{ "uniprot_canonical_ac": "Q93088-1", "uniprot_ac": "Q93088", "uniprot_id": "BHMT1_HUMAN", "mass": { "chemical_mass": 44998.0, "monoisotopic_mass": 44998.0 }, "refseq": { "ac": "NP_001704", "name": "betaine--homocysteine S-methyltransferase 1", "summary": "This gene encodes a cytosolic enzyme that catalyzes the conversion of betaine and homocysteine to dimethylglycine and methionine, respectively. Defects in this gene could lead to hyperhomocyst(e)inemia, but such a defect has not yet been observed. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001704" }, "gene_names": [ { "name": "BHMT", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q93088", "id": "Q93088" }, { "name": "BHMT1; HEL-S-61p", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001704", "id": "NP_001704" }, { "name": "BHMT", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001704", "id": "NP_001704" } ], "protein_names": [ { "name": "Betaine--homocysteine S-methyltransferase 1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q93088" }, { "name": "2.1.1.5", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q93088" }, { "name": "betaine--homocysteine S-methyltransferase 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001704", "id": "NP_001704" }, { "name": "epididymis secretory sperm binding protein Li 61p", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001704", "id": "NP_001704" } ], "function": [ { "annotation": "Association of Betaine-Homocysteine S-Methyl Transferase (rs3797546 and rs3733890) polymorphisms with non-syndromic cleft lip/palate: A meta-analysis.", "evidence": [ { "database": "RefSeq", "id": "NP_001704", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001704" }, { "database": "PubMed", "id": "31451344", "url": "https://glygen.org/publication/PubMed/31451344" } ] }, { "annotation": "BHMT polymorphism and susceptibility to PTE in Chinese patients.", "evidence": [ { "database": "RefSeq", "id": "NP_001704", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001704" }, { "database": "PubMed", "id": "37203835", "url": "https://glygen.org/publication/PubMed/37203835" } ] }, { "annotation": "Interaction analysis of gene variants related to one-carbon metabolism with chronic hepatitis B infection in Chinese patients.", "evidence": [ { "database": "RefSeq", "id": "NP_001704", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001704" }, { "database": "PubMed", "id": "33894044", "url": "https://glygen.org/publication/PubMed/33894044" } ] }, { "annotation": "Involved in the regulation of homocysteine metabolism.", "evidence": [ { "database": "UniProtKB", "id": "E5RJH0", "url": "https://www.uniprot.org/uniprot/E5RJH0#function" }, { "database": "UniProtKB", "id": "PIRNR037505", "url": "https://www.uniprot.org/uniprot/PIRNR037505#function" } ] }, { "annotation": "Involved in the regulation of homocysteine metabolism. Converts betaine and homocysteine to dimethylglycine and methionine, respectively. This reaction is also required for the irreversible oxidation of choline.", "evidence": [ { "database": "UniProtKB", "id": "Q93088", "url": "https://www.uniprot.org/uniprot/Q93088#function" }, { "database": "PubMed", "id": "8798461", "url": "https://glygen.org/publication/PubMed/8798461" }, { "database": "PubMed", "id": "9681996", "url": "https://glygen.org/publication/PubMed/9681996" }, { "database": "PubMed", "id": "10529246", "url": "https://glygen.org/publication/PubMed/10529246" } ] }, { "annotation": "Lower levels of BHMT or CBS promoter total methylation might be associated with increased the risk of treatment failure.", "evidence": [ { "database": "RefSeq", "id": "NP_001704", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001704" }, { "database": "PubMed", "id": "31558761", "url": "https://glygen.org/publication/PubMed/31558761" } ] }, { "annotation": "The BHMT-betaine methylation pathway epigenetically modulates oligodendrocyte maturation. