{ "uniprot_canonical_ac": "P11586-1", "uniprot_ac": "P11586", "uniprot_id": "C1TC_HUMAN", "mass": { "chemical_mass": 101531.0, "monoisotopic_mass": 101531.0 }, "refseq": { "ac": "NP_005947", "name": "C-1-tetrahydrofolate synthase, cytoplasmic isoform 1", "summary": "This gene encodes a protein that possesses three distinct enzymatic activities, 5,10-methylenetetrahydrofolate dehydrogenase, 5,10-methenyltetrahydrofolate cyclohydrolase and 10-formyltetrahydrofolate synthetase. Each of these activities catalyzes one of three sequential reactions in the interconversion of 1-carbon derivatives of tetrahydrofolate, which are substrates for methionine, thymidylate, and de novo purine syntheses. The trifunctional enzymatic activities are conferred by two major domains, an aminoterminal portion containing the dehydrogenase and cyclohydrolase activities and a larger synthetase domain. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005947" }, "gene_names": [ { "name": "MTHFD1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P11586", "id": "P11586" }, { "name": "CIMAH; MTHFC; MTHFD", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005947", "id": "NP_005947" }, { "name": "MTHFC", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P11586", "id": "P11586" }, { "name": "MTHFD1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005947", "id": "NP_005947" }, { "name": "MTHFD", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P11586", "id": "P11586" } ], "protein_names": [ { "name": "C-1-tetrahydrofolate synthase, cytoplasmic", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P11586" }, { "name": "5,10-methylenetetrahydrofolate dehydrogenase, 5,10-methylenetetrahydrofolate cyclohydrolase, 10-formyltetrahydrofolate synthetase; cytoplasmic C-1-tetrahydrofolate synthase; C1-THF synthase; C-1-tetrahydrofolate synthase, cytoplasmic; epididymis secretory sperm binding protein; methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005947", "id": "NP_005947" }, { "name": "C-1-tetrahydrofolate synthase, cytoplasmic isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005947", "id": "NP_005947" }, { "name": "C1-THF synthase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P11586" }, { "name": "Epididymis secretory sperm binding protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P11586" } ], "function": [ { "annotation": "Association Between MTHFD1 1958G > A Variant and non-Syndromic Cleft lip and Palate: An Updated Meta-Analysis.", "evidence": [ { "database": "RefSeq", "id": "NP_005947", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005947" }, { "database": "PubMed", "id": "34904448", "url": "https://glygen.org/publication/PubMed/34904448" } ] }, { "annotation": "Association of MTHFD1 gene polymorphisms and maternal smoking with risk of congenital heart disease: a hospital-based case-control study. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_005947", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005947" }, { "database": "PubMed", "id": "35100977", "url": "https://glygen.org/publication/PubMed/35100977" } ] }, { "annotation": "Orthogonal genome-wide screens of bat cells identify MTHFD1 as a target of broad antiviral therapy.", "evidence": [ { "database": "RefSeq", "id": "NP_005947", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005947" }, { "database": "PubMed", "id": "34544865", "url": "https://glygen.org/publication/PubMed/34544865" } ] }, { "annotation": "The negative effect of G1958A polymorphism on MTHFD1 protein stability and HCC growth.", "evidence": [ { "database": "RefSeq", "id": "NP_005947", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005947" }, { "database": "PubMed", "id": "36913067", "url": "https://glygen.org/publication/PubMed/36913067" } ] }, { "annotation": "This gene encodes a protein that possesses three distinct enzymatic activities, 5,10-methylenetetrahydrofolate dehydrogenase, 5,10-methenyltetrahydrofolate cyclohydrolase and 10-formyltetrahydrofolate synthetase. Each of these activities catalyzes one of three sequential reactions in the interconversion of 1-carbon derivatives of tetrahydrofolate, which are substrates for methionine, thymidylate, and de novo purine syntheses. The trifunctional enzymatic activities are conferred by two major domains, an aminoterminal portion containing the dehydrogenase and cyclohydrolase activities and a larger synthetase domain. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_005947", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005947" } ] }, { "annotation": "Trifunctional enzyme that catalyzes the interconversion of three forms of one-carbon-substituted tetrahydrofolate: (6R)-5,10-methylene-5,6,7,8-tetrahydrofolate, 5,10-methenyltetrahydrofolate and (6S)-10-formyltetrahydrofolate (PubMed:1881876, PubMed:10828945, PubMed:18767138). These derivatives of tetrahydrofolate are differentially required in nucleotide and amino acid biosynthesis, (6S)-10-formyltetrahydrofolate being required for purine biosynthesis while (6R)-5,10-methylene-5,6,7,8-tetrahydrofolate is used for serine and methionine biosynthesis for instance (PubMed:25633902, PubMed:18767138).", "evidence": [ { "database": "UniProtKB", "id": "P11586", "url": "https://www.uniprot.org/uniprot/P11586#function" }, { "database": "PubMed", "id": "25633902", "url": "https://glygen.org/publication/PubMed/25633902" }, { "database": "PubMed", "id": "10828945", "url": "https://glygen.org/publication/PubMed/10828945" }, { "database": "PubMed", "id": "18767138", "url": "https://glygen.org/publication/PubMed/18767138" }, { "database": "PubMed", "id": "1881876", "url": "https://glygen.org/publication/PubMed/1881876" } ] }, { "annotation": "[Association of maternal MTHFD1 and MTHFD2 gene polymorphisms with congenital heart disease in offspring].', trans 'MTHFD1MTHFD2.", "evidence": [ { "database": "RefSeq", "id": "NP_005947", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005947" }, { "database": "PubMed", "id": "35894196", "url": "https://glygen.org/publication/PubMed/35894196" } ] } ], "disease": [ { "disease_id": "DOID:0080074", "recommended_name": { "id": "DOID:0080074", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080074", "name": "neural tube defect", "description": "A physical disorder characterized by incomplete closure of the neural tube." }, "synonyms": [ { "id": "MONDO:0011120", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011120", "name": "neural tube defects, folate-sensitive", "description": "" }, { "id": "MONDO:0011120", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011120", "name": "neural tube defects, folate-sensitive", "description": "" }, { "id": "MONDO:0011120", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011120", "name": "NTD, folate-sensitive", "description": "" }, { "id": "MONDO:0011120", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011120", "name": "NTDFS", "description": "" }, { "id": "MONDO:0011120", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011120", "name": "neural tube defects, folate-sensitive, susceptibility to", "description": "" }, { "id": "MONDO:0011120", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011120", "name": "neural tube defects, susceptibility to", "description": "" }, { "id": "MONDO:0011120", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011120", "name": "spina bifida, folate-sensitive", "description": "" }, { "id": "MONDO:0010525", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010525", "name": "neural tube defects, X-linked", "description": "" }, { "id": "MONDO:0010525", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010525", "name": "neural tube defects, X-linked", "description": "" }, { "id": "MONDO:0010525", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010525", "name": "X-linked anencephaly/spina bifida", "description": "" }, { "id": "MONDO:0010525", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010525", "name": "anencephaly and spina bifida X-linked", "description": "" }, { "id": "MONDO:0010525", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010525", "name": "spina bifida, X-linked", "description": "" }, { "id": "MIM:601634", "resource": "MIM", "url": "https://www.omim.org/entry/601634", "name": "Neural tube defects, folate-sensitive", "description": "Neural tube defects, folate-sensitive" } ], "evidence": [ { "id": "601634", "database": "MIM", "url": "https://www.omim.org/entry/601634" } ] }, { "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": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. 