호모 사피엔스 종의 단백질 코드 유전자
EPS15 사용 가능한 구조 PDB Ortholog 검색: PDBe RCSB PDB ID 코드 목록 1C07 , 1EH2 , 1F8H , 1FF1 , 2IV9 , 2JXC , 4RH5 , 4RH9 , 4RHG , 4S0G , 5JP2
식별자 에일리어스 EPS15 외부 ID OMIM : 600051 MGI: 104583 HomoloGene : 128359 GeneCard : EPS15 맞춤법 종. 인간 마우스 엔트레즈 앙상블 유니프로트 RefSeq(mRNA) RefSeq(단백질) 장소(UCSC) Chr 1 : 51.35 ~51.52 Mb Chr 4: 109.14 ~109.25 Mb PubMed 검색[3] [4] 위키데이터
표피성장인자 수용체 기판 15는 EPS15 [5] 단백질 이다.
기능. 이 유전자는 EGFR 경로의 일부인 단백질을 암호화합니다. 이 단백질은 클래트린 코팅된 구덩이에 존재하며 EGF의 수용체 매개 내구증에 관여한다. 특히 이 유전자는 급성 골수성 백혈병 에서 HRX/ALL/MLL 유전자와 함께 재배열된다. 이 유전자의 대체 전사 스플라이스 변형이 관찰되었지만 완전히 [6]
모델 유기체 모델 유기체는 EPS15 기능의 연구에 사용되어 왔다.Wellcome Trust Sanger [13] [14] [15] Knocking Mouse Consortium 프로그램 의 일환으로 Eps15 라는tm1a(KOMP)Wtsi [11] [12] 조건부 녹아웃 마우스 줄이 생성되었습니다.이것 은 관심 있는 과학자들에게 질병의 동물 모델을 생성하고 배포하기 위한 높은 처리량 돌연변이 유발 프로젝트입니다.
수컷과 암컷은 표준화된 표현형 검사를 통해 [9] [16] 돌연변이 생쥐에 대해 26개의 테스트가 수행되었으며, 한 가지 유의한 이상이 관찰되었다. 즉, 동종 접합 돌연변이 생쥐의 평균 혈구 헤모글로빈 [9]
상호 작용 EPS15는 다음과 상호작용하는 것 으로 나타났습니다.
레퍼런스 ^ a b c GRCh38: 앙상블 릴리즈 89: ENSG000085832 - 앙상블 , 2017년 5월^ a b c GRCm38: 앙상블 릴리즈 89: ENSMUSG000028552 - 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 .^ Wong WT, Kraus MH, Carlomagno F, Zelano A, Druck T, Croce CM, Huebner K, Di Fiore PP (Jun 1994). "The human eps15 gene, encoding a tyrosine kinase substrate, is conserved in evolution and maps to 1p31-p32". Oncogene . 9 (6): 1591–7. PMID 8183552 . ^ "Entrez Gene: EPS15 epidermal growth factor receptor pathway substrate 15" .^ "Salmonella infection data for Eps15" . Wellcome Trust Sanger Institute.^ "Citrobacter infection data for Eps15" . Wellcome Trust Sanger Institute.^ a b c Gerdin AK (2010). "The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice". Acta Ophthalmologica . 88 (S248). doi :10.1111/j.1755-3768.2010.4142.x . S2CID 85911512 . ^ Wellcome Trust Sanger Institute의 마우스 리소스 포털.^ "International Knockout Mouse Consortium" .^ "Mouse Genome Informatics" .^ Skarnes WC, Rosen B, West AP, Koutsourakis M, Bushell W, Iyer V, Mujica AO, Thomas M, Harrow J, Cox T, Jackson D, Severin J, Biggs P, Fu J, Nefedov M, de Jong PJ, Stewart AF, Bradley A (2011). "A conditional knockout resource for the genome-wide study of mouse gene function" . Nature . 474 (7351): 337–342. doi :10.1038/nature10163 . PMC 3572410 PMID 21677750 . ^ Dolgin E (June 2011). "Mouse library set to be knockout" . Nature . 474 (7351): 262–3. doi :10.1038/474262a PMID 21677718 . ^ Collins FS, Rossant J, Wurst W (January 2007). "A mouse for all reasons" . Cell . 128 (1): 9–13. doi :10.1016/j.cell.2006.12.018 PMID 17218247 . S2CID 18872015 . ^ van der Weyden L, White JK, Adams DJ, Logan DW (2011). "The mouse genetics toolkit: revealing function and mechanism" . Genome Biol . 12 (6): 224. doi :10.1186/gb-2011-12-6-224 . PMC 3218837 PMID 21722353 . ^ Schumacher C, Knudsen BS, Ohuchi T, Di Fiore PP, Glassman RH, Hanafusa H (June 1995). "The SH3 domain of Crk binds specifically to a conserved proline-rich motif in Eps15 and Eps15R" . J. Biol. Chem . 270 (25): 15341–7. doi :10.1074/jbc.270.25.15341 PMID 7797522 . ^ Chen H, Fre S, Slepnev VI, Capua MR, Takei K, Butler MH, Di Fiore PP, De Camilli P (August 1998). "Epsin is an EH-domain-binding protein implicated in clathrin-mediated endocytosis". Nature . 