PABPN1

PABPN1
已知的结构
PDB	直系同源搜索: PDBe RCSB
PDBID列表
	3B4D、3B4M、3UCG
识别号
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
相关疾病
	眼咽肌营养不良
基因位置（人类）
染色体	14号染色体
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
基因本体
分子功能	• 血浆蛋白结合; • nucleic acid binding; • RNA binding; • RNA polymerase binding;
细胞组分	• 细胞质; • 核质; • nuclear inclusion body; • 细胞核; • nuclear speck; • 核糖核蛋白;
生物学过程	• 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
	维基数据
查看/编辑人类	查看/编辑小鼠

PABPN1（PABP-2）全名为多聚腺苷酸结合核蛋白1（polyadenylate-binding nuclear protein 1），在人类基因组中由14号染色体编码，是一种多聚腺苷酸结合蛋白（PABP）^[6]^[7]。此蛋白位于细胞核中，其N端有一卷曲螺旋结构域，中间为RNA识别基序（英语：RNA recognition motif）（RRM），C端则有核定位序列^[8]。在mRNA转录结束后即参与多腺苷酸化的反应，以N端与多聚腺苷酸聚合酶（英语：Polynucleotide adenylyltransferase）（PAP）结合，并以RRM与刚生成的多腺苷酸尾结合以促进多腺苷酸化进行^[8]，且可抑制细胞在较靠近终止密码子的多腺苷酸化讯号（PAS）以CPSF切割mRNA并加上多腺苷酸尾，促使其使用距离较远的多腺苷酸化讯号，因而形成较长的3'非翻译区（3'UTR）^[9]。

遗传疾病眼咽型肌营养不良（英语：oculopharyngeal muscular dystrophy）（OPMD）即为PABPN1基因突变，使其N端多出了数个丙氨酸重复所致^[10]。

参考文献

^ 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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