PABPN1

From Wikipedia, the free encyclopedia

Poly(A) binding protein, nuclear 1

Identifiers

PABPN1; OPMD; PAB2; PABP2

External IDs

OMIM: 602279 MGI: 1859158 HomoloGene: 3412

Gene ontology
Molecular Function:	• nucleotide binding • RNA binding • protein binding
Cellular Component:	• nucleus
Biological Process:	• mRNA processing • muscle contraction

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_004643 (mRNA)
NP_004634 (protein)

NM_019402 (mRNA)
NP_062275 (protein)

Location

Chr 14: 22.86 - 22.87 Mb

Chr 14: 53.85 - 53.85 Mb

Pubmed search

[1]

[2]

Poly(A) binding protein, nuclear 1, also known as PABPN1, is a human gene.^[1]

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 (GCG) repeat from normal 6 to 8-13 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.^[1]

[edit] References

^ ^a ^b Entrez Gene: PABPN1 poly(A) binding protein, nuclear 1.

[edit] Further reading

Brais B, Xie YG, Sanson M, et al. (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.". Hum. Mol. Genet. 4 (3): 429–34. PMID 7795598.
Brais B, Bouchard JP, Xie YG, et al. (1998). "Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy.". Nat. Genet. 18 (2): 164–7. doi:10.1038/ng0298-164. PMID 9462747.
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. PMID 10205180.
Smith JJ, Rücknagel KP, Schierhorn A, et al. (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. PMID 10224081.
Hoshino S, Imai M, Kobayashi T, et al. (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. 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. PMID 10543404.
Calado A, Kutay U, Kühn U, et al. (2000). "Deciphering the cellular pathway for transport of poly(A)-binding protein II.". RNA 6 (2): 245–56. PMID 10688363.
Calado A, Tomé FM, Brais B, et al. (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. PMID 11001936.
Kim YJ, Noguchi S, Hayashi YK, et al. (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. PMID 11371506.
Fan X, Dion P, Laganiere J, et al. (2002). "Oligomerization of polyalanine expanded PABPN1 facilitates nuclear protein aggregation that is associated with cell death.". Hum. Mol. Genet. 10 (21): 2341–51. PMID 11689481.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.
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.
Fan X, Messaed C, Dion P, et al. (2003). "HnRNP A1 and A/B interaction with PABPN1 in oculopharyngeal muscular dystrophy.". The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques 30 (3): 244–51. PMID 12945950.
Sugaya K, Matsubara S, Miyamoto K, et al. (2004). "An aggregate-prone conformational epitope in trinucleotide repeat diseases.". Neuroreport 14 (18): 2331–5. doi:10.1097/01.wnr.0000089568.45990.3d. PMID 14663186.
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. PMID 15121898.
Dettwiler S, Aringhieri C, Cardinale S, et al. (2005). "Distinct sequence motifs within the 68-kDa subunit of cleavage factor Im mediate RNA binding, protein-protein interactions, and subcellular localization.". J. Biol. Chem. 279 (34): 35788–97. doi:10.1074/jbc.M403927200. PMID 15169763.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.
Rodríguez M, Camejo C, Bertoni B, et al. (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.
Goh KJ, Wong KT, Nishino I, et al. (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.
Dion P, Shanmugam V, Gaspar C, et al. (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.