394 (6695): 793–7. Bibcode :1998Natur.394..793C . doi :10.1038/29555 . PMID 9723620 . S2CID 4430975 . ^ Bean AJ, Davanger S, Chou MF, Gerhardt B, Tsujimoto S, Chang Y (May 2000). "Hrs-2 regulates receptor-mediated endocytosis via interactions with Eps15" . J. Biol. Chem . 275 (20): 15271–8. doi :10.1074/jbc.275.20.15271 PMID 10809762 . ^ Bache KG, Raiborg C, Mehlum A, Stenmark H (April 2003). "STAM and Hrs are subunits of a multivalent ubiquitin-binding complex on early endosomes" . J. Biol. Chem . 278 (14): 12513–21. doi :10.1074/jbc.M210843200 PMID 12551915 . ^ Doria M, Salcini AE, Colombo E, Parslow TG, Pelicci PG, Di Fiore PP (December 1999). "The eps15 homology (EH) domain-based interaction between eps15 and hrb connects the molecular machinery of endocytosis to that of nucleocytosolic transport" . J. Cell Biol . 147 (7): 1379–84. doi :10.1083/jcb.147.7.1379 . PMC 2174238 PMID 10613896 . ^ Nakashima S, Morinaka K, Koyama S, Ikeda M, Kishida M, Okawa K, Iwamatsu A, Kishida S, Kikuchi A (July 1999). "Small G protein Ral and its downstream molecules regulate endocytosis of EGF and insulin receptors" . EMBO J . 18 (13): 3629–42. doi :10.1093/emboj/18.13.3629 . PMC 1171441 PMID 10393179 .
추가 정보 Schumacher C, Knudsen BS, Ohuchi T, Di Fiore PP, Glassman RH, Hanafusa H (1995). "The SH3 domain of Crk binds specifically to a conserved proline-rich motif in Eps15 and Eps15R" . J. Biol. Chem . 270 (25): 15341–7. doi :10.1074/jbc.270.25.15341 PMID 7797522 . Bernard OA, Mauchauffe M, Mecucci C, Van den Berghe H, Berger R (1994). "A novel gene, AF-1p, fused to HRX in t(1;11)(p32;q23), is not related to AF-4, AF-9 nor ENL". Oncogene . 9 (4): 1039–45. PMID 8134107 . Andersson B, Wentland MA, Ricafrente JY, Liu W, Gibbs RA (1996). "A "double adaptor" method for improved shotgun library construction". Anal. Biochem . 236 (1): 107–13. doi :10.1006/abio.1996.0138 . PMID 8619474 . Benmerah A, Bégue B, Dautry-Varsat A, Cerf-Bensussan N (1996). "The ear of alpha-adaptin interacts with the COOH-terminal domain of the Eps 15 protein" . J. Biol. Chem . 271 (20): 12111–6. doi :10.1074/jbc.271.20.12111 PMID 8662627 . Matsuda M, Ota S, Tanimura R, Nakamura H, Matuoka K, Takenawa T, Nagashima K, Kurata T (1996). "Interaction between the amino-terminal SH3 domain of CRK and its natural target proteins" . J. Biol. Chem . 271 (24): 14468–72. doi :10.1074/jbc.271.24.14468 PMID 8662907 . van Delft S, Schumacher C, Hage W, Verkleij AJ, van Bergen en Henegouwen PM (1997). "Association and colocalization of Eps15 with adaptor protein-2 and clathrin" . J. Cell Biol . 136 (4): 811–21. doi :10.1083/jcb.136.4.811 . PMC 2132490 PMID 9049247 . Yu W, Andersson B, Worley KC, Muzny DM, Ding Y, Liu W, Ricafrente JY, Wentland MA, Lennon G, Gibbs RA (1997). "Large-scale concatenation cDNA sequencing" . Genome Res . 7 (4): 353–8. doi :10.1101/gr.7.4.353 . PMC 139146 PMID 9110174 . Tebar F, Confalonieri S, Carter RE, Di Fiore PP, Sorkin A (1997). "Eps15 is constitutively oligomerized due to homophilic interaction of its coiled-coil region" . J. Biol. Chem . 