Property Summary

NCBI Gene PubMed Count 75
PubMed Score 299.42
PubTator Score 161.50

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (8)

Disease log2 FC p
malignant mesothelioma -1.500 1.4e-04
astrocytic glioma 1.200 8.1e-03
ependymoma 1.100 1.7e-02
oligodendroglioma 1.200 1.5e-02
osteosarcoma 1.281 1.0e-03
colon cancer -1.600 2.0e-02
lung cancer 1.900 9.5e-05
ovarian cancer -1.100 2.9e-05

Gene RIF (50)

PMID Text
26628368 we found a polyadenylation-dependent 3' end maturation pathway for the human telomerase RNA that relies on the nuclear poly(A)-binding protein PABPN1 and the poly(A)-specific RNase PARN.
26527730 Many ribozymes were assayed and validated, including four ribozymes targeting the transcript of a disease-causing gene (a mutant version of PABPN1).
26484760 This function is mediated by the concerted actions of the nuclear poly(A) binding protein PABPN1, poly(A) polymerase (PAP), and the nuclear exosome complex, a pathway we have named PABPN1 and PAP-mediated RNA decay (PPD)
26420486 this study provided a systematic phosphorylation analysis of the Fanconi anemia protein PALB2, and have revealed important roles of PALB2 Ser-157 and Ser-376 in driving cellular responses to genotoxic stress.
26267866 Studied if the stability of the RNP domain of PABPN1 or domain swapping within the RNP domain may add to fibril formation.
26130692 These findings demonstrate a role for PABPN1 in rescuing several cytopathological features of TDP-43 proteinopathy by increasing the turnover of pathologic proteins.
25963658 Data indicate that intron 6 of the poly(A)-binding protein nuclear 1 (PABPN1) gene is required for autoregulation.
25906188 PABPN1 inhibits expression of transcripts with pAs near the transcription start site (TSS), a property possibly related to its role in RNA degradation
25896913 The ability of PABPN1 to promote splicing requires its RNA binding and, to a lesser extent, poly(A)polymerase (PAP) - stimulatory functions.
25816335 the first step of the cleavage and polyadenylation reaction, mRNA cleavage, is affected in muscles expressing alanine-expanded PABPN1. We propose that impaired cleavage is an early defect in Oculopharyngeal muscular dystrophy.
24975429 Loss of PABPN1, a suppressor of APA, might promote tumor aggressiveness by releasing the cancer cells from microRNA-mediated gene regulation.
24486325 We show that ARIH2 E3-ligase regulates PABPN1 protein accumulation and aggregation
23793615 These results suggest that PABPN1 levels regulate muscle cell aging and oculopharyngeal muscular dystrophy represents an accelerated muscle aging disorder.
23300856 although function of PABPN1 may be compensated by nuclear translocation of PABP4 and perhaps by increase the cytoplasmic abundance of PABP5, these were not sufficient to prevent apoptosis of cells. PABPN1 may have an anti apoptotic role in mammalian cells
23166521 we show that PABPN1 promotes lncRNA turnover via a polyadenylation-dependent mechanism
23125841 Tandem affinity purification and mass spectrometry analysis identify poly(A) binding protein nuclear 1 (PABPN1), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells
22570486 Fibrillar PABPN1 has a structure that differs from native PABPN1 and circumstantial evidence is presented that the C-terminal domain is involved in fibril formation.
22519734 PABPN1 with a 17 alanine expansion generates stress that initiates apoptosis through a p53-dependent mechanism.
22502866 Results elucidate a novel function for PABPN1 as a suppressor of alternative cleavage and polyadenylation.
22249111 Time-lapse experiments in cultured myoblasts confirm nuclear speckles as biogenesis sites of PABPN1 inclusions in oculopharyngeal muscular dystrophy.
22231868 Concerning the frequency of the expanded (GCN)11 polymorphism in PABPN1, all 34 patients have the normal allele, correlating genotypic and phenotypic features.
21956377 Taken together, the present data suggest that heterozygote OPMD patients may show some cognitive impairments and psychological disorders
