{ "uniprot_canonical_ac": "Q6ZNB7-1", "uniprot_ac": "Q6ZNB7", "uniprot_id": "ALKMO_HUMAN", "mass": { "chemical_mass": 51500.0, "monoisotopic_mass": 51500.0 }, "refseq": { "ac": "NP_001004320", "name": "alkylglycerol monooxygenase", "summary": "The protein encoded by this gene is a tetrahydrobiopterin- and iron-dependent enzyme that cleaves the ether bond of alkylglycerols. Sequence comparisons distinguish this protein as forming a third, distinct class of tetrahydrobiopterin-dependent enzymes. Variations in this gene have been associated with decreased glucose-stimulated insulin response, type 2 diabetes, and susceptibility to intracranial aneurysms. [provided by RefSeq, Aug 2012].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001004320" }, "gene_names": [ { "name": "AGMO", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q6ZNB7", "id": "Q6ZNB7" }, { "name": "AGMO", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001004320", "id": "NP_001004320" }, { "name": "TMEM195", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001004320", "id": "NP_001004320" }, { "name": "TMEM195", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q6ZNB7", "id": "Q6ZNB7" } ], "protein_names": [ { "name": "Alkylglycerol monooxygenase", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q6ZNB7" }, { "name": "1.14.16.5", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q6ZNB7" }, { "name": "Transmembrane protein 195", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q6ZNB7" }, { "name": "alkylglycerol monooxygenase", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001004320", "id": "NP_001004320" }, { "name": "transmembrane protein 195; glyceryl-ether monooxygenase", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001004320", "id": "NP_001004320" } ], "function": [ { "annotation": "Among all of the acidic residues within the eight-histidine motif, only mutation of Glu137 to alanine led to an 18-fold increase in the Michaelis-Menten constant for tetrahydrobiopterin, suggesting a role in tetrahydrobiopterin interaction", "evidence": [ { "database": "RefSeq", "id": "NP_001004320", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001004320" }, { "database": "PubMed", "id": "22220568", "url": "https://glygen.org/publication/PubMed/22220568" } ] }, { "annotation": "An AGMO mutation was found in a Saudi family underlying primary microcephaly and intellectual disability.", "evidence": [ { "database": "RefSeq", "id": "NP_001004320", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001004320" }, { "database": "PubMed", "id": "27000257", "url": "https://glygen.org/publication/PubMed/27000257" } ] }, { "annotation": "Biallelic variants in AGMO with diminished enzyme activity are associated with a neurodevelopmental disorder.", "evidence": [ { "database": "RefSeq", "id": "NP_001004320", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001004320" }, { "database": "PubMed", "id": "31555905", "url": "https://glygen.org/publication/PubMed/31555905" } ] }, { "annotation": "Glyceryl-ether monooxygenase that cleaves the O-alkyl bond of ether lipids. Ether lipids are essential components of brain membranes.", "evidence": [ { "database": "UniProtKB", "id": "Q6ZNB7", "url": "https://www.uniprot.org/uniprot/Q6ZNB7#function" }, { "database": "PubMed", "id": "20643956", "url": "https://glygen.org/publication/PubMed/20643956" } ] }, { "annotation": "Meta-analysis and genome-wide association study of gene-disease association. (HuGE Navigator) Erratum:[Nat Genet.2010 May;42(5):464]", "evidence": [ { "database": "RefSeq", "id": "NP_001004320", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001004320" }, { "database": "PubMed", "id": "20081858", "url": "https://glygen.org/publication/PubMed/20081858" } ] }, { "annotation": "Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)", "evidence": [ { "database": "RefSeq", "id": "NP_001004320", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001004320" }, { "database": "PubMed", "id": "20613766", "url": "https://glygen.org/publication/PubMed/20613766" } ] }, { "annotation": "Observational study of gene-disease association. (HuGE Navigator)", "evidence": [ { "database": "RefSeq", "id": "NP_001004320", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001004320" }, { "database": "PubMed", "id": "20419449", "url": "https://glygen.org/publication/PubMed/20419449" } ] }, { "annotation": "The protein encoded by this gene is a tetrahydrobiopterin- and iron-dependent enzyme that cleaves the ether bond of alkylglycerols. Sequence comparisons distinguish this protein as forming a third, distinct class of tetrahydrobiopterin-dependent enzymes. Variations in this gene have been associated with decreased glucose-stimulated insulin response, type 2 diabetes, and susceptibility to intracranial aneurysms. [provided by RefSeq, Aug 2012].", "evidence": [ { "database": "RefSeq", "id": "NP_001004320", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001004320" } ] }, { "annotation": "Transmembrane protein 195 has tetrahydrobiopterin-dependent alkylglycerol monooxygenase activity (also known as glyceryl-ether monooxygenase activity, E.C. 1.14.16.5).", "evidence": [ { "database": "RefSeq", "id": "NP_001004320", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001004320" }, { "database": "PubMed", "id": "20643956", "url": "https://glygen.org/publication/PubMed/20643956" } ] }, { "annotation": "We identified homozygous and heterozygous mutations of the alkylglycerol monooxygenase (AGMO) gene (MIM 613738) as the likely cause of visceral leishmaniasis relapse in 3 families.", "evidence": [ { "database": "RefSeq", "id": "NP_001004320", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001004320" }, { "database": "PubMed", "id": "28586473", "url": "https://glygen.org/publication/PubMed/28586473" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "Q6ZNB7", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/Q6ZNB7" } ], "glycoeffect": [], "start_pos": 405, "end_pos": 405, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "7", "chr_pos": "15365563", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R405", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - 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"https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" 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"name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "Q6ZNB7", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/Q6ZNB7" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 49, "end_pos": 49, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "Y", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "7", "chr_pos": "15560252", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S49", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": 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developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": 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Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "Q6ZNB7", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q6ZNB7" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q6ZNB7" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ 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"http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": 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of Alkylglycerol monooxygenase OS=Homo sapiens OX=9606 GN=AGMO PE=1 SV=1 CANONICAL=Q6ZNB7-1" }, "locus": { "chromosome": "7", "start_pos": 15561845, "end_pos": 15201288, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000342526.8", "url": "https://www.ensembl.org/id/ENST00000342526.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000341662.3", "url": "https://www.ensembl.org/id/ENSP00000341662.3" } ] } } ], "glycosylation": [], "phosphorylation": [ { "start_pos": 21, "end_pos": 21, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q6ZNB7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6ZNB7" }, { "database": "PubMed", "id": "17287340", "url": "https://glygen.org/publication/PubMed/17287340" } ], "site_lbl": "Tyr21" }, { "start_pos": 32, "end_pos": 32, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", 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Endocrinology and metabolism", "date": "2003", "authors": "Lockwood JF, Cao J, Burn P, Shi Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-75109", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-75109" } ], "reference": [ { "type": "PubMed", "id": "12824082", "url": "https://glygen.org/publication/PubMed/12824082" } ] }, { "title": "A novel diacylglycerol acyltransferase (DGAT2) is decreased in human psoriatic skin and increased in diabetic mice.", "journal": "Biochemical and biophysical research communications", "date": "2003", "authors": "Wakimoto K, Chiba H, Michibata H, Seishima M, Kawasaki S, Okubo K, Mitsui H, Torii H, Imai Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-75109", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-75109" } ], "reference": [ { "type": "PubMed", "id": "14521909", "url": "https://glygen.org/publication/PubMed/14521909" } ] }, { "title": "Genomic organization of the DGAT2/MOGAT gene family in cattle (Bos taurus) and other mammals.", "journal": "Cytogenetic and genome research", "date": "2003", "authors": "Winter A, van Eckeveld M, Bininda-Emonds OR, Habermann FA, Fries R", "evidence": [ { "database": "Reactome", "id": "R-HSA-75109", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-75109" } ], "reference": [ { "type": "PubMed", "id": "14970677", "url": "https://glygen.org/publication/PubMed/14970677" } ] }, { "title": "Human and murine glycerol kinase: influence of exon 18 alternative splicing on function.", "journal": "Biochemical and biophysical research communications", "date": "2005", "authors": "Ohira RH, Dipple KM, Zhang YH, McCabe ER", "evidence": [ { "database": "Reactome", "id": "R-HSA-75109", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-75109" } ], "reference": [ { "type": "PubMed", "id": "15845384", "url": "https://glygen.org/publication/PubMed/15845384" } ] }, { "title": "Three mammalian lipins act as phosphatidate phosphatases with distinct tissue expression patterns.", "journal": "The Journal of biological chemistry", "date": "2007", "authors": "Donkor J, Sariahmetoglu M, Dewald J, Brindley DN, Reue K", "evidence": [ { "database": "Reactome", "id": "R-HSA-75109", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-75109" } ], "reference": [ { "type": "PubMed", "id": "17158099", "url": "https://glygen.org/publication/PubMed/17158099" } ] }, { "title": "Global proteomic profiling of phosphopeptides using electron transfer dissociation tandem mass spectrometry.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2007", "authors": "Molina H, Horn DM, Tang N, Mathivanan S, Pandey A", "evidence": [ { "database": "iPTMnet", "id": "Q6ZNB7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6ZNB7" } ], "reference": [ { "type": "PubMed", "id": "17287340", "url": "https://glygen.org/publication/PubMed/17287340" } ] }, { "title": "AGPAT6 is a novel microsomal glycerol-3-phosphate acyltransferase.", "journal": "The Journal of biological chemistry", "date": "2008", "authors": "Chen YQ, Kuo MS, Li S, Bui HH, Peake DA, Sanders PE, Thibodeaux SJ, Chu S, Qian YW, Zhao Y, Bredt DS, Moller DE, Konrad RJ, Beigneux AP, Young SG, Cao G", "evidence": [ { "database": "Reactome", "id": "R-HSA-75109", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-75109" } ], "reference": [ { "type": "PubMed", "id": "18238778", "url": "https://glygen.org/publication/PubMed/18238778" } ] }, { "title": "Temporal and spatial regulation of the phosphatidate phosphatases lipin 1 and 2.", "journal": "The Journal of biological chemistry", "date": "2008", "authors": "Grimsey N, Han GS, O'Hara L, Rochford JJ, Carman GM, Siniossoglou S", "evidence": [ { "database": "Reactome", "id": "R-HSA-75109", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-75109" } ], "reference": [ { "type": "PubMed", "id": "18694939", "url": "https://glygen.org/publication/PubMed/18694939" } ] }, { "title": "Acyl-CoA:lysophospholipid acyltransferases.", "journal": "The Journal of biological chemistry", "date": "2009", "authors": "Shindou H, Shimizu T", "evidence": [ { "database": "Reactome", "id": "R-HSA-75109", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-75109" } ], "reference": [ { "type": "PubMed", "id": "18718904", "url": "https://glygen.org/publication/PubMed/18718904" } ] }, { "title": "Biochemistry, physiology, and genetics of GPAT, AGPAT, and lipin enzymes in triglyceride synthesis.", "journal": "American journal