From Wikipedia, the free encyclopedia
Protein-coding gene in the species Homo sapiens
Phosphomannomutase 1 is an
enzyme that in humans is encoded by the PMM1
gene .
[5]
[6]
[7]
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
Glycosylphosphatidylinositol (GPI) anchored proteins.
[7]
This enzyme has been extracted from the
venom of the
wasp species
Polistes major major .
[8]
References
^
a
b
c
GRCh38: Ensembl release 89: ENSG00000100417 –
Ensembl , May 2017
^
a
b
c
GRCm38: Ensembl release 89: ENSMUSG00000022474 –
Ensembl , May 2017
^
"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 .
^ Matthijs G, Schollen E, Pirard M, Budarf ML, Van Schaftingen E, Cassiman JJ (Jun 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 .
^ Pirard M, Collet JF, Matthijs G, Van Schaftingen E (Sep 1997).
"Comparison of PMM1 with the phosphomannomutases expressed in rat liver and in human cells" . FEBS Lett . 411 (2–3): 251–4.
doi :
10.1016/S0014-5793(97)00704-7 .
PMID
9271215 .
^
a
b
"Entrez Gene: PMM1 phosphomannomutase 1" .
^ ČeŘovský V (2007). "Identification of three novel peptides isolated from the venom of the neotropical social wasp Polistes major major". Journal of Peptide Science . 13 (7): 445–450.
doi :
10.1002/psc.860 .
PMID
17559065 .
S2CID
41958134 .
Further reading
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 .
Hansen SH, Frank SR, Casanova JE (1997).
"Cloning and characterization of human phosphomannomutase, a mammalian homologue of yeast SEC53" . Glycobiology . 7 (6): 829–34.
doi :
10.1093/glycob/7.6.829 .
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.
doi :
10.1074/jbc.273.23.14107 .
PMID
9603909 .
Pirard M, Achouri Y, Collet JF, et al. (1999).
"Kinetic properties and tissular distribution of mammalian phosphomannomutase isozymes" . Biochem. J . 339 (1): 201–7.
doi :
10.1042/0264-6021:3390201 .
PMC
1220145 .
PMID
10085245 .
Dunham I, Shimizu N, Roe BA, et al. (1999).
"The DNA sequence of human chromosome 22" . Nature . 402 (6761): 489–95.
Bibcode :
1999Natur.402..489D .
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.
Bibcode :
2002PNAS...9916899M .
doi :
10.1073/pnas.242603899 .
PMC
139241 .
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.
doi :
10.1076/opge.24.2.81.13994 .
PMID
12789572 .
S2CID
29341185 .
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 .
PMC
545604 .
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 .
PMC
528928 .
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.
Bibcode :
2005Natur.437.1173R .
doi :
10.1038/nature04209 .
PMID
16189514 .
S2CID
4427026 .
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 .
PMC
1636663 .
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 .
S2CID
12016939 .