{ "uniprot_canonical_ac": "O15305-1", "uniprot_ac": "O15305", "uniprot_id": "PMM2_HUMAN", "mass": { "chemical_mass": 28082.0, "monoisotopic_mass": 28082.0 }, "refseq": { "ac": "NP_000294", "name": "phosphomannomutase 2", "summary": "The protein encoded by this gene catalyzes the isomerization of mannose 6-phosphate to mannose 1-phosphate, which is a precursor to GDP-mannose necessary for the synthesis of dolichol-P-oligosaccharides. Mutations in this gene have been shown to cause defects in glycoprotein biosynthesis, which manifests as carbohydrate-deficient glycoprotein syndrome type I. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000294" }, "gene_names": [ { "name": "PMM2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O15305", "id": "O15305" }, { "name": "CDG1; CDG1a; CDGS; PMI; PMI1; PMM 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000294", "id": "NP_000294" }, { "name": "PMM2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000294", "id": "NP_000294" } ], "protein_names": [ { "name": "Phosphomannomutase 2", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O15305" }, { "name": "5.4.2.8", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15305" }, { "name": "PMM 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15305" }, { "name": "phosphomannomutase 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000294", "id": "NP_000294" }, { "name": "phosphomannose isomerase 1; mannose-6-phosphate isomerase", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000294", "id": "NP_000294" } ], "function": [ { "annotation": "A functional platform for the selection of pathogenic variants of PMM2 amenable to rescue via the use of pharmacological chaperones.", "evidence": [ { "database": "RefSeq", "id": "NP_000294", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000294" }, { "database": "PubMed", "id": "35789514", "url": "https://glygen.org/publication/PubMed/35789514" } ] }, { "annotation": "Cysteine Pathogenic Variants of PMM2 Are Sensitive to Environmental Stress with Loss of Structural Stability. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000294", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000294" }, { "database": "PubMed", "id": "36743691", "url": "https://glygen.org/publication/PubMed/36743691" } ] }, { "annotation": "Involved in the synthesis of the GDP-mannose and dolichol-phosphate-mannose required for a number of critical mannosyl transfer reactions.", "evidence": [ { "database": "UniProtKB", "id": "O15305", "url": "https://www.uniprot.org/uniprot/O15305#function" }, { "database": "UniProtKB", "id": "Q92871", "url": "https://www.uniprot.org/uniprot/Q92871#function" }, { "database": "UniProtKB", "id": "H3BPH4", "url": "https://www.uniprot.org/uniprot/H3BPH4#function" }, { "database": "UniProtKB", "id": "RU361118", "url": "https://www.uniprot.org/uniprot/RU361118#function" }, { "database": "UniProtKB", "id": "H3BR08", "url": "https://www.uniprot.org/uniprot/H3BR08#function" }, { "database": "UniProtKB", "id": "H3BV55", "url": "https://www.uniprot.org/uniprot/H3BV55#function" }, { "database": "UniProtKB", "id": "A0A804HKA7", "url": "https://www.uniprot.org/uniprot/A0A804HKA7#function" }, { "database": "UniProtKB", "id": "H3BNY9", "url": "https://www.uniprot.org/uniprot/H3BNY9#function" }, { "database": "UniProtKB", "id": "H3BRM0", "url": "https://www.uniprot.org/uniprot/H3BRM0#function" }, { "database": "UniProtKB", "id": "H3BT06", "url": "https://www.uniprot.org/uniprot/H3BT06#function" }, { "database": "UniProtKB", "id": "H3BM92", "url": "https://www.uniprot.org/uniprot/H3BM92#function" }, { "database": "UniProtKB", "id": "H3BV34", "url": "https://www.uniprot.org/uniprot/H3BV34#function" } ] }, { "annotation": "Phosphomannomutase 2 (PMM2) variants leading to hyperinsulinism-polycystic kidney disease are associated with early-onset inflammatory bowel disease and gastric antral foveolar hyperplasia.", "evidence": [ { "database": "RefSeq", "id": "NP_000294", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000294" }, { "database": "PubMed", "id": "36773065", "url": "https://glygen.org/publication/PubMed/36773065" } ] }, { "annotation": "The protein encoded by this gene catalyzes the isomerization of mannose 6-phosphate to mannose 1-phosphate, which is a precursor to GDP-mannose necessary for the synthesis of dolichol-P-oligosaccharides. Mutations in this gene have been shown to cause defects in glycoprotein biosynthesis, which manifests as carbohydrate-deficient glycoprotein syndrome type I. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_000294", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000294" } ] }, { "annotation": "Untangling adaptive functioning of PMM2-CDG across age and its impact on parental stress: a cross-sectional study. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000294", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000294" }, { "database": "PubMed", "id": "38129426", "url": "https://glygen.org/publication/PubMed/38129426" } ] } ], "disease": [ { "disease_id": "DOID:0050570", "recommended_name": { "id": "DOID:0050570", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050570", "name": "congenital disorder of glycosylation type I", "description": "A congenital disorder of glycosylation characterized by under-glycosylated serum glycoproteins." }, "synonyms": [ { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "PMM2-congenital disorder of glycosylation", "description": "The most frequent form of congenital disorder of N-glycosylation and is characterized by cerebellar dysfunction, abnormal fat distribution, inverted nipples, strabismus and hypotonia. 