{ "uniprot_canonical_ac": "Q9Z2Q4-1", "uniprot_ac": "Q9Z2Q4", "uniprot_id": "METH_RAT", "mass": { "chemical_mass": 139164.0, "monoisotopic_mass": 139164.0 }, "refseq": { "ac": "NP_110491", "name": "methionine synthase", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_110491" }, "gene_names": [ { "name": "Mtr", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q9Z2Q4", "id": "Q9Z2Q4" }, { "name": "Mtr", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_110491", "id": "NP_110491" }, { "name": "methioninesynthase", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_110491", "id": "NP_110491" } ], "protein_names": [ { "name": "Methionine synthase", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q9Z2Q4" }, { "name": "2.1.1.13", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9Z2Q4" }, { "name": "5-methyltetrahydrofolate--homocysteine methyltransferase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9Z2Q4" }, { "name": "Cobalamin-dependent methionine synthase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9Z2Q4" }, { "name": "MS; vitamin-B12 dependent methionine synthase; cobalamin-dependent methionine synthase", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_110491", "id": "NP_110491" }, { "name": "MS", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9Z2Q4" }, { "name": "Vitamin-B12 dependent methionine synthase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9Z2Q4" }, { "name": "methionine synthase", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_110491", "id": "NP_110491" } ], "function": [ { "annotation": "Catalyzes the transfer of a methyl group from methylcob(III)alamin (MeCbl) to homocysteine, yielding enzyme-bound cob(I)alamin and methionine in the cytosol (PubMed:9219091, PubMed:9972236). MeCbl is an active form of cobalamin (vitamin B12) used as a cofactor for methionine biosynthesis (PubMed:9219091, PubMed:9972236). Cob(I)alamin form is regenerated to MeCbl by a transfer of a methyl group from 5-methyltetrahydrofolate (By similarity). The processing of cobalamin in the cytosol occurs in a multiprotein complex composed of at least MMACHC, MMADHC, MTRR (methionine synthase reductase) and MTR which may contribute to shuttle safely and efficiently cobalamin towards MTR in order to produce methionine (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2Q4", "url": "https://www.uniprot.org/uniprot/Q9Z2Q4#function" }, { "database": "UniProtKB", "id": "Q99707", "url": "https://www.uniprot.org/uniprot/Q99707#function" }, { "database": "PubMed", "id": "9972236", "url": "https://glygen.org/publication/PubMed/9972236" }, { "database": "PubMed", "id": "9219091", "url": "https://glygen.org/publication/PubMed/9219091" }, { "database": "UniProtKB", "id": "G3V8A4", "url": "https://www.uniprot.org/uniprot/G3V8A4#function" }, { "database": "UniProtKB", "id": "PIRNR000381", "url": "https://www.uniprot.org/uniprot/PIRNR000381#function" } ] }, { "annotation": "The objective of this study was to investigate the effects of dietary Zn supply on homocysteine levels and expression of Methionine synthase and betaine-homocysteine methyltransferase in growing rats.", "evidence": [ { "database": "RefSeq", "id": "NP_110491", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_110491" }, { "database": "PubMed", "id": "25467853", "url": "https://glygen.org/publication/PubMed/25467853" } ] } ], "disease": [ { "disease_id": "DOID:0050731", "recommended_name": { "id": "DOID:0050731", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050731", "name": "vitamin B12 deficiency", "description": "A vitamin metabolic disorder that results from low blood levels of vitamin B12." }, "synonyms": [ { "id": "DOID:0050731", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050731", "name": "cobalamin deficiency", "description": "" }, { "id": "DOID:0050731", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050731", "name": "hypocobalaminemia", "description": "" } ], "evidence": [ { "id": "0050731", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050731" } ] }, { "disease_id": "DOID:0050733", "recommended_name": { "id": "DOID:0050733", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050733", "name": "methylmalonic aciduria and homocystinuria type cblG", "description": "A methylmalonic acidemia that is characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures, has_material_basis_in homozygous or compound heterozygous mutation in the MTR gene on chromosome 1q43 that causes an inborn error of vitamin B12 metabolism." }, "synonyms": [], "evidence": [ { "id": "0050733", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050733" } ] }, { "disease_id": "DOID:0080016", "recommended_name": { "id": "DOID:0080016", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080016", "name": "spina bifida", "description": "A neural tube defect that is characterized by incomplete closing of the spine and membranes around the spinal cord during early development." }, "synonyms": [], "evidence": [ { "id": "0080016", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0080016" } ] }, { "disease_id": "DOID:10763", "recommended_name": { "id": "DOID:10763", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries." }, "synonyms": [ { "id": "DOID:10763", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10763", "name": "HTN", "description": "" }, { "id": "DOID:10763", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10763", "name": "hyperpiesia", "description": "" }, { "id": "DOID:10763", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10763", "name": "vascular hypertensive disorder", "description": "" } ], "evidence": [ { "id": "10763", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "evidence": [ { "id": "11054", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:114", "recommended_name": { "id": "DOID:114", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:114", "name": "heart