HPS1
HPS1
헤르만스키-푸들락 증후군 1 단백질은 인간에게 HPS1 유전자에 의해 암호화된 단백질이다.[5][6][7]
이 유전자는 멜라노솜, 혈소판 밀도 과립, 라이소솜과 관련된 오르가넬 생물 발생에 역할을 할 수 있는 단백질을 암호화한다.인코딩된 단백질은 리소솜 관련 유기농 복합체(BLOC)-3, 블록4, 블록5의 바이오제네시스라고 불리는 3가지 단백질 복합체의 성분이다.이 유전자의 돌연변이는 헤르만스키-푸들락 증후군 유형 1과 관련이 있다.이 유전자에 대해 구별되는 ISO 양식을 인코딩하는 다중 대본 변형이 확인되었다. 이들 중 일부의 전체 길이 순서는 아직 결정되지 않았다.[7]
참조
- ^ a b c GRCh38: 앙상블 릴리스 89: ENSG00000107521 - 앙상블, 2017년 5월
- ^ a b c GRCm38: 앙상블 릴리스 89: ENSMUSG000025188 - 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.
- ^ Fukai K, Oh J, Frenk E, Almodovar C, Spritz RA (Feb 1996). "Linkage disequilibrium mapping of the gene for Hermansky–Pudlak syndrome to chromosome 10q23.1-q23.3" (PDF). Hum Mol Genet. 4 (9): 1665–9. doi:10.1093/hmg/4.9.1665. PMID 8541858.
- ^ Wildenberg SC, Oetting WS, Almodovar C, Krumwiede M, White JG, King RA (Nov 1995). "A gene causing Hermansky–Pudlak syndrome in a Puerto Rican population maps to chromosome 10q2". Am J Hum Genet. 57 (4): 755–65. PMC 1801499. PMID 7573033.
- ^ a b "Entrez Gene: HPS1 Hermansky–Pudlak syndrome 1".
외부 링크
추가 읽기
- Huizing M, Gahl WA (2003). "Disorders of vesicles of lysosomal lineage: the Hermansky–Pudlak syndromes". Curr. Mol. Med. 2 (5): 451–67. doi:10.2174/1566524023362357. PMID 12125811.
- Oh J, Bailin T, Fukai K, et al. (1996). "Positional cloning of a gene for Hermansky–Pudlak syndrome, a disorder of cytoplasmic organelles". Nat. Genet. 14 (3): 300–6. doi:10.1038/ng1196-300. PMID 8896559. S2CID 25296741.
- Bailin T, Oh J, Feng GH, et al. (1997). "Organization and nucleotide sequence of the human Hermansky–Pudlak syndrome (HPS) gene". J. Invest. Dermatol. 108 (6): 923–7. doi:10.1111/1523-1747.ep12294634. PMID 9182823.
- Oh J, Ho L, Ala-Mello S, et al. (1998). "Mutation analysis of patients with Hermansky–Pudlak syndrome: a frameshift hot spot in the HPS gene and apparent locus heterogeneity". Am. J. Hum. Genet. 62 (3): 593–8. doi:10.1086/301757. PMC 1376951. PMID 9497254.
- Wildenberg SC, Fryer JP, Gardner JM, et al. (1998). "Identification of a novel transcript produced by the gene responsible for the Hermansky–Pudlak syndrome in Puerto Rico". J. Invest. Dermatol. 110 (5): 777–81. doi:10.1046/j.1523-1747.1998.00183.x. PMID 9579545.
- Dell'Angelica EC, Aguilar RC, Wolins N, et al. (2000). "Molecular characterization of the protein encoded by the Hermansky–Pudlak syndrome type 1 gene". J. Biol. Chem. 275 (2): 1300–6. doi:10.1074/jbc.275.2.1300. PMID 10625677.
- Huizing M, Anikster Y, Gahl WA (2000). "Characterization of a partial pseudogene homologous to the Hermansky–Pudlak syndrome gene HPS-1; relevance for mutation detection". Hum. Genet. 106 (3): 370–3. doi:10.1007/s004390051053. PMID 10798370.
- Horikawa T, Araki K, Fukai K, et al. (2000). "Heterozygous HPS1 mutations in a case of Hermansky–Pudlak syndrome with giant melanosomes". Br. J. Dermatol. 143 (3): 635–40. doi:10.1111/j.1365-2133.2000.03725.x. PMID 10971344. S2CID 9586360.
- Suzuki T, Li W, Zhang Q, et al. (2002). "Hermansky–Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene". Nat. Genet. 30 (3): 321–4. doi:10.1038/ng835. PMID 11836498. S2CID 2470873.
- Hermos CR, Huizing M, Kaiser-Kupfer MI, Gahl WA (2002). "Hermansky–Pudlak syndrome type 1: gene organization, novel mutations, and clinical-molecular review of non-Puerto Rican cases". Hum. Mutat. 20 (6): 482. doi:10.1002/humu.9097. PMID 12442288. S2CID 9313514.
- 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. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Chiang PW, Oiso N, Gautam R, et al. (2003). "The Hermansky–Pudlak syndrome 1 (HPS1) and HPS4 proteins are components of two complexes, BLOC-3 and BLOC-4, involved in the biogenesis of lysosome-related organelles". J. Biol. Chem. 278 (22): 20332–7. doi:10.1074/jbc.M300090200. PMID 12663659.
- Martina JA, Moriyama K, Bonifacino JS (2003). "BLOC-3, a protein complex containing the Hermansky–Pudlak syndrome gene products HPS1 and HPS4". J. Biol. Chem. 278 (31): 29376–84. doi:10.1074/jbc.M301294200. PMID 12756248.
- Nazarian R, Falcón-Pérez JM, Dell'Angelica EC (2003). "Biogenesis of lysosome-related organelles complex 3 (BLOC-3): a complex containing the Hermansky–Pudlak syndrome (HPS) proteins HPS1 and HPS4". Proc. Natl. Acad. Sci. U.S.A. 100 (15): 8770–5. doi:10.1073/pnas.1532040100. PMC 166388. PMID 12847290.
- Kobashi Y, Yoshida K, Miyashita N, et al. (2005). "Hermansky–Pudlak syndrome with interstitial pneumonia without mutation of HSP1 gene". Intern. Med. 44 (6): 616–21. doi:10.2169/internalmedicine.44.616. PMID 16020891.
- Huizing M, Parkes JM, Helip-Wooley A, et al. (2007). "Platelet alpha granules in BLOC-2 and BLOC-3 subtypes of Hermansky–Pudlak syndrome". Platelets. 18 (2): 150–7. doi:10.1080/13576500600936039. PMID 17365864. S2CID 32161968.