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001704", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001704" }, { "database": "PubMed", "id": "33975330", "url": "https://glygen.org/publication/PubMed/33975330" } ] }, { "annotation": "This gene encodes a cytosolic enzyme that catalyzes the conversion of betaine and homocysteine to dimethylglycine and methionine, respectively. Defects in this gene could lead to hyperhomocyst(e)inemia, but such a defect has not yet been observed. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_001704", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001704" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "Q93088", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/Q93088" } ], "glycoeffect": [], "start_pos": 239, "end_pos": 239, "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": "5", "chr_pos": "79126136", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R239", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease 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"https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has 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": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": 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"MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] }, { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "Q93088", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/Q93088" } ], "glycoeffect": [], "start_pos": 57, "end_pos": 57, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "5", "chr_pos": "79119261", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R57", "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": 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Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant 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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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"malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", 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"end_pos": 216, "sequence_org": "N", "sequence_mut": "A", "comment": "Decreases the catalytic efficiency.", "evidence": [ { "database": "UniProtKB", "id": "Q93088", "url": "https://www.uniprot.org/uniprot/Q93088" }, { "database": "PubMed", "id": "10529246", "url": "https://glygen.org/publication/PubMed/10529246" } ] }, { "start_pos": 216, "end_pos": 216, "sequence_org": "N", "sequence_mut": "C", "comment": "Decreases the catalytic efficiency.", "evidence": [ { "database": "UniProtKB", "id": "Q93088", "url": "https://www.uniprot.org/uniprot/Q93088" }, { "database": "PubMed", "id": "10529246", "url": "https://glygen.org/publication/PubMed/10529246" } ] }, { "start_pos": 217, "end_pos": 217, "sequence_org": "C", "sequence_mut": "A", "comment": "Impairs zinc ion binding. Loss of catalytic activity.", "evidence": [ { "database": "UniProtKB", "id": "Q93088", "url": "https://www.uniprot.org/uniprot/Q93088" }, { "database": "PubMed", "id": "10529246", "url": "https://glygen.org/publication/PubMed/10529246" } ] }, { "start_pos": 217, "end_pos": 217, "sequence_org": "C", "sequence_mut": "H", "comment": "Impairs zinc ion binding. Loss of catalytic activity.", "evidence": [ { "database": "UniProtKB", "id": "Q93088", "url": "https://www.uniprot.org/uniprot/Q93088" }, { "database": "PubMed", "id": "10529246", "url": "https://glygen.org/publication/PubMed/10529246" } ] }, { "start_pos": 217, "end_pos": 217, "sequence_org": "C", "sequence_mut": "S", "comment": "Impairs zinc ion binding. 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Loss of catalytic activity.", "evidence": [ { "database": "UniProtKB", "id": "Q93088", "url": "https://www.uniprot.org/uniprot/Q93088" }, { "database": "PubMed", "id": "10529246", "url": "https://glygen.org/publication/PubMed/10529246" } ] }, { "start_pos": 300, "end_pos": 300, "sequence_org": "C", "sequence_mut": "A", "comment": "Impairs zinc ion binding. Loss of catalytic activity.", "evidence": [ { "database": "UniProtKB", "id": "Q93088", "url": "https://www.uniprot.org/uniprot/Q93088" }, { "database": "PubMed", "id": "10529246", "url": "https://glygen.org/publication/PubMed/10529246" } ] }, { "start_pos": 300, "end_pos": 300, "sequence_org": "C", "sequence_mut": "S", "comment": "Impairs zinc ion binding. 