disease", "description": "A cardiovascular system disease that involves the heart." }, "synonyms": [], "evidence": [ { "id": "114", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:114" } ] }, { "disease_id": "DOID:12849", "recommended_name": { "id": "DOID:12849", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12849", "name": "autistic disorder", "description": "An autism spectrum disorder that is characterized by symptoms across all three symptom domains (communication, social, restricted repetitive interests and behaviors), delayed language development, and symptom onset prior to age 3 years." }, "synonyms": [ { "id": "DOID:12849", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12849", "name": "Kanner's syndrome", "description": "" }, { "id": "DOID:12849", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12849", "name": "autism", "description": "" }, { "id": "DOID:12849", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12849", "name": "autistic disorder of childhood onset", "description": "" }, { "id": "DOID:12849", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12849", "name": "childhood autism", "description": "" }, { "id": "DOID:12849", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12849", "name": "infantile autism", "description": "" }, { "id": "MONDO:0005260", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005260", "name": "autism", "description": "Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior." }, { "id": "MONDO:0005260", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005260", "name": "autism spectrum disorder", "description": "" }, { "id": "MONDO:0005260", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005260", "name": "Kanner's syndrome", "description": "" }, { "id": "MONDO:0005260", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005260", "name": "autism", "description": "" }, { "id": "MONDO:0005260", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005260", "name": "autism (disease)", "description": "" }, { "id": "MONDO:0005260", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005260", "name": "autistic disorder of childhood onset", "description": "" }, { "id": "MONDO:0005260", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005260", "name": "childhood autism", "description": "" }, { "id": "MONDO:0005260", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005260", "name": "infantile autism", "description": "" }, { "id": "MONDO:0005260", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005260", "name": "autism, susceptiblity to", "description": "" }, { "id": "MONDO:0005260", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005260", "name": "autistic disorder", "description": "" } ], "evidence": [ { "id": "12849", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:12849" } ] }, { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ], "evidence": [ { "id": "1793", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ] }, { "disease_id": "DOID:2986", "recommended_name": { "id": "DOID:2986", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2986", "name": "IgA glomerulonephritis", "description": "A glomerulonephritis characterized by build up of IgA antibody in the glomerulus." }, "synonyms": [ { "id": "DOID:2986", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2986", "name": "Berger's IgA or IgG nephropathy", "description": "" }, { "id": "DOID:2986", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2986", "name": "Focal Glomerulonephritis", "description": "" }, { "id": "DOID:2986", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2986", "name": "IgA nephropathy", "description": "" }, { "id": "DOID:2986", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2986", "name": "primary IgA nephropathy", "description": "" }, { "id": "DOID:2986", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2986", "name": "segmental glomerulonephritis", "description": "" }, { "id": "MONDO:0008072", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008072", "name": "IgA nephropathy, susceptibility to, 1", "description": "" }, { "id": "MONDO:0008072", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008072", "name": "IGAN1", "description": "" }, { "id": "MONDO:0008072", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008072", "name": "IgA nephropathy, susceptibility to, 1", "description": "" }, { "id": "MONDO:0008072", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008072", "name": "Igan", "description": "" }, { "id": "MONDO:0008072", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008072", "name": "berger disease", "description": "" }, { "id": "MONDO:0008072", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008072", "name": "glomerulonephritis, IgA", "description": "" }, { "id": "MONDO:0008072", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008072", "name": "nephritis, IgA type", "description": "" } ], "evidence": [ { "id": "2986", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:2986" } ] }, { "disease_id": "DOID:768", "recommended_name": { "id": "DOID:768", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:768", "name": "retinoblastoma", "description": "A retinal cell cancer and malignant neoplasm of retina and neuroblastoma and neuroendocrine tumors that derives_from the tissues of the retina." }, "synonyms": [ { "id": "DOID:768", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:768", "name": "RB", "description": "" }, { "id": "DOID:768", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:768", "name": "RB - Retinoblastoma", "description": "" }, { "id": "DOID:768", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:768", "name": "neuroblastoma of Retina", "description": "" }, { "id": "MONDO:0018160", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018160", "name": "hereditary retinoblastoma", "description": "An inherited malignant tumor that originates in the nuclear layer of the