3 forms of PMM2-CDG can be distinguished: the infantile multisystem type, late-infantile and childhood ataxia-intellectual disability type (3-10 yrs old), and the adult stable disability type. Infants usually develop ataxia, psychomotor delay and extraneurological manifestations including failure to thrive, enteropathy, hepatic dysfunction, coagulation abnormalities and cardiac and renal involvement. The phenotype is however highly variable and ranges from infants who die in the first year of life to mildly involved adults." }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "CDG 1A", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "CDG syndrome type Ia", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "CDG-IA", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "CDG1A", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "PMM2-CDG", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": 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"MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "PMM2-CDG (CDG-Ia)", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "carbohydrate-deficient glycoprotein syndrome type 1A", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "carbohydrate-deficient glycoprotein syndrome type 1A (formerly)", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "carbohydrate-deficient glycoprotein syndrome, type Ia", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "carbohydrate-deficient glycoprotein syndrome, type Ia, formerly", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "congenital disorder of glycosylation, type Ia", "description": "" }, { "id": "MIM:212065", "resource": "MIM", "url": "https://www.omim.org/entry/212065", "name": "Congenital disorder of glycosylation 1A", "description": "Congenital disorder of glycosylation 1A" } ], "evidence": [ { "id": "212065", "database": "MIM", "url": "https://www.omim.org/entry/212065" }, { "id": "5373", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/5373#disease" } ] }, { "disease_id": "DOID:0080552", "recommended_name": { "id": "DOID:0080552", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080552", "name": "congenital disorder of glycosylation Ia", "description": "A congenital disorder of glycosylation I that is characterized by a severe encephalopathy with axial hypotonia, abnormal eye movement, pronounced psychomotor retardation, peripheral neuropathy, cerebellar hypoplasia, and retinitis 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ataxia-intellectual disability type (3-10 yrs old), and the adult stable disability type. Infants usually develop ataxia, psychomotor delay and extraneurological manifestations including failure to thrive, enteropathy, hepatic dysfunction, coagulation abnormalities and cardiac and renal involvement. The phenotype is however highly variable and ranges from infants who die in the first year of life to mildly involved adults." }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "CDG 1A", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "CDG syndrome type Ia", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "CDG-IA", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "CDG1A", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "PMM2-CDG", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": 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Computationally mapped isoform of Phosphomannomutase OS=Homo sapiens OX=9606 GN=PMM2 PE=1 SV=1 CANONICAL=O15305-1" }, "locus": { "chromosome": "16", "start_pos": 8802097, "end_pos": 8797883, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000565896.5", "url": "https://www.ensembl.org/id/ENST00000565896.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000456024.1", "url": "https://www.ensembl.org/id/ENSP00000456024.1" } ] } }, { "isoform_ac": "H3BRM0-1", "url": "", "sequence": { "sequence": "MAAPGPALCLFDVDGTLTAPRQKITKEMDDFLQKLRQKIKIGVVGGSDFEKVQEQLGNDENIRQKFVADLRKEFAGKGLTFSIGGQISFDVFPDGWDKRYCLRHVENDGYKTIYFFGDKTMPGGNDHEIFTDPRTMGYSVTAPEDTRRICELLFS", "length": 155, "header": "tr|H3BRM0-1|H3BRM0_HUMAN Computationally mapped isoform of Phosphomannomutase OS=Homo sapiens OX=9606 GN=PMM2 PE=1 SV=1 CANONICAL=O15305-1" }, "locus": { "chromosome": "16", "start_pos": 8847822, "end_pos": 8797883, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000569958.5", "url": "https://www.ensembl.org/id/ENST00000569958.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000456302.1", "url": "https://www.ensembl.org/id/ENSP00000456302.1" } ] } }, { "isoform_ac": "H3BT06-1", "url": "", "sequence": { "sequence": "MAAPGPALCLFDVDGTLTAPRQKITKEMDDFLQKLRQKIKIGVVGGSDFEKVQEQLGNDERKYKTKVCSRSTERVCWKRPHVFHRRPDQL", "length": 90, "header": "tr|H3BT06-1|H3BT06_HUMAN Computationally mapped isoform of Phosphomannomutase OS=Homo sapiens OX=9606 GN=PMM2 PE=1 SV=1 CANONICAL=O15305-1" }, "locus": { "chromosome": "16", "start_pos": 8813006, "end_pos": 8797883, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000570076.5", "url": "https://www.ensembl.org/id/ENST00000570076.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000456961.1", "url": "https://www.ensembl.org/id/ENSP00000456961.1" } ] } }, { "isoform_ac": "H3BV34-1", "url": "", "sequence": { "sequence": "MAAPGPALCLFDVDGTLTAPRQKITKEMDDFLQKLRQKIKIGVVGGSDFEKVQEQLGNDGVLSLNSEMGC", "length": 70, "header": "tr|H3BV34-1|H3BV34_HUMAN Computationally mapped isoform of Phosphomannomutase OS=Homo sapiens OX=9606 GN=PMM2 PE=1 SV=1 CANONICAL=O15305-1" }, "locus": { "chromosome": "16", "start_pos": 8811110, "end_pos": 8797883, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000565221.5", "url": "https://www.ensembl.org/id/ENST00000565221.