프롤릴 4-히드록실라아제 서브유닛 알파-2 는 사람 에게서 P4에 의해 코드되는 효소 이다.HA2 [5] [6] [7] 유전자
이 유전자는 두 개의 동일한 알파 서브유닛과 두 개의 베타 서브유닛으로 구성된 콜라겐 합성의 핵심 효소인 프롤릴 4-히드록실라아제 성분을 암호화합니다. 암호화된 단백질은 여러 다른 유형의 알파 서브 유닛 중 하나이며 활성 효소의 촉매 부위의 주요 부분을 제공합니다. 콜라겐 및 관련 단백질에서 프롤릴 4-히드록실라아제는 새롭게 합성된 프로콜라겐 사슬의 적절한 3차원 접힘에 필수적인 4-히드록시프롤린 의 형성을 촉매한다. 다른 Isoform 을 코드하는 대체 스플라이스된 전사 변종이 설명되었다.[7]
레퍼런스 메모들
^ a b c GRCh38: 앙상블 릴리즈 89: ENSG00000072682 - 앙상블 , 2017년 5월 ^ a b c GRCm38: 앙상블 릴리즈 89: ENSMUSG000018906 - 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 . ^ Annunen P, Helaakoski T, Myllyharju J, Veijola J, Pihlajaniemi T, Kivirikko KI (Aug 1997). "Cloning of the human prolyl 4-hydroxylase alpha subunit isoform alpha(II) and characterization of the type II enzyme tetramer. The alpha(I) and alpha(II) subunits do not form a mixed alpha(I)alpha(II)beta2 tetramer" . J Biol Chem . 272 (28): 17342–8. doi :10.1074/jbc.272.28.17342 . PMID 9211872 . ^ Frazer KA, Ueda Y, Zhu Y, Gifford VR, Garofalo MR, Mohandas N, Martin CH, Palazzolo MJ, Cheng JF, Rubin EM (Aug 1997). "Computational and biological analysis of 680 kb of DNA sequence from the human 5q31 cytokine gene cluster region" . Genome Res . 7 (5): 495–512. doi :10.1101/gr.7.5.495 . PMID 9149945 . ^ a b "Entrez Gene: P4HA2 procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide II" . 추가 정보
Helaakoski T, Annunen P, Vuori K, et al. (1995). "Cloning, baculovirus expression, and characterization of a second mouse prolyl 4-hydroxylase alpha-subunit isoform: formation of an alpha 2 beta 2 tetramer with the protein disulfide-isomerase/beta subunit" . Proc. Natl. Acad. Sci. U.S.A . 92 (10): 4427–31. Bibcode :1995PNAS...92.4427H . doi :10.1073/pnas.92.10.4427 . PMC 41957 . PMID 7753822 . Nokelainen M, Nissi R, Kukkola L, et al. (2001). "Characterization of the human and mouse genes for the alpha subunit of type II prolyl 4-hydroxylase. Identification of a previously unknown alternatively spliced exon and its expression in various tissues" . Eur. J. Biochem . 268 (20): 5300–9. doi :10.1046/j.0014-2956.2001.02464.x . PMID 11606192 . 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 . Hieta R, Kukkola L, Permi P, et al. (2003). "The peptide-substrate-binding domain of human collagen prolyl 4-hydroxylases. Backbone assignments, secondary structure, and binding of proline-rich peptides" . J. Biol. Chem . 278 (37): 34966–74. doi :10.1074/jbc.M303624200 . PMID 12824157 . Kukkola L, Hieta R, Kivirikko KI, Myllyharju J (2004). "Identification and characterization of a third human, rat, and mouse collagen prolyl 4-hydroxylase isoenzyme" . J. Biol. Chem . 278 (48): 47685–93. doi :10.1074/jbc.M306806200 . PMID 14500733 . Lehner B, Semple JI, Brown SE, et al. (2004). "Analysis of a high-throughput yeast two-hybrid system and its use to predict the function of intracellular proteins encoded within the human MHC class III region". Genomics . 83 (1): 153–67. doi :10.1016/S0888-7543(03)00235-0 . PMID 14667819 . 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 . Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes" . Genome Res . 16 (1): 55–65. doi :10.1101/gr.4039406 . PMC 1356129 . PMID 16344560 . Grimmer C, Balbus N, Lang U, et al. (2006). "Regulation of Type II Collagen Synthesis during Osteoarthritis by Prolyl-4-Hydroxylases : Possible Influence of Low Oxygen Levels" . Am. J. Pathol . 169 (2): 491–502. doi :10.2353/ajpath.2006.050738 . PMC 1698781 . PMID 16877351 . Koivunen P, Hirsilä M, Kivirikko KI, Myllyharju J (2006). "The length of peptide substrates has a marked effect on hydroxylation by the hypoxia-inducible factor prolyl 4-hydroxylases" . J. Biol. Chem . 281 (39): 28712–20. doi :10.1074/jbc.M604628200 . PMID 16885164 . Teodoro JG, Parker AE, Zhu X, Green MR (2006). "p53-mediated inhibition of angiogenesis through up-regulation of a collagen prolyl hydroxylase". Science . 313 (5789): 968–71. Bibcode :2006Sci...313..968T . doi :10.1126/science.1126391 . PMID 16917063 . S2CID 34727093 .