retina. A predisposition to retinoblastoma has been associated with 13q14 cytogenetic abnormalities. Patients with the inherited form appear to be at increased risk for secondary nonocular malignancies such as osteosarcoma, malignant fibrous histiocytoma, and fibrosarcoma." }, { "id": "MONDO:0018160", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018160", "name": "RB1", "description": "" }, { "id": "MONDO:0018160", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018160", "name": "familial retinoblastoma", "description": "" }, { "id": "MONDO:0018160", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018160", "name": "hereditary retinoblastoma", "description": "" }, { "id": "MONDO:0018160", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018160", "name": "retinoblastoma, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0018160", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018160", "name": "retinoblastoma, trilateral, autosomal dominant, somatic mutation", "description": "" }, { "id": "MIM:180200", "resource": "MIM", "url": "https://www.omim.org/entry/180200", "name": "Childhood cancer retinoblastoma", "description": "Childhood cancer retinoblastoma" } ], "evidence": [ { "id": "768", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:768" } ] }, { "disease_id": "DOID:9279", "recommended_name": { "id": "DOID:9279", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9279", "name": "hyperhomocysteinemia", "description": "An amino acid metabolic disorder that involves an abnormally large level of homocysteine in the blood." }, "synonyms": [ { "id": "MONDO:0004743", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0004743", "name": "hyperhomocysteinemia", "description": "A serious metabolic condition caused by mutations in the MTHFR gene, medications, or nutritional deficiency. It results in increased levels of homocysteine in the blood. Patients with this condition are at an increased risk for recurrent blood clots formation and cardiovascular accidents." }, { "id": "MONDO:0004743", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0004743", "name": "homocysteinemia", "description": "" }, { "id": "MONDO:0004743", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0004743", "name": "hyperhomocysteinemia", "description": "" } ], "evidence": [ { "id": "9279", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:9279" } ] }, { "disease_id": "DOID:9352", "recommended_name": { "id": "DOID:9352", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin." }, "synonyms": [ { "id": "DOID:9352", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9352", "name": "NIDDM", "description": "" }, { "id": "DOID:9352", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9352", "name": "non-insulin-dependent diabetes mellitus", "description": "" }, { "id": "DOID:9352", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9352", "name": "type 2 diabetes", "description": "" }, { "id": "DOID:9352", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9352", "name": "type II diabetes mellitus", "description": "" }, { "id": "DOID:9352", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9352", "name": "insulin resistance", "description": "" }, { "id": "MONDO:0011955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011955", "name": "diabetes mellitus, noninsulin-dependent, 4", "description": "" }, { "id": "MONDO:0011955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011955", "name": "diabetes mellitus, noninsulin-dependent, 4", "description": "" }, { "id": "MONDO:0011955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011955", "name": "diabetes mellitus, noninsulin-dependent, type 4", "description": "" }, { "id": "MONDO:0011955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011955", "name": "Niddm4", "description": "" }, { "id": "MONDO:0011955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011955", "name": "noninsulin-dependent diabetes mellitus 4", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "type 2 diabetes mellitus", "description": "A type of diabetes mellitus that is characterized by insulin resistance or desensitization and increased blood glucose levels. This is a chronic disease that can develop gradually over the life of a patient and can be linked to both environmental factors and heredity." }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "NIDDM", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "T2DM - type 2 diabetes mellitus", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "adult onset diabetes", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "adult-onset diabetes", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitis type 2", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitis type II", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, noninsulin-dependent", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, noninsulin-dependent, association with", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, noninsulin-dependent, late onset", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, type 2", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, type II", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes, type 2", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "insulin resistance, severe, digenic", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "non-insulin dependent diabetes", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "non-insulin dependent diabetes mellitus", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "non-insulin-dependent diabetes mellitus", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "noninsulin dependent diabetes", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "noninsulin-dependent diabetes mellitus", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "type 2 diabetes", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "type 2 diabetes