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000457932.1", "url": "https://www.ensembl.org/id/ENSP00000457932.1" } ] } }, { "isoform_ac": "H3BV55-1", "url": "", "sequence": { "sequence": "MDDFLQKLRQKIKIGVVGGSDFEKVQEQLGNDVVEKYDYVFPENGLVAYKDGKLLCRQNIQSHLGEALIQDLINYCLSYIAKIKLPKKRGTFIEFRNGMLNVSPIGRSCSQEERIEFYELDKKENIRQKFVADLRKEFAGKGLTFSIGGQISFDVFPDGWDKRYCLRHVENDGYKTIYFFGDKTMPGGNDHEIFTDPRTMGYSVTAPEDTRRICELLFS", "length": 219, "header": "tr|H3BV55-1|PMM2_HUMAN Computationally mapped isoform of Phosphomannomutase 2 OS=Homo sapiens OX=9606 GN=PMM2 PE=1 SV=1 CANONICAL=O15305-1" }, "locus": { "chromosome": "16", "start_pos": 8847822, "end_pos": 8801814, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000566983.5", "url": "https://www.ensembl.org/id/ENST00000566983.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000457956.1", "url": "https://www.ensembl.org/id/ENSP00000457956.1" } ] } }, { "isoform_ac": "O15305-1", "url": "", "sequence": { "sequence": "MAAPGPALCLFDVDGTLTAPRQKITKEMDDFLQKLRQKIKIGVVGGSDFEKVQEQLGNDVVEKYDYVFPENGLVAYKDGKLLCRQNIQSHLGEALIQDLINYCLSYIAKIKLPKKRGTFIEFRNGMLNVSPIGRSCSQEERIEFYELDKKENIRQKFVADLRKEFAGKGLTFSIGGQISFDVFPDGWDKRYCLRHVENDGYKTIYFFGDKTMPGGNDHEIFTDPRTMGYSVTAPEDTRRICELLFS", "length": 246, "header": "sp|O15305-1|PMM2_HUMAN Isoform 1 of Phosphomannomutase 2 OS=Homo sapiens OX=9606 GN=PMM2 PE=1 SV=1 CANONICAL=O15305-1" }, "locus": { "chromosome": "16", "start_pos": 8847822, "end_pos": 8797883, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": 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Genet. Metab.", "date": "1999", "authors": "Matthijs G, Schollen E, Heykants L, Gr\u00fcnewald S", "evidence": [ { "database": "UniProtKB", "id": "O15305", "url": "https://www.uniprot.org/uniprot/O15305" } ], "reference": [ { "type": "PubMed", "id": "10527672", "url": "https://glygen.org/publication/PubMed/10527672" } ] }, { "title": "Characterization of the 415G>A (E139K) PMM2 mutation in carbohydrate-deficient glycoprotein syndrome type Ia disrupting a splicing enhancer resulting in exon 5 skipping.", "journal": "Human mutation", "date": "1999", "authors": "Vuillaumier-Barrot S, Barnier A, Cuer M, Durand G, Grandchamp B, Seta N", "evidence": [ { "database": "UniProtKB", "id": "O15305", "url": "https://www.uniprot.org/uniprot/O15305" } ], "reference": [ { "type": "PubMed", "id": "10571956", "url": "https://glygen.org/publication/PubMed/10571956" } ] }, { "title": "Carbohydrate-deficient glycoprotein syndrome type 1A: expression and characterisation of wild type and mutant PMM2 in E. coli.", "journal": "European journal of human genetics : EJHG", "date": "1999", "authors": "Kjaergaard S, Skovby F, Schwartz M", "evidence": [ { "database": "UniProtKB", "id": "O15305", "url": "https://www.uniprot.org/uniprot/O15305" }, { "database": "Reactome", "id": "R-HSA-4043911", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4043911" } ], "reference": [ { "type": "PubMed", "id": "10602363", "url": "https://glygen.org/publication/PubMed/10602363" } ] }, { "title": "Genotypes and phenotypes of patients in the UK with carbohydrate-deficient glycoprotein syndrome type 1.", "journal": "Journal of inherited metabolic disease", "date": "2000", "authors": "Imtiaz F, Worthington V, Champion M, Beesley C, Charlwood J, Clayton P, Keir G, Mian N, Winchester B", "evidence": [ { "database": "UniProtKB", "id": "O15305", "url": "https://www.uniprot.org/uniprot/O15305" } ], "reference": [ { "type": "PubMed", "id": "10801058", "url": "https://glygen.org/publication/PubMed/10801058" } ] }, { "title": "Identification of four novel PMM2 mutations in congenital disorders of glycosylation (CDG) Ia French patients.", "journal": "Journal of medical genetics", "date": "2000", "authors": "Vuillaumier-Barrot S, Hetet G, Barnier A, Dupre T, Cuer M, de Lonlay P, Cormier-Daire V, Durand G, Grandchamp B, Seta N", "evidence": [ { "database": "Reactome", "id": "R-HSA-4043911", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4043911" } ], "reference": [ { "type": "PubMed", "id": "10922383", "url": "https://glygen.org/publication/PubMed/10922383" } ] }, { "title": "Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG-Ib).", "journal": "Human mutation", "date": "2000", "authors": "Schollen E, Dorland L, de Koning TJ, Van Diggelen OP, Huijmans JG, Marquardt T, Babovic-Vuksanovic D, Patterson M, Imtiaz F, Winchester B, Adamowicz M, Pronicka E, Freeze H, Matthijs G", "evidence": [ { "database": "Reactome", "id": "R-HSA-446205", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-446205" } ], "reference": [ { "type": "PubMed", "id": "10980531", "url": "https://glygen.org/publication/PubMed/10980531" } ] }, { "title": "Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia).", "journal": "Human mutation", "date": "2000", "authors": "Matthijs G, Schollen E, Bjursell C, Erlandson A, Freeze H, Imtiaz F, Kjaergaard S, Martinsson T, Schwartz M, Seta N, Vuillaumier-Barrot S, Westphal V, Winchester B", "evidence": [ { "database": "UniProtKB", "id": "O15305", "url": "https://www.uniprot.org/uniprot/O15305" } ], "reference": [ { "type": "PubMed", "id": "11058895", "url": "https://glygen.org/publication/PubMed/11058895" } ] }, { "title": "PMM2 mutation spectrum, including 10 novel mutations, in a large CDG type 1A family material with a focus on Scandinavian families.", "journal": "Human mutation", "date": "2000", "authors": "Bjursell C, Erlandson A, Nordling M, Nilsson S, Wahlstrom J, Stibler H, Kristiansson B, Martinsson T", "evidence": [ { "database": "UniProtKB", "id": "O15305", "url": "https://www.uniprot.org/uniprot/O15305" } ], "reference": [ { "type": "PubMed", "id": "11058896", "url": "https://glygen.org/publication/PubMed/11058896" } ] }, { "title": "Cloning, expression