ID:PABP2_HUMAN DESCRIPTION: RecName: Full=Polyadenylate-binding protein 2; Short=PABP-2; Short=Poly(A)-binding protein 2; AltName: Full=Nuclear poly(A)-binding protein 1; AltName: Full=Poly(A)-binding protein II; Short=PABII; AltName: Full=Polyadenylate-binding nuclear protein 1; FUNCTION: Involved in the 3'-end formation of mRNA precursors (pre-mRNA) by the addition of a poly(A) tail of 200-250 nt to the upstream cleavage product. Stimulates poly(A) polymerase (PAPOLA) conferring processivity on the poly(A) tail elongation reaction and controls also the poly(A) tail length. Increases the affinity of poly(A) polymerase for RNA. Is also present at various stages of mRNA metabolism including nucleocytoplasmic trafficking and nonsense-mediated decay (NMD) of mRNA. Cooperates with SKIP to synergistically activate E-box-mediated transcription through MYOD1 and may regulate the expression of muscle-specific genes. Binds to poly(A) and to poly(G) with high affinity. May protect the poly(A) tail from degradation (By similarity). SUBUNIT: Monomer and homooligomer. Binds RNA as a monomer and oligomerizes when bound to poly(A). Interacts with PAPOLA, but only in presence of oligo(A) RNA. Interacts with transportin (By similarity). Identified in a mRNP granule complex, at least composed of ACTB, ACTN4, DHX9, ERG, HNRNPA1, HNRNPA2B1, HNRNPAB, HNRNPD, HNRNPL, HNRNPR, HNRNPU, HSPA1, HSPA8, IGF2BP1, ILF2, ILF3, NCBP1, NCL, PABPC1, PABPC4, PABPN1, RPLP0, RPS3, RPS3A, RPS4X, RPS8, RPS9, SYNCRIP, TROVE2, YBX1 and untranslated mRNAs. Association in a ternary complex with CPSF4 and influenza A virus NS1 blocks pre-mRNAs processing, thereby preventing nuclear export of host cell mRNAs. Associates in a single complex with SKIP and MYOD1 and interacts with SKIP in differentiated myocytes. Interacts with NUDT21/CPSF5. SUBCELLULAR LOCATION: Nucleus (By similarity). Cytoplasm. Note=Localized in cytoplasmic mRNP granules containing untranslated mRNAs. Shuttles between the nucleus and the cytoplasm but predominantly found in the nucleus. Its nuclear import may involve the nucleocytoplasmic transport receptor transportin and a RAN-GTP-sensitive import mechanism. Is exported to the cytoplasm by a carrier-mediated pathway that is independent of mRNA traffic. Nucleus; nuclear speckle. Colocalizes with SKIP and poly(A) RNA in nuclear speckles (By similarity). TISSUE SPECIFICITY: Ubiquitous. DOMAIN: The RRM domain is essential for specific adenine bases recognition in the poly(A) tail but not sufficient for poly(A) binding (By similarity). PTM: Arginine dimethylation is asymmetric and involves PRMT1 and PRMT3. It does not influence the RNA binding properties (By similarity). POLYMORPHISM: The poly-Ala region of PABPN1 is polymorphic (6-7 repeats) in the population and is expanded to 8-13 repeats in OPMD patients. Compound heterozygotes for (GCG)9 mutation and a (GCG)7 allele result in earlier onset and more severe clinical manifestations of the disease. DISEASE: Defects in PABPN1 are the cause of oculopharyngeal muscular dystrophy (OPMD) [MIM:164300]. OPMD is a form of late- onset slowly progressive myopathy characterized by eyelid ptosis, dysphagia and, sometimes by other cranial and limb-muscle involvement. MISCELLANEOUS: Intranuclear filamentous inclusions or "aggregates" are detected in the myocytes of patients; these inclusions contain PABPN1, ubiquitin, subunits of the proteasome and poly(A) RNA. The association of the expanded polyalanine mutations together with the capability to oligomerize may induce these inclusions and cell death. Expanded polyalanine mutations may either result from unequal crossing over during germ cell homologous recombination or from DNA slippage. The pathogenic mechanisms mediated by polyalanine expansion mutations may be either a general disruption of cellular RNA metabolism due to the trapping by the inclusions of PABPN1, mRNAs and/or nuclear proteins, resulting in the induction of cell death; or may change the normal muscle cell differentiation. SIMILARITY: Contains 1 RRM (RNA recognition motif) domain. SEQUENCE CAUTION: Sequence=CAD62310.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PABPN1";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q86U42