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 large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "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": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "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", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "evidence": [ { "id": "114500", "database": "MIM", "url": "https://www.omim.org/entry/114500" } ] }, { "disease_id": "MONDO:0060611", "recommended_name": { "id": "MONDO:0060611", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0060611", "name": "combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia", "description": "" }, "synonyms": [ { "id": "MONDO:0060611", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0060611", "name": "combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia", "description": "" }, { "id": "MONDO:0060611", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0060611", "name": "CIMAH", "description": "" }, { "id": "MONDO:0060611", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0060611", "name": "methylenetetrahydrofolate dehydrogenase 1 deficiency", "description": "" }, { "id": "MIM:617780", "resource": "MIM", "url": "https://www.omim.org/entry/617780", "name": "Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia", "description": "Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia" } ], "evidence": [ { "id": "617780", "database": "MIM", "url": "https://www.omim.org/entry/617780" } ] } ], "snv": [], "mutagenesis": [ { "start_pos": 147, "end_pos": 147, "sequence_org": "C", "sequence_mut": "Q", "comment": "Reduced methylenetetrahydrofolate dehydrogenase (NADP+) activity by 50%. Reduced methenyltetrahydrofolate cyclohydrolase activity by 87%.", "evidence": [ { "database": "UniProtKB", "id": "P11586", "url": "https://www.uniprot.org/uniprot/P11586" }, { "database": "PubMed", "id": "10828945", "url": "https://glygen.org/publication/PubMed/10828945" } ] }, { "start_pos": 49, "end_pos": 49, "sequence_org": "S", "sequence_mut": "A", "comment": "No effect on methylenetetrahydrofolate dehydrogenase (NADP+) activity. No effect on methenyltetrahydrofolate cyclohydrolase activity. Decreased affinity for NADP.", "evidence": [ { "database": "UniProtKB", "id": "P11586", "url": "https://www.uniprot.org/uniprot/P11586" }, { "database": "PubMed", "id": "10828945", "url": "https://glygen.org/publication/PubMed/10828945" } ] }, { "start_pos": 49, "end_pos": 49, "sequence_org": "S", "sequence_mut": "Q", "comment": "Reduced methylenetetrahydrofolate dehydrogenase (NADP+) activity by 75%. Reduced methenyltetrahydrofolate cyclohydrolase activity by 99%. No effect on affinity for NADP and 5,10-methenyltetrahydrofolate.", "evidence": [ { "database": "UniProtKB", "id": "P11586", "url": "https://www.uniprot.org/uniprot/P11586" }, { "database": "PubMed", "id": "10828945", "url": "https://glygen.org/publication/PubMed/10828945" } ] }, { "start_pos": 52, "end_pos": 52, "sequence_org": "Y", "sequence_mut": "A", "comment": "Reduced methylenetetrahydrofolate dehydrogenase (NADP+) activity by 99%. Reduced methenyltetrahydrofolate cyclohydrolase activity by 70%. No effect on affinity for NADP and 5,10-methenyltetrahydrofolate.", "evidence": [ { "database": "UniProtKB", "id": "P11586", "url": "https://www.uniprot.org/uniprot/P11586" }, { "database": "PubMed", "id": "10828945", "url": "https://glygen.org/publication/PubMed/10828945" } ] }, { "start_pos": 52, "end_pos": 52, "sequence_org": "Y", "sequence_mut": "F", "comment": "Slightly reduced methylenetetrahydrofolate dehydrogenase (NADP+) activity. Slightly reduced methenyltetrahydrofolate cyclohydrolase activity. Decreased affinity for NADP and for 5,10-methenyltetrahydrofolate.", "evidence": [ { "database": "UniProtKB", "id": "P11586", "url": "https://www.uniprot.org/uniprot/P11586" }, { "database": "PubMed", "id": "10828945", "url": "https://glygen.org/publication/PubMed/10828945" } ] }, { "start_pos": 52, "end_pos": 52, "sequence_org": "Y", "sequence_mut": "S", "comment": "Reduced methylenetetrahydrofolate dehydrogenase (NADP+) activity by 99%. Reduced methenyltetrahydrofolate cyclohydrolase activity by 70%. No effect on affinity for NADP and 5,10-methenyltetrahydrofolate.", "evidence": [ { "database": "UniProtKB", "id": "P11586", "url": "https://www.uniprot.org/uniprot/P11586" }, { "database": "PubMed", "id": "10828945", "url": "https://glygen.org/publication/PubMed/10828945" } ] }, { "start_pos": 56, "end_pos": 56, "sequence_org": "K", "sequence_mut": "A", "comment": "Decreased methylenetetrahydrofolate dehydrogenase (NADP+) activity over 90%. Loss of methenyltetrahydrofolate cyclohydrolase activity.", "evidence": [ { "database": "UniProtKB", "id": "P11586", "url": "https://www.uniprot.org/uniprot/P11586" }, { "database": "PubMed", "id": "10828945", "url": "https://glygen.org/publication/PubMed/10828945" } ] }, { "start_pos": 56, "end_pos": 56, "sequence_org": "K", "sequence_mut": "E", "comment": "Moderate decrease of methylenetetrahydrofolate dehydrogenase (NADP+) activity. Loss of methenyltetrahydrofolate cyclohydrolase activity. Strongly decreased affinity for NADP. Increased affinity for 5,10-methenyltetrahydrofolate.", "evidence": [ { "database": "UniProtKB", "id": "P11586", "url": "https://www.uniprot.org/uniprot/P11586" }, { "database": "PubMed", "id": "10828945", "url": "https://glygen.org/publication/PubMed/10828945" } ] }, { "start_pos": 56, "end_pos": 56, "sequence_org": "K", "sequence_mut": "I", "comment": "Decreased methylenetetrahydrofolate dehydrogenase (NADP+) activity over 90%. Loss of methenyltetrahydrofolate cyclohydrolase activity.", "evidence": [ { "database": "UniProtKB", "id": "P11586", "url": "https://www.uniprot.org/uniprot/P11586" }, { "database": "PubMed", "id": "10828945", "url": "https://glygen.org/publication/PubMed/10828945" } ] }, { "start_pos": 56, "end_pos": 56, "sequence_org": "K", "sequence_mut": "M", "comment": "Moderate decrease of methylenetetrahydrofolate dehydrogenase (NADP+) activity. Loss of methenyltetrahydrofolate cyclohydrolase activity. Strongly decreased affinity for NADP. Increased affinity for 5,10-methenyltetrahydrofolate.", "evidence": [ { "database": "UniProtKB", "id": "P11586", "url": "https://www.uniprot.org/uniprot/P11586" }, { "database": "PubMed", "id": "10828945", "url": "https://glygen.org/publication/PubMed/10828945" } ] }, { "start_pos": 56, "end_pos": 56, "sequence_org": "K", "sequence_mut": "Q", "comment": "Moderate decrease of methylenetetrahydrofolate dehydrogenase (NADP+) activity. Loss of methenyltetrahydrofolate cyclohydrolase activity. Strongly decreased affinity for NADP. Increased affinity for 5,10-methenyltetrahydrofolate.", "evidence": [ { "database": "UniProtKB", "id": "P11586", "url": "https://www.uniprot.org/uniprot/P11586" }, { "database": "PubMed", "id": "10828945", "url": "https://glygen.org/publication/PubMed/10828945" } ] }, { "start_pos": 56, "end_pos": 56, "sequence_org": "K", "sequence_mut": "R", "comment": "Reduced methylenetetrahydrofolate dehydrogenase (NADP+) activity. 