X연계망막염 색소성 GTPase 레귤레이터 상호작용 단백질 1 은 인간에서 RPGRIP1 유전자 에 의해 인코딩되는 담도 전이 구역 의 단백질 이다.[5] [6] RPGRIP1은 N-terminus 의 코일 도메인 , 두 개의 C2 도메인 , 그리고 C-terminal RPGR 상호 작용 도메인(RID)을 포함하는 멀티 도메인 단백질이다. 유전자의 결함은 레버 선천성 아마우시스 (LCA) 증후군과[7] 녹내장 을 유발한다.[8]
상호작용 RPGRIP1은 망막염 색소성 GTPase 조절기 와 상호작용 하는 것으로 나타났다.[9] RPGRIP1은 RPGR-상호작용 도메인(RID)을 통해 RPGR과 상호 작용하며, 이 도메인은 C2 도메인 아키텍처로 접히고 다음 세 위치에서 RPGR과 상호 작용한다. RPGR의 큰 루프, 소수성 상호작용 현장에서 그리고 RID의 N단자 영역을 통해 상호작용하는 RID의 β 가닥.[10]
참조 ^ a b c GRCh38: 앙상블 릴리스 89: ENSG00000092200 - 앙상블 , 2017년 5월^ a b c GRCm38: 앙상블 릴리스 89: ENSMUSG000057132 - 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 .^ Boylan JP, Wright AF (September 2000). "Identification of a novel protein interacting with RPGR" . Human Molecular Genetics . 9 (14): 2085–93. doi :10.1093/hmg/9.14.2085 PMID 10958647 . ^ "Entrez Gene: RPGRIP1 retinitis pigmentosa GTPase regulator interacting protein 1" .^ Dryja TP, Adams SM, Grimsby JL, McGee TL, Hong DH, Li T, Andréasson S, Berson EL (May 2001). "Null RPGRIP1 alleles in patients with Leber congenital amaurosis" . American Journal of Human Genetics . 68 (5): 1295–8. doi :10.1086/320113 . PMC 1226111 PMID 11283794 . ^ Fernández-Martínez L, Letteboer S, Mardin CY, Weisschuh N, Gramer E, Weber BH, Rautenstrauss B, Ferreira PA, Kruse FE, Reis A, Roepman R, Pasutto F (April 2011). "Evidence for RPGRIP1 gene as risk factor for primary open angle glaucoma" . European Journal of Human Genetics . 19 (4): 445–51. doi :10.1038/ejhg.2010.217 . PMC 3060327 PMID 21224891 . ^ Roepman R, Bernoud-Hubac N, Schick DE, Maugeri A, Berger W, Ropers HH, Cremers FP, Ferreira PA (September 2000). "The retinitis pigmentosa GTPase regulator (RPGR) interacts with novel transport-like proteins in the outer segments of rod photoreceptors" . Human Molecular Genetics . 9 (14): 2095–105. doi :10.1093/hmg/9.14.2095 PMID 10958648 . ^ Remans K, Bürger M, Vetter IR, Wittinghofer A (July 2014). "C2 domains as protein-protein interaction modules in the ciliary transition zone" . Cell Reports . 8 (1): 1–9. doi :10.1016/j.celrep.2014.05.049 PMID 24981858 .
