PMM1

磷酸甘露糖变位酶1（英語：Phosphomannomutase 1）是一种由基因 PMM1 编码的酶。 磷酸甘露糖变位酶催化D-甘露糖-6-磷酸和D-甘露糖-1-磷酸之间的变位反应，这是鸟苷二磷酸甘露糖合成的前奏。鸟苷二磷酸甘露糖接下来用于多萜醇磷酸甘露糖的合成，之后参与N-糖基化。因此PMM涉及一些糖蛋白的分泌，与糖磷脂酰肌醇（GPI）锚定蛋白的生成 Matthijs G, Schollen E, Pirard M, Budarf ML, Van Schaftingen E, Cassiman JJ. PMM (PMM1), the human homologue of SEC53 or yeast phosphomannomutase, is localized on chromosome 22q13. Genomics. Jun 1997, 40 (1): 41–7. PMID 9070917. doi:10.1006/geno.1996.4536.  Pirard M, Collet JF, Matthijs G, Van Schaftingen E. Comparison of PMM1 with the phosphomannomutases expressed in rat liver and in human cells. FEBS Lett. Sep 1997, 411 (2-3): 251–4. PMID 9271215. doi:10.1016/S0014-5793(97)00704-7.  Entrez Gene: PMM1 phosphomannomutase 1.  Wada Y, Sakamoto M. Isolation of the human phosphomannomutase gene (PMM1) and assignment to chromosome 22q13.. Genomics. 1997, 39 (3): 416–7. PMID 9119384. doi:10.1006/geno.1996.4487.  Hansen SH, Frank SR, Casanova JE. Cloning and characterization of human phosphomannomutase, a mammalian homologue of yeast SEC53.. Glycobiology. 1997, 7 (6): 829–34. PMID 9376685. doi:10.1093/glycob/7.6.829.  Collet JF, Stroobant V, Pirard M; et al. A new class of phosphotransferases phosphorylated on an aspartate residue in an amino-terminal DXDX(T/V) motif.. J. Biol. Chem. 1998, 273 (23): 14107–12. PMID 9603909. doi:10.1074/jbc.273.23.14107.  引文格式1维护：显式使用等标签 (link) Pirard M, Achouri Y, Collet JF; et al. Kinetic properties and tissular distribution of mammalian phosphomannomutase isozymes.. Biochem. J. 1999, 339 (1): 201–7. PMC 1220145 . PMID 10085245. doi:10.1042/0264-6021:3390201.  引文格式1维护：显式使用等标签 (link) Dunham I, Shimizu N, Roe BA; et al. The DNA sequence of human chromosome 22.. Nature. 1999, 402 (6761): 489–95. PMID 10591208. doi:10.1038/990031.  引文格式1维护：显式使用等标签 (link) Strausberg RL, Feingold EA, Grouse LH; et al. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.. Proc. Natl. Acad. Sci. U.S.A. 2003, 99 (26): 16899–903. PMC 139241 . PMID 12477932. doi:10.1073/pnas.242603899.  引文格式1维护：显式使用等标签 (link) Jensen H, Kjaergaard S, Klie F, Moller HU. Ophthalmic manifestations of congenital disorder of glycosylation type 1a.. Ophthalmic Genet. 2003, 24 (2): 81–8. PMID 12789572. doi:10.1076/opge.24.2.81.13994.  Ota T, Suzuki Y, Nishikawa T; et al. Complete sequencing and characterization of 21,243 full-length human cDNAs.. Nat. Genet. 2004, 36 (1): 40–5. PMID 14702039. doi:10.1038/ng1285.  引文格式1维护：显式使用等标签 (link) Collins JE, Wright CL, Edwards CA; et al. A genome annotation-driven approach to cloning the human ORFeome.. Genome Biol. 2005, 5 (10): R84. PMC 545604 . PMID 15461802. doi:10.1186/gb-2004-5-10-r84.  引文格式1维护：显式使用等标签 (link) Gerhard DS, Wagner L, Feingold EA; et al. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).. Genome Res. 2004, 14 (10B): 2121–7. PMC 528928 . PMID 15489334. doi:10.1101/gr.2596504.  引文格式1维护：显式使用等标签 (link) Rual JF, Venkatesan K, Hao T; et al. Towards a proteome-scale map of the human protein-protein interaction network.. Nature. 2005, 437 (7062): 1173–8. PMID 16189514. doi:10.1038/nature04209.  引文格式1维护：显式使用等标签 (link) Silvaggi NR, Zhang C, Lu Z; et al. The X-ray crystal structures of human alpha-phosphomannomutase 1 reveal the structural basis of congenital disorder of glycosylation type 1a.. J. Biol. Chem. 2006, 281 (21): 14918–26. PMID 16540464. doi:10.1074/jbc.M601505200.  引文格式1维护：显式使用等标签 (link) Baumbusch LO, Myhre S, Langerød A; et al. Expression of full-length p53 and its isoform Deltap53 in breast carcinomas in relation to mutation status and clinical parameters.. Mol. Cancer. 2006, 5: 47. PMC 1636663 . PMID 17054774. doi:10.1186/1476-4598-5-47.  引文格式1维护：显式使用等标签 (link) Barone R, Sturiale L, Fiumara A; et al. Borderline mental development in a congenital disorder of glycosylation (CDG) type Ia patient with multisystemic involvement (intermediate phenotype).. J. Inherit. Metab. Dis. 2007, 30 (1): 107. PMID 17186415. doi:10.1007/s10545-006-0486-6.  引文格式1维护：显式使用等标签 (link)