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"Protein" ] }, { "id": "A0A8V8TKR5", "url": "https://www.uniprot.org/uniprot/A0A8V8TKR5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8V8TKR5-1", "url": "https://www.uniprot.org/uniprot/A0A8V8TKR5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8V8TKS0", "url": "https://www.uniprot.org/uniprot/A0A8V8TKS0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8V8TKS0-1", "url": "https://www.uniprot.org/uniprot/A0A8V8TKS0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8V8TKT4", "url": "https://www.uniprot.org/uniprot/A0A8V8TKT4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8V8TKT4-1", "url": "https://www.uniprot.org/uniprot/A0A8V8TKT4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8V8TL46", "url": "https://www.uniprot.org/uniprot/A0A8V8TL46", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8V8TL46-1", "url": "https://www.uniprot.org/uniprot/A0A8V8TL46-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8V8TL50", "url": "https://www.uniprot.org/uniprot/A0A8V8TL50", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8V8TL50-1", "url": "https://www.uniprot.org/uniprot/A0A8V8TL50-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8V8TMA4", "url": "https://www.uniprot.org/uniprot/A0A8V8TMA4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8V8TMA4-1", "url": "https://www.uniprot.org/uniprot/A0A8V8TMA4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8V8TMA9", "url": "https://www.uniprot.org/uniprot/A0A8V8TMA9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8V8TMA9-1", "url": "https://www.uniprot.org/uniprot/A0A8V8TMA9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5H2F4", "url": "https://www.uniprot.org/uniprot/F5H2F4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5H2F4-1", "url": "https://www.uniprot.org/uniprot/F5H2F4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P11586", "url": "https://www.uniprot.org/uniprot/P11586", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P11586-1", "url": "https://www.uniprot.org/uniprot/P11586-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "V9GYY3", "url": "https://www.uniprot.org/uniprot/V9GYY3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "V9GYY3-1", "url": "https://www.uniprot.org/uniprot/V9GYY3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "V9GZ32", "url": "https://www.uniprot.org/uniprot/V9GZ32", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "V9GZ32-1", "url": "https://www.uniprot.org/uniprot/V9GZ32-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "V9GZ78", "url": "https://www.uniprot.org/uniprot/V9GZ78", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "V9GZ78-1", "url": "https://www.uniprot.org/uniprot/V9GZ78-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MAPAEILNGKEISAQIRARLKNQVTQLKEQVPGFTPRLAILQVGNRDDSNLYINVKLKAAEEIGIKATHIKLPRTTTESEVMKYITSLNEDSTVHGFLVQLPLDSENSINTEEVINAIAPEKDVDGLTSINAGKLARGDLNDCFIPCTPKGCLELIKETGVPIAGRHAVVVGRSKIVGAPMHDLLLWNNATVTTCHSKTAHLDEEVNKGDILVVATGQPEMVKGEWIKPGAIVIDCGINYVPDDKKPNGRKVVGDVAYDEAKERASFITPVPGGVGPMTVAMLMQSTVESAKRFLEKFKPGKWMIQYNNLNLKTPVPSDIDISRSCKPKPIGKLAREIGLLSEEVELYGETKAKVLLSALERLKHRPDGKYVVVTGITPTPLGEGKSTTTIGLVQALGAHLYQNVFACVRQPSQGPTFGIKGGAAGGGYSQVIPMEEFNLHLTGDIHAITAANNLVAAAIDARIFHELTQTDKALFNRLVPSVNGVRRFSDIQIRRLKRLGIEKTDPTTLTDEEINRFARLDIDPETITWQRVLDTNDRFLRKITIGQAPTEKGHTRTAQFDISVASEIMAVLALTTSLEDMRERLGKMVVASSKKGEPVSAEDLGVSGALTVLMKDAIKPNLMQTLEGTPVFVHAGPFANIAHGNSSIIADRIALKLVGPEGFVVTEAGFGADIGMEKFFNIKCRYSGLCPHVVVLVATVRALKMHGGGPTVTAGLPLPKAYIQENLELVEKGFSNLKKQIENARMFGIPVVVAVNAFKTDTESELDLISRLSREHGAFDAVKCTHWAEGGKGALALAQAVQRAAQAPSSFQLLYDLKLPVEDKIRIIAQKIYGADDIELLPEAQHKAEVYTKQGFGNLPICMAKTHLSLSHNPEQKGVPTGFILPIRDIRASVGAGFLYPLVGTMSTMPGLPTRPCFYDIDLDPETEQVNGLF", "length": 935, "header": "sp|P11586-1|C1TC_HUMAN Isoform 1 of C-1-tetrahydrofolate synthase, cytoplasmic OS=Homo sapiens OX=9606 GN=MTHFD1 PE=1 SV=4 CANONICAL=P11586-1" }, "isoforms": [ { "isoform_ac": "A0A494C1T2-1", "url": "", "sequence": { "sequence": "XAYDEAKERASFITPVPGGVGPMTVAMLMQSTVESAKRFLEKFKPGKWMIQYNNLNLKTPVPSDIDISRSCKPKPIGKLAREIGLLSEEVELYGETKAKVLLSALERLKHRPDGKYVVVTGITPTPLGEGKSTTTIGLVQALGAHLYQNVFACVRQPSQGPTFGIKGGAAGGGYSQVIPMEEFNLHLTGDIHAITAANNLVAAAIDARIFHELTQTDKALFNRLVPSVNGVRRFSDIQIRRLKRLGIEKTDPTTLTDEEINRFARLDIDPETITWQRVLDTNDRFLRKITIGQAPTEKGHTRTAQFDISVASEIMAVLALTTSLEDMRERLGKMVVASSKKGEPVSAEDLGVSGALTVLMKDAIKPNLMQTLEGTPVFVHAGPFANIAHGNSSIIADRIALKLVGPEGFVVTEAGFGADIGMEKFFNIKCRYSGLCPHVVVLVATVRALKMHGGGPTVTAGLPLPKAYIQENLELVEKGFSNLKKQIENARMFGIPVVVAVNAFKTDTESELDLISRLSREHGAFDAVKCTHWAEGGKGALALAQAVQRAAQAPSSFQLLYDLKGFGNLPICMAKTHLSLSHNPEQKGVPTGFILPIRDIRASVGAGFLYPLVGTMSTMPGLPTRPCFYDIDLDPETEQVNGLF", "length": 644, "header": "tr|A0A494C1T2-1|C1TC_HUMAN Computationally mapped isoform of C-1-tetrahydrofolate synthase, cytoplasmic OS=Homo sapiens OX=9606 GN=MTHFD1 PE=1 SV=1 CANONICAL=P11586-1" }, "locus": { "chromosome": "14", "start_pos": 64458302, "end_pos": 64424844, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000652509.1", "url": "https://www.ensembl.org/id/ENST00000652509.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000499176.1", "url": "https://www.ensembl.org/id/ENSP00000499176.1" } ] } }, { "isoform_ac": "A0A8C8UXK2-1", "url": "", "sequence": { "sequence": "MAPAEILNGKEISAQIRARLKNQVTQLKEQVPGFTPRLAILQVGNRDDSNLYINVKLKAAEEIGIKATHIKLPRTTTESEVMKYITSLNEDSTVHGFLVQLPLDSENSINTEEVINAIAPEKDVDGLTSINAGKLARGDLNDCFIPCTPKGCLELIKETGK", "length": 161, "header": "tr|A0A8C8UXK2-1|C1TC_HUMAN Computationally mapped isoform of C-1-tetrahydrofolate synthase, cytoplasmic OS=Homo sapiens OX=9606 GN=MTHFD1 PE=1 SV=1 CANONICAL=P11586-1" }, "locus": { "chromosome": "14", "start_pos": 64419818, "end_pos": 64388428, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000555709.7", "url": "https://www.ensembl.org/id/ENST00000555709.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000450560.3", "url": "https://www.ensembl.org/id/ENSP00000450560.3" } ] } }, { "isoform_ac": "A0A8V8TKR5-1", "url": "", "sequence": { "sequence": "MAPAEILNGKEISAQIRARLKNQVTQLKEQVPGFTPRLAILQVGNRDDSNLYINVKLKAAEEIGIKATHIKLPRTTTESEVMKYITSLNEDSTVHGFLVQLPLDSENSINTEEVINAIAPEKDVDGLTSINAGKLARGDLNDCFIPCTPKGCLELIKETGVPIAGRHAVVVGRSKIVGAPMHDLLLWNNATVTTCHSKTAHLDEEVNKGDILVVATGQPEMVKGEWIKPGAIVIDCGINYVPDDKKPNGRKVVGDVAYDEAKERASFITPVPGGVGPMTVAMLMQSTVESAKRFLEKFKPGKWMIQYNNLNLKTPVPSDIDISRSCKPKPIGKLAREIGLLSEEVELYGETKAKVLLSALERLKHRPDGKYVVVTGITPTPLGEGKSTTTIGLVQALGAHLYQNVFACVRQPSQGPTFGIKGGAAGGGYSQVIPMEEFNLHLTGDIHAITAANNLVAAAIDARIFHELTQTDKALFNRLVPSVNGVRRFSDIQIRRLKRLGIEKTDPTTLTDEEINRFARLDIDPETITWQRVLDTNDRFLRKITIGQAPTEKGHTRTAQFDISVASEIMAVLALTTSLEDMRERLGKMVVASSKKGEPVSAEDLGVSGALTVLMKDAIKPNLMQTLE", "length": 628, "header": "tr|A0A8V8TKR5-1|C1TC_HUMAN Computationally mapped isoform of C-1-tetrahydrofolate synthase, cytoplasmic OS=Homo sapiens OX=9606 GN=MTHFD1 PE=1 SV=1 CANONICAL=P11586-1" }, "locus": { "chromosome": "14", "start_pos": 64441453, "end_pos": 64388428, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000697169.1", "url": "https://www.ensembl.org/id/ENST00000697169.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000513157.1", "url": "https://www.ensembl.org/id/ENSP00000513157.1" } ] } }, { "isoform_ac": "A0A8V8TKS0-1", "url": "", "sequence": { "sequence": "MKYITSLNEDSTVHGFLVQLPLDSENSINTEEVINAIAPEKDVDGLTSINAGKLARGDLNDCFIPCTPKGCLELIKETGVPIAGRHAVVVGRSKIVGAPMHDLLLWNNATVTTCHSKTAHLDEEVNKGDILVVATGQPEMVKGEWIKPGAIVIDCGINYVPDDKKPNGRKVVGDVAYDEAKERASFITPVPGGVGPMTVAMLMQSTVESAKRFLEKFKPGKWMIQYNNLNLKTPVPSDIDISRSCKPKPIGKLAREIGLLSEEVELYGETKAKVLLSALERLKHRPDGKYVVVTGITPTPLGEGKSTTTIGLVQALGAHLYQNVFACVRQPSQGPTFGIKGGAAGGGYSQVIPMEEFNLHLTGDIHAITAANNLVAAAIDARIFHELTQTDKALFNRLVPSVNGVRRFSDIQIRRLKRLGIEKTDPTTLTDEEINRFARLDIDPETITWQRVLDTNDRFLRKITIGQAPTEKGHTRTAQFDISVASEIMAVLALTTSLEDMRERLGKMVVASSKKGEPVSAEDLGVSGALTVLMKDAIKPNLMQTLEGTPVFVHAGPFANIAHGNSSIIADRIALKLVGPEGFVVTEAGFGADIGMEKFFNIKCRYSGLCPHVVVLVATVRALKMHGGGPTVTAGLPLPKAYIQENLELVEKGFSNLKKQIENARMFGIPVVVAVNAFNSQLRIKSGSLHRRSMEQMTLNYFPKLNTKLKSTRSRALGISPSAWLKHTCLCLTTQSKKVSLQASFCPFATSAPALGLVFCTP", "length": 762, "header": "tr|A0A8V8TKS0-1|A0A8V8TKS0_HUMAN Computationally mapped isoform of C-1-tetrahydrofolate synthase, cytoplasmic OS=Homo sapiens OX=9606 GN=MTHFD1 PE=1 SV=1 CANONICAL=P11586-1" }, "locus": { "chromosome": "14", "start_pos": 64454864, "end_pos": 64415361, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000697176.1", "url": "https://www.ensembl.org/id/ENST00000697176.