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"MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has 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}, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has 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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": "Q93088", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q93088" } ], "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/Q93088" } ], "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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"InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036589", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036589", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:635", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:635", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "602888", "url": "http://www.omim.org/entry/602888", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_Q93088", "url": "https://www.nextprot.org/entry/NX_Q93088", "database": "neXtProt", "categories": [ "Organism-specific", "Protein" ] }, { "id": "Q93088", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q93088", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "CKDKTEV", "url": "https://omabrowser.org/oma/group/CKDKTEV/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "66796at2759", "url": "http://www.orthodb.org/?query=66796at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR46120", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR46120", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR46120:SF2", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR46120:SF2", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "1LT7", "url": "https://www.rcsb.org/structure/1LT7", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1LT8", "url": "https://www.rcsb.org/structure/1LT8", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4M3P", "url": "https://www.rcsb.org/structure/4M3P", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "8D45", "url": "https://www.rcsb.org/structure/8D45", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF02574", "url": "http://pfam.xfam.org/family/PF02574", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "Q93088", "url": "https://pharos.nih.gov/targets/Q93088", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_Q93088", "url": "http://purl.obolibrary.org/obo/PR_Q93088", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-1614635", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1614635", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-6798163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6798163", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001704", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001704", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "22336", "url": "https://www.rhea-db.org/rhea/22336", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "E5RJH0", "url": "https://www.uniprot.org/uniprot/E5RJH0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E5RJH0-1", "url": "https://www.uniprot.org/uniprot/E5RJH0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q93088", "url": "https://www.uniprot.org/uniprot/Q93088", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q93088-1", "url": "https://www.uniprot.org/uniprot/Q93088-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MPPVGGKKAKKGILERLNAGEIVIGDGGFVFALEKRGYVKAGPWTPEAAVEHPEAVRQLHREFLRAGSNVMQTFTFYASEDKLENRGNYVLEKISGQEVNEAACDIARQVADEGDALVAGGVSQTPSYLSCKSETEVKKVFLQQLEVFMKKNVDFLIAEYFEHVEEAVWAVETLIASGKPVAATMCIGPEGDLHGVPPGECAVRLVKAGASIIGVNCHFDPTISLKTVKLMKEGLEAARLKAHLMSQPLAYHTPDCNKQGFIDLPEFPFGLEPRVATRWDIQKYAREAYNLGVRYIGGCCGFEPYHIRAIAEELAPERGFLPPASEKHGSWGSGLDMHTKPWVRARARKEYWENLRIASGRPYNPSMSKPDGWGVTKGTAELMQQKEATTEQQLKELFEKQKFKSQ", "length": 