mellitus", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "type 2 diabetes mellitus non-insulin dependent", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "type II diabetes", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "type II diabetes mellitus", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, noninsulin-dependent, 2", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, non-insulin-dependent, susceptibility to", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, noninsulin-dependent, susceptibility to", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, type 2, protection against", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, type 2, susceptibility to", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, type II, susceptibility to", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "hypertension, insulin resistance-related, susceptibility to", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "insulin resistance, susceptibility to", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "maturity-onset diabetes", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "type 2 diabetes mellitus, susceptibility to", "description": "" }, { "id": "MONDO:0011027", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011027", "name": "diabetes mellitus, noninsulin-dependent, 1", "description": "" }, { "id": "MONDO:0011027", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011027", "name": "diabetes mellitus, noninsulin-dependent 1", "description": "" }, { "id": "MONDO:0011027", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011027", "name": "diabetes mellitus, noninsulin-dependent, 1", "description": "" }, { "id": "MONDO:0011027", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011027", "name": "diabetes mellitus, noninsulin-dependent, type 1", "description": "" }, { "id": "MONDO:0011027", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011027", "name": "NIDDM1", "description": "" }, { "id": "MONDO:0011027", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011027", "name": "noninsulin-dependent diabetes mellitus 1", "description": "" }, { "id": "MONDO:0011072", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011072", "name": "diabetes mellitus, noninsulin-dependent, 2", "description": "" }, { "id": "MONDO:0011072", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011072", "name": "NIDDM2", "description": "" }, { "id": "MONDO:0011072", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011072", "name": "diabetes mellitus, noninsulin-dependent, 2", "description": "" }, { "id": "MONDO:0011072", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011072", "name": "noninsulin-dependent diabetes mellitus 2", "description": "" }, { "id": "MONDO:0011363", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011363", "name": "diabetes mellitus, noninsulin-dependent, 3", "description": "" }, { "id": "MONDO:0011363", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011363", "name": "diabetes mellitus, noninsulin-dependent, 3", "description": "" }, { "id": "MONDO:0011363", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011363", "name": "diabetes mellitus, noninsulin-dependent, type 3", "description": "" }, { "id": "MONDO:0011363", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011363", "name": "type 2 diabetes mellitus 3", "description": "" }, { "id": "MONDO:0011363", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011363", "name": "NIDDM3", "description": "" }, { "id": "MONDO:0011363", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011363", "name": "noninsulin-dependent diabetes mellitus 3", "description": "" }, { "id": "MIM:125853", "resource": "MIM", "url": "https://www.omim.org/entry/125853", "name": "Type 2 diabetes mellitus", "description": "Type 2 diabetes mellitus" }, { "id": "MIM:601283", "resource": "MIM", "url": "https://www.omim.org/entry/601283", "name": "Type 2 diabetes mellitus 1", "description": "Type 2 diabetes mellitus 1" } ], "evidence": [ { "id": "9352", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ] }, { "disease_id": "DOID:9538", "recommended_name": { "id": "DOID:9538", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9538", "name": "multiple myeloma", "description": "A myeloid neoplasm that is located_in the plasma cells in bone marrow." }, "synonyms": [ { "id": "DOID:9538", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9538", "name": "myeloma", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "plasma cell myeloma", "description": "A bone marrow-based plasma cell neoplasm characterized by a serum monoclonal protein and skeletal destruction with osteolytic lesions, pathological fractures, bone pain, hypercalcemia, and anemia. Clinical variants include non-secretory myeloma, smoldering myeloma, indolent myeloma, and plasma cell leukemia. (WHO, 2001)" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "Kahler disease", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "Kahler's disease", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "medullary plasmacytoma", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "multiple myeloma", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "multiple myeloma, resistance to, Somatic mutation", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "multiple myeloma, susceptibility to, Somatic mutation", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "multiple myeloma/plasma cell myeloma", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "myeloid neoplasm of plasma cell", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "myeloma", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "myeloma, multiple", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "myeloma, plasma cell, malignant", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "myelomatosis", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "plasma cell myeloid neoplasm", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "plasma