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000513162.1", "url": "https://www.ensembl.org/id/ENSP00000513162.1" } ] } }, { "isoform_ac": "A0A8V8TKT4-1", "url": "", "sequence": { "sequence": "MAPAEILNGKEISAQIRARLKNQVTQLKEQVPGFTPRLAILQVGNRDDSNLYINVKLKAAEEIGIKATHIKLPRTTTESEVMKYITSLNEDSTVHGFLVQLPLDSENSINTEEVINAIAPEKDVDGLTSINAGKLARGDLNDCFIPCTPKGCLELIKETGVPIAGRHAVVVGRSKIVGAPMHDLLLWNNATVTTCHSKTAHLDEEVNKGDILVVATGQPEMVKGEWIKPGAIVIDCGINYVPDDKKPNGRKVVGDVAYDEAKERASFITPVPGGVGPMTVAMLMQSTVESAKRFLEKFKPGKWMIQYNNLNLKTPVPSDIDISRSCKPKPIGKLAREIGLLSEEVELYGETKAKVLLSALERLKHRPDGKYVVVTGITPTPLGEGKSTTTIGLVQALGAHLYQNVFACVRQPSQGPTFGIKGGAAGGGYSQVIPMEEFNLHLTGDIHAITAANNLVAAAIDARIFHELTQTDKALFNRLVPSVNGVRRFSDIQIRRLKRLGIEKTDPTTLTDEEINRFARLDIDPETITWQRVLDTNDRFLRKITIGQAPTEKGHTRTAQFDISVASEIMAVLALTTSLEDMRERLGKMVVASSKKGEPVSAEDLGVSGALTVLMKDAIKPNLMQTLEGTPVFVHAGPFANIAHGNSSIIADRIALKLVGPEGFVVTEAGFGADIGMEKFFNIKCRYSGLCPHVVVLVATVRALKMHGGGPTVTAGLPLPKAYIQENLELVEKGFSNLKKQIENARMFGIPVVVAVNAFKTDTESELDLISRLSREHGAFDAVKCTHWAEGGKGALALAQAVQRAAQAPSSFQLLYDLKLPVEDKIRIIAQKIYGADDIELLPEAQHKAEVYTKQVDVWALGISPSAWLKHTCLCLTTQSKKVSLQASFCPFATSAPALGLVFCTP", "length": 906, "header": "tr|A0A8V8TKT4-1|C1TC_HUMAN Computationally mapped isoform of C-1-tetrahydrofolate synthase, cytoplasmic OS=Homo sapiens OX=9606 GN=MTHFD1 PE=1 SV=1 CANONICAL=P11586-1" }, "locus": { "chromosome": "14", "start_pos": 64454864, "end_pos": 64388428, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000697171.1", "url": "https://www.ensembl.org/id/ENST00000697171.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000513158.1", "url": "https://www.ensembl.org/id/ENSP00000513158.1" } ] } }, { "isoform_ac": "A0A8V8TL46-1", "url": "", "sequence": { "sequence": "MAPAEILNGKEISAQIRARLKNQVTQLKEQVPGFTPRLAILQVGNRDDSNLYINVKLKAAEEIGIKATHIKLPRTTTESEVMKYITSLNEDSTVHGFLVQLPLDSENSINTEEVINAIAPEKDVDGLTSINAGKLARGDLNDCFIPCTPKGCLELIKETGVPIAGRHAVVVGRSKIVGAPMHDLLLWNNATVTTCHSKTAHLDEEVNKGDILVVATGQPEMVKGEWIKPGAIVIDCGINYVPDDKKPNGRKVVGDVAYDEAKERASFITPVPGGVGPMTVAMLMQSTVESAKRFLEKFKPGKWMIQYNNLNLKTPVPSDIDISRSCKPKPIGKLAREIGLLSEEVELYGETKAKVLLSALERLKHRPDGKYVVVTGWRCRRRLLPGHSYGRV", "length": 392, "header": "tr|A0A8V8TL46-1|A0A8V8TL46_HUMAN Computationally mapped isoform of C-1-tetrahydrofolate synthase, cytoplasmic OS=Homo sapiens OX=9606 GN=MTHFD1 PE=1 SV=1 CANONICAL=P11586-1" }, "locus": { "chromosome": "14", "start_pos": 64431533, "end_pos": 64388428, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000697167.1", "url": "https://www.ensembl.org/id/ENST00000697167.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000513155.1", "url": "https://www.ensembl.org/id/ENSP00000513155.1" } ] } }, { "isoform_ac": "A0A8V8TL50-1", "url": "", "sequence": { "sequence": "MAPAEILNGKEISAQIRARLKNQVTQLKEQVPGFTPRLAILQVGNRDDSNLYINVKLKAAEEIGIKATHIKLPRTTTESEVMKYITSLNEDSTVHGFLVQLPLDSENSINTEEVINAIAPEKDVDGLTSINAGKLARGDLNDCFIPCTPKGCLELIKETDDKKPNGRKVVGDVAYDEAKERASFITPVPGGVGPMTVAMLMQSTVESAKRFLEKFKPGKWMIQYNNLNLKTPVPSDIDISRSCKPKPIGKLAREIGLLSEEVELYGETKAKVLLSALERLKHRPDGKYVVVTGITPTPLGEGKSTTTIGLVQALGAHLYQNVFACVRQPSQGPTFGIKGGAAGGGYSQVIPMEEFNLHLTGDIHAITAANNLVAAAIDARIFHELTQTDKALFNRLVPSVNGVRRFSDIQIRRLKRLGIEKTDPTTLTDEEINRFARLDIDPETITWQRVLDTNDRFLRKITIGQAPTEKGHTRTAQFDISVASEIMAVLALTTSLEDMRERLGKMVVASSKKGEPVSAEDLGVSGALTVLMKDAIKPNLMQTLEGTPVFVHAGPFANIAHGNSSIIADRIALKLVGPEGFVVTEAGFGADIGMEKFFNIKCRYSGLCPHVVVLVATVRALKMHGGGPTVTAGLPLPKAYIQENLELVEKGFSNLKKQIENARMFGIPVVVAVNAFKTDTESELDLISRLSREHGAFDAVKCTHWAEGGKGALALAQAVQRAAQAPSSFQLLYDLKLPVEDKIRIIAQKIYGADDIELLPEAQHKAEVYTKQGFGNLPICMAKTHLSLSHNPEQKGVPTGFILPIRDIRASVGAGFLYPLVGTMSTMPGLPTRPCFYDIDLDPETEQVNGLF", "length": 852, "header": "tr|A0A8V8TL50-1|C1TC_HUMAN Computationally mapped isoform of C-1-tetrahydrofolate synthase, cytoplasmic OS=Homo sapiens OX=9606 GN=MTHFD1 PE=1 SV=1 CANONICAL=P11586-1" }, "locus": { "chromosome": "14", "start_pos": 64458300, "end_pos": 64388428, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000697174.1", "url": "https://www.ensembl.org/id/ENST00000697174.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000513160.1", "url": "https://www.ensembl.org/id/ENSP00000513160.1" } ] } }, { "isoform_ac": "A0A8V8TMA4-1", "url": "", "sequence": { "sequence": "MAPAEILNGKEISAQIRARLKNQVTQLKEQVPGFTPRLAILQVGNRDDSNLYINVKLKAAEEIGIKATHIKLPRTTTESEVMKYITSLNEDSTVHGFLVQLPLDSENSINTEEVINAIAPEKDVDGLTSINAGKLARGDLNDCFIPCTPKGCLELIKETGVPIAGRHAVVVGRSKIVGAPMHDLLLWNNATVTTCHSKTAHLDEEVNKGDILVVATGQPEMVKGEWIKPGAIVIDCGINYVPDDKKPNGRKVVGDVAYDEAKERASFITPVPGGVGPMTVAMLMQSTVESAKRFLEKFKPGKWMIQYNNLNLKTPVPSDIDISRSCKPKPIGKLAREIGLLSEEVELYGETKAKVLLSALERLKHRPDGKYVVVTGITPTPLGEGKSTTTIGLVQALGAHLYQNVFACVRQPSQGPTFGIKGGAAGGGYSQVIPMEEFNLHLTGDIHAITAANNLVAAAIDARIFHELTQTDKALFNRLVPSVNGVRRFSDIQIRRLKRLGIEKTDPTTLTDEEINRFARLDIDPETITWQRVLDTNDRFLRKITIGQAPTEKGHTRTAQFDISVASEIMAVLALTTSLEDMRERLGKMVVASSKKGEPVSAEDLGVSGALTVLMKDAIKPNLMQTLEGTPVFVHAGPFANIAHGNSSIIADRIALKLVGPEGFVVTEAGFGADIGMEKFFNIKCRYSGLCPHVVVLVATVRALKMHGGGPTVTAGLPLPKAYIQENLELVEKGFSNLKKQIENARMFGIPVVVAVNAFKTDTESELDLISRLSREHGAFDAVKCTHWAEGGKGALALAQAVQRAAQAPSSFQLLYDLKLPVEDKIRIIAQKIYGADDIELLPEAQHKAEVYTKQMSTMPGLPTRPCFYDIDLDPETEQVNGLF", "length": 884, "header": "tr|A0A8V8TMA4-1|C1TC_HUMAN Computationally mapped isoform of C-1-tetrahydrofolate synthase, cytoplasmic OS=Homo sapiens OX=9606 GN=MTHFD1 PE=1 SV=1 CANONICAL=P11586-1" }, "locus": { "chromosome": "14", "start_pos": 64458300, "end_pos": 64388428, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000697168.1", "url": "https://www.ensembl.org/id/ENST00000697168.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000513156.1", "url": "https://www.ensembl.org/id/ENSP00000513156.1" } ] } }, { "isoform_ac": "A0A8V8TMA9-1", "url": "", "sequence": { "sequence": "MKYITSLNEDSTVHGFLVQLPLDSENSINTEEVINAIAPEKDVDGLTSINAGKLARGDLNDCFIPCTPKGCLELIKETGVPIAGRHAVVVGRSKIVGAPMHDLLLWNNATVTTCHSKTAHLDEEVNKGDILVVATGQPEMVKGEWIKPGAIVIDCGINYVPDDKKPNGRKVVGDVAYDEAKERASFITPVPGGVGPMTVAMLMQSTVESAKRFLEKFKPGKWMIQYNNLNLKTPVPSDIDISRSCKPKPIGKLAREIGLLSEEVELYGETKAKVLLSALERLKHRPDGKYVVVTGITPTPLGEGKSTTTIGLVQALGAHLYQNVFACVRQPSQGPTFGIKAPAVTVGHCTGILWDG", "length": 356, "header": "tr|A0A8V8TMA9-1|C1TC_HUMAN Computationally mapped isoform of C-1-tetrahydrofolate synthase, cytoplasmic OS=Homo sapiens OX=9606 GN=MTHFD1 PE=1 SV=1 CANONICAL=P11586-1" }, "locus": { "chromosome": "14", "start_pos": 64427698, "end_pos": 64415361, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000697175.1", "url": "https://www.ensembl.org/id/ENST00000697175.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000513161.1", "url": "https://www.ensembl.org/id/ENSP00000513161.1" } ] } }, { "isoform_ac": "F5H2F4-1", "url": "", "sequence": { "sequence": "MAPAEILNGKEISAQIRARLKNQVTQLKEQVPGFTPRLAILQVGNRDDSNLYINVKLKAAEEIGIKATHIKLPRTTTESEVMKYITSLNEDSTVHGFLVQLPLDSENSINTEEVINAIAPEKDVDGLTSINAGKLARGDLNDCFIPCTPKGCLELIKETGVPIAGRHAVVVGRSKIVGAPMHDLLLWNNATVTTCHSKTAHLDEEVNKGDILVVATGQPEMVKGEWIKPGAIVIDCGINYVPDDKKPNGRKVVGDVAYDEAKERASFITPVPGGVGPMTVAMLMQSTVESAKRFLEKFKPGKWMIQYNNLNLKTPVPSDIDISRSCKPKPIGKLAREIGLLSEEVELYGETKAKVLLSALERLKHRPDGKYVVVTGITPTPLGEGKSTTTIGLVQALGAHLYQNVFACVRQPSQGPTFGIKGGAAGGGYSQVIPMEEFNLHLTGDIHAITAANNLVAAAIDARIFHELTQTDKALFNRLVPSVNGVRRFSDIQIRRLKRLGIEKTDPTTLTDEEINRFARLDIDPETITWQRVLDTNDRFLRKITIGQAPTEKGHTRTAQFDISVASEIMAVLALTTSLEDMRERLGKMVVASSKKGEPVSAEDLGVSGALTVLMKDAIKPNLMQTLEGTPVFVHAGPFANIAHGNSSIIADRIALKLVGPEGFVVTEAGFGADIGMEKFFNIKCRYSGLCPHVVVLVATVRALKMHGGGPTVTAGLPLPKAYIQENLELVEKGFSNLKKQIENARMFGIPVVVAVNAFKTDTESELDLISRLSREHGAFDAVKCTHWAEGGKGALALAQAVQRAAQAPSSFQLLYDLKLPVEDKIRIIAQKIYGADDIELLPEAQHKAEVYTKQGFGNLPICMAKTHLSLSHNPEQKGVPTGFILPIRDIRASVGAGFLYPLVGTITIHLQEATLKVWPVSIQAHWELGSISKPREVSPCPEDLKLIVGVSPEVIFSLNSHHV", "length": 964, "header": "tr|F5H2F4-1|C1TC_HUMAN Computationally mapped isoform of C-1-tetrahydrofolate synthase, cytoplasmic OS=Homo sapiens OX=9606 GN=MTHFD1 PE=1 SV=2 CANONICAL=P11586-1" }, "locus": { "chromosome": "14", "start_pos": 64459932, "end_pos": 64388428, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000545908.6", "url": "https://www.ensembl.org/id/ENST00000545908.