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PRP31 pre-mRNA processing factor 31 homolog

RP11, PRPF31
This gene encodes a component of the spliceosome complex and is one of several retinitis pigmentosa-causing genes. When the gene product is added to the spliceosome complex, activation occurs.[provided by RefSeq, Jan 2009] (from NCBI)
Top mentioned proteins: ADRP, HAD, CAN, POLYMERASE, AGE
Papers using RP11 antibodies
PRTFDC1, a possible tumor-suppressor gene, is frequently silenced in oral squamous-cell carcinomas by aberrant promoter hypermethylation.
Veitia Reiner Albert, In PLoS ONE, 2006
... Human bacterial artificial chromosome (BAC) clone RP11-129O7 was used to generate transgenic mice by pronuclear injection ...
Molecular refinement of gibbon genome rearrangements.
Warburton Peter E., In PLoS ONE, 2006
... Cosmids and BAC RP11-886I11 were isolated according to the manufacturer's conditions (QIAgen-tip 100; QIAgen GmbH), digested ...
Papers on RP11
Differential expression profiles of long non-coding RNAs reveal potential biomarkers for identification of human gastric cancer.
Pu et al., Nanjing, China. In Oncol Rep, Jan 2016
AP000459, LOC101928316, RP11-167N4 and LINC01071 expression was significantly lower in 30 advanced GC tumor tissues than adjacent non-tumor tissues P<0.05.
Genotype-phenotype correlation of 16p13.3 terminal duplication and 22q13.33 deletion: Natural history of a patient and review of the literature.
Gil-da-Silva-Lopes et al., Campinas, Brazil. In Am J Med Genet A, Jan 2016
ish ins(22;16)(RP11-35P16+, RP11-27M24+).
Genotype and Phenotype Studies in Autosomal Dominant Retinitis Pigmentosa (adRP) of the French Canadian Founder Population.
Koenekoop et al., Montréal, Canada. In Invest Ophthalmol Vis Sci, Jan 2016
Eleven (46%) of these mutations were in RHO, four mutations (17%) were found in SNRNP200, three mutations (12.5%) in PRPH2/RDS, three mutations (12.5%) in TOPORS, two mutations (8%) in PRPF31, and one mutation (4%) in IMPDH1.
Transcriptional regulation of PRPF31 gene expression by MSR1 repeat elements causes incomplete penetrance in retinitis pigmentosa.
Bhattacharya et al., Lausanne, Switzerland. In Sci Rep, Dec 2015
PRPF31-associated retinitis pigmentosa presents a fascinating enigma: some mutation carriers are blind, while others are asymptomatic.
Long Noncoding RNAs in Urine Are Detectable and May Enable Early Detection of Acute T Cell-Mediated Rejection of Renal Allografts.
Thum et al., Hannover, Germany. In Clin Chem, Dec 2015
Three intergenic lncRNAs, LNC-MYH13-3:1, RP11-395P13.3-001,
Altered microRNA profiles in cerebrospinal fluid exosome in Parkinson disease and Alzheimer disease.
Hu et al., Hangzhou, China. In Oncotarget, Dec 2015
Messenger RNA (mRNA) transcripts [amyloid precursor protein (APP), α-synuclein (α-syn), Tau, neurofilament light gene (NF-L), DJ-1/PARK7, Fractalkine and Neurosin] and long non-coding RNAs (RP11-462G22.1 and PCA3) were differentially expressed in CSF exosomes in PD and AD patients.
Expression profile of long non-coding RNAs in pancreatic cancer and their clinical significance as biomarkers.
Chen et al., Guangzhou, China. In Oncotarget, Dec 2015
The most increased lncRNAs in PC tissues were HOTTIP-005, XLOC_006390, and RP11-567G11.1.
An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes.
Johnson et al., London, United Kingdom. In Nat Cell Biol, Aug 2015
We identify 112 candidate ciliogenesis and ciliopathy genes, including 44 components of the ubiquitin-proteasome system, 12 G-protein-coupled receptors, and 3 pre-mRNA processing factors (PRPF6, PRPF8 and PRPF31) mutated in autosomal dominant retinitis pigmentosa.
Identification of epistatic interactions through genome-wide association studies in sporadic medullary and juvenile papillary thyroid carcinomas.