of physiology. Endocrinology and metabolism", "date": "2009", "authors": "Takeuchi K, Reue K", "evidence": [ { "database": "Reactome", "id": "R-HSA-75109", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-75109" } ], "reference": [ { "type": "PubMed", "id": "19336658", "url": "https://glygen.org/publication/PubMed/19336658" } ] }, { "title": "New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk.", "journal": "Nature genetics", "date": "2010", "authors": "Dupuis J, Langenberg C, Prokopenko I, Saxena R, Soranzo N, Jackson AU, Wheeler E, Glazer NL, Bouatia-Naji N, Gloyn AL, Lindgren CM, Magi R, Morris AP, Randall J, Johnson T, Elliott P, Rybin D, Thorleifsson G, Steinthorsdottir V, Henneman P, Grallert H, Dehghan A, Hottenga JJ, Franklin CS, Navarro P, Song K, Goel A, Perry JR, Egan JM, Lajunen T, Grarup N, Sparso T, Doney A, Voight BF, Stringham HM, Li M, Kanoni S, Shrader P, Cavalcanti-Proenca C, Kumari M, Qi L, Timpson NJ, Gieger C, Zabena C, Rocheleau G, Ingelsson E, An P, O'Connell J, Luan J, Elliott A, McCarroll SA, Payne F, Roccasecca RM, Pattou F, Sethupathy P, Ardlie K, Ariyurek Y, Balkau B, Barter P, Beilby JP, Ben-Shlomo Y, Benediktsson R, Bennett AJ, Bergmann S, Bochud M, Boerwinkle E, Bonnefond A, Bonnycastle LL, Borch-Johnsen K, Bottcher Y, Brunner E, Bumpstead SJ, Charpentier G, Chen YD, Chines P, Clarke R, Coin LJ, Cooper MN, Cornelis M, Crawford G, Crisponi L, Day IN, de Geus EJ, Delplanque J, Dina C, Erdos MR, Fedson AC, Fischer-Rosinsky A, Forouhi NG, Fox CS, Frants R, Franzosi MG, Galan P, Goodarzi MO, Graessler J, Groves CJ, Grundy S, Gwilliam R, Gyllensten U, Hadjadj S, Hallmans G, Hammond N, Han X, Hartikainen AL, Hassanali N, Hayward C, Heath SC, Hercberg S, Herder C, Hicks AA, Hillman DR, Hingorani AD, Hofman A, Hui J, Hung J, Isomaa B, Johnson PR, Jorgensen T, Jula A, Kaakinen M, Kaprio J, Kesaniemi YA, Kivimaki M, Knight B, Koskinen S, Kovacs P, Kyvik KO, Lathrop GM, Lawlor DA, Le Bacquer O, Lecoeur 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Zhai G, Zhao JH, Zillikens MC, Borecki IB, Loos RJ, Meneton P, Magnusson PK, Nathan DM, Williams GH, Hattersley AT, Silander K, Salomaa V, Smith GD, Bornstein SR, Schwarz P, Spranger J, Karpe F, Shuldiner AR, Cooper C, Dedoussis GV, Serrano-Rios M, Morris AD, Lind L, Palmer LJ, Hu FB, Franks PW, Ebrahim S, Marmot M, Kao WH, Pankow JS, Sampson MJ, Kuusisto J, Laakso M, Hansen T, Pedersen O, Pramstaller PP, Wichmann HE, Illig T, Rudan I, Wright AF, Stumvoll M, Campbell H, Wilson JF, Bergman RN, Buchanan TA, Collins FS, Mohlke KL, Tuomilehto J, Valle TT, Altshuler D, Rotter JI, Siscovick DS, Penninx BW, Boomsma DI, Deloukas P, Spector TD, Frayling TM, Ferrucci L, Kong A, Thorsteinsdottir U, Stefansson K, van Duijn CM, Aulchenko YS, Cao A, Scuteri A, Schlessinger D, Uda M, Ruokonen A, Jarvelin MR, Waterworth DM, Vollenweider P, Peltonen L, Mooser V, Abecasis GR, Wareham NJ, Sladek R, Froguel P, Watanabe RM, Meigs JB, Groop L, Boehnke M, McCarthy MI, Florez JC, Barroso I", "evidence": [ { 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Cui T, Takahashi T, Yasuno K, Tajima A, Krischek B, Yamamoto K, Kasuya H, Hata A, Inoue I", "evidence": [ { "database": "RefSeq", "id": "NP_001004320", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001004320" } ], "reference": [ { "type": "PubMed", "id": "20613766", "url": "https://glygen.org/publication/PubMed/20613766" } ] }, { "title": "Identification of the gene encoding alkylglycerol monooxygenase defines a third class of tetrahydrobiopterin-dependent enzymes.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "2010", "authors": "Watschinger K, Keller MA, Golderer G, Hermann M, Maglione M, Sarg B, Lindner HH, Hermetter A, Werner-Felmayer G, Konrat R, Hulo N, Werner ER", "evidence": [ { "database": "UniProtKB", "id": "Q6ZNB7", "url": "https://www.uniprot.org/uniprot/Q6ZNB7" }, { "database": "Reactome", "id": "R-HSA-75109", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-75109" }, { "database": "RefSeq", "id": "NP_001004320", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001004320" } ], "reference": [ { "type": "PubMed", "id": "20643956", "url": "https://glygen.org/publication/PubMed/20643956" } ] }, { "title": "Catalytic