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000438588.2", "url": "https://www.ensembl.org/id/ENSP00000438588.2" } ] } }, { "isoform_ac": "P11586-1", "url": "", "sequence": { "sequence": "MAPAEILNGKEISAQIRARLKNQVTQLKEQVPGFTPRLAILQVGNRDDSNLYINVKLKAAEEIGIKATHIKLPRTTTESEVMKYITSLNEDSTVHGFLVQLPLDSENSINTEEVINAIAPEKDVDGLTSINAGKLARGDLNDCFIPCTPKGCLELIKETGVPIAGRHAVVVGRSKIVGAPMHDLLLWNNATVTTCHSKTAHLDEEVNKGDILVVATGQPEMVKGEWIKPGAIVIDCGINYVPDDKKPNGRKVVGDVAYDEAKERASFITPVPGGVGPMTVAMLMQSTVESAKRFLEKFKPGKWMIQYNNLNLKTPVPSDIDISRSCKPKPIGKLAREIGLLSEEVELYGETKAKVLLSALERLKHRPDGKYVVVTGITPTPLGEGKSTTTIGLVQALGAHLYQNVFACVRQPSQGPTFGIKGGAAGGGYSQVIPMEEFNLHLTGDIHAITAANNLVAAAIDARIFHELTQTDKALFNRLVPSVNGVRRFSDIQIRRLKRLGIEKTDPTTLTDEEINRFARLDIDPETITWQRVLDTNDRFLRKITIGQAPTEKGHTRTAQFDISVASEIMAVLALTTSLEDMRERLGKMVVASSKKGEPVSAEDLGVSGALTVLMKDAIKPNLMQTLEGTPVFVHAGPFANIAHGNSSIIADRIALKLVGPEGFVVTEAGFGADIGMEKFFNIKCRYSGLCPHVVVLVATVRALKMHGGGPTVTAGLPLPKAYIQENLELVEKGFSNLKKQIENARMFGIPVVVAVNAFKTDTESELDLISRLSREHGAFDAVKCTHWAEGGKGALALAQAVQRAAQAPSSFQLLYDLKLPVEDKIRIIAQKIYGADDIELLPEAQHKAEVYTKQGFGNLPICMAKTHLSLSHNPEQKGVPTGFILPIRDIRASVGAGFLYPLVGTMSTMPGLPTRPCFYDIDLDPETEQVNGLF", "length": 935, "header": "sp|P11586-1|C1TC_HUMAN Isoform 1 of C-1-tetrahydrofolate synthase, cytoplasmic OS=Homo sapiens OX=9606 GN=MTHFD1 PE=1 SV=4 CANONICAL=P11586-1" }, "locus": { "chromosome": "14", "start_pos": 64458300, "end_pos": 64388428, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000651537.1", "url": "https://www.ensembl.org/id/ENST00000651537.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000498511.1", "url": "https://www.ensembl.org/id/ENSP00000498511.1" } ] } }, { "isoform_ac": "V9GYY3-1", "url": "", "sequence": { "sequence": "MAPAEILNGKEISAQIRARLKNQVTQLKEQVPGFTPRLAILQVGNRDDSNLYINVKLKAAEEIGIKATHIKLPRTTTESEVMKYITSLNEDSTVHGFLVQLPLDSENSINTEEVINAIAPEKDVDGLTSINAGKLARGDLNDCFIPCTPKGCLELIKETGVPIAGRHAVVVGRSKIVGAPMHDLLLWNNATVTTCHSKTAHLDEEVNKGDILVVATGQPEMVKGEWIKPGAIVIDCGINYVPDDKKPNGRKVVGDVAYDEAKERASFITPVPGGVGPMTVAMLMQSTVESAKRFLEKFKPGKWMIQYNNLNLKTPVPSDIDISRSCKPKPIGKLAREIGLLSEEVELYGETKAKVLLSALERLKHRPDGKYVVVTGITPTPLGEGKSTTTIGLVQALGAHLYQNVFACVRQPSQGPTFGIKGGAAGGGYSQVIPMEEFNLHLTGDIHAITAANNLVAAAIDARIFHELTQTDKALFNRLVPSVNGVRRFSDIQIRRLKRLGIEKTDPTTLTDEEINRFARLDIDPETITWQRVLDTNDRFLRKITIGQAPTEKGHTRTAQFDISVASEIMAVLALTTSLEDMRERLGKMVVASSKKGEPVSAEDLGVSGALTVLMKDAIKPNLMQTLEGTPVFVHAGPFANIAHGNSSIIADRIALKLVGPEGFVVTEAGFGADIGMEKFFNIKCRYSGLCPHVVVLVATVRALKMHGGGPTVTAGLPLPKAYIQENLELVEKGFSNLKKQIENARMFGIPVVVAVNAFKTDTESELDLISRLSREHGAFDAVKCTHWAEGGKGALALAQAVQRAAQAPSSFQLLYDLKLPVEDKIRIIAQKIYGADDIELLPEAQHKAEVYTKQGFGNLPICMAKTHLSLSHNPEQKGVPTGFILPIRDIRASVGAGFLYPLVGTVSACCKGVVGASALLV", "length": 922, "header": "tr|V9GYY3-1|C1TC_HUMAN Computationally mapped isoform of C-1-tetrahydrofolate synthase, cytoplasmic OS=Homo sapiens OX=9606 GN=MTHFD1 PE=1 SV=2 CANONICAL=P11586-1" }, "locus": { "chromosome": "14", "start_pos": 64454923, "end_pos": 64388428, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000557370.3", "url": "https://www.ensembl.org/id/ENST00000557370.3" }, { "database": "Ensembl Peptide", "id": "ENSP00000477199.2", "url": "https://www.ensembl.org/id/ENSP00000477199.2" } ] } }, { "isoform_ac": "V9GZ32-1", "url": "", "sequence": { "sequence": "MKYITSLNEDSTVHGFLVQLPLD", "length": 23, "header": "tr|V9GZ32-1|V9GZ32_HUMAN Computationally mapped isoform of Methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 OS=Homo sapiens OX=9606 GN=MTHFD1 PE=1 SV=1 CANONICAL=P11586-1" }, "locus": { "chromosome": "14", "start_pos": 64415429, "end_pos": 64415361, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000554739.5", "url": "https://www.ensembl.org/id/ENST00000554739.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000477359.1", "url": "https://www.ensembl.org/id/ENSP00000477359.1" } ] } }, { "isoform_ac": "V9GZ78-1", "url": "", "sequence": { "sequence": "MKYITSLNEDSTVHGFLVQLPLDSENSINTEEVINAIAPEKDVDGLTSINAGKLARGDLNDCFIPCTPKGCLELIKETGVPIAGRHAVVVGRSKIVGAPMHDLLLWNNATVTTCHSKTAHLDEEVNKGDILVVATGQPEMVKGEWIKPGAIVIDCGINYVPDDKKPNGRKVVGDVAYDEAKERASFITPVPGGVGPMTVAMLMQSTVESAKRFLEKFKPGKWMIQYNNLNLKTPVPSDIDISRSCKPKPIGKLAREIGLLSEEVELYGETKAKVLLSALERLKHRPDGKYVVVTGITPTPLGEGKSTTTIGLVQALGAHLYQNVFACVRQPSQGPTFGIKGGAAGGGYSQVIPMEEFNLHLTGDIHAITAANNLVAAAIDARIFHELTQTDKALFNRLVPSVNGVRRFSDIQIRRLKRLGIEKTDPTTLTDEEINRFARLDIDPETITWQRVLDTNDRFLRKITIGQAPTEKGHTRTAQFDISVASEIMAVLALTTSLEDMRERLGKMVVASSKKGEPVSAEDLGVSGALTVLMKDAIKPNLMQTLEGTPVFVHAGPFANIAHGNSSIIADRIALKLVGPEGFVVTEAGFGADIGMEKFFNIKCRYSGLCPHVVVLVATVRALKMHGGGPTVTAGLPLPKAYIQENLELVEKGFSNLKKQIENARMFGIPVVVAVNAFKTDTESELDLISRLSREHGAFDAVKCTHWAEGGKGALALAQAVQRAAQAPSSFQLLYDLKLPVEDKIRIIAQKIYGADDIELLPEAQHKAEVYTKQGFGNLPICMAKTHLSLSHNPEQKGVPTGFILPIRDIRASVGAGFLYPLVGTMSTMPGLPTRPCFYDIDLDPETEQVNGLF", "length": 854, "header": "tr|V9GZ78-1|V9GZ78_HUMAN Computationally mapped isoform of C-1-tetrahydrofolate synthase, cytoplasmic OS=Homo sapiens OX=9606 GN=MTHFD1 PE=1 SV=2 CANONICAL=P11586-1" }, "locus": { "chromosome": "14", "start_pos": 64458300, "end_pos": 64415361, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000557539.2", "url": "https://www.ensembl.org/id/ENST00000557539.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000476468.2", "url": "https://www.ensembl.org/id/ENSP00000476468.2" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "P11586", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P11586" }, { "id": "16408927", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/16408927" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "18369606", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/18369606" }, { "id": "35138101", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35138101" }, { "id": "30397120", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30397120" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" }, { "id": "26853435", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26853435" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "32119511", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32119511" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" } ] } ], "phosphorylation": [ { "start_pos": 25, "end_pos": 25, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P11586", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11586" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr25" }, { "start_pos": 318, "end_pos": 318, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P11586", "url": "https://www.uniprot.org/uniprot/P11586" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "P11586", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11586" } ], "site_lbl": "Ser318" }, { "start_pos": 413, "end_pos": 413, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P11586", "url": "https://www.uniprot.org/uniprot/P11586" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "P11586", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11586" } ], "site_lbl": "Ser413" }, { "start_pos": 471, "end_pos": 471, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P11586", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11586" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr471" }, { "start_pos": 490, "end_pos": 490, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P11586", "url": "https://www.uniprot.org/uniprot/P11586" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "P11586", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11586" } ], "site_lbl": "Ser490" } ], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Structure and dynamics in solution of the complex of Lactobacillus casei dihydrofolate reductase with the new lipophilic antifolate drug trimetrexate.", "journal": "Protein science : a publication of the Protein Society", "date": "1999", "authors": "Polshakov VI, Birdsall B, Frenkiel TA, Gargaro AR, Feeney J", "evidence": [ { "database": "Reactome", "id": "R-HSA-196757", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196757" } ], "reference": [ { "type": "PubMed", "id": "10091649", "url": "https://glygen.org/publication/PubMed/10091649" } ] }, { "title": "Topological and functional analysis of the human reduced folate carrier by hemagglutinin epitope insertion.