PMM1

From Wikipedia, the free encyclopedia

Phosphomannomutase 1

PDB rendering based on 2fuc.

Available structures: 2fuc, 2fue

Identifiers

Symbol(s)

PMM1; Sec53

External IDs

OMIM: 601786 MGI: 1353418 HomoloGene: 88452

Gene ontology
Molecular Function:	• phosphomannomutase activity • isomerase activity
Cellular Component:	• cytoplasm
Biological Process:	• metabolic process • mannose biosynthetic process

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_002676 (mRNA)
NP_002667 (protein)

NM_013872 (mRNA)
NP_038900 (protein)

Location

Chr 22: 40.3 - 40.32 Mb

Chr 15: 81.78 - 81.79 Mb

Pubmed search

[1]

[2]

Phosphomannomutase 1, also known as PMM1, is a human gene.^[1]

Phosphomannomutase catalyzes the conversion between D-mannose 6-phosphate and D-mannose 1-phosphate which is a substrate for GDP-mannose synthesis. GDP-mannose is used for synthesis of dolichol-phosphate-mannose, which is essential for N-linked glycosylation and thus the secretion of several glycoproteins as well as for the synthesis of glycosyl-phosphatidyl-inositol (GPI) anchored proteins.^[1]

[edit] References

^ ^a ^b Entrez Gene: PMM1 phosphomannomutase 1.

[edit] Further reading

Matthijs G, Schollen E, Pirard M, et al. (1997). "PMM (PMM1), the human homologue of SEC53 or yeast phosphomannomutase, is localized on chromosome 22q13.". Genomics 40 (1): 41–7. doi:10.1006/geno.1996.4536. PMID 9070917.
Wada Y, Sakamoto M (1997). "Isolation of the human phosphomannomutase gene (PMM1) and assignment to chromosome 22q13.". Genomics 39 (3): 416–7. doi:10.1006/geno.1996.4487. PMID 9119384.
Pirard M, Collet JF, Matthijs G, Van Schaftingen E (1997). "Comparison of PMM1 with the phosphomannomutases expressed in rat liver and in human cells.". FEBS Lett. 411 (2-3): 251–4. PMID 9271215.
Hansen SH, Frank SR, Casanova JE (1997). "Cloning and characterization of human phosphomannomutase, a mammalian homologue of yeast SEC53.". Glycobiology 7 (6): 829–34. PMID 9376685.
Collet JF, Stroobant V, Pirard M, et al. (1998). "A new class of phosphotransferases phosphorylated on an aspartate residue in an amino-terminal DXDX(T/V) motif.". J. Biol. Chem. 273 (23): 14107–12. PMID 9603909.
Pirard M, Achouri Y, Collet JF, et al. (1999). "Kinetic properties and tissular distribution of mammalian phosphomannomutase isozymes.". Biochem. J. 339 ( Pt 1): 201–7. PMID 10085245.
Dunham I, Shimizu N, Roe BA, et al. (1999). "The DNA sequence of human chromosome 22.". Nature 402 (6761): 489–95. doi:10.1038/990031. PMID 10591208.
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. PMID 12477932.
Jensen H, Kjaergaard S, Klie F, Moller HU (2003). "Ophthalmic manifestations of congenital disorder of glycosylation type 1a.". Ophthalmic Genet. 24 (2): 81–8. PMID 12789572.
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
Collins JE, Wright CL, Edwards CA, et al. (2005). "A genome annotation-driven approach to cloning the human ORFeome.". Genome Biol. 5 (10): R84. doi:10.1186/gb-2004-5-10-r84. PMID 15461802.
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. PMID 15489334.
Rual JF, Venkatesan K, Hao T, et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network.". Nature 437 (7062): 1173–8. doi:10.1038/nature04209. PMID 16189514.
Silvaggi NR, Zhang C, Lu Z, et al. (2006). "The X-ray crystal structures of human alpha-phosphomannomutase 1 reveal the structural basis of congenital disorder of glycosylation type 1a.". J. Biol. Chem. 281 (21): 14918–26. doi:10.1074/jbc.M601505200. PMID 16540464.
Baumbusch LO, Myhre S, Langerød A, et al. (2006). "Expression of full-length p53 and its isoform Deltap53 in breast carcinomas in relation to mutation status and clinical parameters.". Mol. Cancer 5: 47. doi:10.1186/1476-4598-5-47. PMID 17054774.
Barone R, Sturiale L, Fiumara A, et al. (2007). "Borderline mental development in a congenital disorder of glycosylation (CDG) type Ia patient with multisystemic involvement (intermediate phenotype).". J. Inherit. Metab. Dis. 30 (1): 107. doi:10.1007/s10545-006-0486-6. PMID 17186415.