residues and a predicted structure of tetrahydrobiopterin-dependent alkylglycerol mono-oxygenase.", "journal": "The Biochemical journal", "date": "2012", "authors": "Watschinger K, Fuchs JE, Yarov-Yarovoy V, Keller MA, Golderer G, Hermetter A, Werner-Felmayer G, Hulo N, Werner ER", "evidence": [ { "database": "RefSeq", "id": "NP_001004320", "url": 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"Alrayes N, Mohamoud HS, Ahmed S, Almramhi MM, Shuaib TM, Wang J, Al-Aama JY, Everett K, Nasir J, Jelani M", "evidence": [ { "database": "RefSeq", "id": "NP_001004320", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001004320" } ], "reference": [ { "type": "PubMed", "id": "27000257", "url": "https://glygen.org/publication/PubMed/27000257" } ] }, { "title": "Exome Sequencing Identifies Two Variants of the Alkylglycerol Monooxygenase Gene as a Cause of Relapses in Visceral Leishmaniasis in Children, in Sudan.", "journal": "The Journal of infectious diseases", "date": "2017", "authors": "Marquet S, Bucheton B, Reymond C, Argiro L, El-Safi SH, Kheir MM, Desvignes JP, Beroud C, Mergani A, Hammad A, Dessein AJ", "evidence": [ { "database": "RefSeq", "id": "NP_001004320", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001004320" } ], "reference": [ { "type": "PubMed", "id": "28586473", "url": "https://glygen.org/publication/PubMed/28586473" } ] }, { "title": "Biallelic variants in AGMO with diminished enzyme activity are associated with a neurodevelopmental disorder.", "journal": "Human genetics", "date": "2019", "authors": "Okur V, Watschinger K, Niyazov D, McCarrier J, Basel D, Hermann M, Werner ER, Chung WK", "evidence": [ { "database": "RefSeq", "id": "NP_001004320", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001004320" } ], "reference": [ { "type": "PubMed", "id": "31555905", "url": "https://glygen.org/publication/PubMed/31555905" } ] } ], "pathway": [ { "id": "hsa:392636", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:392636", "resource": "KEGG Pathway" }, { "id": "R-HSA-75109", "name": "Triglyceride biosynthesis", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-75109", "resource": "Reactome", "description": "Triglyceride biosynthesis" } ], "orthologs": [ { "uniprot_canonical_ac": "A0JPQ8-1", "protein_name": "Alkylglycerol monooxygenase", "gene_name": "Agmo", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { 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"ptm_annotation": [], "interactions": [], "reactions": [ { "id": "36255", "name": "", "equation": "(6R)-L-erythro-5,6,7,8-tetrahydrobiopterin + 1-O-(1,2-saturated-alkyl)-sn-glycerol + O2 = (6R)-L-erythro-6,7-dihydrobiopterin + a 1-(1-hydroxyalkyl)-sn-glycerol + H2O", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "A0JPQ8-1", "Q6ZNB7-1", "Q8BS35-1" ], "evidence": [ { "id": "36255", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/36255" } ] }, { "id": "R-HSA-5696119", "name": "AGMO cleaves alkylglycerol into fatty aldehyde and glycerol", "equation": "", "summary": "Ether lipids (alkylglycerols, glyceryl ethers) are essential components of brain membranes, protect the eye from cataract, mediate signalling processes and are required for spermatogenesis. Alkylglycerol monooxygenase (AGMO) is a tetrahydrobiopterin-dependent protein and is the only enzyme known to cleave the ether bond of alkylglycerols and lyso-alkylglycerol phospholipids into fatty aldehydes and glycerol derivatives (Watschinger et al. 2010).", "cellular_location": "endoplasmic reticulum lumen, endoplasmic reticulum membrane", "input_participant_list": [ "R-ALL-5696122" ], "output_participant_list": [ "R-ALL-5696116" ], "enzyme_list": [ "Q6ZNB7-1" ], "evidence": [ { "id": "R-HSA-5696119", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5696119" } ] } ], "reaction_participants": [ { "participant_id": "R-ALL-5696116", "participant_name": "fatty aldehyde [cytosol]", "crossref": [ { "id": "35746", "database": "ChEBI", "url": "" }, { "id": "35746", "database": "ChEBI", "url": "" }, { "id": "35746", "database": "ChEBI", "url": "" }, { "id": "35746", "database": "ChEBI", "url": "" }, { "id": "35746", "database": "ChEBI", "url": "" } ] }, { 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