Property Summary

NCBI Gene PubMed Count 75
PubMed Score 299.42
PubTator Score 161.50

Knowledge Summary


No data available


  Disease Sources (4)

Disease Target Count
Muscular Dystrophy, Oculopharyngeal 1
Disease Target Count P-value
ovarian cancer 8492 2.93682036940083E-5
lung cancer 4473 9.54763149688795E-5
malignant mesothelioma 3163 1.37569511533935E-4
osteosarcoma 7933 9.95964510190927E-4
astrocytic glioma 2241 0.00814653937622068
oligodendroglioma 2849 0.0148727465237592
ependymoma 2514 0.0167069807639232
colon cancer 1475 0.0196917919852756
Disease Target Count
Oculopharyngeal muscular dystrophy 3


  Differential Expression (8)

Disease log2 FC p
malignant mesothelioma -1.500 0.000
astrocytic glioma 1.200 0.008
ependymoma 1.100 0.017
oligodendroglioma 1.200 0.015
osteosarcoma 1.281 0.001
colon cancer -1.600 0.020
lung cancer 1.900 0.000
ovarian cancer -1.100 0.000


Accession Q86U42 D3DS49 O43484 PABP-2
Symbols OPMD



3B4D   3B4M   3UCG  

  Ortholog (8)

Species Source
Chimp OMA EggNOG
Macaque OMA EggNOG
Rat OMA Inparanoid
Dog OMA Inparanoid
Cow OMA Inparanoid
Pig OMA Inparanoid
Xenopus OMA Inparanoid
Zebrafish OMA Inparanoid

Gene RIF (50)

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.

AA Sequence

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.