and characterization of the pig liver GDP-mannose pyrophosphorylase. Evidence that GDP-mannose and GDP-Glc pyrophosphorylases are different proteins.", "journal": "European journal of biochemistry", "date": "2000", "authors": "Ning B, Elbein AD", "evidence": [ { "database": "Reactome", "id": "R-HSA-446205", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-446205" } ], "reference": [ { "type": "PubMed", "id": "11082198", "url": "https://glygen.org/publication/PubMed/11082198" } ] }, { "title": "High residual activity of PMM2 in patients' fibroblasts: possible pitfall in the diagnosis of CDG-Ia (phosphomannomutase deficiency).", "journal": "American journal of human genetics", "date": "2001", "authors": "Grunewald S, Schollen E, Van Schaftingen E, Jaeken J, Matthijs G", "evidence": [ { "database": "Reactome", "id": "R-HSA-4043911", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4043911" } ], "reference": [ { "type": "PubMed", "id": "11156536", "url": "https://glygen.org/publication/PubMed/11156536" } ] }, { "title": "Functional analysis of novel mutations in a congenital disorder of glycosylation Ia patient with mixed Asian ancestry.", "journal": "Molecular genetics and metabolism", "date": "2001", "authors": "Westphal V, Enns GM, McCracken MF, Freeze HH", "evidence": [ { "database": "UniProtKB", "id": "O15305", "url": "https://www.uniprot.org/uniprot/O15305" } ], "reference": [ { "type": "PubMed", "id": "11350185", "url": "https://glygen.org/publication/PubMed/11350185" } ] }, { "title": "DHPLC analysis as a platform for molecular diagnosis of congenital disorders of glycosylation (CDG).", "journal": "European journal of human genetics : EJHG", "date": "2002", "authors": "Schollen E, Martens K, Geuzens E, Matthijs G", "evidence": [ { "database": "UniProtKB", "id": "O15305", "url": "https://www.uniprot.org/uniprot/O15305" } ], "reference": [ { "type": "PubMed", "id": "12357336", "url": "https://glygen.org/publication/PubMed/12357336" } ] }, { "title": "A new insight into PMM2 mutations in the French population.", "journal": "Human mutation", "date": "2005", "authors": "Le Bizec C, Vuillaumier-Barrot S, Barnier A, Dupre T, Durand G, Seta N", "evidence": [ { "database": "UniProtKB", "id": "O15305", "url": "https://www.uniprot.org/uniprot/O15305" } ], "reference": [ { "type": "PubMed", "id": "15844218", "url": "https://glygen.org/publication/PubMed/15844218" } ] }, { "title": "The X-ray crystal structures of human alpha-phosphomannomutase 1 reveal the structural basis of congenital disorder of glycosylation type 1a.", "journal": "J. Biol. Chem.", "date": "2006", "authors": "Silvaggi NR, Zhang C, Lu Z, Dai J, Dunaway-Mariano D, Allen KN", "evidence": [ { "database": "UniProtKB", "id": "O15305", "url": "https://www.uniprot.org/uniprot/O15305" } ], "reference": [ { "type": "PubMed", "id": "16540464", "url": "https://glygen.org/publication/PubMed/16540464" } ] }, { "title": "Characterization of two unusual truncating PMM2 mutations in two CDG-Ia patients.", "journal": "Molecular genetics and metabolism", "date": "2007", "authors": "Schollen E, Keldermans L, Foulquier F, Briones P, Chabas A, Sanchez-Valverde F, Adamowicz M, Pronicka E, Wevers R, Matthijs G", "evidence": [ { "database": "UniProtKB", "id": "O15305", "url": "https://www.uniprot.org/uniprot/O15305" } ], "reference": [ { "type": "PubMed", "id": "17307006", "url": "https://glygen.org/publication/PubMed/17307006" } ] }, { "title": "Ensemble refinement of protein crystal structures: validation and application.", "journal": "Structure", "date": "2007", "authors": "Levin Elena J, Kondrashov Dmitry A, Wesenberg Gary E, Phillips George N", "evidence": [ { "database": "UniProtKB", "id": "O15305", "url": "https://www.uniprot.org/uniprot/O15305" } ], "reference": [ { "type": "PubMed", "id": "17850744", "url": "https://glygen.org/publication/PubMed/17850744" } ] }, { "title": "Comparative large scale characterization of plant versus mammal proteins reveals similar and idiosyncratic N-alpha-acetylation features.", "journal": "Molecular & cellular proteomics : MCP", "date": "2012", "authors": "Bienvenut WV, Sumpton D, Martinez A, Lilla S, Espagne C, Meinnel T, Giglione C", "evidence": [ { "database": "UniProtKB", "id": "O15305", "url": "https://www.uniprot.org/uniprot/O15305" } ], "reference": [ { "type": "PubMed", "id": "22223895", "url": "https://glygen.org/publication/PubMed/22223895" } ] }, { "title": "Proteome wide purification and identification of O-GlcNAc-modified proteins using click chemistry and mass spectrometry.", "journal": "Journal of proteome research", "date": "2013", "authors": "Hahne H, Sobotzki N, Nyberg T, Helm D, Borodkin VS, van Aalten DM, Agnew B, Kuster B", "evidence": [ { "database": "O-GlcNAc Database", "id": "O15305", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O15305" } ], "reference": [ { "type": "PubMed", "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498" } ] }, { "title": "Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.", "journal": "Cell", "date": "2016", "authors": "Yang Xinping, Coulombe-Huntington Jasmin, Kang Shuli, Sheynkman Gloria M, Hao Tong, Richardson Aaron, Sun Song, Yang Fan, Shen Yun A, Murray Ryan R, Spirohn Kerstin, Begg Bridget E, Duran-Frigola Miquel, MacWilliams Andrew, Pevzner Samuel J, Zhong Quan, Trigg Shelly A, Tam Stanley, Ghamsari Lila, Sahni Nidhi, Yi Song, Rodriguez Maria D, Balcha Dawit, Tan Guihong, Costanzo Michael, Andrews Brenda, Boone Charles, Zhou Xianghong J, Salehi-Ashtiani Kourosh, Charloteaux Benoit, Chen Alyce A, Calderwood Michael A, Aloy Patrick, Roth Frederick P, Hill David E, Iakoucheva Lilia M, Xia