406, "header": "sp|Q93088-1|BHMT1_HUMAN Isoform 1 of Betaine--homocysteine S-methyltransferase 1 OS=Homo sapiens OX=9606 GN=BHMT PE=1 SV=2 CANONICAL=Q93088-1" }, "isoforms": [ { "isoform_ac": "E5RJH0-1", "url": "", "sequence": { "sequence": "MPPVGGKKAKKGILERLNAGEIVIGDGGFVFALEKRGYVKAGPWTPEAAVEHPEAGASIIGVNCHFDPTISLKTVKLMKEGLEAARLKAHLMSQPLAYHTPDCNKQGFIDLPEFPFGLEPRVATRWDIQKYAREAYNLGVRYIGGCCGFEPYHIRAIAEELAPERGFLPPASEKHGSWGSGLDMHTKPWVRARARKEYWENLRIASGRPYNPSMSKPDGWGVTKGTAELMQQKEATTEQQLKELFEKQKFKSQ", "length": 253, "header": "tr|E5RJH0-1|BHMT1_HUMAN Computationally mapped isoform of Betaine--homocysteine S-methyltransferase 1 OS=Homo sapiens OX=9606 GN=BHMT PE=1 SV=1 CANONICAL=Q93088-1" }, "locus": { "chromosome": "5", "start_pos": 79131113, "end_pos": 79111886, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000524080.1", "url": "https://www.ensembl.org/id/ENST00000524080.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000428240.1", "url": "https://www.ensembl.org/id/ENSP00000428240.1" } ] } }, { "isoform_ac": "Q93088-1", "url": "", "sequence": { "sequence": "MPPVGGKKAKKGILERLNAGEIVIGDGGFVFALEKRGYVKAGPWTPEAAVEHPEAVRQLHREFLRAGSNVMQTFTFYASEDKLENRGNYVLEKISGQEVNEAACDIARQVADEGDALVAGGVSQTPSYLSCKSETEVKKVFLQQLEVFMKKNVDFLIAEYFEHVEEAVWAVETLIASGKPVAATMCIGPEGDLHGVPPGECAVRLVKAGASIIGVNCHFDPTISLKTVKLMKEGLEAARLKAHLMSQPLAYHTPDCNKQGFIDLPEFPFGLEPRVATRWDIQKYAREAYNLGVRYIGGCCGFEPYHIRAIAEELAPERGFLPPASEKHGSWGSGLDMHTKPWVRARARKEYWENLRIASGRPYNPSMSKPDGWGVTKGTAELMQQKEATTEQQLKELFEKQKFKSQ", "length": 406, "header": "sp|Q93088-1|BHMT1_HUMAN Isoform 1 of Betaine--homocysteine S-methyltransferase 1 OS=Homo sapiens OX=9606 GN=BHMT PE=1 SV=2 CANONICAL=Q93088-1" }, "locus": { "chromosome": "5", "start_pos": 79131113, "end_pos": 79111886, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000274353.10", "url": "https://www.ensembl.org/id/ENST00000274353.10" }, { "database": "Ensembl Peptide", "id": "ENSP00000274353.5", "url": "https://www.ensembl.org/id/ENSP00000274353.5" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "Q93088", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q93088" }, { "id": "26374642", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26374642" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" } ] } ], "phosphorylation": [ { "start_pos": 330, "end_pos": 330, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q93088", "url": "https://www.uniprot.org/uniprot/Q93088" } ], "site_lbl": "Ser330" } ], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Interaction between dietary methionine and methyl donor intake on rat liver betaine-homocysteine methyltransferase gene expression and organization of the human gene.", "journal": "J. Biol. Chem.", "date": "1999", "authors": "Garrow T.A., Park E.I.", "evidence": [ { "database": "UniProtKB", "id": "Q93088", "url": "https://www.uniprot.org/uniprot/Q93088" } ], "reference": [ { "type": "PubMed", "id": "10075673", "url": "https://glygen.org/publication/PubMed/10075673" } ] }, { "title": "Cloning and mapping of the cDNA for human sarcosine dehydrogenase, a flavoenzyme defective in patients with sarcosinemia.", "journal": "Genomics", "date": "1999", "authors": "Eschenbrenner M, Jorns MS", "evidence": [ { "database": "Reactome", "id": "R-HSA-6798163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6798163" } ], "reference": [ { "type": "PubMed", "id": "10444331", "url": "https://glygen.org/publication/PubMed/10444331" } ] }, { "title": "Recombinant human liver betaine-homocysteine S-methyltransferase: identification of three cysteine residues critical for zinc binding.", "journal": "Biochemistry", "date": "1999", "authors": "Breksa AP 3rd, Garrow TA", "evidence": [ { "database": "UniProtKB", "id": "Q93088", "url": "https://www.uniprot.org/uniprot/Q93088" } ], "reference": [ { "type": "PubMed", "id": "10529246", "url": "https://glygen.org/publication/PubMed/10529246" } ] }, { "title": "Structure and analysis of the human dimethylglycine dehydrogenase gene.", "journal": "Molecular genetics and metabolism", "date": "2000", "authors": "Binzak BA, Vockley JG, Jenkins RB, Vockley J", "evidence": [ { "database": "Reactome", "id": "R-HSA-6798163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6798163" } ], "reference": [ { "type": "PubMed", "id": "10767172", "url": "https://glygen.org/publication/PubMed/10767172" } ] }, { "title": "Cloning of dimethylglycine dehydrogenase and a new human inborn error of metabolism, dimethylglycine dehydrogenase deficiency.", "journal": "American journal of human genetics", "date": "2001", "authors": "Binzak BA, Wevers RA, Moolenaar SH, Lee YM, Hwu WL, Poggi-Bach J, Engelke UF, Hoard HM, Vockley JG, Vockley J", "evidence": [ { "database": "Reactome", "id": "R-HSA-6798163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6798163" } ], "reference": [ { "type": "PubMed", "id": "11231903", "url": "https://glygen.org/publication/PubMed/11231903" } ] }, { "title": "Betaine-homocysteine methyltransferase: zinc in a distorted barrel.", "journal": "Structure", "date": "2002", "authors": "Castro C., Evans J.C., Garrow T.A., Huddler D.P., Jiracek J., Ludwig M.L., Millian N.S.", "evidence": [ { "database": "UniProtKB", "id": "Q93088", "url": "https://www.uniprot.org/uniprot/Q93088" } ], "reference": [ { "type": "PubMed", "id": "12220488", "url": "https://glygen.org/publication/PubMed/12220488" } ] }, { "title": "Investigations of a common genetic variant in betaine-homocysteine methyltransferase (BHMT) in coronary artery disease.", "journal": "Atherosclerosis", "date": "2003", "authors": "Weisberg IS, Park E, Ballman KV, Berger P, Nunn M, Suh DS, Breksa AP 3rd, Garrow TA, Rozen R", "evidence": [ { "database": "UniProtKB", "id": "Q93088", "url": "https://www.uniprot.org/uniprot/Q93088" } ], "reference": [ { "type": "PubMed", "id": "12818402", "url": "https://glygen.org/publication/PubMed/12818402" } ] }, { "title": "Functional expression and processing of rat choline dehydrogenase precursor.", "journal": "Biochemical and biophysical research communications", "date": "2003", "authors": "Huang S, Lin Q", "evidence": [ { "database": "Reactome", "id": "R-HSA-6798163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6798163" } ], "reference": [ { "type": "PubMed", "id": "12951056", "url": "https://glygen.org/publication/PubMed/12951056" } ] }, { "title": "Studies on choline dehydrogenase. II. Components of the choline oxidase system and the site of action of amytal.", "journal": "The Journal of biological chemistry", "date": "1960", "authors": "PACKER L, ESTABROOK RW, SINGER TP, KIMURA T", "evidence": [ { "database": "Reactome", "id": "R-HSA-6798163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6798163" } ], "reference": [ { "type": "PubMed", "id": "14429690", "url": "https://glygen.org/publication/PubMed/14429690" } ] }, { "title": "Betaine-homocysteine S-methyltransferase-2 is an S-methylmethionine-homocysteine methyltransferase.", "journal": "The Journal of biological chemistry", "date": "2008", "authors": "Szegedi SS, Castro CC, Koutmos M, Garrow TA", "evidence": [ { "database": "Reactome", "id": "R-HSA-1614635", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1614635" } ], "reference": [ { "type": "PubMed", "id": "18230605", "url": "https://glygen.org/publication/PubMed/18230605" } ] }, { "title": "Human betaine-homocysteine methyltransferase (BHMT) and BHMT2: common gene sequence variation and functional characterization.", "journal": "Molecular genetics and metabolism", "date": "2008", "authors": "Li F, Feng Q, Lee C, Wang S, Pelleymounter LL, Moon I, Eckloff BW, Wieben ED, Schaid DJ, Yee V, Weinshilboum RM", "evidence": [ { "database": "Reactome", "id": "R-HSA-1614635", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1614635" } ], "reference": [ { "type": "PubMed", "id": "18457970", "url": "https://glygen.org/publication/PubMed/18457970" } ] }, { "title": "The solute carrier 44A1 is a mitochondrial protein and mediates choline transport.", "journal": "FASEB journal : official publication of the Federation of American Societies for Experimental Biology", "date": "2009", "authors": "Michel V, Bakovic M", "evidence": [ { "database": "Reactome", "id": "R-HSA-6798163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6798163" } ], "reference": [ { "type": "PubMed", "id": "19357133", "url": "https://glygen.org/publication/PubMed/19357133" } ] }, { "title": "Aldehyde dehydrogenase 7A1 (ALDH7A1) is a novel enzyme involved in cellular defense against hyperosmotic stress.", "journal": "The Journal of biological chemistry", "date": "2010", "authors": "Brocker C, Lassen N, Estey T, Pappa A, Cantore M, Orlova VV, Chavakis T, Kavanagh KL, Oppermann U, Vasiliou V", "evidence": [ { "database": "Reactome", "id": "R-HSA-6798163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6798163" } ], "reference": [ { "type": "PubMed", "id": "20207735", "url": "https://glygen.org/publication/PubMed/20207735" } ] }, { "title": "Mutations in the sarcosine dehydrogenase gene in patients with sarcosinemia.", "journal": "Human genetics", "date": "2012", "authors": "Bar-joseph I, Pras E, Reznik-Wolf H, Marek-Yagel D, Abu-Horvitz A, Dushnitzky M, Goldstein N, Rienstein S, Dekel M, Pode-Shakked B, Zlotnik J, Benarrosh A, Gillery P, Hofliger N, Auray-Blais C, Garnotel R, Anikster Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-6798163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6798163" } ], "reference": [ { "type": "PubMed", "id": "22825317", "url": "https://glygen.org/publication/PubMed/22825317" } ] }, { "title": "Proteomic analysis of O-GlcNAcylated proteins in invasive ductal breast carcinomas with and without lymph node metastasis.", "journal": "Amino acids", "date": "2016", "authors": "Jiang K, Gao Y, Hou W, Tian F, Ying W, Li L, Bai B, Hou G, Wang PG, Zhang L", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q93088", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q93088" } ], "reference": [ { "type": "PubMed", "id": "26374642", "url": "https://glygen.org/publication/PubMed/26374642" } ] }, { "title": "Association of Betaine-Homocysteine S-Methyl Transferase (rs3797546 and rs3733890) polymorphisms with non-syndromic cleft lip/palate: A meta-analysis.", "journal": "International orthodontics", "date": "2019", "authors": "Imani MM, Lopez-Jornet P, Lopez EP, Ghanbari F, Sadeghi M", "evidence": [ { "database": "RefSeq", "id": "NP_001704", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001704" } ], "reference": [ { "type": "PubMed", "id": "31451344", "url": "https://glygen.org/publication/PubMed/31451344" } ] }, { "title": "Association between BHMT and CBS gene promoter methylation with the efficacy of folic acid therapy in patients with hyperhomocysteinemia.", "journal": "Journal of human genetics", "date": "2019", "authors": "Huang X, Li D, Zhao Q, Zhang C, Ren B, Yue L, Du B, Godfrey O, Wang X, Zhang W", "evidence": [ { "database": "RefSeq", "id": "NP_001704", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001704" } ], "reference": [ { "type": "PubMed", "id": "31558761", "url": "https://glygen.org/publication/PubMed/31558761" } ] }, { "title": "Interaction analysis of gene variants related to one-carbon metabolism with chronic hepatitis B infection in Chinese patients.", "journal": "The journal of gene medicine", "date": "2021", "authors": "Sun YH, Gao J, Liu XD, Tang HW, Cao SL, Zhang JK, Wen PH, Wang ZH, Li J, Guo WZ, Zhang SJ", "evidence": [ { "database": "RefSeq", "id": "NP_001704", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001704" } ], "reference": [ { "type": "PubMed", "id": "33894044", "url": "https://glygen.org/publication/PubMed/33894044" } ] }, { "title": "The BHMT-betaine methylation