PABPN1

PABPN1
Dostupne strukture
PDB	Pretraga ortologa: PDBe RCSB
Spisak PDB ID kodova
	3B4D, 3B4M, 3UCG
Identifikatori
Aliasi	PABPN1
Vanjski ID-jevi	OMIM: 602279 MGI: 1859158 HomoloGene: 3412 GeneCards: PABPN1
Lokacija gena (čovjek)
Hrom.	Hromosom 14 (čovjek)
Kraj	23,326,163 bp
Lokacija gena (miš)
Hrom.	Hromosom 14 (miš)
Kraj	55,135,626 bp
Obrazac RNK ekspresije
	; ;
	Više referentnih podataka o ekspresiji
Ontologija gena
Molekularna funkcija	• GO:0001948, GO:0016582 vezivanje za proteine; • nucleic acid binding; • vezivanje sa RNK; • RNA polymerase binding;
Ćelijska komponenta	• citoplazma; • nukleoplazma; • nuclear inclusion body; • jedro; • nuclear speck; • ribonukleoprotein;
Biološki proces	• mRNA splicing, via spliceosome; • termination of RNA polymerase II transcription; • GO:0033168, GO:0036404, GO:1902360 RNA processing; • Mišićna kontrakcija; • 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;
	Izvori:Amigo / QuickGO
Ortolozi
	8106
	54196
	ENSG00000100836
	ENSMUSG00000022194
	Q86U42
	Q8CCS6
	NM_004643; NM_001360551; NM_001360552
	NM_019402
	NP_004634; NP_001347480; NP_001347481
	NP_062275
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

Poliadenilat-vezujući protein 2 (PABP-2), poznat i kao jedarni poliadenilat-vezujući protein 1 (PABPN1) je protein koji je kodiran genom PABPN1.^[5]^[6] PABN1 je član šire porodice poli(A)-vezujućih proteine u ljudskom genomu.

Funkcija

Ovaj gen kodira obilni jedarni protein koji se s velikim afinitetom veže za novonastale poli (A) repove. Protein je potreban za progresivnu i efikasnu polimerizaciju poli (A) repova na 3' krajevima eukariotskih gena i kontrolira veličinu poli (A) repa na oko 250 nt. U stanju ravnoteže, ovaj protein je lokaliziran u jedru, dok je različiti protein koji veže poli (A) lokaliziran u citoplazmi. Ekspanzija trinukleotida (GCN) ponavlja se sa normalnih 10 na 11-17 na 5' kraju kodirajuće regije ovog gena dovodi do autosomno dominantne okulofarinksne mišićne distrofije (OPMD).^[7] Opisane su višestruke varijante prerade, ali njihova priroda u punoj dužini nije poznata. Jedna uključuje introne 1 i 6, ali ne stvara se protein.^[6]

Interakcije

Pokazano je da PABPN1 ima interakcije sa SNW1.^[8]

Reference

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000100836 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000022194 - Ensembl, maj 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Brais B, Xie YG, Sanson M, Morgan K, Weissenbach J, Korczyn AD, Blumen SC, Fardeau M, Tomé FM, Bouchard JP (Aug 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. doi:10.1093/hmg/4.3.429. PMID 7795598.
^ ^a ^b "Entrez Gene: PABPN1 poly(A) binding protein, nuclear 1".
^ Brais B (januar 2009). "Oculopharyngeal muscular dystrophy: a polyalanine myopathy". Current Neurology and Neuroscience Reports. 9 (1): 76–82. doi:10.1007/s11910-009-0012-y. PMID 19080757.
^ Kim YJ, Noguchi S, Hayashi YK, Tsukahara T, Shimizu T, Arahata K (maj 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. England. 10 (11): 1129–39. doi:10.1093/hmg/10.11.1129. ISSN 0964-6906. PMID 11371506.

Dopunska literartura

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". 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. 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/s004390051113. 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.
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.
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.
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.
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.

Vanjski linkovi

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

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000100836 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000022194 - Ensembl, maj 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid7795598-5] Brais B, Xie YG, Sanson M, Morgan K, Weissenbach J, Korczyn AD, Blumen SC, Fardeau M, Tomé FM, Bouchard JP (Aug 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. doi:10.1093/hmg/4.3.429. PMID 7795598.

[entrez-6] "Entrez Gene: PABPN1 poly(A) binding protein, nuclear 1".

[7] Brais B (januar 2009). "Oculopharyngeal muscular dystrophy: a polyalanine myopathy". Current Neurology and Neuroscience Reports. 9 (1): 76–82. doi:10.1007/s11910-009-0012-y. PMID 19080757.

[pmid11371506-8] Kim YJ, Noguchi S, Hayashi YK, Tsukahara T, Shimizu T, Arahata K (maj 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. England. 10 (11): 1129–39. doi:10.1093/hmg/10.11.1129. ISSN 0964-6906. PMID 11371506.

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