cell myeloma", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "Al amyloidosis", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "amyloidosis, systemic", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "myeloma - multiple", "description": "" }, { "id": "MIM:254500", "resource": "MIM", "url": "https://www.omim.org/entry/254500", "name": "Multiple myeloma", "description": "Multiple myeloma" } ], "evidence": [ { "id": "9538", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:9538" } ] }, { "disease_id": "DOID:9952", "recommended_name": { "id": "DOID:9952", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9952", "name": "acute lymphoblastic leukemia", "description": "A acute leukemia that is characterized by over production of lymphoblasts." }, "synonyms": [ { "id": "DOID:9952", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9952", "name": "ALL", "description": "" }, { "id": "DOID:9952", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9952", "name": "precursor lymphoblastic lymphoma/leukemia", "description": "" }, { "id": "DOID:9952", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9952", "name": "acute lymphoblastic leukaemia", "description": "" }, { "id": "DOID:9952", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9952", "name": "acute lymphocytic leukaemia", "description": "" }, { "id": "MONDO:0009539", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009539", "name": "lymphoblastic leukemia, acute, with lymphomatous features", "description": "" }, { "id": "MONDO:0009539", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009539", "name": "leukemia, acute lymphoblastic", "description": "" }, { "id": "MONDO:0009539", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009539", "name": "lymphoblastic leukemia, acute, with lymphomatous features", "description": "" }, { "id": "MONDO:0009539", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009539", "name": "lall", "description": "" }, { "id": "MONDO:0009539", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009539", "name": "lymphomatous All", "description": "" }, { "id": "MONDO:0013108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013108", "name": "leukemia, acute lymphocytic, susceptibility to, 1", "description": "" }, { "id": "MONDO:0013108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013108", "name": "T-cell acute lymphoblastic leukemia, somatic", "description": "" }, { "id": "MONDO:0013108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013108", "name": "leukemia, T-cell acute lymphoblastic, somatic", "description": "" }, { "id": "MONDO:0013108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013108", "name": "leukemia, T-cell acute lymphocytic, somatic", "description": "" }, { "id": "MONDO:0013108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013108", "name": "leukemia, acute lymphoblastic, somatic", "description": "" }, { "id": "MONDO:0013108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013108", "name": "leukemia, acute lymphocytic, Philadelphia chromosome positive, somatic", "description": "" }, { "id": "MONDO:0013108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013108", "name": "leukemia, acute lymphocytic, susceptibility to, 1", "description": "" }, { "id": "MONDO:0013108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013108", "name": "ALL", "description": "" }, { "id": "MONDO:0013108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013108", "name": "All1", "description": "" }, { "id": "MONDO:0013108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013108", "name": "leukemia, B-cell acute lymphoblastic, susceptibility to", "description": "" }, { "id": "MONDO:0013108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013108", "name": "leukemia, T-cell acute lymphoblastic, susceptibility to", "description": "" }, { "id": "MONDO:0013108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013108", "name": "leukemia, acute lymphoblastic", "description": "" }, { "id": "MONDO:0013108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013108", "name": "leukemia, acute lymphoblastic, B-Hyperdiploid, susceptibility to", "description": "" }, { "id": "MONDO:0013108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013108", "name": "leukemia, acute lymphoblastic, susceptibility to, 1", "description": "" }, { "id": "MIM:613065", "resource": "MIM", "url": "https://www.omim.org/entry/613065", "name": "Leukemia, acute lymphoblastic", "description": "Leukemia, acute lymphoblastic" } ], "evidence": [ { "id": "9952", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:9952" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [], "expression_disease": [], "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "Q9Z2Q4", "url": "https://www.uniprot.org/uniprot/Q9Z2Q4" } ], "common_name": "Rat" } ], "gene": [ { "name": "Mtr", "url": "https://www.uniprot.org/uniprot/Q9Z2Q4", "locus": { "chromosome": "17", "start_pos": 58304822, "end_pos": 58220071, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSRNOG00000017593", "url": "https://www.ensembl.org/id/ENSRNOG00000017593" } ] } } ], "crossref": [ { "id": "ENSRNOG00000017593", "url": "https://bgee.org/?page=gene&gene_id=ENSRNOG00000017593", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "2.1.1.13", "url": "https://www.brenda-enzymes.org/enzyme.php?ecno=2.1.1.13&UniProtAcc=Q9Z2Q4", "database": "BRENDA", "categories": [ "Enzyme and Pathway" ] }, { "id": "cd00740", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd00740", "database": "CDD", "categories": [ "Protein 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"categories": [ "Protein