호모 사피엔스 종의 단백질 코드 유전자
단백질 카푸치노 상동체 는 인간의 CNO [5] [6] [7] 단백질 이다.
이 무전자 유전자는 멜라노솜, 혈소판 고밀도 과립, 리소솜과 관련된 유기체 생물 형성에 역할을 할 수 있는 단백질을 암호화합니다. 마우스의 유사한 단백질은 리소좀 관련 오르가넬 복합체 1(BLOC-1) 의 생물형성이라고 불리는 단백질 복합체의 구성 요소이며 헤르만스키-푸들락 증후군의 모델이다. 암호화된 단백질은 세포 내 [7]
상호 작용 CNO(유전자)는 BLOCK1S2 [8] PLDN 과 [8] 것 으로 나타났습니다.
레퍼런스 ^ a b c GRCh38: 앙상블 릴리즈 89: ENSG00000186222 - 앙상블 , 2017년 5월^ a b c GRCm38: 앙상블 릴리즈 89: ENSMUSG000060708 - 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 .^ Ciciotte SL, Gwynn B, Moriyama K, Huizing M, Gahl WA, Bonifacino JS, Peters LL (May 2003). "Cappuccino, a mouse model of Hermansky-Pudlak syndrome, encodes a novel protein that is part of the pallidin-muted complex (BLOC-1)" . Blood . 101 (11): 4402–7. doi :10.1182/blood-2003-01-0020 . PMID 12576321 . ^ Gwynn B, Ciciotte SL, Hunter SJ, Washburn LL, Smith RS, Andersen SG, Swank RT, Dell'Angelica EC, Bonifacino JS, Eicher EM, Peters LL (Dec 2000). "Defects in the cappuccino (cno) gene on mouse chromosome 5 and human 4p cause Hermansky-Pudlak syndrome by an AP-3-independent mechanism". Blood . 96 (13): 4227–35. doi :10.1182/blood.V96.13.4227 . PMID 11110696 . ^ a b "Entrez Gene: CNO cappuccino homolog (mouse)" .^ a b Starcevic, Marta; Dell'Angelica Esteban C (Jul 2004). "Identification of snapin and three novel proteins (BLOS1, BLOS2, and BLOS3/reduced pigmentation) as subunits of biogenesis of lysosome-related organelles complex-1 (BLOC-1)" . J. Biol. Chem . 279 (27): 28393–401. doi :10.1074/jbc.M402513200 ISSN 0021-9258 . PMID 15102850 .
외부 링크 추가 정보 Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)" . Genome Res . 14 (10B): 2121–7. doi :10.1101/gr.2596504 . PMC 528928 PMID 15489334 . Starcevic M, Dell'Angelica EC (2004). "Identification of snapin and three novel proteins (BLOS1, BLOS2, and BLOS3/reduced pigmentation) as subunits of biogenesis of lysosome-related organelles complex-1 (BLOC-1)" . J. Biol. Chem . 279 (27): 28393–401. doi :10.1074/jbc.M402513200 PMID 15102850 . Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs" . Nat. Genet . 36 (1): 40–5. doi :10.1038/ng1285 PMID 14702039 . Li W, Zhang Q, Oiso N, et al. (2003). "Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1)" . Nat. Genet . 35 (1): 84–9. doi :10.1038/ng1229 . PMC 2860733 PMID 12923531 . Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences" . Proc. Natl. Acad. Sci. U.S.A . 99 (26): 16899–903. Bibcode :2002PNAS...9916899M . doi :10.1073/pnas.242603899 PMC 139241 PMID 12477932 . Moriyama K, Bonifacino JS (2003). "Pallidin is a component of a multi-protein complex involved in the biogenesis of lysosome-related organelles" . Traffic . 3 (9): 666–77. doi :10.1034/j.1600-0854.2002.30908.x PMID 12191018 . S2CID 29888859 .
