치토비오실디프인스포돌리콜 베타만노실전달효소는 ALG1에[5] 의해 인코딩되는 효소로, 구조와 기능이 하위 유기체에서 상위 유기체로 보존되어 있다.[6][7]
함수
지질연계 올리고당류의 생합성은 진핵생물들 사이에서 보존성이 높고 순서에 따라 14개의 글리코실 전이가 촉매로 작용한다.Alg1 mannosyl transferase I(MT I)는 이 과정에서 첫 번째 mannosylation step을 촉매한다.[6]임상적으로 인간에게 ALG1이 결핍되면 글리코실화의 선천성 질환인 ALG1-CDG가 발생한다.[8]
참조
- ^ a b c GRCh38: 앙상블 릴리스 89: ENSG000033011 - 앙상블, 2017년 5월
- ^ a b c GRCm38: 앙상블 릴리스 89: ENSMUSG000039427 - 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.
- ^ Couto JR, Huffaker TC, Robbins PW (1984). "Cloning and expression in Escherichia coli of a yeast mannosyltransferase from the asparagine-linked glycosylation pathway". J. Biol. Chem. 259 (1): 378–82. doi:10.1016/S0021-9258(17)43670-2. PMID 6368538.
- ^ a b "Entrez Gene: ALG1 asparagine-linked glycosylation 1 homolog (S. cerevisiae, beta-1,4-mannosyltransferase)".
- ^ Takahashi T, Honda R, Nishikawa Y (Mar 2000). "Cloning of the human cDNA which can complement the defect of the yeast mannosyltransferase I-deficient mutant alg 1". Glycobiology. 10 (3): 321–7. doi:10.1093/glycob/10.3.321. PMID 10704531.
- ^ "# 608540 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik; CDG1K". Johns Hopkins University. Retrieved 2019-05-01.
추가 읽기
- Couto JR, Huffaker TC, Robbins PW (January 1984). "Cloning and expression in Escherichia coli of a yeast mannosyltransferase from the asparagine-linked glycosylation pathway". J. Biol. Chem. 259 (1): 378–82. doi:10.1016/S0021-9258(17)43670-2. PMID 6368538.
- Gao XD, Nishikawa A, Dean N (June 2004). "Physical interactions between the Alg1, Alg2, and Alg11 mannosyltransferases of the endoplasmic reticulum". Glycobiology. 14 (6): 559–70. doi:10.1093/glycob/cwh072. PMID 15044395.
- Otsuki T, Ota T, Nishikawa T, et al. (2007). "Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries". DNA Res. 12 (2): 117–26. doi:10.1093/dnares/12.2.117. PMID 16303743.
- 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.
- Kranz C, Denecke J, Lehle L, et al. (2004). "Congenital Disorder of Glycosylation Type Ik (CDG-Ik): A Defect of Mannosyltransferase I". Am. J. Hum. Genet. 74 (3): 545–51. doi:10.1086/382493. PMC 1182267. PMID 14973782.
- Schwarz M, Thiel C, Lübbehusen J, et al. (2004). "Deficiency of GDP-Man:GlcNAc2-PP-Dolichol Mannosyltransferase Causes Congenital Disorder of Glycosylation Type Ik". Am. J. Hum. Genet. 74 (3): 472–81. doi:10.1086/382492. PMC 1182261. PMID 14973778.
- Grubenmann CE, Frank CG, Hülsmeier AJ, et al. (2004). "Deficiency of the first mannosylation step in the N-glycosylation pathway causes congenital disorder of glycosylation type Ik". Hum. Mol. Genet. 13 (5): 535–42. doi:10.1093/hmg/ddh050. PMID 14709599.
- Clark HF, Gurney AL, Abaya E, et al. (2003). "The Secreted Protein Discovery Initiative (SPDI), a Large-Scale Effort to Identify Novel Human Secreted and Transmembrane Proteins: A Bioinformatics Assessment". Genome Res. 13 (10): 2265–70. doi:10.1101/gr.1293003. PMC 403697. PMID 12975309.
- 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.
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