21854744 In myotubes, the ratio of soluble/insoluble expPABPN1 is significantly lower compared with that of the WT protein.
21808065 Transportin binding might delay methylation of PABPN1 until after nuclear import.
21647273 A GCG expansion (GCG)11 in polyadenylate-binding protein nuclear 1 gene caused oculopharyngeal muscular dystrophy in a Chinese family.
21545772 no correlation was found between muscle weakness, the frequency of repeats in the polyadenine binding protein nuclear , and the frequency and size of nuclear inclusions
19773279 Observational study of gene-disease association. (HuGE Navigator)
19641605 results suggest that the pathological mutation in the PABPN1 gene alters the protein conformation and induces a preferential interaction with type I PRMTs and Hsp70 chaperones
19101703 in contrast to a single GCG expansion in most of oculopharyngeal muscular dystrophy (OPMD) patients in the literature, an insertion of (GCG)4GCA in the PABPN1 gene was found in the Taiwanese OPMD subjects
18577936 PABPN1 protein is associated with oculopharyngeal muscular dystrophy.
18577654 results suggest that OPMD in the Mexican population is mostly due to (GCG)(11) or (GCG)(9) PABPN1 expanded alleles arising from two independent founder effect mutations.
18495660 C-terminal domain containing the methylated arginine residues is known to promote PAPBN1 self-association, and arginine methylation has been reported to inhibit self-association of an orthologous protein
18397876 PABPN1 transgenic nematodes show muscle cell degeneration and abnormal motility.
18343218 Expression of additional HSPs including HSP27, HSP40, and HSP105 were induced in mutant PABPN1 expressing cells following exposure to the chemicals mentioned above.
18274805 We report a unique PABPN1 gene mutation in a large Bulgarian family with OPMD.
18178579 Wild-type PABPN1 over-expression can reduce mutant PABPN1 toxicity in both cell and mouse models of Oculopharyngeal muscular dystrophy.
18175083 An Italy case of oculopharyngeal muscular dystrophy in PABNPN1 mutation.
17418585 This is the first report directly indicating that nuclear aggregation in OPMD may reflect an active process by which cells sequester and inactivate the soluble toxic form of expPABPN1.
17229142 the N-terminal domain of PABPN1 has a role in oculopharyngeal muscular dystrophy
17005403 Mutation of the PABPN1 in oculopharyngeal muscular dystrophy (OPMD) provokes premature senescence in dividing myoblasts, that may be due to intranuclear toxic aggregates.
16860991 Overexpression of either the wild type or mutant PABPN1 slowed down cell proliferation. The slowing down of proliferation together with the occasional occurrence of apoptosis could contribute in vivo to the late onset of this disease.
16378590 PABPN1 has a role in myogenesis
16239242 Recruitment of HSP70 and HSC70 into the cell nucleus reduced mutant PABPN1 aggregation in a HeLa cell culture model.
16101680 Cytoplasmic targeting of mutant PABPN1 suppresses protein aggregation and toxicity in oculopharyngeal muscular dystrophy.
15755680 Expanded PABPN1, presumably via the toxic effects of its polyalanine tract, leads to inclusion formation and neurodegeneration in both the transgenic mouse and the human.
15725589 a 64 year old Chinese-Malaysian woman who presented with progressive dysphagia and bilateral ptosis for about 6 years. and showed repeat expansion in one allele to (GCG)9 while normal in the other (GCG)6.
15694141 All families carrying the mutation (GCG)(11)(GCA)(3)(GCG) shared a common ancestral haplotype and the age of the mutation was estimated in 37-53 generations by a composite likelihood method.
12945950 In COS-7 cells, predominantly nuclear protein hnRNP A1 and A/B co-localize with mPABPN1 in insoluble intranuclear aggregates.
11689481 The autosomal dominant form of this disease is caused by short expansions of a (GCG)(6) repeat to (GCG)(8-13) in the PABPN1 gene.
11222452 Observational study of gene-disease association. (HuGE Navigator)