Borrego et al., Sevilla, Spain. In Bmc Med Genomics, 2014
and C8orf37-RNU1-55P) and three in juvenile PTC (RP11-648k4.2-DIO1,
Comprehensive analysis of lncRNA-mRNA co-expression patterns identifies immune-associated lncRNA biomarkers in ovarian cancer malignant progression.
Zhang et al., Harbin, China. In Sci Rep, 2014
We found that two protective lncRNAs, RP11-284N8.3.1 and AC104699.1.1,
Potential Role of lncRNAs in Contributing to Pathogenesis of Intervertebral Disc Degeneration Based on Microarray Data.
Fu et al., Shanghai, China. In Med Sci Monit, 2014
Eight lncRNAs - LINC00917, CTD-2246P4.1, CTC-523E23.5, RP4-639J15.1, RP11-363G2.4,
Mosaic tetrasomy 9p at amniocentesis: prenatal diagnosis, molecular cytogenetic characterization, and literature review.
Wang et al., Taipei, Taiwan. In Taiwan J Obstet Gynecol, 2014
probe RP11-31F19 (spectrum red) showed four red signals in 47.1% (49/104 cells) in uncultured amniocytes.
Autosomal dominant retinitis pigmentosa secondary to pre-mRNA splicing-factor gene PRPF31 (RP11): review of disease mechanism and report of a family with a novel 3-base pair insertion.
Traboulsi et al., Cleveland, United States. In Ophthalmic Genet, 2013
This paper provides an overview of the molecular genetics, pathophysiology, and mechanism for incomplete penetrance and retina-specific disease in pedigrees of families who harbor mutations in PRPF31 (RP11).
Alternative splicing and retinal degeneration.
Zack et al., Baltimore, United States. In Clin Genet, 2013
Furthermore, mutations in general pre-mRNA splicing factors, such as PRPF31, PRPF8, and PRPF3, predominantly cause autosomal dominant RP.
Mosaic trisomy 12 at amniocentesis: prenatal diagnosis and molecular genetic analysis.
Wang et al., Taipei, Taiwan. In Taiwan J Obstet Gynecol, 2013
Interphase FISH analysis on uncultured amniocytes using a 12q11-q12-specific probe of RP11-496H24 (green spectrum) showed three green signals in 17.8% (8/45 cells) of uncultured amniocytes.
A 112 kb deletion in chromosome 19q13.42 leads to retinitis pigmentosa.
Waseem et al., London, United Kingdom. In Invest Ophthalmol Vis Sci, 2011
This study describes two large deletions, one in a previously reported family and one in a new family: the latter represents the largest deletion yet described on chromosome 19 and the first report of the involvement of VSTM-1.
PRPF mutations are associated with generalized defects in spliceosome formation and pre-mRNA splicing in patients with retinitis pigmentosa.
Rivolta et al., Toronto, Canada. In Hum Mol Genet, 2011
RP-PRPF defects affect the stoichiometry of spliceosomal small nuclear RNAs. In cells with PRPF31 mutations there was no lymphoblasts with PRPF31 mutations correctly assembled tri-snRNPs, but in a less efficient manner compared with controls.
CTNNBL1 is a novel nuclear localization sequence-binding protein that recognizes RNA-splicing factors CDC5L and Prp31.
Neuberger et al., Cambridge, United Kingdom. In J Biol Chem, 2011
CTNNBL1 is a novel nuclear localization sequence-binding protein that recognizes RNA-splicing factors CDC5L and Prp31
Human PRP4 kinase is required for stable tri-snRNP association during spliceosomal B complex formation.
Lührmann et al., Göttingen, Germany. In Nat Struct Mol Biol, 2010
The authors provide evidence that PRP6 and PRP31 are directly phosphorylated by human PRP4 kinase (PRP4K) concomitant with their incorporation into B complexes.
Prevalence and novelty of PRPF31 mutations in French autosomal dominant rod-cone dystrophy patients and a review of published reports.
Zeitz et al., Paris, France. In Bmc Med Genet, 2009
extended the mutation spectrum of PRPF31 and as previously reported in other populations, it is a major cause of autosomal dominant rod-cone dystrophy in France.
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