Yu, Vidal Marc", "evidence": [ { "database": "UniProtKB", "id": "H3BV34", "url": "https://www.uniprot.org/uniprot/H3BV34" } ], "reference": [ { "type": "PubMed", "id": "26871637", "url": "https://glygen.org/publication/PubMed/26871637" } ] }, { "title": "Synthesis of a Highly Azide-Reactive and Thermosensitive Biofunctional Reagent for Efficient Enrichment and Large-Scale Identification of O-GlcNAc Proteins by Mass Spectrometry.", "journal": "Analytical chemistry", "date": "2017", "authors": "Zhang W, Liu T, Dong H, Bai H, Tian F, Shi Z, Chen M, Wang J, Qin W, Qian X", "evidence": [ { "database": "O-GlcNAc Database", "id": "O15305", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O15305" } ], "reference": [ { "type": "PubMed", "id": "28510447", "url": "https://glygen.org/publication/PubMed/28510447" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "O15305", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O15305" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "A functional platform for the selection of pathogenic variants of PMM2 amenable to rescue via the use of pharmacological chaperones.", "journal": "Human mutation", "date": "2022", "authors": "Segovia-Falquina C, Vilas A, Leal F, Del Cano-Ochoa F, Kirk EP, Ugarte M, Ramon-Maiques S, Gamez A, Perez B", "evidence": [ { "database": "RefSeq", "id": "NP_000294", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000294" } ], "reference": [ { "type": "PubMed", "id": "35789514", "url": "https://glygen.org/publication/PubMed/35789514" } ] }, { "title": "Cysteine Pathogenic Variants of PMM2 Are Sensitive to Environmental Stress with Loss of Structural Stability.", "journal": "Oxidative medicine and cellular longevity", "date": "2023", "authors": "Yu Fan, Lin Li, Sun Jingmiao, Pan Jicheng, Liao Yixin, Pan Yunfan, Bai Guannan, Ma Liangjian, Mao Jianhua, Hu Lidan", "evidence": [ { "database": "RefSeq", "id": "NP_000294", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000294" } ], "reference": [ { "type": "PubMed", "id": "36743691", "url": "https://glygen.org/publication/PubMed/36743691" } ] }, { "title": "Phosphomannomutase 2 (PMM2) variants leading to hyperinsulinism-polycystic kidney disease are associated with early-onset inflammatory bowel disease and gastric antral foveolar hyperplasia.", "journal": "Human genetics", "date": "2023-02-11", "authors": "Kiparissi Fevronia, Dastamani Antonia, Palm Liina, Azabdaftari Aline, Campos Luis, Gaynor Edward, Gr\u00fcnewald Stephanie, Uhlig Holm H, Kleta Robert, B\u00f6ckenhauer Detlef, Jones Kelsey D J", "evidence": [ { "database": "RefSeq", "id": "NP_000294", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000294" } ], "reference": [ { "type": "PubMed", "id": "36773065", "url": "https://glygen.org/publication/PubMed/36773065" } ] }, { "title": "Untangling adaptive functioning of PMM2-CDG across age and its impact on parental stress: a cross-sectional study.", "journal": "Scientific reports", "date": "2023-12-20", "authors": "Epifani Florencia, Pujol Serra Susana Mar\u00eda, Llorens Marta, Balcells Sol, Nolasco Gregorio, Bolasell Merc\u00e8, Aguilera-Albesa Sergio, Cancho Candela Ramon, Cuevas Cervera Jos\u00e9 Luis, Garc\u00eda S\u00e1nchez Ver\u00f3nica, Garcia Oscar, Miranda-Herrero Mar\u00eda Concepci\u00f3n, Moreno-Lozano Pedro J, Robles Bernab\u00e9, Rold\u00e1n Aparicio Susana, Vel\u00e1zquez Fragua Ram\u00f3n, Serrano Mercedes", "evidence": [ { "database": "RefSeq", "id": "NP_000294", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000294" } ], "reference": [ { "type": "PubMed", "id": "38129426", "url": "https://glygen.org/publication/PubMed/38129426" } ] }, { "title": "Purification and properties of guanosine diphosphate hexose pyrophosphorylase from mammalian tissues.", "journal": "The Journal of biological chemistry", "date": "1966", "authors": "Verachtert H, Rodriguez P, Bass ST, Hansen RG", "evidence": [ { "database": "Reactome", "id": "R-HSA-446205", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-446205" } ], "reference": [ { "type": "PubMed", "id": "5946626", "url": "https://glygen.org/publication/PubMed/5946626" } ] }, { "title": "Sialic acid-deficient serum and cerebrospinal fluid transferrin in a newly recognized genetic syndrome.", "journal": "Clinica chimica acta; international journal of clinical chemistry", "date": "1984", "authors": "Jaeken J, van Eijk HG, van der Heul C, Corbeel L, Eeckels R, Eggermont E", "evidence": [ { "database": "Reactome", "id": "R-HSA-4043911", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4043911" } ], "reference": [ { "type": "PubMed", "id": "6543331", "url": "https://glygen.org/publication/PubMed/6543331" } ] }, { "title": "Purification, cDNA cloning and heterologous expression of human phosphomannose isomerase.", "journal": "European journal of biochemistry", "date": "1994", "authors": "Proudfoot AE, Turcatti G, Wells TN, Payton MA, Smith DJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-446205", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-446205" } ], "reference": [ { "type": "PubMed", "id": "8307007", "url": "https://glygen.org/publication/PubMed/8307007" } ] }, { "title": "PMM (PMM1), the human homologue of SEC53 or yeast phosphomannomutase, is localized on chromosome 22q13.", "journal": "Genomics", "date": "1997", "authors": "Matthijs G, Schollen E, Pirard M, Budarf ML, Van Schaftingen E, Cassiman JJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-446205", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-446205" } ], "reference": [ { "type": "PubMed", "id": "9070917", "url": "https://glygen.org/publication/PubMed/9070917" } ] }, { "title": "Isolation of the human