AA Sequence

MAAAAAAAAAAGAAGGRGSGPGRRRHLVPGAGGEAGEGAPGGAGDYGNGLESEELEPEELLLEPEPEPEP      1 - 70
EEEPPRPRAPPGAPGPGPGSGAPGSQEEEEEPGLVEGDPGDGAIEDPELEAIKARVREMEEEAEKLKELQ     71 - 140
NEVEKQMNMSPPPGNAGPVIMSIEEKMEADARSIYVGNVDYGATAEELEAHFHGCGSVNRVTILCDKFSG    141 - 210
HPKGFAYIEFSDKESVRTSLALDESLFRGRQIKVIPKRTNRPGISTTDRGFPRARYRARTTNYNSSRSRF    211 - 280
YSGFNSRPRGRVYRGRARATSWYSPY                                                281 - 306
//

Text Mined References (88)

PMID Year Title
27209344 2016 Nuclear inclusions mimicking poly(A)-binding protein nuclear 1 inclusions in a case of inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia with a novel mutation in the valosin-containing protein gene.
26628368 2015 A Polyadenylation-Dependent 3' End Maturation Pathway Is Required for the Synthesis of the Human Telomerase RNA.
26527730 2016 Automated design of hammerhead ribozymes and validation by targeting the PABPN1 gene transcript.
26484760 2015 Canonical Poly(A) Polymerase Activity Promotes the Decay of a Wide Variety of Mammalian Nuclear RNAs.
26420486 2015 ATM-dependent Phosphorylation of the Fanconi Anemia Protein PALB2 Promotes the DNA Damage Response.
26267866 2015 Conformational stability of the RNP domain controls fibril formation of PABPN1.
26130692 2015 PABPN1 suppresses TDP-43 toxicity in ALS disease models.
25963658 2015 Regulated Intron Retention and Nuclear Pre-mRNA Decay Contribute to PABPN1 Autoregulation.
25906188 2015 Systematic profiling of poly(A)+ transcripts modulated by core 3' end processing and splicing factors reveals regulatory rules of alternative cleavage and polyadenylation.
25896913 2015 Poly(A) Polymerase and the Nuclear Poly(A) Binding Protein, PABPN1, Coordinate the Splicing and Degradation of a Subset of Human Pre-mRNAs.
25816335 2015 Mitochondrial dysfunction reveals the role of mRNA poly(A) tail regulation in oculopharyngeal muscular dystrophy pathogenesis.
24975429 2014 Alternative polyadenylation is associated with lower expression of PABPN1 and poor prognosis in non-small cell lung cancer.
24486325 2014 A novel feed-forward loop between ARIH2 E3-ligase and PABPN1 regulates aging-associated muscle degeneration.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24129315 2014 Immunoaffinity enrichment and mass spectrometry analysis of protein methylation.
23793615 2013 A decline in PABPN1 induces progressive muscle weakness in oculopharyngeal muscle dystrophy and in muscle aging.
23300856 2012 Depletion of nuclear poly(A) binding protein PABPN1 produces a compensatory response by cytoplasmic PABP4 and PABP5 in cultured human cells.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
23166521 2012 Polyadenylation-dependent control of long noncoding RNA expression by the poly(A)-binding protein nuclear 1.
22814378 2012 N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.
22681889 2012 The mRNA-bound proteome and its global occupancy profile on protein-coding transcripts.
22658674 2012 Insights into RNA biology from an atlas of mammalian mRNA-binding proteins.
22570486 2012 Polyalanine-independent conformational conversion of nuclear poly(A)-binding protein 1 (PABPN1).
22519734 2012 Expression of the polyalanine expansion mutant of nuclear poly(A)-binding protein induces apoptosis via the p53 pathway.
22502866 2012 The poly(A)-binding protein nuclear 1 suppresses alternative cleavage and polyadenylation sites.
22249111 2012 Nuclear speckles are involved in nuclear aggregation of PABPN1 and in the pathophysiology of oculopharyngeal muscular dystrophy.
22231868 2012 Genotype and phenotype study of 34 Spanish patients diagnosed with oculopharyngeal muscular dystrophy.
22223895 2012 Comparative large scale characterization of plant versus mammal proteins reveals similar and idiosyncratic N-?-acetylation features.
21956377 2012 Executive functions are impaired in heterozygote patients with oculopharyngeal muscular dystrophy.
21854744 2011 Modeling oculopharyngeal muscular dystrophy in myotube cultures reveals reduced accumulation of soluble mutant PABPN1 protein.
21808065 2011 Arginine methylation of the nuclear poly(a) binding protein weakens the interaction with its nuclear import receptor, transportin.
21700224 2011 Human senataxin resolves RNA/DNA hybrids formed at transcriptional pause sites to promote Xrn2-dependent termination.
21647273 2011 A GCG expansion (GCG)?? in polyadenylate-binding protein nuclear 1 gene caused oculopharyngeal muscular dystrophy in a Chinese family.
21545772 Oculopharyngeal muscle dystrophy: fine structure and mRNA expression levels of PABPN1.
21406692 2011 System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.
21269460 2011 Initial characterization of the human central proteome.
21089175 2010 Gene diagnosis of oculopharyngeal muscular dystrophy in a Chinese family by a GeneScan method.
20467437 2010 Direct interaction between hnRNP-M and CDC5L/PLRG1 proteins affects alternative splice site choice.
20226184 2010 Structural basis for a PABPN1 aggregation-preventing antibody fragment in OPMD.
20068231 2010 Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
19773279 2009 Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity.
19690332 2009 Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.