272 (24): 15413–8. doi :10.1074/jbc.272.24.15413 PMID 9182572 . Salcini AE, Confalonieri S, Doria M, Santolini E, Tassi E, Minenkova O, Cesareni G, Pelicci PG, Di Fiore PP (1997). "Binding specificity and in vivo targets of the EH domain, a novel protein-protein interaction module" . Genes Dev . 11 (17): 2239–49. doi :10.1101/gad.11.17.2239 . PMC 275390 PMID 9303539 . Cupers P, ter Haar E, Boll W, Kirchhausen T (1998). "Parallel dimers and anti-parallel tetramers formed by epidermal growth factor receptor pathway substrate clone 15" . J. Biol. Chem . 272 (52): 33430–4. doi :10.1074/jbc.272.52.33430 PMID 9407139 . Haffner C, Takei K, Chen H, Ringstad N, Hudson A, Butler MH, Salcini AE, Di Fiore PP, De Camilli P (1998). "Synaptojanin 1: localization on coated endocytic intermediates in nerve terminals and interaction of its 170 kDa isoform with Eps15". FEBS Lett . 419 (2–3): 175–80. doi :10.1016/S0014-5793(97)01451-8 . PMID 9428629 . S2CID 45186831 . Benmerah A, Lamaze C, Bègue B, Schmid SL, Dautry-Varsat A, Cerf-Bensussan N (1998). "AP-2/Eps15 interaction is required for receptor-mediated endocytosis" . J. Cell Biol . 140 (5): 1055–62. doi :10.1083/jcb.140.5.1055 . PMC 2132690 PMID 9490719 . de Beer T, Carter RE, Lobel-Rice KE, Sorkin A, Overduin M (1998). "Structure and Asn-Pro-Phe binding pocket of the Eps15 homology domain". Science . 281 (5381): 1357–60. Bibcode :1998Sci...281.1357D . doi :10.1126/science.281.5381.1357 . PMID 9721102 . Chen H, Fre S, Slepnev VI, Capua MR, Takei K, Butler MH, Di Fiore PP, De Camilli P (1998). "Epsin is an EH-domain-binding protein implicated in clathrin-mediated endocytosis". Nature . 394 (6695): 793–7. Bibcode :1998Natur.394..793C . doi :10.1038/29555 . PMID 9723620 . S2CID 4430975 . Lewin DA, Sheff D, Ooi CE, Whitney JA, Yamamoto E, Chicione LM, Webster P, Bonifacino JS, Mellman I (1998). "Cloning, expression, and localization of a novel gamma-adaptin-like molecule". FEBS Lett . 435 (2–3): 263–8. doi :10.1016/S0014-5793(98)01083-7 . PMID 9762922 . S2CID 83518205 . Sengar AS, Wang W, Bishay J, Cohen S, Egan SE (1999). "The EH and SH3 domain Ese proteins regulate endocytosis by linking to dynamin and Eps15" . EMBO J . 18 (5): 1159–71. doi :10.1093/emboj/18.5.1159 . PMC 1171207 PMID 10064583 . Poupon V, Bègue B, Gagnon J, Dautry-Varsat A, Cerf-Bensussan N, Benmerah A (1999). "Molecular cloning and characterization of MT-ACT48, a novel mitochondrial acyl-CoA thioesterase" . J. Biol. Chem . 274 (27): 19188–94. doi :10.1074/jbc.274.27.19188 PMID 10383425 . Nakashima S, Morinaka K, Koyama S, Ikeda M, Kishida M, Okawa K, Iwamatsu A, Kishida S, Kikuchi A (1999). "Small G protein Ral and its downstream molecules regulate endocytosis of EGF and insulin receptors" . EMBO J . 18 (13): 3629–42. doi :10.1093/emboj/18.13.3629 . PMC 1171441 PMID 10393179 . Stephens DJ, Banting G (1999). "Direct interaction of the trans-Golgi network membrane protein, TGN38, with the F-actin binding protein, neurabin" . J. Biol. Chem . 274 (42): 30080–6. doi :10.1074/jbc.274.42.30080 PMID 10514494 .
PDB 갤러리
1c07 : 인간 EPS15의 세 번째 균질도메인 구조
1eh2 : 인간 EPS15, NMR, 20개 구조의 두 번째 EPS15 균질도메인 구조
1f8h : PTGSSTNPFR과의 복합체 내 인간 EPS15의 제2호몰로지 도메인의 구조
1ff1 : PTGSSTNPFL과의 복합체 내 인간 EPS15의 제2 균질도메인 구조
1qjt : 마우스 표피 성장인자 수용체 기판 15, EPS15의 APO EH1 도메인의 용액 구조