phosphomannomutase gene (PMM1) and assignment to chromosome 22q13.", "journal": "Genomics", "date": "1997", "authors": "Wada Y, Sakamoto M", "evidence": [ { "database": "Reactome", "id": "R-HSA-446205", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-446205" } ], "reference": [ { "type": "PubMed", "id": "9119384", "url": "https://glygen.org/publication/PubMed/9119384" } ] }, { "title": "Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome).", "journal": "Nat. Genet.", "date": "1997", "authors": "Matthijs G, Schollen E, Pardon E, Veiga-Da-Cunha M, Jaeken J, Cassiman JJ, Van Schaftingen E", "evidence": [ { "database": "UniProtKB", "id": "O15305", "url": "https://www.uniprot.org/uniprot/O15305" }, { "database": "Reactome", "id": "R-HSA-446205", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-446205" } ], "reference": [ { "type": "PubMed", "id": "9140401", "url": "https://glygen.org/publication/PubMed/9140401" } ] }, { "title": "Comparative analysis of the phosphomannomutase genes PMM1, PMM2 and PMM2psi: the sequence variation in the processed pseudogene is a reflection of the mutations found in the functional gene.", "journal": "Hum. Mol. Genet.", "date": "1998", "authors": "Schollen E, Pardon E, Heykants L, Renard J, Doggett NA, Callen DF, Cassiman JJ, Matthijs G", "evidence": [ { "database": "UniProtKB", "id": "O15305", "url": "https://www.uniprot.org/uniprot/O15305" } ], "reference": [ { "type": "PubMed", "id": "9425221", "url": "https://glygen.org/publication/PubMed/9425221" } ] }, { "title": "Lack of homozygotes for the most frequent disease allele in carbohydrate-deficient glycoprotein syndrome type 1A.", "journal": "Am. J. Hum. Genet.", "date": "1998", "authors": "Matthijs G, Schollen E, Van Schaftingen E, Cassiman JJ, Jaeken J", "evidence": [ { "database": "UniProtKB", "id": "O15305", "url": "https://www.uniprot.org/uniprot/O15305" }, { "database": "Reactome", "id": "R-HSA-4043911", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4043911" } ], "reference": [ { "type": "PubMed", "id": "9497260", "url": "https://glygen.org/publication/PubMed/9497260" } ] }, { "title": "Absence of homozygosity for predominant mutations in PMM2 in Danish patients with carbohydrate-deficient glycoprotein syndrome type 1.", "journal": "European journal of human genetics : EJHG", "date": "1998", "authors": "Kjaergaard S, Skovby F, Schwartz M", "evidence": [ { "database": "UniProtKB", "id": "O15305", "url": "https://www.uniprot.org/uniprot/O15305" } ], "reference": [ { "type": "PubMed", "id": "9781039", "url": "https://glygen.org/publication/PubMed/9781039" } ] } ], "pathway": [ { "id": "hsa:5373", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:5373", "resource": "KEGG Pathway" }, { "id": "R-HSA-4043911", "name": "Defective PMM2 causes PMM2-CDG", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4043911", "resource": "Reactome", "description": "Defective PMM2 causes PMM2-CDG" }, { "id": "R-HSA-446205", "name": "Synthesis of GDP-mannose", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-446205", "resource": "Reactome", "description": "Synthesis of GDP-mannose" } ], "orthologs": [ { "uniprot_canonical_ac": "F7F1X7-1", "protein_name": "Phosphomannomutase", "gene_name": "Pmm2", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MATLCLFDMDGTLTAPRQKITKEMDGFLQKLRQKTKIGVVGGSDFEKLQEQLGNDVVEKYDYVFPENGLVAYKDGKLLCKQNIQGHLGEAVIQDLINYCLSYIAKIKLPKKRGTFIEFRNGMLNVSPIGRSCSQEERIEFYELDKKEHIRQKFVADLRKEFAGKGLTFSIGGQISFDVFPDGWDKRYCLRHLEQAGYKTIYFFGDKTMPIFTDPRTVGYTVTAPEDTRRICEELFP", "length": 236 }, "evidence": [ { "id": "45924485", "url": "http://www.informatics.jax.org/homology/45924485", "database": "MGI" }, { "id": "O15305", "url": "https://omabrowser.org/oma/group/O15305/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "P07283-1", "protein_name": "Phosphomannomutase", "gene_name": "SEC53", "tax_id": 559292, "organism": "Saccharomyces cerevisiae S288C", "sequence": { "sequence": "MSIAEFAYKEKPETLVLFDVDGTLTPARLTVSEEVRKTLAKLRNKCCIGFVGGSDLSKQLEQLGPNVLDEFDYSFSENGLTAYRLGKELASQSFINWLGEEKYNKLAVFILRYLSEIDLPKRRGTFLEFRNGMINVSPIGRNASTEERNEFERYDKEHQIRAKFVEALKKEFPDYGLTFSIGGQISFDVFPAGWDKTYCLQHVEKDGFKEIHFFGDKTMVGGNDYEIFVDERTIGHSVQSPDDTVKILTELFNL", "length": 254 }, "evidence": [ { "id": "O15305", "url": "https://omabrowser.org/oma/group/O15305/", "database": "OMA" } ], "common_name": "Yeast" }, { "uniprot_canonical_ac": "Q9VTZ6-1", "protein_name": "Phosphomannomutase", "gene_name": "Pmm2", "tax_id": 7227, "organism": "Drosophila melanogaster", "sequence": { "sequence": "MTTAALKRDEILLLFDVDGTLTMPRSVVTPEFEEFFYSRVKPRATIGIVGGSDLEKMFEQLNGRKILNEFDFIFPENGLVQIEGGKEVGKQNIIMHLGEETVKRFINFVLRYLSELDVPIKRGTFIEFRNGMMNVCPIGRQCTREERNMFAEYDIEHKVREKMIKDLKQEFADVDLTYSIGGQISFDVFPHGWDKTYCLRHIEAHYKFKEIHFFGDKTEPGGNDYEIYSDPRTISHRVYTPKDTQRILTEILEL", "length": 254 }, "evidence": [ { "id": "O15305", "url": "https://omabrowser.org/oma/group/O15305/", "database": "OMA" } ], "common_name": "Fruit fly" }, { "uniprot_canonical_ac": "Q9Z2M7-1", "protein_name": "Phosphomannomutase 2", "gene_name": "Pmm2", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MATLCLFDMDGTLTAPRQKITEEMDGFLQKLRQKTKIGVVGGSDFEKLQEQLGNDVVEKYDYVFPENGLVAYKDGKLLCKQNIQGHLGEDVIQDLINYCLSYIANIKLPKKRGTFIEFRNGMLNVSPIGRSCSQEERIEFYELDKKEHIRQKFVADLRKEFAGKGLTFSIGGQISIDVFPEGWDKRYCLRHLEHAGYKTIYFFGDKTMPGGNDHEIFTDPRTVGYTVTAPEDTRRICEGLFP", "length": 242 }, "evidence": [ { "id": "45924485", "url": "http://www.informatics.jax.org/homology/45924485", "database": "MGI" }, { "id": "O15305", "url": "https://omabrowser.org/oma/group/O15305/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 