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Ferguson PL, Flintoff WF", "evidence": [ { "database": "Reactome", "id": "R-HSA-196757", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196757" } ], "reference": [ { "type": "PubMed", "id": "10347183", "url": "https://glygen.org/publication/PubMed/10347183" } ] }, { "title": "Structures of three inhibitor complexes provide insight into the reaction mechanism of the human methylenetetrahydrofolate dehydrogenase/cyclohydrolase.", "journal": "Biochemistry", "date": "2000", "authors": "Schmidt A, Wu H, MacKenzie RE, Chen VJ, Bewly JR, Ray JE, Toth JE, Cygler M", "evidence": [ { "database": "UniProtKB", "id": "P11586", "url": "https://www.uniprot.org/uniprot/P11586" } ], "reference": [ { "type": "PubMed", "id": "10828945", "url": "https://glygen.org/publication/PubMed/10828945" } ] }, { "title": "Retrovirally mediated complementation of the glyB phenotype. Cloning of a human gene encoding the carrier for entry of folates into mitochondria.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Titus SA, Moran RG", "evidence": [ { "database": "Reactome", "id": "R-HSA-196757", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196757" } ], "reference": [ { "type": "PubMed", "id": "10978331", "url": "https://glygen.org/publication/PubMed/10978331" } ] }, { "title": "A polymorphism, R653Q, in the trifunctional enzyme methylenetetrahydrofolate dehydrogenase/methenyltetrahydrofolate cyclohydrolase/formyltetrahydrofolate synthetase is a maternal genetic risk factor for neural tube defects: report of the Birth Defects Research Group.", "journal": "Am. J. Hum. Genet.", "date": "2002", "authors": "Brody L.C., Conley M., Cox C., Kirke P.N., McKeever M.P., Mills J.L., Molloy A.M., O'Leary V.B., Parle-McDermott A., Scott J.M., Swanson D.A.", "evidence": [ { "database": "UniProtKB", "id": "P11586", "url": "https://www.uniprot.org/uniprot/P11586" } ], "reference": [ { "type": "PubMed", "id": "12384833", "url": "https://glygen.org/publication/PubMed/12384833" } ] }, { "title": "Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides.", "journal": "Nat. Biotechnol.", "date": "2003", "authors": "Gevaert K, Goethals M, Martens L, Van Damme J, Staes A, Thomas GR, Vandekerckhove J", "evidence": [ { "database": "UniProtKB", "id": "P11586", "url": "https://www.uniprot.org/uniprot/P11586" } ], "reference": [ { "type": "PubMed", "id": "12665801", "url": "https://glygen.org/publication/PubMed/12665801" } ] }, { "title": "Human mitochondrial C1-tetrahydrofolate synthase: gene structure, tissue distribution of the mRNA, and immunolocalization in Chinese hamster ovary calls.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Prasannan P, Pike S, Peng K, Shane B, Appling DR", "evidence": [ { "database": "Reactome", "id": "R-HSA-196757", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196757" } ], "reference": [ { "type": "PubMed", "id": "12937168", "url": "https://glygen.org/publication/PubMed/12937168" } ] }, { "title": "Proteomic characterization of the human centrosome by protein correlation profiling.", "journal": "Nature", "date": "2003", "authors": "Mann M., Mortensen P., Nigg E.A., Andersen J.S., Mayor T., Wilkinson C.J.", "evidence": [ { "database": "UniProtKB", "id": "P11586", "url": "https://www.uniprot.org/uniprot/P11586" } ], "reference": [ { "type": "PubMed", "id": "14654843", "url": "https://glygen.org/publication/PubMed/14654843" } ] }, { "title": "Enzymatic characterization of human mitochondrial C1-tetrahydrofolate synthase.", "journal": "Archives of biochemistry and biophysics", "date": "2005", "authors": "Walkup AS, Appling DR", "evidence": [ { "database": "Reactome", "id": "R-HSA-196757", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196757" } ], "reference": [ { "type": "PubMed", "id": "16171773", "url": "https://glygen.org/publication/PubMed/16171773" } ] }, { "title": "Global identification of O-GlcNAc-modified proteins.", "journal": "Analytical chemistry", "date": "2006", "authors": "Nandi A, Sprung R, Barma DK, Zhao Y, Kim SC, Falck JR, Zhao Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "P11586", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P11586" } ], "reference": [ { "type": "PubMed", "id": "16408927", "url": "https://glygen.org/publication/PubMed/16408927" } ] }, { "title": "Confirmation of the R653Q polymorphism of the trifunctional C1-synthase enzyme as a maternal risk for neural tube defects in the Irish population.", "journal": "Eur. J. Hum. Genet.", "date": "2006", "authors": "Brody L.C., Pangilinan F., Cleary L., Conley M., Cox C., Kirke P.N., Mills J.L., Molloy A.M., O'Leary V.B., Parle-McDermott A., Scott J.M.", "evidence": [ { "database": "UniProtKB", "id": "P11586", "url": "https://www.uniprot.org/uniprot/P11586" } ], "reference": [ { "type": "PubMed", "id": "16552426", "url": "https://glygen.org/publication/PubMed/16552426" } ] }, { "title": "Search for low penetrance alleles for colorectal cancer through a scan of 1467 non-synonymous SNPs in 2575 cases and 2707 controls with validation by kin-cohort analysis of 14 704 first-degree relatives.", "journal": "Hum. Mol. Genet.", "date": "2006", "authors": "Houlston R.S., Tomlinson I., Johnson N., Bethke L., El Galta R., Fletcher O., Gray R., Penegar S., Peto J., Qureshi M., Rudd M.F., Sellick G.S., Webb E.L., Withey L., Wood W.", "evidence": [ { "database": "UniProtKB", "id": "P11586", "url": "https://www.uniprot.org/uniprot/P11586" } ], "reference": [ { "type": "PubMed", "id": "17000706", "url": "https://glygen.org/publication/PubMed/17000706" } ] }, { "title": "Identification of an intestinal folate transporter and the molecular basis for hereditary folate malabsorption.", "journal": "Cell", "date": "2006", "authors": "Qiu A, Jansen M, Sakaris A, Min SH, Chattopadhyay S, Tsai E, Sandoval C, Zhao R, Akabas MH, Goldman ID", "evidence": [ { "database": "Reactome", "id": "R-HSA-196757", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196757" } ], "reference": [ { "type": "PubMed", "id": "17129779", "url": "https://glygen.org/publication/PubMed/17129779" } ] }, { "title": "Pemetrexed: biochemical and cellular pharmacology, mechanisms, and clinical applications.", "journal": "Molecular cancer therapeutics", "date": "2007", "authors": "Chattopadhyay S, Moran RG, Goldman ID", "evidence": [ { "database": "Reactome", "id": "R-HSA-196757", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196757" } ], "reference": [ { "type": "PubMed", "id": "17308042", "url": "https://glygen.org/publication/PubMed/17308042" } ] }, { "title": "Identification of new O-GlcNAc modified proteins using a click-chemistry-based tagging.", "journal": "Analytical and bioanalytical chemistry", "date": "2008", "authors": "Gurcel C, Vercoutter-Edouart AS, Fonbonne C, Mortuaire M, Salvador A, Michalski JC, Lemoine J", "evidence": [ { "database": "O-GlcNAc Database", "id": "P11586", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P11586" } ], "reference": [ { "type": "PubMed", "id": "18369606", "url": "https://glygen.org/publication/PubMed/18369606" } ] }, { "title": "The MTHFD1 p.Arg653Gln variant alters enzyme function and increases risk for congenital heart defects.", "journal": "Hum. 