pathway epigenetically modulates oligodendrocyte maturation.", "journal": "PloS one", "date": "2021", "authors": "Sternbach S, West N, Singhal NK, Clements R, Basu S, Tripathi A, Dutta R, Freeman EJ, McDonough J", "evidence": [ { "database": "RefSeq", "id": "NP_001704", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001704" } ], "reference": [ { "type": "PubMed", "id": "33975330", "url": "https://glygen.org/publication/PubMed/33975330" } ] }, { "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": "Q93088", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q93088" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "BHMT polymorphism and susceptibility to PTE in Chinese patients.", "journal": "European review for medical and pharmacological sciences", "date": "2023-05", "authors": "Zhang W-H, Zhao S-M, Guo J-F, Liu Y-P, Jiang Y-Q", "evidence": [ { "database": "RefSeq", "id": "NP_001704", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001704" } ], "reference": [ { "type": "PubMed", "id": "37203835", "url": "https://glygen.org/publication/PubMed/37203835" } ] }, { "title": "Purification, kinetic properties, and cDNA cloning of mammalian betaine-homocysteine methyltransferase.", "journal": "J. Biol. Chem.", "date": "1996", "authors": "Garrow TA", "evidence": [ { "database": "UniProtKB", "id": "Q93088", "url": "https://www.uniprot.org/uniprot/Q93088" } ], "reference": [ { "type": "PubMed", "id": "8798461", "url": "https://glygen.org/publication/PubMed/8798461" } ] }, { "title": "Betaine-homocysteine methyltransferase expression in porcine and human tissues and chromosomal localization of the human gene.", "journal": "Arch. Biochem. Biophys.", "date": "1997", "authors": "Garrow T.A., Miklasz S.D., Park E.I., Renduchintala M.S., Sunden S.L.F.", "evidence": [ { "database": "UniProtKB", "id": "Q93088", "url": "https://www.uniprot.org/uniprot/Q93088" } ], "reference": [ { "type": "PubMed", "id": "9281325", "url": "https://glygen.org/publication/PubMed/9281325" } ] }, { "title": "Human betaine-homocysteine methyltransferase is a zinc metalloenzyme.", "journal": "Arch. Biochem. Biophys.", "date": "1998", "authors": "Millian NS, Garrow TA", "evidence": [ { "database": "UniProtKB", "id": "Q93088", "url": "https://www.uniprot.org/uniprot/Q93088" } ], "reference": [ { "type": "PubMed", "id": "9681996", "url": "https://glygen.org/publication/PubMed/9681996" } ] } ], "pathway": [ { "id": "hsa:635", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:635", "resource": "KEGG Pathway" }, { "id": "R-HSA-1614635", "name": "Sulfur amino acid metabolism", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1614635", "resource": "Reactome", "description": "Sulfur amino acid metabolism" }, { "id": "R-HSA-6798163", "name": "Choline catabolism", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6798163", "resource": "Reactome", "description": "Choline catabolism" } ], "orthologs": [ { "uniprot_canonical_ac": "O09171-1", "protein_name": "Betaine--homocysteine S-methyltransferase 1", "gene_name": "Bhmt", "tax_id": 10116, "organism": "Rattus 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"MAPVAGKKAKKGILERLNAGEVVIGDGGFVFALEKRGYVKAGPWTPEAAVEHPEAVRQLHREFLRAGSNVMQTFTFYASEDKLENRGNYVAEKISGQKVNEAACDIARQVADEGDALVAGGVSQTPSYLSCKSEVEVKKIFRQQLEVFMKKNVDFLIAEYFEHVEEAVWAVEALKASGKPVAATMCIGPEGDLHGVPPGECAVRLVKAGASIVGVNCHFDPSVSLQTVKLMKEGLEAARLKAYLMSQPLAYHTPDCGKQGFIDLPEFPFGLEPRVATRWDIQKYAREAYNLGVRYIGGCCGFEPYHIRAIAEELAPERGFLPPASEKHGSWGSGLDMHTKPWIRARARKEYWQNLRIASGRPYNPSMSRPDAWGVTKGAAELMQQKEATTEQQLRELFEKQKFKSAQ", "length": 407 }, "evidence": [ { "id": "45226942", "url": "http://www.informatics.jax.org/homology/45226942", "database": "MGI" }, { "id": "Q93088", "url": "https://omabrowser.org/oma/group/Q93088/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 3, "go_terms": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q93088", "url": "https://www.uniprot.org/uniprot/Q93088" } ], "pmid": "" }, { "name": "cytosol", 