PMM1

PMM1
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	2FUC, 2FUE
Identifiers
Aliases	PMM1 , Sec53, phosphomannomutase 1, PMMH-22, PMM 1
External IDs	OMIM: 601786 MGI: 1353418 HomoloGene: 90898 GeneCards: PMM1
Gene location (Human)
Chr.	Chromosome 22 (human)
End	41,589,871 bp
Gene location (Mouse)
Chr.	Chromosome 15 (mouse)
End	81,845,131 bp
RNA expression pattern
	Top expressed in
	body of stomach; ; right lobe of liver; ; nucleus accumbens; ; right adrenal gland; ; right lung; ; left adrenal gland; ; cingulate gyrus; ; putamen; ; prefrontal cortex; ; caudate nucleus;
	Top expressed in
	morula; ; superior frontal gyrus; ; cerebellar cortex; ; lateral hypothalamus; ; lateral geniculate nucleus; ; hippocampus proper; ; entorhinal cortex; ; medial dorsal nucleus; ; mammillary body; ; medial vestibular nucleus;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	phosphomannomutase activity ; isomerase activity ; protein binding ; metal ion binding ;
Cellular component	cytoplasm ; neuronal cell body ; cytosol ;
Biological process	mannose metabolic process ; protein N-linked glycosylation ; protein targeting to ER ; GDP-mannose biosynthetic process ; cellular response to leukemia inhibitory factor ;
	Sources:Amigo / QuickGO
Orthologs
	5372
	29858
	ENSG00000100417
	ENSMUSG00000022474
	Q92871
	O35621
	NM_002676
	NM_001282040 ; NM_001282041 ; NM_013872
	NP_002667
	NP_001268969 ; NP_001268970 ; NP_038900
	Wikidata
View/Edit Human	View/Edit Mouse

Last updated December 03, 2023

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]

Related Research Articles

A congenital disorder of glycosylation is one of several rare inborn errors of metabolism in which glycosylation of a variety of tissue proteins and/or lipids is deficient or defective. Congenital disorders of glycosylation are sometimes known as CDG syndromes. They often cause serious, sometimes fatal, malfunction of several different organ systems in affected infants. The most common sub-type is PMM2-CDG where the genetic defect leads to the loss of phosphomannomutase 2 (PMM2), the enzyme responsible for the conversion of mannose-6-phosphate into mannose-1-phosphate.

In enzymology, a dolichol kinase is an enzyme that catalyzes the chemical reaction

Phosphomannomutase 2 is an enzyme that in humans is encoded by the PMM2 gene.

Hsc70-interacting protein also known as suppression of tumorigenicity 13 (ST13) is a protein that in humans is encoded by the ST13 gene.

Beta-crystallin B1 is a protein that in humans is encoded by the CRYBB1 gene. Variants in CRYBB1 are associated with autosomal dominant congenital cataract.

Phosphoserine phosphatase is an enzyme that in humans is encoded by the PSPH gene.

Alpha-1,2-mannosyltransferase ALG9 is an enzyme that in humans is encoded by the ALG9 gene.

Cdc42 effector protein 1 is a protein that in humans is encoded by the CDC42EP1 gene.

Probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase is an enzyme that in humans is encoded by the ALG8 gene.

Dolichol-phosphate mannosyltransferase is an enzyme that in humans is encoded by the DPM1 gene.

Mannose-P-dolichol utilization defect 1 protein is a protein that in humans is encoded by the MPDU1 gene.

Dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichyl-alpha-1,6-mannosyltransferase is an enzyme that in humans is encoded by the ALG12 gene.

Polymerase delta-interacting protein 3 is an enzyme that in humans is encoded by the POLDIP3 gene.

Glycosyltransferase-like protein LARGE1 is an enzyme that in humans is encoded by the LARGE gene.

Probable tubulin polyglutamylase TTLL1 is an enzyme that in humans is encoded by the TTLL1 gene.

Dolichyl-P-Man:Man(5)GlcNAc(2)-PP-dolichyl mannosyltransferase is an enzyme that, in humans, is encoded by the ALG3 gene.

Rab9 effector protein with Kelch motifs also known as p40 is a protein that in humans is encoded by the RABEPK gene.

Chitobiosyldiphosphodolichol beta-mannosyltransferase is an enzyme that is encoded by ALG1 whose structure and function has been conserved from lower to higher organisms.

dolichyl-phosphate mannosyltransferase polypeptide 3, also known as DPM3, is a human gene.

Dolichol phosphate-mannose biosynthesis regulatory protein is a protein that in humans is encoded by the DPM2 gene.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000100417 - Ensembl, May 2017
1 2 3 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.
1 2 "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.

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.

This article on a gene on human chromosome 22 is a stub. You can help Wikipedia by expanding it.

This page is based on this Wikipedia article
Text is available under the CC BY-SA 4.0 license; additional terms may apply.
Images, videos and audio are available under their respective licenses.

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000100417 - Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000022474 - Ensembl, May 2017

[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.

[pmid9070917-5] 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.

[pmid9271215-6] 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.

[entrez-7] 1 2 "Entrez Gene: PMM1 phosphomannomutase 1".

[test2-8] 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.

[1]

[2]

[3]

[4]

[5]

[6]

[7]

[8]

v t e Isomerase: mutases (EC 5.4)
5.4.1 Acyl Groups	Lysolecithin acylmutase Precorrin-8X methylmutase
5.4.2 Phosphomutases	Phosphoglycerate mutase Bisphosphoglycerate mutase Phosphoglucomutase Phosphomannomutase PMM1 PMM2 Phosphoenolpyruvate mutase
5.4.99 Other groups	Methylmalonyl-CoA mutase Lanosterol synthase Lupeol synthase

PMM1

Related Research Articles

References

Further reading