Classification" ] }, { "id": "IPR006158", "url": "https://www.ebi.ac.uk/interpro/entry/IPR006158", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR011005", "url": "https://www.ebi.ac.uk/interpro/entry/IPR011005", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR011822", "url": "https://www.ebi.ac.uk/interpro/entry/IPR011822", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR033706", "url": "https://www.ebi.ac.uk/interpro/entry/IPR033706", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036589", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036589", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036594", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036594", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036724", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036724", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR037010", "url": "https://www.ebi.ac.uk/interpro/entry/IPR037010", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "rno:81522", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+rno:81522", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "ADCIAMS", "url": "https://omabrowser.org/oma/group/ADCIAMS/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "66796at2759", "url": "http://www.orthodb.org/?query=66796at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR45833", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR45833", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR45833:SF1", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR45833:SF1", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF00809", "url": "http://pfam.xfam.org/family/PF00809", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF02310", "url": "http://pfam.xfam.org/family/PF02310", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF02574", "url": "http://pfam.xfam.org/family/PF02574", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF02607", "url": "http://pfam.xfam.org/family/PF02607", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF02965", "url": "http://pfam.xfam.org/family/PF02965", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PR_Q9Z2Q4", "url": "http://purl.obolibrary.org/obo/PR_Q9Z2Q4", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-RNO-156581", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-156581", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-RNO-1614635", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-1614635", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-RNO-9013407", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-9013407", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-RNO-9759218", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-9759218", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_110491", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_110491", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "621283", "url": "http://rgd.mcw.edu/tools/genes/genes_view.cgi?id=621283", "database": "RGD", "categories": [ "Organism-specific" ] }, { "id": "11172", "url": "https://www.rhea-db.org/rhea/11172", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "G3V8A4", "url": "https://www.uniprot.org/uniprot/G3V8A4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "G3V8A4-1", "url": "https://www.uniprot.org/uniprot/G3V8A4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9Z2Q4", "url": "https://www.uniprot.org/uniprot/Q9Z2Q4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9Z2Q4-1", "url": "https://www.uniprot.org/uniprot/Q9Z2Q4-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MKKTLQDEIEAILRKRIMVLDGGMGTMIQRYKLSEENFQGQEFKDHSRPLKGNNDILSITQPDVIYQIHKEYLLAGADIIETNTFSSTSIAQADYGLEHLAYRMNKCSADVARKAAEEITLQTGVKRFVAGSLGPTNKTLSVSPSVERPDYRNITFDELVEAYQEQAKGLLDGGVDILLIETIFDTANAKAALFALQKLFEENYASPRPIFISGTIVDKSGRTLSGQTGEAFVTSVSHSDPLCIGLNCALGAAEMRPFIETIGKCTTAYVLCYPNAGLPNTFGDYDETPAMMAMHLKDFAVDGLVNVVGGCCGSTPDHIREIAEAVKNCKPRVPPDSVFEGHMLLSGLEPFRIGPYTNFVNIGERCNVAGSKKFAKLIMAGNYEEALSVAKVQVEMGAQVLDINMDDGMLDGPSAMTKFCNFIASEPDIAKVPLCIDSSNFAVIEAGLKCCQGKCIVNSISLKEGEEDFLEKARKIKKFGAAVVVMAFDEEGQATETDVKVSVCTRAYHLLVEKVGFNPNDIIFDPNILTIGTGMEEHNLYAINFIHATRVIKETLPGVRISGGLSNLSFAFRGMDAIREAMHGVFLYHAIKFGMDMGIVNAGSLPVYDDIHKDLLQLCEDLIWNRDAEATEKLLRYAQTHGKGGKKVIQTDEWRNGSIEERLEYALVKGIEKHIVEDTEEARLNREKYPRPLNIIEGPLMNGMKVVGDLFGAGKMFLPQVIKSARVMKKAVGHLIPFMEKEREEARVLNGSVEEEDPYQGTIVLATVKGDVHDIGKNIVGVVLGCNNFRVIDLGVMTPCDKILQAALDHKADIIGLSGLITPSLDEMIFVAKEMERLAIKIPLLIGGATTSRTHTAVKIAPRYSAPVIHVLDASKSVVVCSQLLDENLKDDYFEEILEEYEDIRQDHYESLKERKYLPLSQARKHSFHIDWLSEPHPVKPTFIGTQVFEDYNLQKLVDYIDWKPFFDVWQLRGKYPNRGFPKIFNDKAVGEEARKVYEDAQNMLSILISRKKLRARGVVGFWPAQSVQDDIHLYAEGAVPQAAEPIATFYGLRQQAEKDSSSTDPYHCLSDFVAPLHSGVRDYLGLFAVACFGVEELSKAYEDDGDDYSSIMVKALGDRLAEAFAEELHERVRRELWAYCGSEQLGVTDLRKLRYEGIRPAPGYPSQPDHTEKLTMWRLANIEQATGIRLTESLAMAPASAVSGLYFSNVKSKYFAVGKISKDQIEDYALRKNMSVAEVEKWLGPILGYDTD", "length": 1253, "header": "sp|Q9Z2Q4-1|METH_RAT Isoform 1 of Methionine synthase OS=Rattus norvegicus OX=10116 GN=Mtr PE=1 SV=1 CANONICAL=Q9Z2Q4-1" }, "isoforms": [ { "isoform_ac": "G3V8A4-1", "url": "", "sequence": { "sequence": "MKKTLQDEIEAILRKRIMVLDGGMGTMIQRYKLSEENFQGQEFKDHSRPLKGNNDILSITQPDVIYQIHKEYLLAGADIIETNTFSSTSIAQADYGLEHLAYRMNKCSADVARKAAEEITLQTGVKRFVAGSLGPTNKTLSVSPSVERPDYRNITFDELVEAYQEQAKGLLDGGVDILLIETIFDTANAKAALFALQKLFEENYASPRPIFISGTIVDKSGRTLSGQTGEAFVTSVSHSDPLCIGLNCALGAAEMRPFIETIGKCTTAYVLCYPNAGLPNTFGDYDETPAMMAMHLKDFAVDGLVNVVGGCCGSTPDHIREIAEAVKNCKPRVPPDSVFEGHMLLSGLEPFRIGPYTNFVNIGERCNVAGSKKFAKLIMAGNYEEALSVAKVQVEMGAQVLDINMDDGMLDGPSAMTKFCNFIASEPDIAKVPLCIDSSNFAVIEAGLKCCQGKCIVNSISLKEGEEDFLEKARKIKKFGAAVVVMAFDEEGQATETDVKVSVCTRAYHLLVEKVGFNPNDIIFDPNILTIGTGMEEHNLYAINFIHATRVIKETLPGVRISGGLSNLSFAFRGMDAIREAMHGVFLYHAIKFGMDMGIVNAGSLPVYDDIHKDLLQLCEDLIWNRDAEATEKLLRYAQTHGKGGKKVIQTDEWRNGSIEERLEYALVKGIEKHIVEDTEEARLNREKYPRPLNIIEGPLMNGMKVVGDLFGAGKMFLPQVIKSARVMKKAVGHLIPFMEKEREEARVLNGSVEEEDPYQGTIVLATVKGDVHDIGKNIVGVVLGCNNFRVIDLGVMTPCDKILQAALDHKADIIGLSGLITPSLDEMIFVAKEMERLAIKIPLLIGGATTSRTHTAVKIAPRYSAPVIHVLDASKSVVVCSQLLDENLKDDYFEEILEEYEDIRQDHYESLKERKYLPLSQARKHSFHIDWLSEPHPVKPTFIGTQVFEDYNLQKLVDYIDWKPFFDVWQLRGKYPNRGFPKIFNDKAVGEEARKVYEDAQNMLNILISRKKLRARGVVGFWPAQSVQDDIHLYAEGAVPQAAEPIATFYGLRQQAEKDSSSTDPYHCLSDFVAPLHSGVRDYLGLFAVACFGVEELSKAYEDDGDDYSSIMVKALGDRLAEAFAEELHERVRRELWAYCGSEQLGVTDLRKLRYEGIRPAPGYPSQPDHTEKLTMWRLANIEQATGIRLTESLAMAPASAVSGLYFSNVKSKYFAVGKISKDQIEDYALRKNMSVAEVEKWLGPILGYDTD", "length": 