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[1]
基因位置（人类）
染色体	14號染色體[2]
终止	23,326,163 bp[2]
基因位置（小鼠）
染色体	小鼠14号染色体[3]
终止	55,135,626 bp[3]
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

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（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（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（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

.
GRCh38: Ensembl release 89: ENSG00000100836 - Ensembl, May 2017
GRCm38: Ensembl release 89: ENSMUSG00000022194 - Ensembl, May 2017
. National Center for Biotechnology Information, U.S. National Library of Medicine.
. 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. . Hum Mol Genet. Aug 1995, 4 (3): 429–34. PMID 7795598. doi:10.1093/hmg/4.3.429.
. [2021-05-03]. （原始内容存档于2010-03-06）.
Banerjee A, Apponi LH, Pavlath GK, Corbett AH. . 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. . 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. . PLoS Genet. 2016, 12 (5): e1006031. PMC 4859507 . PMID 27152426. doi:10.1371/journal.pgen.1006031.

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[1] .

[refGRCh38Ensembl-2] GRCh38: Ensembl release 89: ENSG00000100836 - Ensembl, May 2017

[refGRCm38Ensembl-3] GRCm38: Ensembl release 89: ENSMUSG00000022194 - Ensembl, May 2017

[4] . National Center for Biotechnology Information, U.S. National Library of Medicine.

[5] . 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. . Hum Mol Genet. Aug 1995, 4 (3): 429–34. PMID 7795598. doi:10.1093/hmg/4.3.429.

[entrez-7] . [2021-05-03]. （原始内容存档于2010-03-06）.

[pmid23601051-8] Banerjee A, Apponi LH, Pavlath GK, Corbett AH. . 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. . 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. . PLoS Genet. 2016, 12 (5): e1006031. PMC 4859507 . PMID 27152426. doi:10.1371/journal.pgen.1006031.