PMM1

Phosphomannomutase 1
磷酸甘露糖变位酶1
Phosphomannomutase 1; 磷酸甘露糖变位酶1
	PDB rendering based on 2fuc.
有效结构
PDB	直系同源检索：PDBe, RCSB
PDB查询代码列表
	2FUC, 2FUE
标识
代号	PMM1; Sec53
扩展标识	遗传学：601786 鼠基因：1353418 同源基因：90898 GeneCards: PMM1 Gene
EC編號	5.4.2.8
基因本体论描述
分子功能	· phosphomannomutase activity; · metal ion binding;
细胞成分	· cytosol; · neuronal cell body;
生物过程	· mannose metabolic process; · dolichol-linked oligosaccharide biosynthetic process; · GDP-mannose biosynthetic process; · protein N-linked glycosylation via asparagine; · mannose biosynthetic process; · post-translational protein modification; · cellular protein metabolic process;
	Sources: Amigo / QuickGO
RNA表达模式
	更多表达数据
直系同源体
物种	人类
Entrez	5372
Ensembl	ENSG00000100417
UniProt	Q92871
mRNA序列	NM_002676
蛋白序列	NP_002667
基因位置	Chr 22:; 41.97 – 41.99 Mb
PubMed查询	[1]
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磷酸甘露糖变位酶1（英語：Phosphomannomutase 1）是一种由基因 PMM1 编码的酶^[1]^[2]^[3]。

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^[3]

参考文献

^ 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.
^ ^3.0 ^3.1 Entrez Gene: PMM1 phosphomannomutase 1.

延伸阅读

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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.

[pmid9070917-1] 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.

[pmid9271215-2] 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-3] 3.0 ^3.1 Entrez Gene: PMM1 phosphomannomutase 1.

[1]

[2]

[3]