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"S-methyltransferase activity", "id": "GO:0008172", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008172", "evidence": [ { "database": "UniProtKB", "id": "Q93088", "url": "https://www.uniprot.org/uniprot/Q93088" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 8, "go_terms": [ { "name": "protein methylation", "id": "GO:0006479", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006479", "evidence": [ { "database": "UniProtKB", "id": "Q93088", "url": "https://www.uniprot.org/uniprot/Q93088" } ], "pmid": "" }, { "name": "amino-acid betaine metabolic process", "id": "GO:0006577", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006577", "evidence": [ { "database": "UniProtKB", "id": "Q93088", "url": "https://www.uniprot.org/uniprot/Q93088" } ], "pmid": "" }, { "name": "amino-acid betaine catabolic process", "id": "GO:0006579", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006579", "evidence": [ { "database": "UniProtKB", "id": "Q93088", "url": "https://www.uniprot.org/uniprot/Q93088" } ], "pmid": "" }, { "name": "regulation of homocysteine metabolic process", "id": "GO:0050666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050666", "evidence": [ { "database": "UniProtKB", "id": "Q93088", "url": "https://www.uniprot.org/uniprot/Q93088" } ], "pmid": "" }, { "name": "L-methionine salvage", "id": "GO:0071267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071267", "evidence": [ { "database": "UniProtKB", "id": "Q93088", "url": "https://www.uniprot.org/uniprot/Q93088" } ], "pmid": "" }, { "name": "'de novo' L-methionine biosynthetic process", "id": "GO:0071266", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071266", "evidence": [ { "database": "UniProtKB", "id": "Q93088", "url": "https://www.uniprot.org/uniprot/Q93088" } ], "pmid": "" }, { "name": "methylation", "id": "GO:0032259", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032259", "evidence": [ { "database": "UniProtKB", "id": "Q93088", "url": "https://www.uniprot.org/uniprot/Q93088" } ], "pmid": "" }, { "name": "methionine biosynthetic process", "id": "GO:0009086", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009086", "evidence": [ { "database": "UniProtKB", "id": "Q93088", "url": "https://www.uniprot.org/uniprot/Q93088" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "22336", "name": "", "equation": "glycine betaine + L-homocysteine = L-methionine + N,N-dimethylglycine", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O09171-1", "Q93088-1", "O35490-1" ], "evidence": [ { "id": "22336", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/22336" } ] }, { "id": "R-HSA-1614654", "name": "BHMT tetramer transfers CH3 group from BET to HCYS to form DMGLY", "equation": "", "summary": "Remethylation of homocysteine (HCYS) to methionine (L-Met) can also proceed by using betaine (BET) as a methyl donor, which is oxidised to dimethylglycine (DMGLY). This reaction is also part of choline catabolism, thereby providing a link to folate-dependent, one-carbon metabolism (Li et al. 2008).", "cellular_location": "cytosol", "input_participant_list": [ "R-ALL-352015" ], "output_participant_list": [ "R-ALL-1614585" ], "enzyme_list": [ "Q93088-1" ], "evidence": [ { "id": "R-HSA-1614654", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1614654" } ] } ], "reaction_participants": [ { "participant_id": "R-ALL-1614585", "participant_name": "DMGLY [cytosol]", "crossref": [ { "id": "58251", "database": "ChEBI", "url": "" }, { "id": "000000895466", "database": "ZINC", "url": "" }, { "id": "58251", "database": "ChEBI", "url": "" }, { "id": "000000895466", "database": "ZINC", "url": "" }, { "id": "58251", "database": "ChEBI", "url": "" }, { "id": "000000895466", "database": "ZINC", "url": "" } ] }, { "participant_id": "R-ALL-352015", "participant_name": "BET [cytosol]", "crossref": [ { "id": "000001532728", "database": 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