19641605 2009 Hsp70 chaperones and type I PRMTs are sequestered at intranuclear inclusions caused by polyalanine expansions in PABPN1.
19515850 2009 Functional role for senataxin, defective in ataxia oculomotor apraxia type 2, in transcriptional regulation.
19413330 2009 Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.
19364924 2009 A conserved CCCH-type zinc finger protein regulates mRNA nuclear adenylation and export.
19101703 2009 Study of a Taiwanese family with oculopharyngeal muscular dystrophy.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
18577936 2008 [The clinical-genealogic and molecular-genetic characteristics of oculopharyngeal muscular dystrophy in the Republic of Sakha (Yakutia)].
18577654 2008 Two different PABPN1 expanded alleles in a Mexican population with oculopharyngeal muscular dystrophy arising from independent founder effects.
18495660 2008 Promiscuous modification of the nuclear poly(A)-binding protein by multiple protein-arginine methyltransferases does not affect the aggregation behavior.
18397876 2008 Sirtuin inhibition protects from the polyalanine muscular dystrophy protein PABPN1.
18343218 2008 Induction of expression and co-localization of heat shock polypeptides with the polyalanine expansion mutant of poly(A)-binding protein N1 after chemical stress.
18274805 2008 Unique PABPN1 gene mutation in a large Bulgarian family with OPMD.
18178579 2008 Wild-type PABPN1 is anti-apoptotic and reduces toxicity of the oculopharyngeal muscular dystrophy mutation.
18175083 2007 An apparently sporadic case of oculopharyngeal muscular dystrophy: the first Italian report.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17418585 2007 Soluble expanded PABPN1 promotes cell death in oculopharyngeal muscular dystrophy.
17289661 2007 Molecular composition of IMP1 ribonucleoprotein granules.
17229142 2007 Effect of oculopharyngeal muscular dystrophy-associated extension of seven alanines on the fibrillation properties of the N-terminal domain of PABPN1.
17081983 2006 Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.
17005403 2006 Premature proliferative arrest of cricopharyngeal myoblasts in oculo-pharyngeal muscular dystrophy: Therapeutic perspectives of autologous myoblast transplantation.
16860991 2006 The dynamism of PABPN1 nuclear inclusions during the cell cycle.
16378590 2006 Ectopic expression of a polyalanine expansion mutant of poly(A)-binding protein N1 in muscle cells in culture inhibits myogenesis.
16239242 2005 Induction of HSP70 expression and recruitment of HSC70 and HSP70 in the nucleus reduce aggregation of a polyalanine expansion mutant of PABPN1 in HeLa cells.
16101680 2005 Cytoplasmic targeting of mutant poly(A)-binding protein nuclear 1 suppresses protein aggregation and toxicity in oculopharyngeal muscular dystrophy.
15755680 2005 Transgenic expression of an expanded (GCG)13 repeat PABPN1 leads to weakness and coordination defects in mice.
15725589 2005 Oculopharyngeal muscular dystrophy with PABPN1 mutation in a Chinese Malaysian woman.
15694141 2005 (GCG)11 founder mutation in the PABPN1 gene of OPMD Uruguayan families.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15169763 2004 Distinct sequence motifs within the 68-kDa subunit of cleavage factor Im mediate RNA binding, protein-protein interactions, and subcellular localization.
14663186 2003 An aggregate-prone conformational epitope in trinucleotide repeat diseases.
12945950 2003 HnRNP A1 and A/B interaction with PABPN1 in oculopharyngeal muscular dystrophy.
12673802 2003 Oculopharyngeal muscular dystrophy (OPMD) due to a small duplication in the PABPN1 gene.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12226669 2002 Comprehensive proteomic analysis of the human spliceosome.
11689481 2001 Oligomerization of polyalanine expanded PABPN1 facilitates nuclear protein aggregation that is associated with cell death.
11371506 2001 The product of an oculopharyngeal muscular dystrophy gene, poly(A)-binding protein 2, interacts with SKIP and stimulates muscle-specific gene expression.
11222452 2001 Oculopharyngeal muscular dystrophy: phenotypic and genotypic studies in a UK population.
11001936 2000 Nuclear inclusions in oculopharyngeal muscular dystrophy consist of poly(A) binding protein 2 aggregates which sequester poly(A) RNA.
10688363 2000 Deciphering the cellular pathway for transport of poly(A)-binding protein II.
10543404 1999 Chromosomal localization of three human poly(A)-binding protein genes and four related pseudogenes.
10358005 1999 The eukaryotic polypeptide chain releasing factor (eRF3/GSPT) carrying the translation termination signal to the 3'-Poly(A) tail of mRNA. Direct association of erf3/GSPT with polyadenylate-binding protein.
10224081 1999 Unusual sites of arginine methylation in Poly(A)-binding protein II and in vitro methylation by protein arginine methyltransferases PRMT1 and PRMT3.
10205180 1999 Influenza A virus NS1 protein targets poly(A)-binding protein II of the cellular 3'-end processing machinery.
9462747 1998 Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.
7795598 1995 The oculopharyngeal muscular dystrophy locus maps to the region of the cardiac alpha and beta myosin heavy chain genes on chromosome 14q11.2-q13.