4, "go_terms": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "O15305", "url": "https://www.uniprot.org/uniprot/O15305" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "O15305", "url": "https://www.uniprot.org/uniprot/O15305" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "O15305", "url": "https://www.uniprot.org/uniprot/O15305" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "O15305", "url": "https://www.uniprot.org/uniprot/O15305" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 2, "go_terms": [ { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "O15305", "url": "https://www.uniprot.org/uniprot/O15305" } ], "pmid": "" }, { "name": "phosphomannomutase activity", "id": "GO:0004615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004615", "evidence": [ { "database": "UniProtKB", "id": "O15305", "url": "https://www.uniprot.org/uniprot/O15305" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 4, "go_terms": [ { "name": "GDP-mannose biosynthetic process", "id": "GO:0009298", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009298", "evidence": [ { "database": "UniProtKB", "id": "O15305", "url": "https://www.uniprot.org/uniprot/O15305" } ], "pmid": "" }, { "name": "protein glycosylation", "id": "GO:0006486", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006486", "evidence": [ { "database": "UniProtKB", "id": "O15305", "url": "https://www.uniprot.org/uniprot/O15305" } ], "pmid": "" }, { "name": "protein N-linked glycosylation", "id": "GO:0006487", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006487", "evidence": [ { "database": "UniProtKB", "id": "O15305", "url": "https://www.uniprot.org/uniprot/O15305" } ], "pmid": "" }, { "name": "mannose metabolic process", "id": "GO:0006013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006013", "evidence": [ { "database": "UniProtKB", "id": "O15305", "url": "https://www.uniprot.org/uniprot/O15305" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 128, "end_pos": 130, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "11140", "name": "", "equation": "alpha-D-mannose 1-phosphate = D-mannose 6-phosphate", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "F7F1X7-1", "A6HT35-1", "A0A8I6GBA9-1", "O15305-1", "Q92871-1", "O35621-1", "Q9Z2M7-1", "P07283-1", "Q54X03-1", "Q86B09-1", "Q9VTZ6-1" ], "evidence": [ { "id": "11140", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/11140" } ] }, { "id": "R-HSA-3781926", "name": "Defective PMM2 does not isomerise Man6P to Man1P", "equation": "", "summary": "Phosphomannomutase 2 (PMM2) catalyses the isomerisation of mannose 6-phosphate (Man6P) to mannose 1-phosphate (Man1P) in the cytosol of cells. Man1P is a precursor in the synthesis of GDP-mannose and dolichol-phosphate-mannose, required for critical mannosyl transfer reactions in the N-glycosylation of proteins. Mutations in the PMM2 gene are one of the causes of Jaeken syndrome, a congenital disorder of glycosylation type 1a (PMM2-CDG, previously CDG-1a) (Matthijs et al. 1997). PMM2-CDG was first described in Belgian identical twin sisters, characterised by psychomotor retardation and multiple serum glycoprotein abnormalities. Serum and CSF transferrin were found to be deficient in sialic acid (Jaeken et al. 1984). The most common mutations with no detectable activity and causing a severe phenotype are R141H, D65Y, D188G, G117R and T237R (Matthijs et al. 1997, Matthijs et al. 1998, Kjaergaard et al. 1999, Vuillaumier-Barrot et al. 2000). The R141H mutation is never observed in the homozygous state. Mutations with residual activity producing a milder, less severe phenotype include F119L, C241S, C9Y, L32R and T226S (not annotated here; Vuillaumier-Barrot et al. 2000, Grunewald et al. 2001).", "cellular_location": "cytosol", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O15305-1" ], "evidence": [ { "id": "R-HSA-3781926", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3781926" } ] }, { "id": "R-HSA-446201", "name": "PMM1,2 isomerise Man6P to Man1P", "equation": "", "summary": "Phosphomannomutases 1 and 2 (PMM1 and PMM2) catalyse the isomerisation of mannose 6-phosphate (Man6P) to mannose 1-phosphate (Man1P) in the cytosol of cells (Wada & Sakamoto 1997, Matthijs et al. 1997). Mutations in the PMM2 gene are one of the causes of Jaeken syndrome. a disease of glycosylation, type CDGIa. (Matthijs et al. 1997b).", "cellular_location": "cytosol", "input_participant_list": [ "R-ALL-532562" ], "output_participant_list": [ "R-ALL-532531" ], "enzyme_list": [ "O15305-1", "Q92871-1" ], "evidence": [ { "id": "R-HSA-446201", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-446201" } ] } ], "reaction_participants": [ { "participant_id": "R-ALL-532531", "participant_name": "Man1P [cytosol]", "crossref": [ { "id": "18205", "database": "ChEBI", "url": "" }, { "id": "C03812", "database": "COMPOUND", "url": "" }, { "id": "000004095569", "database": "ZINC", "url": "" }, { "id": "HMDB0006330", "database": "HMDB Metabolite", "url": "" }, { "id": "HMDB0006330", "database": "HMDB Metabolite", "url": "" }, { "id": "C03812", "database": "COMPOUND", "url": "" }, { "id": "18205", "database": "ChEBI", "url": "" }, { "id": "000004095569", "database": "ZINC", "url": "" }, { "id": "18205", "database": "ChEBI", "url": "" }, { "id": "C03812", "database": "COMPOUND", "url": "" }, { "id": "000004095569", "database": "ZINC", "url": "" }, { "id": "HMDB0006330", "database": "HMDB Metabolite", "url": "" }, { "id": "18205", "database": "ChEBI", "url": "" }, { "id": "C03812", "database": "COMPOUND", "url": "" }, { "id": "000004095569", "database": "ZINC", "url": "" }, { "id": "HMDB0006330", "database": "HMDB Metabolite", "url": "" }, { "id": "C03812", "database": "COMPOUND", "url": "" }, { "id": "HMDB0006330", "database": "HMDB