PABPN1

PABPN1
已知的結構
PDB	直系同源搜索: PDBe RCSB
PDBID列表
	3B4D、3B4M、3UCG
識別號
别名	PABPN1；, OPMD, PAB2, PABII, PABP-2, PABP2, poly(A) binding protein nuclear 1
外部ID	OMIM：602279 MGI：1859158 HomoloGene：3412 GeneCards：PABPN1
相關疾病
	眼咽肌营养不良
基因位置（人类）
染色体	14號染色體
终止	23,326,163 bp
基因位置（小鼠）
染色体	小鼠14号染色体
终止	55,135,626 bp
RNA表达模式
	; ;
	查阅更多表达数据
基因本體
分子功能	• 血浆蛋白结合; • nucleic acid binding; • RNA binding; • RNA polymerase binding;
細胞組分	• 細胞質; • 核质; • nuclear inclusion body; • 细胞核; • nuclear speck; • 核糖核蛋白;
生物學過程	• mRNA splicing, via spliceosome; • termination of RNA polymerase II transcription; • RNA processing; • 肌肉收缩; • 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
直系同源
	8106
	54196
	ENSG00000100836
	ENSMUSG00000022194
	Q86U42
	Q8CCS6
	NM_004643; NM_001360551; NM_001360552
	NM_019402
	NP_004634; NP_001347480; NP_001347481
	NP_062275
	維基數據
檢視/編輯人類	檢視/編輯小鼠

PABPN1（PABP-2）全名為多聚腺苷酸結合核蛋白1（polyadenylate-binding nuclear protein 1），在人類基因組中由14號染色體編碼，是一種多聚腺苷酸結合蛋白（PABP）^[6]^[7]。此蛋白位於細胞核中，其N端有一捲曲螺旋結構域，中間為RNA识别基序（英语：RNA recognition motif）（RRM），C端則有核定位序列^[8]。在mRNA轉錄結束後即參與多腺苷酸化的反應，以N端與多聚腺苷酸聚合酶（英语：Polynucleotide adenylyltransferase）（PAP）結合，並以RRM與剛生成的多腺苷酸尾結合以促進多腺苷酸化進行^[8]，且可抑制細胞在較靠近終止密碼子的多腺苷酸化訊號（PAS）以CPSF切割mRNA並加上多腺苷酸尾，促使其使用距離較遠的多腺苷酸化訊號，因而形成較長的3'非轉譯區（3'UTR）^[9]。

遺傳疾病眼咽型肌营养不良（英语：oculopharyngeal muscular dystrophy）（OPMD）即爲PABPN1基因突變，使其N端多出了數個丙氨酸重複所致^[10]。

參考文獻

^ 與PABPN1相關的疾病；在維基數據上查看/編輯參考.
^ ^2.0 ^2.1 ^2.2 GRCh38: Ensembl release 89: ENSG00000100836 - Ensembl, May 2017
^ ^3.0 ^3.1 ^3.2 GRCm38: Ensembl release 89: ENSMUSG00000022194 - Ensembl, May 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. 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. Aug 1995, 4 (3): 429–34. PMID 7795598. doi:10.1093/hmg/4.3.429.
^ Entrez Gene: PABPN1 poly(A) binding protein, nuclear 1. [2021-05-03]. （原始内容存档于2010-03-06）.
^ ^8.0 ^8.1 Banerjee A, Apponi LH, Pavlath GK, Corbett AH. PABPN1: molecular function and muscle disease.. FEBS J. 2013, 280 (17): 4230–50. PMC 3786098 . PMID 23601051. doi:10.1111/febs.12294.
^ Jenal M, Elkon R, Loayza-Puch F, van Haaften G, Kühn U, Menzies FM; et al. The poly(A)-binding protein nuclear 1 suppresses alternative cleavage and polyadenylation sites.. Cell. 2012, 149 (3): 538–53. PMID 22502866. doi:10.1016/j.cell.2012.03.022.
^ Riaz M, Raz Y, van Putten M, Paniagua-Soriano G, Krom YD, Florea BI; et al. PABPN1-Dependent mRNA Processing Induces Muscle Wasting.. PLoS Genet. 2016, 12 (5): e1006031. PMC 4859507 . PMID 27152426. doi:10.1371/journal.pgen.1006031.

[1] 與PABPN1相關的疾病；在維基數據上查看/編輯參考.

[refGRCh38Ensembl-2] 2.0 ^2.1 ^2.2 GRCh38: Ensembl release 89: ENSG00000100836 - Ensembl, May 2017

[refGRCm38Ensembl-3] 3.0 ^3.1 ^3.2 GRCm38: Ensembl release 89: ENSMUSG00000022194 - Ensembl, May 2017

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

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

[pmid7795598-6] Brais B, Xie YG, Sanson M, Morgan K, Weissenbach J, Korczyn AD, Blumen SC, Fardeau M, Tomé FM, Bouchard JP. 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. Aug 1995, 4 (3): 429–34. PMID 7795598. doi:10.1093/hmg/4.3.429.

[entrez-7] Entrez Gene: PABPN1 poly(A) binding protein, nuclear 1. [2021-05-03]. （原始内容存档于2010-03-06）.

[pmid23601051-8] 8.0 ^8.1 Banerjee A, Apponi LH, Pavlath GK, Corbett AH. PABPN1: molecular function and muscle disease.. FEBS J. 2013, 280 (17): 4230–50. PMC 3786098 . PMID 23601051. doi:10.1111/febs.12294.

[pmid22502866-9] Jenal M, Elkon R, Loayza-Puch F, van Haaften G, Kühn U, Menzies FM; et al. The poly(A)-binding protein nuclear 1 suppresses alternative cleavage and polyadenylation sites.. Cell. 2012, 149 (3): 538–53. PMID 22502866. doi:10.1016/j.cell.2012.03.022.

[pmid27152426-10] Riaz M, Raz Y, van Putten M, Paniagua-Soriano G, Krom YD, Florea BI; et al. PABPN1-Dependent mRNA Processing Induces Muscle Wasting.. PLoS Genet. 2016, 12 (5): e1006031. PMC 4859507 . PMID 27152426. doi:10.1371/journal.pgen.1006031.

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