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
KJ904595 - Synthetic construct Homo sapiens clone ccsbBroadEn_13989 PABPN1 gene, encodes complete protein. BC011637 - Homo sapiens mRNA similar to BCL2-like 2 (cDNA clone IMAGE:4106836). BX247976 - human full-length cDNA clone CS0DF018YN09 of Fetal brain of Homo sapiens (human). BC010939 - Homo sapiens poly(A) binding protein, nuclear 1, mRNA (cDNA clone MGC:13564 IMAGE:4333442), complete cds. JC506674 - Sequence 42 from Patent EP2733220. JC737786 - Sequence 42 from Patent WO2014075939. JC506688 - Sequence 56 from Patent EP2733220. JC737800 - Sequence 56 from Patent WO2014075939. AK293633 - Homo sapiens cDNA FLJ57714 complete cds, highly similar to Poly(A)-binding protein 2. JD447837 - Sequence 428861 from Patent EP1572962. JD301832 - Sequence 282856 from Patent EP1572962. JD071665 - Sequence 52689 from Patent EP1572962. JD044229 - Sequence 25253 from Patent EP1572962. JD151861 - Sequence 132885 from Patent EP1572962. JD523310 - Sequence 504334 from Patent EP1572962. JD519683 - Sequence 500707 from Patent EP1572962. JD149134 - Sequence 130158 from Patent EP1572962. JD292772 - Sequence 273796 from Patent EP1572962. JD163634 - Sequence 144658 from Patent EP1572962. JD216104 - Sequence 197128 from Patent EP1572962. JD216105 - Sequence 197129 from Patent EP1572962. JD177794 - Sequence 158818 from Patent EP1572962. MP123763 - Sequence 2 from Patent EP3443091. MP123764 - Sequence 3 from Patent EP3443091. MP123762 - Sequence 1 from Patent EP3443091. MP369766 - Sequence 12 from Patent EP3555294. MP369757 - Sequence 3 from Patent EP3555294. MP369756 - Sequence 2 from Patent EP3555294. MP369767 - Sequence 13 from Patent EP3555294. MP369761 - Sequence 7 from Patent EP3555294. MP369764 - Sequence 10 from Patent EP3555294. MP369755 - Sequence 1 from Patent EP3555294. MP369765 - Sequence 11 from Patent EP3555294. MP369760 - Sequence 6 from Patent EP3555294. MP369759 - Sequence 5 from Patent EP3555294. MP369762 - Sequence 8 from Patent EP3555294. MP369758 - Sequence 4 from Patent EP3555294. MP369763 - Sequence 9 from Patent EP3555294.
Biochemical and Signaling Pathways
BioCarta from NCI Cancer Genome Anatomy Project h_cpsfPathway - Polyadenylation of mRNA
Reactome (by CSHL, EBI, and GO)
Protein Q86U42 (Reactome details) participates in the following event(s):
R-HSA-72231 Cleavage and Polyadenylation R-HSA-77591 Binding of Cleavage factors and Poly(A)Polymerase to the CstF:CPSF:Pre-mRNA Complex R-HSA-168883 Binding of NS1 to poly(A)-binding protein II (PABII) R-HSA-72185 mRNA polyadenylation R-HSA-77593 Cleavage and polyadenylation of Intronless Pre-mRNA R-HSA-72130 Formation of an intermediate Spliceosomal C (Bact) complex R-HSA-72180 Cleavage of mRNA at the 3'-end R-HSA-77592 Cleavage of Intronless Pre-mRNA at 3'-end R-HSA-72143 Lariat Formation and 5'-Splice Site Cleavage R-HSA-72139 Formation of the active Spliceosomal C (B*) complex R-HSA-8849157 TREX complex binds spliced, capped mRNA:CBC:EJC cotranscriptionally R-HSA-156661 Formation of Exon Junction Complex R-HSA-72163 mRNA Splicing - Major Pathway R-HSA-77595 Processing of Intronless Pre-mRNAs R-HSA-168315 Inhibition of Host mRNA Processing and RNA Silencing R-HSA-72187 mRNA 3'-end processing R-HSA-109688 Cleavage of Growing Transcript in the Termination Region R-HSA-72172 mRNA Splicing R-HSA-75067 Processing of Capped Intronless Pre-mRNA R-HSA-168276 NS1 Mediated Effects on Host Pathways R-HSA-72203 Processing of Capped Intron-Containing Pre-mRNA R-HSA-73856 RNA Polymerase II Transcription Termination R-HSA-8953854 Metabolism of RNA R-HSA-168253 Host Interactions with Influenza Factors R-HSA-73857 RNA Polymerase II Transcription R-HSA-168254 Influenza Infection R-HSA-74160 Gene expression (Transcription) R-HSA-5663205 Infectious disease R-HSA-1643685 Disease
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
