PRPF8 사용 가능한 구조물 PDB 직교 검색: PDBe RCSB PDB ID 코드 목록 3E9L , 3ENB , 3LRU , 4JK7 , 4JK8 , 4JK9 , 4JKA , 4JKB , 4JKC , 4JKD , 4JKE , 4JKF , 4JKG , 4JKH , 4KIT , 3JCR
식별자 별칭 PRPF8 외부 ID OMIM : 607300 MGI : 2179381 HomoloGene : 4706 GeneCard : PRPF8 직교체 종 인간 마우스 엔트레스 앙상블 유니프로트 RefSeq(mRNA) RefSeq(단백질) 위치(UCSC) Cr 17: 1.65 – 1.68Mb Cr 11: 75.38 – 75.4Mb PubMed 검색[3] [4] 위키다타
pre-mRNA-processing-splicing factor 8 은 인간에서 PRPF8 유전자 에 의해 인코딩 되는 단백질이다.[5] [6]
함수 사전 mRNA 스플리싱은 2개의 순차적인 시스터화 단계에서 발생한다. 이 유전자에 의해 인코딩된 단백질은 U2-와 U12 의존성 스플라이소솜의 성분으로, mRNA 스플라이싱 전 공정에서 촉매 단계 II에 필수적인 것으로 밝혀졌다. 단백질-단백질 상호작용에서 기능하는 몇 가지 WD 반복을 포함하고 있다. 이 단백질은 효모 Prp8 단백질과 염기서열 유사성이 있다. 이 유전자는 자가우위성 망막염 색소증의 후보 유전자다.[7]
상호작용 PRPF8은 WDR57 [8] [9] EFTUD2 와 상호작용 하는 것으로 나타났다.[9]
참조 ^ a b c ENSG00000174231 GRCh38: 앙상블 릴리스 89: ENSG00000274442, ENSG00000174231 - 앙상블 , 2017년 5월^ a b c GRCm38: 앙상블 릴리스 89: ENSMUSG000020850 - 앙상블 , 2017년 5월^ "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 .^ McKie AB, McHale JC, Keen TJ, Tarttelin EE, Goliath R, van Lith-Verhoeven JJ, Greenberg J, Ramesar RS, Hoyng CB, Cremers FP, Mackey DA, Bhattacharya SS, Bird AC, Markham AF, Inglehearn CF (Jul 2001). "Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13)" . Human Molecular Genetics . 10 (15): 1555–62. doi :10.1093/hmg/10.15.1555 PMID 11468273 . ^ Luo HR, Moreau GA, Levin N, Moore MJ (Jul 1999). "The human Prp8 protein is a component of both U2- and U12-dependent spliceosomes" . RNA . 5 (7): 893–908. doi :10.1017/S1355838299990520 . 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Bibcode :1989PNAS...86.8742P . doi :10.1073/pnas.86.22.8742 PMC 298364 PMID 2479028 . Bach M, Winkelmann G, Lührmann R (Aug 1989). "20S small nuclear ribonucleoprotein U5 shows a surprisingly complex protein composition" . Proceedings of the National Academy of Sciences of the United States of America . 86 (16): 6038–42. Bibcode :1989PNAS...86.6038B . doi :10.1073/pnas.86.16.6038 PMC 297770 PMID 2527369 . Anderson GJ, Bach M, Lührmann R, Beggs JD (Dec 1989). "Conservation between yeast and man of a protein associated with U5 small nuclear ribonucleoprotein". Nature . 342 (6251): 819–21. Bibcode :1989Natur.342..819A . doi :10.1038/342819a0 . PMID 2532307 . S2CID 977768 . Umen JG, Guthrie C (Aug 1995). "Prp16p, Slu7p, and Prp8p interact with the 3' splice site in two distinct stages during the second catalytic step of pre-mRNA splicing" . RNA . 1 (6): 584–97. PMC 1369303 PMID 7489518 . Goliath R, Shugart Y, Janssens P, Weissenbach J, Beighton P, Ramasar R, Greenberg J (Oct 1995). "Fine localization of the locus for autosomal dominant retinitis pigmentosa on chromosome 17p" . American Journal of Human Genetics . 57 (4): 962–5. PMC 1801525 PMID 7573060 . Greenberg J, Goliath R, Beighton P, Ramesar R (Jun 1994). "A new locus for autosomal dominant retinitis pigmentosa on the short arm of chromosome 17". Human Molecular Genetics . 