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"https://www.ncbi.nlm.nih.gov/protein/NP_005947" } ], "reference": [ { "type": "PubMed", "id": "34904448", "url": "https://glygen.org/publication/PubMed/34904448" } ] }, { "title": "Association of MTHFD1 gene polymorphisms and maternal smoking with risk of congenital heart disease: a hospital-based case-control study.", "journal": "BMC pregnancy and childbirth", "date": "2022", "authors": "Song X, Li Q, Diao J, Li J, Li Y, Zhang S, Zhao L, Chen L, Wei J, Shu J, Liu Y, Sun M, Huang P, Wang T, Qin J", "evidence": [ { "database": "RefSeq", "id": "NP_005947", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005947" } ], "reference": [ { "type": "PubMed", "id": "35100977", "url": "https://glygen.org/publication/PubMed/35100977" } ] }, { "title": "Spatiotemporal Activation of Protein O-GlcNAcylation in Living Cells.", "journal": "Journal of the American Chemical Society", "date": "2022", "authors": "He J, Fan Z, Tian Y, Yang W, Zhou Y, Zhu Q, Zhang W, Qin W, Yi W", "evidence": [ { "database": "O-GlcNAc Database", "id": "P11586", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P11586" } ], "reference": [ { "type": "PubMed", "id": "35138101", "url": "https://glygen.org/publication/PubMed/35138101" } ] }, { "title": "[Association of maternal MTHFD1 and MTHFD2 gene polymorphisms with congenital heart disease in offspring].", "journal": "Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics", "date": "2022", "authors": "Chen Q, Huang P, Song XL, Liu YP, Sun MT, Wang TT, Zhang SM, Qin JB", "evidence": [ { "database": "RefSeq", "id": "NP_005947", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005947" } ], "reference": [ { "type": "PubMed", "id": "35894196", "url": "https://glygen.org/publication/PubMed/35894196" } ] }, { "title": "The negative effect of G1958A polymorphism on MTHFD1 protein stability and HCC growth.", "journal": "Cellular oncology (Dordrecht)", "date": "2023-03-13", "authors": "Rao Keqiang, Zheng Ke, Zhao Qin, He Jing, Zhou Bei, Hou Guofang, Sha Nannan, Wang Wang, Yan Man, Zhou Yue, Jin Yuting, Jiang Yuhui, Xia Qiang", "evidence": [ { "database": "RefSeq", "id": "NP_005947", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005947" } ], "reference": [ { "type": "PubMed", "id": "36913067", "url": "https://glygen.org/publication/PubMed/36913067" } ] }, { "title": "Extracellular arginine availability modulates eIF2\u03b1 O-GlcNAcylation and heme oxygenase 1 translation for cellular homeostasis.", "journal": "Journal of biomedical science", "date": "2023-05-22", "authors": "Hung Yu-Wen, Ouyang Ching, Ping Xiaoli, Qi Yue, Wang Yi-Chang, Kung Hsing-Jien, Ann David K", "evidence": [ { "database": "O-GlcNAc Database", "id": "P11586", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P11586" } ], "reference": [ { "type": "PubMed", "id": "37217939", "url": "https://glygen.org/publication/PubMed/37217939" } ] }, { "title": "Human liver methenyltetrahydrofolate synthetase: improved purification and increased affinity for folate polyglutamate substrates.", "journal": "Biochimica et biophysica acta", "date": "1987", "authors": "Bertrand R, MacKenzie RE, Jolivet J", "evidence": [ { "database": "Reactome", "id": "R-HSA-196757", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196757" } ], "reference": [ { "type": "PubMed", "id": "3801490", "url": "https://glygen.org/publication/PubMed/3801490" } ] }, { "title": "C1-Tetrahydrofolate synthase from rabbit liver. Structural and kinetic properties of the enzyme and its two domains.", "journal": "The Journal of biological chemistry", "date": "1985", "authors": "Villar E, Schuster B, Peterson D, Schirch V", "evidence": [ { "database": "Reactome", "id": "R-HSA-196757", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196757" } ], "reference": [ { "type": "PubMed", "id": "3871768", "url": "https://glygen.org/publication/PubMed/3871768" } ] }, { "title": "Studies of the role of a particulate folate-binding protein in the uptake of 5-methyltetrahydrofolate by cultured human KB cells.", "journal": "The Journal of biological chemistry", "date": "1985", "authors": "Antony AC, Kane MA, Portillo RM, Elwood PC, Kolhouse JF", "evidence": [ { "database": "Reactome", "id": "R-HSA-196757", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196757" } ], "reference": [ { "type": "PubMed", "id": "4066659", "url": "https://glygen.org/publication/PubMed/4066659" } ] }, { "title": "The functional human dihydrofolate reductase gene.", "journal": "The Journal of biological chemistry", "date": "1984", "authors": "Chen MJ, Shimada T, Moulton AD, Cline A, Humphries RK, Maizel J, Nienhuis AW", "evidence": [ { "database": "Reactome", "id": "R-HSA-196757", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196757" } ], "reference": [ { "type": "PubMed", "id": "6323448", "url": "https://glygen.org/publication/PubMed/6323448" } ] }, { "title": "Seven novel mutations in the methylenetetrahydrofolate reductase gene and genotype/phenotype correlations in severe methylenetetrahydrofolate reductase deficiency.", "journal": "American journal of human genetics", "date": "1995", "authors": "Goyette P, Frosst P, Rosenblatt DS, Rozen R", "evidence": [ { "database": "Reactome", "id": "R-HSA-196757", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196757" } ], "reference": [ { "type": "PubMed", "id": "7726158", "url": "https://glygen.org/publication/PubMed/7726158" } ] }, { "title": "Isolation of a human cDNA that complements a mutant hamster cell defective in methotrexate uptake.", "journal": "The Journal of biological chemistry", "date": "1995", "authors": "Williams FM, Flintoff WF", "evidence": [ { "database": "Reactome", "id": "R-HSA-196757", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196757" } ], "reference": [ { "type": "PubMed", "id": "7852378", "url": "https://glygen.org/publication/PubMed/7852378" } ] }, { "title": "NAD-dependent methylenetetrahydrofolate dehydrogenase-methenyltetrahydrofolate cyclohydrolase is the mammalian homolog of the mitochondrial enzyme encoded by the yeast MIS1 gene.", "journal": "Biochemistry", "date": "1993", "authors": "Yang XM, MacKenzie RE", "evidence": [ { "database": "Reactome", "id": "R-HSA-196757", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196757" } ], "reference": [ { "type": "PubMed", "id": "8218174", "url": "https://glygen.org/publication/PubMed/8218174" } ] }, { "title": "Cloning and characterization of the human 5,10-methenyltetrahydrofolate synthetase-encoding cDNA.", "journal": "Gene", "date": "1995", "authors": "Dayan A, Bertrand R, Beauchemin M, Chahla D, Mamo A, Filion M, Skup D, Massie B, Jolivet J", "evidence": [ { "database": "Reactome", "id": "R-HSA-196757", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196757" } ], "reference": [ { "type": "PubMed", "id": "8522195", "url": "https://glygen.org/publication/PubMed/8522195" } ] }, { "title": "Purification and properties of human cytosolic folylpoly-gamma-glutamate synthetase and organization, localization, and differential splicing of its gene.", "journal": "The Journal of biological chemistry", "date": "1996", "authors": "Chen L, Qi H, Korenberg J, Garrow TA, Choi YJ, Shane B", "evidence": [ { "database": "Reactome", "id": "R-HSA-196757", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196757" } ], "reference": [ { "type": "PubMed", "id": "8662720", "url": "https://glygen.org/publication/PubMed/8662720" } ] }, { "title": "The 3-D structure of a folate-dependent dehydrogenase/cyclohydrolase bifunctional enzyme at 1.5-A resolution.", "journal": "Structure", "date": "1998", "authors": "Li Y., Cygler M., Allaire M., Mackenzie R.E.", "evidence": [ { "database": "UniProtKB", "id": "P11586", "url": "https://www.uniprot.org/uniprot/P11586" } ], "reference": [ { "type": "PubMed", "id": "9519408", "url": "https://glygen.org/publication/PubMed/9519408" } ] }, { "title": "Molecular genetic analysis of the gene encoding the trifunctional enzyme MTHFD (methylenetetrahydrofolate-dehydrogenase, methenyltetrahydrofolate-cyclohydrolase, formyltetrahydrofolate synthetase) in patients with neural tube defects.", "journal": "Clin. Genet.", "date": "1998", "authors": "Hol FA, van der Put NM, Geurds MP, Heil SG, Trijbels FJ, Hamel BC, Mariman EC, Blom HJ", "evidence": [ { "database": "UniProtKB", "id": "P11586", "url": "https://www.uniprot.org/uniprot/P11586" } ], "reference": [ { "type": "PubMed", "id": "9611072", "url": "https://glygen.org/publication/PubMed/9611072" } ] }, { "title": "The crystal structure of human cytosolic serine hydroxymethyltransferase: a target for cancer chemotherapy.", "journal": "Structure (London, England : 1993)", "date": "1998", "authors": "Renwick SB, Snell K, Baumann U", "evidence": [ { "database": "Reactome", "id": "R-HSA-196757", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196757" } ], "reference": [ { "type": "PubMed", "id": "9753690", "url": "https://glygen.org/publication/PubMed/9753690" } ] } ], "pathway": [ { "id": "hsa:4522", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:4522", "resource": "KEGG Pathway" }, { "id": "R-HSA-196757", "name": "Metabolism of folate and pterines", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196757", "resource": "Reactome", "description": "Metabolism of folate and pterines" } ], "orthologs": [ { "uniprot_canonical_ac": "O96553-1", "protein_name": "C-1-tetrahydrofolate synthase, cytoplasmic", "gene_name": "pug", "tax_id": 7227, "organism": "Drosophila melanogaster", "sequence": { "sequence": "MSAQYQRFLKVLEKWPAEKSKVGSGEWTAEPAIKMSGAKIISGTAVAKSIREELRNEVTAMSKQLADFVPGLRIVQVGGREDSNVYIRMKIKAATEIGIDAAHVQLPRSITEVELLDKINDLNEDPRVHGIIVQMPLDCDTPIDSHRITDAVSPEKDVDGLHTVNEGRLAIGDLGGFLPCTPWGCLELIRRSGVEIAGARAVVLGRSKIVGTPAAELLKWANATVTVCHSKTRNLEEITRSADILVVGIGVAEMVKGSWIKPGAVVIDCGINVKPDASKASGSKLVGDVDYAEALQVAGHLTPVPGGVGPMTVAMLMKNTVRSAARFLERLAKSQWALQTLPLKPQRPVPSDIVIARAQKPKDIAVLAKEIGLEAREVSLYGNKKAKISLSVLERLKDKEVGHYVVVAGMTPTPLGEGKTTTLMGLVQALGAHKLRNTMAALRQPSQGPTFGIKGGAAGGGYAQVIPMEEFNLHLTGDIHAVSAANNLLAAQLDTRIFHENTQKDKALYDRLVPAIKGQRKFSPIQLRRLQKLGITKTDPDTLTADEYGPFARLDIDPDTIMWERVVDINDRYLRTITVGQSPTEKGISRETRFSISVASEIMAVLALSRSLEDMKQRLADMVVAFDKRGKPVTADDLGVTGALAVLLKDALEPNLMQSLEGTPVLVHAGPFANIAHGCNSIIADEVGLKLVGKNGFVCTEAGFGSDIGMEKFCNIKCRTSGRKPNAMVLVATVRAIKMHGGGAPVTPGAPLNKQYTEENLELVQKGLPNLLQHIENGKAFGMPVVVSLNAHSADTPAEHELVKKAALEAGAFAAVVSTHWADGGAGAVQLADAVIKACEQGNQFRLLYDLELPLVDKMNKIATTMYGAGKVVLSPAAEEKVKRLTDAGFGNLPICMSKVSGSFTGDAKIKGAPKGFTLDVEDVYVSAGAGFVVAMCGEVTKMPGLPTRPAIYDIDLNTETGEIEGLF", "length": 968 }, "evidence": 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"http://www.informatics.jax.org/homology/45227814", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q922D8-1", "protein_name": "C-1-tetrahydrofolate synthase, cytoplasmic", "gene_name": "Mthfd1", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MAPAGILNGKLVSAQIRDRLKNQVTRMQEQVPGFTPGLAILQVGDRDDSNLYINVKLKAAEEIGIKATHIKLPRTSTESEVLKYVISLNEDASVHGFIVQLPLDSENSINTEAVINAIAPEKDVDGLTSVSAGKLARGDLNDCFIPCTPKGCLELIKEAGVQIAGRHAVVVGRSKIVGAPMHDLLLWNNATVTTCHSKTANLDKEVNKGDILVVATGQPEMVKGEWIKPGAVVIDCGINYVPDDTKPNGRKVVGDVAYDEAKERASFITPVPGGVGPMTVAMLMQSTVESAQRFLQKFKPGKWTIQYNKLNLKTPVPSDIAISRSCKPKLIGNLAREIGLLTEEVELYGETKAKVLLSALDRLKHQPDGKYVVVTGITPTPLGEGKSTTTIGLVQALGAHLRQNVFACVRQPSQGPTFGIKGGAAGGGYSQVIPMEEFNLHLTGDIHAITAANNLVAAAIDARIFHELTQTDKALFNRLVPSVNGIRKFSDIQIRRLRRLGIEKTDPTTLTDDEINRFARLDIDPETITWQRVLDTNDRFLRKITIGQSPTEKGHTRTAQFDISVASEIMAVLALTSSLEDMRERLGRMVVASSKKGEPISCEDLGVSGALTVLMKDAIKPNLMQTLEGTPVFVHAGPFANIAHGNSSIIADRIALKLVGPEGFVVTEAGFGADIGMEKFFNIKCRYSGLQPHVVVLVATVRALKMHGGGPTVTAGLPLPKAYTEEDLDLVEKGFSNLRKQIENARMFGVPVVVAVNVFKTDTDAELDLVSRLSREHGAFDAVKCTHWAEGGQGALALAQAVQRASQAPSSFQLLYDLKLSIEDKIRIIAQRIYGADDIELLPEAQNKAEIYTKQGFGNLPICMAKTHLSLSHNPEQKGVPTGFVLPIRDIRASVGAGFLYPLVGTMSTMPGLPTRPCFYDIDLDPETEQVNGLF", "length": 935 }, "evidence": [ { "id": "45227814", "url": "http://www.informatics.jax.org/homology/45227814", "database": "MGI" }, { "id": "P11586", "url": "https://omabrowser.org/oma/group/P11586/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 7, "go_terms": [ { "name": "hydrolase activity", "id": "GO:0016787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016787", "evidence": [ { "database": "UniProtKB", "id": "P11586", "url": "https://www.uniprot.org/uniprot/P11586" } ], "pmid": "" }, { "name": "methylenetetrahydrofolate dehydrogenase (NADP+) activity", "id": "GO:0004488", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004488", "evidence": [ { "database": "UniProtKB", "id": "P11586", "url": "https://www.uniprot.org/uniprot/P11586" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "P11586", "url": "https://www.uniprot.org/uniprot/P11586" } ], "pmid": "" }, { "name": "formate-tetrahydrofolate ligase activity", "id": "GO:0004329", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004329", "evidence": [ { "database": "UniProtKB", "id": "P11586", "url": "https://www.uniprot.org/uniprot/P11586" } ], "pmid": "" }, { "name": "methenyltetrahydrofolate cyclohydrolase activity", "id": "GO:0004477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004477", "evidence": [ { "database": "UniProtKB", "id": "P11586", "url": "https://www.uniprot.org/uniprot/P11586" } ], "pmid": "" }, { "name": "methylenetetrahydrofolate dehydrogenase [NAD(P)+] activity", "id": "GO:0004486", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004486", "evidence": [ { "database": "UniProtKB", "id": "P11586", "url": "https://www.uniprot.org/uniprot/P11586" } ], "pmid": "" }, { "name": "methylenetetrahydrofolate dehydrogenase (NAD+) activity", "id": "GO:0004487", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004487", "evidence": [ { "database": "UniProtKB", "id": "P11586", "url": "https://www.uniprot.org/uniprot/P11586" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 17, "go_terms": [ { "name": "one-carbon metabolic process", "id": "GO:0006730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006730", "evidence": [ { "database": "UniProtKB", "id": "P11586", "url": "https://www.uniprot.org/uniprot/P11586" } ], "pmid": "" }, { "name": "tetrahydrofolate interconversion", "id": "GO:0035999", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035999", "evidence": [ { "database": "UniProtKB", "id": "P11586", "url": "https://www.uniprot.org/uniprot/P11586" } ], "pmid": "" }, { "name": "purine ribonucleotide biosynthetic process", "id": "GO:0009152", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009152", "evidence": [ { "database": "UniProtKB", "id": "P11586", "url": "https://www.uniprot.org/uniprot/P11586" } ], "pmid": "" }, { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "P11586", "url": "https://www.uniprot.org/uniprot/P11586" } ], "pmid": "" }, { "name": "neural tube closure", "id": "GO:0001843", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001843", "evidence": [ { "database": "UniProtKB", "id": "P11586", "url": "https://www.uniprot.org/uniprot/P11586" } ], "pmid": "" }, { "name": "neutrophil homeostasis", "id": "GO:0001780", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001780", "evidence": [ { "database": "UniProtKB", "id": "P11586", "url": "https://www.uniprot.org/uniprot/P11586" } ], "pmid": "" }, { "name": "10-formyltetrahydrofolate biosynthetic process", "id": "GO:0009257", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009257", "evidence": [ { "database": "UniProtKB", "id": "P11586", "url": "https://www.uniprot.org/uniprot/P11586" } ], "pmid": "" }, { "name": "embryonic neurocranium morphogenesis", "id": "GO:0048702", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048702", "evidence": [ { "database": "UniProtKB", "id": "P11586", "url": "https://www.uniprot.org/uniprot/P11586" } ], "pmid": "" }, { "name": "embryonic viscerocranium morphogenesis", "id": "GO:0048703", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048703", "evidence": [ { "database": "UniProtKB", "id": "P11586", "url": "https://www.uniprot.org/uniprot/P11586" } ], "pmid": "" }, { "name": "histidine biosynthetic process", "id": "GO:0000105", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000105", "evidence": [ { "database": "UniProtKB", "id": "P11586", "url": "https://www.uniprot.org/uniprot/P11586" } ], "pmid": "" }, { "name": "purine nucleotide biosynthetic process", "id": "GO:0006164", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006164", "evidence": [ { "database": "UniProtKB", "id": "P11586", "url": "https://www.uniprot.org/uniprot/P11586" } ], "pmid": "" }, { "name": "methionine metabolic process", "id": "GO:0006555", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006555", "evidence": [ { 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