호모 사피엔스 종의 단백질 코드 유전자
저밀도 리포단백질 수용체 어댑터 단백질 1은 LDLRAP1 [5] 유전자 에 의해 인체 내에서 암호화되는 단백질 이다.
이 유전자에 의해 암호화된 단백질은 포스포티로신 결합(PTB) 도메인을 포함하는 세포성 단백질이다. PTB 도메인은 LDL 수용체의 세포질 꼬리와 상호작용하는 것으로 밝혀졌다. 이 유전자의 돌연변이는 LDL 수용체 이상을 초래하고 상염색체 열성 고콜레스테롤혈증 을 [5]
상호 작용 LDLRAP1은 AP2B1 [6] [7] LRP2 와 [8] 것 으로 나타났습니다.
레퍼런스 ^ a b c GRCh38: 앙상블 릴리즈 89: ENSG00000157978 - 앙상블 , 2017년 5월^ a b c GRCm38: 앙상블 릴리즈 89: ENSMUSG000037295 - 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 .^ a b "Entrez Gene: LDLRAP1 low density lipoprotein receptor adaptor protein 1" .^ 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 (Oct 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 . ^ He, Guocheng; Gupta Sarita; Yi Ming; Michaely Peter; Hobbs Helen H; Cohen Jonathan C (Nov 2002). "ARH is a modular adaptor protein that interacts with the LDL receptor, clathrin, and AP-2" . J. Biol. Chem . United States. 277 (46): 44044–9. doi :10.1074/jbc.M208539200 ISSN 0021-9258 . PMID 12221107 . ^ Nagai, Masaaki; Meerloo Timo; Takeda Tetsuro; Farquhar Marilyn Gist (Dec 2003). "The adaptor protein ARH escorts megalin to and through endosomes" . Mol. Biol. Cell . United States. 14 (12): 4984–96. doi :10.1091/mbc.E03-06-0385 . ISSN 1059-1524 . PMC 284800 PMID 14528014 .
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