추가 읽기 Hong DH, Yue G, Adamian M, Li T (April 2001). "Retinitis pigmentosa GTPase regulator (RPGRr)-interacting protein is stably associated with the photoreceptor ciliary axoneme and anchors RPGR to the connecting cilium" . The Journal of Biological Chemistry . 276 (15): 12091–9. doi :10.1074/jbc.M009351200 PMID 11104772 . Gerber S, Perrault I, Hanein S, Barbet F, Ducroq D, Ghazi I, Martin-Coignard D, Leowski C, Homfray T, Dufier JL, Munnich A, Kaplan J, Rozet JM (August 2001). "Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis" . European Journal of Human Genetics . 9 (8): 561–71. doi :10.1038/sj.ejhg.5200689 PMID 11528500 . Mavlyutov TA, Zhao H, Ferreira PA (August 2002). "Species-specific subcellular localization of RPGR and RPGRIP isoforms: implications for the phenotypic variability of congenital retinopathies among species" . Human Molecular Genetics . 11 (16): 1899–907. doi :10.1093/hmg/11.16.1899 PMID 12140192 . Hameed A, Abid A, Aziz A, Ismail M, Mehdi SQ, Khaliq S (August 2003). "Evidence of RPGRIP1 gene mutations associated with recessive cone-rod dystrophy" . Journal of Medical Genetics . 40 (8): 616–9. doi :10.1136/jmg.40.8.616 . PMC 1735563 PMID 12920076 . Shu X, Fry AM, Tulloch B, Manson FD, Crabb JW, Khanna H, Faragher AJ, Lennon A, He S, Trojan P, Giessl A, Wolfrum U, Vervoort R, Swaroop A, Wright AF (May 2005). "RPGR ORF15 isoform co-localizes with RPGRIP1 at centrioles and basal bodies and interacts with nucleophosmin" . Human Molecular Genetics . 14 (9): 1183–97. doi :10.1093/hmg/ddi129 PMID 15772089 . Lu X, Guruju M, Oswald J, Ferreira PA (May 2005). "Limited proteolysis differentially modulates the stability and subcellular localization of domains of RPGRIP1 that are distinctly affected by mutations in Leber's congenital amaurosis" . Human Molecular Genetics . 14 (10): 1327–40. doi :10.1093/hmg/ddi143 . PMC 1769350 PMID 15800011 . Lu X, Ferreira PA (June 2005). "Identification of novel murine- and human-specific RPGRIP1 splice variants with distinct expression profiles and subcellular localization" . Investigative Ophthalmology & Visual Science . 46 (6): 1882–90. doi :10.1167/iovs.04-1286 . PMC 1769349 PMID 15914599 . Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, Berriz GF, Gibbons FD, Dreze M, Ayivi-Guedehoussou N, Klitgord N, Simon C, Boxem M, Milstein S, Rosenberg J, Goldberg DS, Zhang LV, Wong SL, Franklin G, Li S, Albala JS, Lim J, Fraughton C, Llamosas E, Cevik S, Bex C, Lamesch P, Sikorski RS, Vandenhaute J, Zoghbi HY, Smolyar A, Bosak S, Sequerra R, Doucette-Stamm L, Cusick ME, Hill DE, Roth FP, Vidal M (October 2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature . 437 (7062): 1173–8. Bibcode :2005Natur.437.1173R . doi :10.1038/nature04209 . PMID 16189514 . S2CID 4427026 . Booij JC, Florijn RJ, ten Brink JB, Loves W, Meire F, van Schooneveld MJ, de Jong PT, Bergen AA (November 2005). "Identification of mutations in the AIPL1, CRB1, GUCY2D, RPE65, and RPGRIP1 genes in patients with juvenile retinitis pigmentosa" . Journal of Medical Genetics . 42 (11): e67. doi :10.1136/jmg.2005.035121 . PMC 1735944 PMID 16272259 . Roepman R, Letteboer SJ, Arts HH, van Beersum SE, Lu X, Krieger E, Ferreira PA, Cremers FP (December 2005). "Interaction of nephrocystin-4 and RPGRIP1 is disrupted by nephronophthisis or Leber congenital amaurosis-associated mutations" . Proceedings of the National Academy of Sciences of the United States of America . 102 (51): 18520–5. Bibcode :2005PNAS..10218520R . doi :10.1073/pnas.0505774102 PMC 1317916 PMID 16339905 . Jacobson SG, Cideciyan AV, Aleman TS, Sumaroka A, Schwartz SB, Roman AJ, Stone EM (May 2007). "Leber congenital amaurosis caused by an RPGRIP1 mutation shows treatment potential". Ophthalmology . 114 (5): 895–8. doi :10.1016/j.ophtha.2006.10.028 . PMID 17306875 . Arts HH, Doherty D, van Beersum SE, Parisi MA, Letteboer SJ, Gorden NT, Peters TA, Märker T, Voesenek K, Kartono A, Ozyurek H, Farin FM, Kroes HY, Wolfrum U, Brunner HG, Cremers FP, Glass IA, Knoers NV, Roepman R (July 2007). "Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome". Nature Genetics . 39 (7): 882–8. doi :10.1038/ng2069 . PMID 17558407 . S2CID 12910768 . Patil H, Guruju MR, Cho KI, Yi H, Orry A, Kim H, Ferreira PA (February 2012). "Structural and functional plasticity of subcellular tethering, targeting and processing of RPGRIP1 by RPGR isoforms" . Biology Open . 1 (2): 140–60. doi :10.1242/bio.2011489 . PMC 3507198 PMID 23213406 . 외부 링크 PDBe-KB 는 휴먼 X 연계 망막염 색소성 색소성 GTPase 레귤레이터 상호작용 단백질 1(RPGRIP1)에 대해 PDB에서 이용할 수 있는 모든 구조 정보의 개요를 제공한다.