1253, "header": "tr|G3V8A4-1|G3V8A4_RAT Computationally mapped isoform of Methionine synthase OS=Rattus norvegicus OX=10116 GN=Mtr PE=1 SV=1 CANONICAL=Q9Z2Q4-1" }, "locus": { "chromosome": "17", "start_pos": 58304398, "end_pos": 58226884, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSRNOT00000023974.6", "url": "https://www.ensembl.org/id/ENSRNOT00000023974.6" }, { "database": "Ensembl Peptide", "id": "ENSRNOP00000023973.3", "url": "https://www.ensembl.org/id/ENSRNOP00000023973.3" } ] } }, { "isoform_ac": "Q9Z2Q4-1", "url": "", "sequence": { "sequence": "MKKTLQDEIEAILRKRIMVLDGGMGTMIQRYKLSEENFQGQEFKDHSRPLKGNNDILSITQPDVIYQIHKEYLLAGADIIETNTFSSTSIAQADYGLEHLAYRMNKCSADVARKAAEEITLQTGVKRFVAGSLGPTNKTLSVSPSVERPDYRNITFDELVEAYQEQAKGLLDGGVDILLIETIFDTANAKAALFALQKLFEENYASPRPIFISGTIVDKSGRTLSGQTGEAFVTSVSHSDPLCIGLNCALGAAEMRPFIETIGKCTTAYVLCYPNAGLPNTFGDYDETPAMMAMHLKDFAVDGLVNVVGGCCGSTPDHIREIAEAVKNCKPRVPPDSVFEGHMLLSGLEPFRIGPYTNFVNIGERCNVAGSKKFAKLIMAGNYEEALSVAKVQVEMGAQVLDINMDDGMLDGPSAMTKFCNFIASEPDIAKVPLCIDSSNFAVIEAGLKCCQGKCIVNSISLKEGEEDFLEKARKIKKFGAAVVVMAFDEEGQATETDVKVSVCTRAYHLLVEKVGFNPNDIIFDPNILTIGTGMEEHNLYAINFIHATRVIKETLPGVRISGGLSNLSFAFRGMDAIREAMHGVFLYHAIKFGMDMGIVNAGSLPVYDDIHKDLLQLCEDLIWNRDAEATEKLLRYAQTHGKGGKKVIQTDEWRNGSIEERLEYALVKGIEKHIVEDTEEARLNREKYPRPLNIIEGPLMNGMKVVGDLFGAGKMFLPQVIKSARVMKKAVGHLIPFMEKEREEARVLNGSVEEEDPYQGTIVLATVKGDVHDIGKNIVGVVLGCNNFRVIDLGVMTPCDKILQAALDHKADIIGLSGLITPSLDEMIFVAKEMERLAIKIPLLIGGATTSRTHTAVKIAPRYSAPVIHVLDASKSVVVCSQLLDENLKDDYFEEILEEYEDIRQDHYESLKERKYLPLSQARKHSFHIDWLSEPHPVKPTFIGTQVFEDYNLQKLVDYIDWKPFFDVWQLRGKYPNRGFPKIFNDKAVGEEARKVYEDAQNMLSILISRKKLRARGVVGFWPAQSVQDDIHLYAEGAVPQAAEPIATFYGLRQQAEKDSSSTDPYHCLSDFVAPLHSGVRDYLGLFAVACFGVEELSKAYEDDGDDYSSIMVKALGDRLAEAFAEELHERVRRELWAYCGSEQLGVTDLRKLRYEGIRPAPGYPSQPDHTEKLTMWRLANIEQATGIRLTESLAMAPASAVSGLYFSNVKSKYFAVGKISKDQIEDYALRKNMSVAEVEKWLGPILGYDTD", "length": 1253, "header": "sp|Q9Z2Q4-1|METH_RAT Isoform 1 of Methionine synthase OS=Rattus norvegicus OX=10116 GN=Mtr PE=1 SV=1 CANONICAL=Q9Z2Q4-1" }, "locus": {} } ], "glycosylation": [], "phosphorylation": [ { "start_pos": 1252, "end_pos": 1252, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2Q4", "url": "https://www.uniprot.org/uniprot/Q9Z2Q4" }, { "database": "PubMed", "id": "22673903", "url": "https://glygen.org/publication/PubMed/22673903" }, { "database": "iPTMnet", "id": "Q9Z2Q4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Z2Q4" } ], "site_lbl": "Thr1252" } ], "glycation": [], "keywords": [ "enzyme" ], "publication": [ { "title": "Quantitative maps of protein phosphorylation sites across 14 different rat organs and tissues.", "journal": "Nature communications", "date": "2012", "authors": "Lundby A, Secher A, Lage K, Nordsborg NB, Dmytriyev A, Lundby C, Olsen JV", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2Q4", "url": "https://www.uniprot.org/uniprot/Q9Z2Q4" }, { "database": "UniProtKB", "id": "G3V8A4", "url": "https://www.uniprot.org/uniprot/G3V8A4" }, { "database": "iPTMnet", "id": "Q9Z2Q4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Z2Q4" } ], "reference": [ { "type": "PubMed", "id": "22673903", "url": "https://glygen.org/publication/PubMed/22673903" } ] }, { "title": "Effects of zinc deficiency and zinc supplementation on homocysteine levels and related enzyme expression in rats.", "journal": "Journal of trace elements in medicine and biology : organ of the Society for Minerals and Trace Elements (GMS)", "date": "2015", "authors": "Jing M, Rech L, Wu Y, Goltz D, Taylor CG, House JD", "evidence": [ { "database": "RefSeq", "id": "NP_110491", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_110491" } ], "reference": [ { "type": "PubMed", "id": "25467853", "url": "https://glygen.org/publication/PubMed/25467853" } ] }, { "title": "Purification and some properties of cobalamin-dependent methionine synthase from rat liver.", "journal": "J. Nutr. Sci. Vitaminol.", "date": "1997", "authors": "Yamada K., Wada M., Maekawa A., Kawata T., Tobimatsu T., Toraya T.", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2Q4", "url": "https://www.uniprot.org/uniprot/Q9Z2Q4" } ], "reference": [ { "type": "PubMed", "id": "9219091", "url": "https://glygen.org/publication/PubMed/9219091" } ] }, { "title": "Cloning, sequencing, and heterologous expression of rat methionine synthase cDNA.", "journal": "Biosci. Biotechnol. Biochem.", "date": "1998", "authors": "Yamada K, Tobimatsu T, Toraya T", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2Q4", "url": "https://www.uniprot.org/uniprot/Q9Z2Q4" } ], "reference": [ { "type": "PubMed", "id": "9972236", "url": "https://glygen.org/publication/PubMed/9972236" } ] } ], "pathway": [ { "id": "rno:81522", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+rno:81522", "resource": "KEGG Pathway" }, { "id": "R-RNO-156581", "name": "Methylation", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-156581", "resource": "Reactome", "description": "Methylation" }, { "id": "R-RNO-1614635", "name": "Sulfur amino acid metabolism", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-1614635", "resource": "Reactome", "description": "Sulfur amino acid metabolism" }, { "id": "R-RNO-9013407", "name": "RHOH GTPase cycle", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-9013407", "resource": "Reactome", "description": "RHOH GTPase cycle" }, { "id": "R-RNO-9759218", "name": "Cobalamin (Cbl) metabolism", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-9759218", "resource": "Reactome", "description": "Cobalamin (Cbl) metabolism" } ], "orthologs": [ { "uniprot_canonical_ac": "A6H5Y3-1", "protein_name": "Methionine