PABPN1

PABPN1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 3B4D, 3B4M, 3UCG
Identifiers
Aliases	PABPN1, OPMD, PAB2, PABII, PABP-2, PABP2, poly(A) binding protein nuclear 1
External IDs	OMIM: 602279; MGI: 1859158; HomoloGene: 3412; GeneCards: PABPN1; OMA:PABPN1 - orthologs
Gene location (Human) Chr. Chromosome 14 (human) Band 14q11.2 Start 23,321,457 bp End 23,326,163 bp
Gene location (Mouse) Chr. Chromosome 14 (mouse) Band 14 C3|14 27.98 cM Start 55,129,957 bp End 55,135,626 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right testis left testis right hemisphere of cerebellum right uterine tube anterior pituitary body of uterus right lobe of thyroid gland left lobe of thyroid gland ganglionic eminence sural nerve Top expressed in neural layer of retina ventricular zone tail of embryo renal corpuscle superior frontal gyrus genital tubercle primary visual cortex epiblast lip dentate gyrus of hippocampal formation granule cell More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding nucleic acid binding RNA binding RNA polymerase binding Cellular component cytoplasm nucleoplasm nuclear inclusion body nucleus nuclear speck ribonucleoprotein complex Biological process mRNA splicing, via spliceosome termination of RNA polymerase II transcription RNA processing muscle contraction mRNA processing poly(A)+ mRNA export from nucleus modification by virus of host mRNA processing mRNA 3'-end processing MAPK cascade cellular response to lipopolysaccharide positive regulation of polynucleotide adenylyltransferase activity Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 8106 54196 Ensembl ENSG00000100836 ENSMUSG00000022194 UniProt Q86U42 Q8CCS6 RefSeq (mRNA) NM_004643 NM_001360551 NM_001360552 NM_019402 RefSeq (protein) NP_004634 NP_001347480 NP_001347481 NP_062275 Location (UCSC) Chr 14: 23.32 – 23.33 Mb Chr 14: 55.13 – 55.14 Mb PubMed search
Wikidata
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Polyadenylate-binding protein 2 (PABP-2) also known as polyadenylate-binding nuclear protein 1 (PABPN1) is a protein that in humans is encoded by the PABPN1 gene. PABN1 is a member of a larger family of poly(A)-binding proteins in the human genome.

Function

This gene encodes an abundant nuclear protein that binds with high affinity to nascent poly(A) tails. The protein is required for progressive and efficient polymerization of poly(A) tails on the 3' ends of eukaryotic genes and controls the size of the poly(A) tail to about 250 nt. At steady-state, this protein is localized in the nucleus whereas a different poly(A) binding protein is localized in the cytoplasm. An expansion of the trinucleotide (GCN) repeat from normal 10 to 11-17 at the 5' end of the coding region of this gene leads to autosomal dominant oculopharyngeal muscular dystrophy (OPMD) disease. Multiple splice variants have been described but their full-length nature is not known. One splice variant includes introns 1 and 6 but no protein is formed.

Interactions

PABPN1 has been shown to interact with SNW1.