3 (6): 915–8. doi :10.1093/hmg/3.6.915 . PMID 7951236 . Maruyama K, Sugano S (Jan 1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene . 138 (1–2): 171–4. doi :10.1016/0378-1119(94)90802-8 . PMID 8125298 . Kojis TL, Heinzmann C, Flodman P, Ngo JT, Sparkes RS, Spence MA, Bateman JB, Heckenlively JR (Feb 1996). "Map refinement of locus RP13 to human chromosome 17p13.3 in a second family with autosomal dominant retinitis pigmentosa" . American Journal of Human Genetics . 58 (2): 347–55. PMC 1914553 PMID 8571961 . Reyes JL, Kois P, Konforti BB, Konarska MM (Mar 1996). "The canonical GU dinucleotide at the 5' splice site is recognized by p220 of the U5 snRNP within the spliceosome" . RNA . 2 (3): 213–25. PMC 1369364 PMID 8608445 . Hinz M, Moore MJ, Bindereif A (Aug 1996). "Domain analysis of human U5 RNA. Cap trimethylation, protein binding, and spliceosome assembly" . The Journal of Biological Chemistry . 271 (31): 19001–7. doi :10.1074/jbc.271.31.19001 PMID 8702566 . Chiara MD, Palandjian L, Feld Kramer R, Reed R (Aug 1997). "Evidence that U5 snRNP recognizes the 3' splice site for catalytic step II in mammals" . The EMBO Journal . 16 (15): 4746–59. doi :10.1093/emboj/16.15.4746 . PMC 1170101 PMID 9303319 . Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (Oct 1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene . 200 (1–2): 149–56. doi :10.1016/S0378-1119(97)00411-3 . PMID 9373149 . Achsel T, Ahrens K, Brahms H, Teigelkamp S, Lührmann R (Nov 1998). "The human U5-220kD protein (hPrp8) forms a stable RNA-free complex with several U5-specific proteins, including an RNA unwindase, a homologue of ribosomal elongation factor EF-2, and a novel WD-40 protein" . Molecular and Cellular Biology . 18 (11): 6756–66. doi :10.1128/mcb.18.11.6756 . PMC 109259 PMID 9774689 . Reyes JL, Gustafson EH, Luo HR, Moore MJ, Konarska MM (Feb 1999). "The C-terminal region of hPrp8 interacts with the conserved GU dinucleotide at the 5' splice site" . RNA . 5 (2): 167–79. doi :10.1017/S1355838299981785 . PMC 1369749 PMID 10024169 . Makarov EM, Makarova OV, Achsel T, Lührmann R (May 2000). "The human homologue of the yeast splicing factor prp6p contains multiple TPR elements and is stably associated with the U5 snRNP via protein-protein interactions". Journal of Molecular Biology . 298 (4): 567–75. doi :10.1006/jmbi.2000.3685 . PMID 10788320 . Le Hir H, Moore MJ, Maquat LE (May 2000). "Pre-mRNA splicing alters mRNP composition: evidence for stable association of proteins at exon-exon junctions" . Genes & Development . 14 (9): 1098–108. PMC 316578 PMID 10809668 . McHale JC, McKie AB, Tarttelin EE, Inglehearn CF (2000). "Expression map of human chromosome region 17p13.3, spanning the RP13 dominant retinitis pigmentosa locus, the Miller-Dieker lissencephaly syndrome (MDLS) region, and a putative tumour suppressor locus". Cytogenetics and Cell Genetics . 88 (3–4): 225–9. doi :10.1159/000015556 . PMID 10828595 . S2CID 46632974 .
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