PABPN1
外觀
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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識別基序(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]。
遺傳疾病眼咽型肌營養不良(OPMD)即爲PABPN1基因突變,使其N端多出了數個丙胺酸重複所致[10]。
參考文獻
[編輯]- ^ 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]. (原始內容存檔於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.
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