Further reading

• Brais B, Bouchard JP, Xie YG, Rochefort DL, Chrétien N, Tomé FM, Lafrenière RG, Rommens JM, Uyama E, Nohira O, Blumen S, Korczyn AD, Heutink P, Mathieu J, Duranceau A, Codère F, Fardeau M, Rouleau GA, Korcyn AD (1998). "Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy" (PDF). Nat. Genet. 18 (2): 164–7. doi:10.1038/ng0298-164. PMID 9462747. S2CID 20485694.
• Chen Z, Li Y, Krug RM (1999). "Influenza A virus NS1 protein targets poly(A)-binding protein II of the cellular 3'-end processing machinery". EMBO J. 18 (8): 2273–83. doi:10.1093/emboj/18.8.2273. PMC 1171310. PMID 10205180.
• Smith JJ, Rücknagel KP, Schierhorn A, Tang J, Nemeth A, Linder M, Herschman HR, Wahle E (1999). "Unusual sites of arginine methylation in Poly(A)-binding protein II and in vitro methylation by protein arginine methyltransferases PRMT1 and PRMT3". J. Biol. Chem. 274 (19): 13229–34. doi:10.1074/jbc.274.19.13229. PMID 10224081.
• Hoshino S, Imai M, Kobayashi T, Uchida N, Katada T (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". J. Biol. Chem. 274 (24): 16677–80. doi:10.1074/jbc.274.24.16677. PMID 10358005.
• Féral C, Mattéi MG, Pawlak A, Guellaën G (1999). "Chromosomal localization of three human poly(A)-binding protein genes and four related pseudogenes". Hum. Genet. 105 (4): 347–53. doi:10.1007/s004399900148. PMC 1865476. PMID 10543404.
• Calado A, Kutay U, Kühn U, Wahle E, Carmo-Fonseca M (2000). "Deciphering the cellular pathway for transport of poly(A)-binding protein II". RNA. 6 (2): 245–56. doi:10.1017/S1355838200991908. PMC 1369910. PMID 10688363.
• Calado A, Tomé FM, Brais B, Rouleau GA, Kühn U, Wahle E, Carmo-Fonseca M (2001). "Nuclear inclusions in oculopharyngeal muscular dystrophy consist of poly(A) binding protein 2 aggregates which sequester poly(A) RNA". Hum. Mol. Genet. 9 (15): 2321–8. doi:10.1093/oxfordjournals.hmg.a018924. PMID 11001936.
• Kim YJ, Noguchi S, Hayashi YK, Tsukahara T, Shimizu T, Arahata K (2001). "The product of an oculopharyngeal muscular dystrophy gene, poly(A)-binding protein 2, interacts with SKIP and stimulates muscle-specific gene expression". Hum. Mol. Genet. 10 (11): 1129–39. doi:10.1093/hmg/10.11.1129. PMID 11371506.
• Fan X, Dion P, Laganiere J, Brais B, Rouleau GA (2002). "Oligomerization of polyalanine expanded PABPN1 facilitates nuclear protein aggregation that is associated with cell death". Hum. Mol. Genet. 10 (21): 2341–51. doi:10.1093/hmg/10.21.2341. PMID 11689481.
• van der Sluijs BM, van Engelen BG, Hoefsloot LH (2003). "Oculopharyngeal muscular dystrophy (OPMD) due to a small duplication in the PABPN1 gene". Hum. Mutat. 21 (5): 553. doi:10.1002/humu.9138. PMID 12673802. S2CID 21834985.
• Fan X, Messaed C, Dion P, Laganiere J, Brais B, Karpati G, Rouleau GA (2003). "HnRNP A1 and A/B interaction with PABPN1 in oculopharyngeal muscular dystrophy". The Canadian Journal of Neurological Sciences. 30 (3): 244–51. doi:10.1017/s0317167100002675. PMID 12945950.
• Sugaya K, Matsubara S, Miyamoto K, Kawata A, Hayashi H (2004). "An aggregate-prone conformational epitope in trinucleotide repeat diseases". NeuroReport. 14 (18): 2331–5. doi:10.1097/00001756-200312190-00009. PMID 14663186. S2CID 33121469.
• Villacé P, Marión RM, Ortín J (2004). "The composition of Staufen-containing RNA granules from human cells indicates their role in the regulated transport and translation of messenger RNAs". Nucleic Acids Res. 32 (8): 2411–20. doi:10.1093/nar/gkh552. PMC 419443. PMID 15121898.
• Dettwiler S, Aringhieri C, Cardinale S, Keller W, Barabino SM (2005). "Distinct sequence motifs within the 68-kDa subunit of cleavage factor Im mediate RNA binding, protein-protein interactions, and subcellular localization" (PDF). J. Biol. Chem. 279 (34): 35788–97. doi:10.1074/jbc.M403927200. PMID 15169763.
• Rodríguez M, Camejo C, Bertoni B, Braida C, Rodríguez MM, Brais B, Medici M, Roche L (2005). "(GCG)11 founder mutation in the PABPN1 gene of OPMD Uruguayan families". Neuromuscul. Disord. 15 (2): 185–90. doi:10.1016/j.nmd.2004.10.012. PMID 15694141. S2CID 34476481.
• Goh KJ, Wong KT, Nishino I, Minami N, Nonaka I (2005). "Oculopharyngeal muscular dystrophy with PABPN1 mutation in a Chinese Malaysian woman". Neuromuscul. Disord. 15 (3): 262–4. doi:10.1016/j.nmd.2004.10.016. PMID 15725589. S2CID 20351112.
• Dion P, Shanmugam V, Gaspar C, Messaed C, Meijer I, Toulouse A, Laganiere J, Roussel J, Rochefort D, Laganiere S, Allen C, Karpati G, Bouchard JP, Brais B, Rouleau GA (2005). "Transgenic expression of an expanded (GCG)13 repeat PABPN1 leads to weakness and coordination defects in mice". Neurobiol. Dis. 18 (3): 528–36. doi:10.1016/j.nbd.2004.09.021. PMID 15755680. S2CID 39329667.

External links

• GeneReviews/NCBI/NIH/UW entry on Oculopharyngeal Muscular Dystrophy
• PDBe-KB provides an overview of all the structure information available in the PDB for Human Polyadenylate-binding protein 2