesigenic dyskinesia in Serbian family with Myofibrillogenesis regulator 1 gene mutation.
16717228 2006 Genetic heterogeneity in paroxysmal nonkinesigenic dyskinesia.
16632198 2006 Myofibrillogenesis regulator 1 gene (MR-1) mutation in an Omani family with paroxysmal nonkinesigenic dyskinesia.
16381901 2006 The LIFEdb database in 2006.
16189514 2005 Towards a proteome-scale map of the human protein-protein interaction network.
15824259 2005 Presence of alanine-to-valine substitutions in myofibrillogenesis regulator 1 in paroxysmal nonkinesigenic dyskinesia: confirmation in 2 kindreds.
15496728 2004 High-cell-density cultivation of Pseudomonas putida IPT 046 and medium-chain-length polyhydroxyalkanoate production from sugarcane carbohydrates.
15496428 2004 The gene for paroxysmal non-kinesigenic dyskinesia encodes an enzyme in a stress response pathway.
15489336 2004 From ORFeome to biology: a functional genomics pipeline.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15262732 2004 Myofibrillogenesis regulator 1 gene mutations cause paroxysmal dystonic choreoathetosis.
15188498 2004 Transactivating effect of hepatitis C virus core protein: a suppression subtractive hybridization study.
15188056 2004 Characterization of MR-1, a novel myofibrillogenesis regulator in human muscle.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12975309 2003 The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11256614 2000 Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing.
11076863 2000 DNA cloning using in vitro site-specific recombination.
10574461 1999 Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain.
9490305 1998 Further localization of a gene for paroxysmal dystonic choreoathetosis to a 5-cM region on chromosome 2q34.
8659518 1996 Paroxysmal dystonic choreoathetosis: tight linkage to chromosome 2q.
8659517 1996 A gene for familial paroxysmal dyskinesia (FPD1) maps to chromosome 2q.
8288249 1993 Assignment of the phosducin (PDC) gene to human chromosome 1q25-1q32.1 by somatic cell hybridization and in situ hybridization.