PMM1

PMM1
已知的结构
PDB	直系同源搜索：PDBe RCSB
PDBID列表
	2FUC、2FUE
标识符
代号	PMM1
扩展标识	OMIM：601786；MGI：1353418；HomoloGene：90898；GeneCards：PMM1；OMA：PMM1 - orthologs
基因位置（人类）
染色体	22號染色體
终止	41,589,871 bp
基因位置（小鼠）
染色体	小鼠15号染色体
终止	81,845,131 bp
RNA表达模式
	Top expressed in
	mucosa of transverse colon; ; body of stomach; ; right lobe of liver; ; right frontal lobe; ; right adrenal gland; ; right lung; ; left adrenal gland; ; right adrenal cortex;
	Top expressed in
	neural layer of retina; ; dentate gyrus of hippocampal formation granule cell; ; cerebellar cortex; ; hippocampus proper;
	查阅更多表达数据
	查阅更多表达数据
基因本體
分子功能	phosphomannomutase activity; isomerase activity; 血浆蛋白结合; 金屬離子結合;
細胞組分	細胞質; soma; 细胞质基质;
生物學過程	mannose metabolic process; protein N-linked glycosylation; protein targeting to ER; GDP-mannose biosynthetic process; cellular response to leukemia inhibitory factor;
	来源：Amigo / QuickGO
直系同源
	5372
	29858
	ENSG00000100417
	ENSMUSG00000022474
	Q92871
	O35621
	NM_002676
	NM_001282040; NM_001282041; NM_013872
	NP_002667
	NP_001268969; NP_001268970; NP_038900
	维基数据
檢視/編輯人類	檢視/編輯小鼠

磷酸甘露糖变位酶1（英語：Phosphomannomutase 1）化学式为：C₁₃₁₈H₂₀₆₂O₃₉₅N₃₆₄S₉^[5]，是一种由基因 PMM1 编码的酶^[6]^[7]^[8]。

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^[8]

参考文献

^ ^1.0 ^1.1 ^1.2 GRCh38: Ensembl release 89: ENSG00000100417 – Ensembl, May 2017
^ ^2.0 ^2.1 ^2.2 GRCm38: Ensembl release 89: ENSMUSG00000022474 – Ensembl, 2017年5月
^ 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.
^ Expasy - ProtParam. web.expasy.org. [2025-07-11].
^ 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.
^ ^8.0 ^8.1 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.

[refGRCh38Ensembl-1] 1.0 ^1.1 ^1.2 GRCh38: Ensembl release 89: ENSG00000100417 – Ensembl, May 2017

[refGRCm38Ensembl-2] 2.0 ^2.1 ^2.2 GRCm38: Ensembl release 89: ENSMUSG00000022474 – Ensembl, 2017年5月

[3] Human PubMed Reference:. National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] Mouse PubMed Reference:. National Center for Biotechnology Information, U.S. National Library of Medicine.

[5] Expasy - ProtParam. web.expasy.org. [2025-07-11].

[pmid9070917-6] 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.

[pmid9271215-7] 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-8] 8.0 ^8.1 Entrez Gene: PMM1 phosphomannomutase 1.

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查论编異構酶：变位酶类（EC 5.4）
5.4.1：酰基变位酶	溶血卵磷脂酰基变位酶
5.4.2：磷酸变位酶	磷酸甘油酸变位酶二磷酸甘油酸变位酶磷酸葡糖变位酶磷酸甘露糖变位酶 PMM1 PMM2 磷酸烯醇式丙酮酸变位酶
5.4.99：其他基团	甲基丙二酸单酰辅酶A变位酶羊毛固醇合酶
EC 1.1/2/3/4/5/6/7/8/9/10/11/12/13/14/15/16/17/18/19/20/21/22 · 2.1/2/3/4/5/6/7(2.7.10/11-12)/8/9 · 3.1/2/3/4(3.4.21/22/23/24)/5/6/7/8/9/10/11/12/13 · 4.1/2/3/4/5/6 · 5.1/2/3/4/5/99 · 6.1-3（英语：Template:Ligases CO CS and CN）/4/5-6