Metabolite", "url": "" }, { "id": "000004095569", "database": "ZINC", "url": "" }, { "id": "18205", "database": "ChEBI", "url": "" }, { "id": "18205", "database": "ChEBI", "url": "" }, { "id": "C03812", "database": "COMPOUND", "url": "" }, { "id": "000004095569", "database": "ZINC", "url": "" }, { "id": "HMDB0006330", "database": "HMDB Metabolite", "url": "" }, { "id": "18205", "database": "ChEBI", "url": "" }, { "id": "C03812", "database": "COMPOUND", "url": "" }, { "id": "000004095569", "database": "ZINC", "url": "" }, { "id": "HMDB0006330", "database": "HMDB Metabolite", "url": "" } ] }, { "participant_id": "R-ALL-532562", "participant_name": "Man6P [cytosol]", "crossref": [ { "id": "17369", "database": "ChEBI", "url": "" }, { "id": "C00275", "database": "COMPOUND", "url": "" }, { "id": "17369", "database": "ChEBI", "url": "" }, { "id": "C00275", "database": "COMPOUND", "url": "" }, { "id": "17369", "database": "ChEBI", "url": "" }, { "id": "C00275", "database": "COMPOUND", "url": "" }, { "id": "17369", "database": "ChEBI", "url": "" }, { "id": "C00275", "database": "COMPOUND", "url": "" }, { "id": "17369", "database": "ChEBI", "url": "" }, { "id": "C00275", "database": "COMPOUND", "url": "" }, { "id": "C00275", "database": "COMPOUND", "url": "" }, { "id": "17369", "database": "ChEBI", "url": "" }, { "id": "C00275", "database": "COMPOUND", "url": "" }, { "id": "17369", "database": "ChEBI", "url": "" } ] } ], "reaction_enzymes": [ { "uniprot_ac": "A0A8I6GBA9", "gene_name": "LOC120093860", "activity": [ { "ec_number": "5.4.2.8", "activity": "alpha-D-mannose 1-phosphate = D-mannose 6-phosphate.", "evidence": [ { "id": "A0A8I6GBA9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A0A8I6GBA9" } ] }, { "ec_number": "5.4.2.8", "activity": "", "evidence": [ { "id": "A0A8I6GBA9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A0A8I6GBA9" } ] } ] }, { "uniprot_ac": "A6HT35", "gene_name": "Pmm1", "activity": [ { "ec_number": "5.4.2.8", "activity": "alpha-D-mannose 1-phosphate = D-mannose 6-phosphate.", "evidence": [ { "id": "A6HT35", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A6HT35" } ] }, { "ec_number": "5.4.2.8", "activity": "", "evidence": [ { "id": "A6HT35", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A6HT35" } ] } ] }, { "uniprot_ac": "F7F1X7", "gene_name": "Pmm2", "activity": [ { "ec_number": "5.4.2.8", "activity": "alpha-D-mannose 1-phosphate = D-mannose 6-phosphate.", "evidence": [ { "id": "F7F1X7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/F7F1X7" } ] }, { "ec_number": "5.4.2.8", "activity": "", "evidence": [ { "id": "F7F1X7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/F7F1X7" } ] } ] }, { "uniprot_ac": "O15305", "gene_name": "PMM2", "activity": [ { "ec_number": "5.4.2.8", "activity": "alpha-D-mannose 1-phosphate = D-mannose 6-phosphate.", "evidence": [ { "id": "O15305", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O15305" } ] }, { "ec_number": "5.4.2.8", "activity": "", "evidence": [ { "id": "O15305", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O15305" } ] } ] }, { "uniprot_ac": "O35621", "gene_name": "Pmm1", "activity": [ { "ec_number": "5.4.2.8", "activity": "alpha-D-mannose 1-phosphate = D-mannose 6-phosphate.", "evidence": [ { "id": "O35621", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O35621" } ] }, { "ec_number": "5.4.2.8", "activity": "", "evidence": [ { "id": "O35621", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O35621" } ] } ] }, { "uniprot_ac": "P07283", "gene_name": "SEC53", "activity": [ { "ec_number": "5.4.2.8", "activity": "alpha-D-mannose 1-phosphate = D-mannose 6-phosphate.", "evidence": [ { "id": "P07283", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07283" } ] }, { "ec_number": "5.4.2.8", "activity": "", "evidence": [ { "id": "P07283", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07283" } ] } ] }, { "uniprot_ac": "Q54X03", "gene_name": "pmmA", "activity": [ { "ec_number": "5.4.2.8", "activity": "alpha-D-mannose 1-phosphate = D-mannose 6-phosphate.", "evidence": [ { "id": "Q54X03", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q54X03" } ] }, { "ec_number": "5.4.2.8", "activity": "", "evidence": [ { "id": "Q54X03", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q54X03" } ] } ] }, { "uniprot_ac": "Q86B09", "gene_name": "pmmB", "activity": [ { "ec_number": "5.4.2.8", "activity": "alpha-D-mannose 1-phosphate = D-mannose 6-phosphate.", "evidence": [ { "id": "Q86B09", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q86B09" } ] }, { "ec_number": "5.4.2.8", "activity": "", "evidence": [ { "id": "Q86B09", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q86B09" } ] } ] }, { "uniprot_ac": "Q92871", "gene_name": "PMM1", "activity": [ { "ec_number": "5.4.2.8", "activity": "alpha-D-mannose 1-phosphate = D-mannose 6-phosphate.", "evidence": [ { "id": "Q92871", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q92871" } ] }, { "ec_number": "5.4.2.8", "activity": "", "evidence": [ { "id": "Q92871", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q92871" } ] } ] }, { "uniprot_ac": "Q9VTZ6", "gene_name": "Pmm2", "activity": [ { "ec_number": "5.4.2.8", "activity": "alpha-D-mannose 1-phosphate = D-mannose 6-phosphate.", "evidence": [ { "id": "Q9VTZ6", 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"glycation_sites": [], "phosphorylation_sites": [], "sequon_annotation_sites": [ { "start_pos": 128, "end_pos": 130 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", 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"count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 35 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }