세린단백질가수분해효소 HTRA1은 인간 에서 HTRA1 [5] [6] 유전자에 의해 암호화되는 효소 이다.HTRA1 단백질은 4가지 단백질 도메인으로 구성되어 있습니다. 이들은 아미노 말단에서 카르복실 말단, 인슐린 유사 성장인자 결합 도메인 , 카잘 도메인, 트립신 유사 펩티다아제 도메인 및 PDZ 도메인이다.
이 유전자는 세린단백질가수분해효소의 트립신 계열의 일원을 암호화한다. 이 단백질은 IGF 결합 단백질을 분해하여 인슐린 유사 성장인자(IGFs)의 가용성을 조절하기 위해 제안된 분비 효소이다. 그것은 또한 세포 [6] 성장의 조절제가 될 것으로 제안되어 왔다.
이 유전자의 돌연변이는 뇌혈관 질환의 유전적 형태인 CARASIL 의 발달에 책임이 있다.
레퍼런스 외부 링크
추가 정보 Bradley, D T; Zipfel, P F; Hughes, A E (2011). "Complement in age-related macular degeneration: a focus on function" . Eye . 25 (6): 683–693. doi :10.1038/eye.2011.37 . PMC 3178140 . PMID 21394116 . Zurawa-Janicka D, Narkiewicz J, Lipińska B (2007). "[Characterization of the HtrA family of proteins]". Postepy Biochem . 53 (1): 27–36. PMID 17718385 . Andersson B, Wentland MA, Ricafrente JY, et al. (1996). "A "double adaptor" method for improved shotgun library construction". Anal. Biochem . 236 (1): 107–13. doi :10.1006/abio.1996.0138 . PMID 8619474 . Yu W, Andersson B, Worley KC, et al. (1997). "Large-scale concatenation cDNA sequencing" . Genome Res . 7 (4): 353–8. doi :10.1101/gr.7.4.353 . PMC 139146 . PMID 9110174 . Zumbrunn J, Trueb B (1998). "Localization of the gene for a serine protease with IGF-binding domain (PRSS11) to human chromosome 10q25.3-q26.2". Genomics . 45 (2): 461–2. doi :10.1006/geno.1997.4953 . PMID 9344681 . Hu SI, Carozza M, Klein M, et al. (1999). "Human HtrA, an evolutionarily conserved serine protease identified as a differentially expressed gene product in osteoarthritic cartilage" . J. Biol. Chem . 273 (51): 34406–12. doi :10.1074/jbc.273.51.34406 . PMID 9852107 . Baldi A, De Luca A, Morini M, et al. (2002). "The HtrA1 serine protease is down-regulated during human melanoma progression and represses growth of metastatic melanoma cells" . Oncogene . 21 (43): 6684–8. doi :10.1038/sj.onc.1205911 . PMID 12242667 . S2CID 9021435 . 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 . Nie GY, Hampton A, Li Y, et al. (2003). "Identification and cloning of two isoforms of human high-temperature requirement factor A3 (HtrA3), characterization of its genomic structure and comparison of its tissue distribution with HtrA1 and HtrA2" . Biochem. J . 371 (Pt 1): 39–48. doi :10.1042/BJ20021569 . PMC 1223265 . PMID 12513693 . De Luca A, De Falco M, Severino A, et al. (2003). "Distribution of the serine protease HtrA1 in normal human tissues" . J. Histochem. Cytochem . 51 (10): 1279–84. doi :10.1177/002215540305101004 . PMID 14500695 . 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 . Chien J, Staub J, Hu SI, et al. (2004). "A candidate tumor suppressor HtrA1 is downregulated in ovarian cancer" . Oncogene . 23 (8): 1636–44. doi :10.1038/sj.onc.1207271 . PMID 14716297 . Oka C, Tsujimoto R, Kajikawa M, et al. (2004). "HtrA1 serine protease inhibits signaling mediated by Tgfbeta family proteins" . Development . 131 (5): 1041–53. doi :10.1242/dev.00999 . PMID 14973287 . Colland F, Jacq X, Trouplin V, et al. (2004). "Functional proteomics mapping of a human signaling pathway" . Genome Res . 14 (7): 1324–32. doi :10.1101/gr.2334104 . PMC 442148 . PMID 15231748 . Grau S, Baldi A, Bussani R, et al. (2005). "Implications of the serine protease HtrA1 in amyloid precursor protein processing" . Proc. Natl. Acad. Sci. U.S.A . 102 (17): 6021–6. doi :10.1073/pnas.0501823102 . PMC 1087941 . PMID 15855271 . Ozturk A, Desai PP, Minster RL, et al. (2005). "Three SNPs in the GSTO1, GSTO2 and PRSS11 genes on chromosome 10 are not associated with age-at-onset of Alzheimer's disease". Neurobiol. Aging . 26 (8): 1161–5. doi :10.1016/j.neurobiolaging.2004.11.001 . PMID 15917099 . S2CID 10878355 . Grau S, Richards PJ, Kerr B, et al. (2006). "The role of human HtrA1 in arthritic disease" . J. Biol. Chem . 281 (10): 6124–9. doi :10.1074/jbc.M500361200 . PMID 16377621 . Bowden MA, Di Nezza-Cossens LA, Jobling T, et al. (2006). "Serine proteases HTRA1 and HTRA3 are down-regulated with increasing grades of human endometrial cancer". Gynecol. Oncol . 103 (1): 253–60. doi :10.1016/j.ygyno.2006.03.006 . PMID 16650464 . Chien J, Aletti G, Baldi A, et al. (2006). "Serine protease HtrA1 modulates chemotherapy-induced cytotoxicity" . J. Clin. Invest . 116 (7): 1994–2004. doi :10.1172/JCI27698 . PMC 1474818 . PMID 16767218 . Dewan A, Liu M, Hartman S, et al. (2006). "HTRA1 promoter polymorphism in wet age-related macular degeneration". Science . 314 (5801): 989–92. doi :10.1126/science.1133807 . PMID 17053108 . S2CID 85725181 .