synthase", "gene_name": "Mtr", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MKKTLQDEIEAILRKRIMVLDGGMGTMIQRYKLSEEHFQGQEFKDHSRPLKGNNDILSITQPDIIYQIHKEYLLAGADIIETNTFSSTSIAQADYGLEHLAYRMNKCSADVARKAAEEITLQTGVKRFVAGALGPTNKTLSVSPSVERPDYRNITFDELVDAYQEQAKGLLDGRVDILLIETIFDTANAKAALFAIQNLFEENYAPPRPIFISGTIVDKSGRTLSGQTGEAFVTSVSHSDPLCIGLNCSLGAAEMRPFIETIGKCTTAYVLCYPNAGLPNTFGDYDETPSTMATHLKDFAVDGLVNIVGGCCGSTPDHIREIAEAVKKCKPRVPPASVFEGHMLLSGLEPFRIGPYTNFVNIGERCNVAGSRKFAKLIMAGNYEEALSIAKAQVEMGAQVLDINMDDGMLDGPSAMTRFCNSIASEPDIAKVPLCIDSSNFAVIEAGLKCCQGKCIVNSISLKEGEGDFLEKARKIKKFGAAVVVMAFDEEGQATETDVKVNVCTRAYHLLVDKVGFNPNDIIFDPNILTIGTGMEEHNLYAINFIHATRVIKETLPGVRISGGLSNLSFSFRGMEAIREAMHGVFLYHAIKFGMDMGIVNAGNLPVYDAIHKDLLQLCEDLIWNKDSEATEKLLRYAQTHGTGGKKVIQTDEWRNGSIEERLEYALVKGIEKHIVEDTEEARLNGEKYPRPLNIIEGPLMNGMKVVGDLFGAGKMFLPQVIKSARVMKKAVGHLIPFMEKEREEARLINGSVEEEDPYQGTIVLATVKGDVHDIGKNIVGVVLACNNFRVIDLGVMTPCDKILQAALDHKADIIGLSGLITPSLDEMIFVAKEMERLAIKIPLLIGGATTSRTHTAVKIAPRYSAPVIHVLDASKSVVVCSQLLDENLRDDYFEEILEEYEDIRQDHYESLKERKYVPLSQARKHGFHIDWLSEPHPVKPTFIGTQVFEDYNLQKLVDYIDWKPFFDVWQLRGKYPNRGFPKIFNDKAVGEEARKVYNDAQNMLNILISQKKLQARGVVGFWPAQSVQDDIHLYAEGVVPQAAEPIATFYGLRQQAEKDSSSTDPYHCLSDFIAPLHSGVCDYLGLFAVACFGVEELSKTYEDDGDDYSSIMVKALGDRLAEAFAEELHERVRRELWAYSRSEQLGVPDLRRLRYEGIRPAPGYPSQPDHTEKLTMWRLASIEQATGIRLTESLAMAPASAVSGLYFSNVKAKYFAVGKISKDQTEDYALRKNMPVAEVEKWLGPILGYDTD", "length": 1253 }, "evidence": [ { "id": "45225943", "url": "http://www.informatics.jax.org/homology/45225943", "database": "MGI" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "Q99707-1", "protein_name": "Methionine synthase", "gene_name": "MTR", "tax_id": 9606, "organism": "Homo sapiens", "sequence": { "sequence": "MSPALQDLSQPEGLKKTLRDEINAILQKRIMVLDGGMGTMIQREKLNEEHFRGQEFKDHARPLKGNNDILSITQPDVIYQIHKEYLLAGADIIETNTFSSTSIAQADYGLEHLAYRMNMCSAGVARKAAEEVTLQTGIKRFVAGALGPTNKTLSVSPSVERPDYRNITFDELVEAYQEQAKGLLDGGVDILLIETIFDTANAKAALFALQNLFEEKYAPRPIFISGTIVDKSGRTLSGQTGEGFVISVSHGEPLCIGLNCALGAAEMRPFIEIIGKCTTAYVLCYPNAGLPNTFGDYDETPSMMAKHLKDFAMDGLVNIVGGCCGSTPDHIREIAEAVKNCKPRVPPATAFEGHMLLSGLEPFRIGPYTNFVNIGERCNVAGSRKFAKLIMAGNYEEALCVAKVQVEMGAQVLDVNMDDGMLDGPSAMTRFCNLIASEPDIAKVPLCIDSSNFAVIEAGLKCCQGKCIVNSISLKEGEDDFLEKARKIKKYGAAMVVMAFDEEGQATETDTKIRVCTRAYHLLVKKLGFNPNDIIFDPNILTIGTGMEEHNLYAINFIHATKVIKETLPGARISGGLSNLSFSFRGMEAIREAMHGVFLYHAIKSGMDMGIVNAGNLPVYDDIHKELLQLCEDLIWNKDPEATEKLLRYAQTQGTGGKKVIQTDEWRNGPVEERLEYALVKGIEKHIIEDTEEARLNQKKYPRPLNIIEGPLMNGMKIVGDLFGAGKMFLPQVIKSARVMKKAVGHLIPFMEKEREETRVLNGTVEEEDPYQGTIVLATVKGDVHDIGKNIVGVVLGCNNFRVIDLGVMTPCDKILKAALDHKADIIGLSGLITPSLDEMIFVAKEMERLAIRIPLLIGGATTSKTHTAVKIAPRYSAPVIHVLDASKSVVVCSQLLDENLKDEYFEEIMEEYEDIRQDHYESLKERRYLPLSQARKSGFQMDWLSEPHPVKPTFIGTQVFEDYDLQKLVDYIDWKPFFDVWQLRGKYPNRGFPKIFNDKTVGGEARKVYDDAHNMLNTLISQKKLRARGVVGFWPAQSIQDDIHLYAEAAVPQAAEPIATFYGLRQQAEKDSASTEPYYCLSDFIAPLHSGIRDYLGLFAVACFGVEELSKAYEDDGDDYSSIMVKALGDRLAEAFAEELHERVRRELWAYCGSEQLDVADLRRLRYKGIRPAPGYPSQPDHTEKLTMWRLADIEQSTGIRLTESLAMAPASAVSGLYFSNLKSKYFAVGKISKDQVEDYALRKNISVAEVEKWLGPILGYDTD", "length": 1265 }, "evidence": [ { "id": "45225943", "url": "http://www.informatics.jax.org/homology/45225943", "database": "MGI" } ], "common_name": "Human" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 6, "go_terms": [ { "name": "methionine synthase activity", "id": "GO:0008705", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008705", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2Q4", "url": "https://www.uniprot.org/uniprot/Q9Z2Q4" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2Q4", "url": "https://www.uniprot.org/uniprot/Q9Z2Q4" } ], "pmid": "" }, { "name": "amino acid binding", "id": "GO:0016597", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016597", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2Q4", "url": "https://www.uniprot.org/uniprot/Q9Z2Q4" } ], "pmid": "" }, { "name": "methyltransferase activity", "id": "GO:0008168", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008168", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2Q4", "url": "https://www.uniprot.org/uniprot/Q9Z2Q4" } ], "pmid": "" }, { "name": "folic acid binding", "id": "GO:0005542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005542", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2Q4", "url": "https://www.uniprot.org/uniprot/Q9Z2Q4" } ], "pmid": "" }, { "name": "cobalamin binding", "id": "GO:0031419", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031419", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2Q4", "url": "https://www.uniprot.org/uniprot/Q9Z2Q4" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 1, "go_terms": [ { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2Q4", "url": "https://www.uniprot.org/uniprot/Q9Z2Q4" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 12, "go_terms": [ { "name": "cobalamin metabolic process", "id": "GO:0009235", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009235", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2Q4", "url": "https://www.uniprot.org/uniprot/Q9Z2Q4" } ], "pmid": "" }, { "name": "protein methylation", "id": "GO:0006479", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006479", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2Q4", "url": "https://www.uniprot.org/uniprot/Q9Z2Q4" } ], "pmid": "" }, { "name": "tetrahydrofolate metabolic process", "id": "GO:0046653", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046653", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2Q4", "url": "https://www.uniprot.org/uniprot/Q9Z2Q4" } ], "pmid": "" }, { "name": "methionine metabolic process", "id": "GO:0006555", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006555", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2Q4", "url": "https://www.uniprot.org/uniprot/Q9Z2Q4" } ], "pmid": "" }, { "name": "methionine biosynthetic process", "id": "GO:0009086", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009086", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2Q4", "url": "https://www.uniprot.org/uniprot/Q9Z2Q4" } ], "pmid": "" }, { "name": "homocysteine metabolic process", "id": "GO:0050667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050667", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2Q4", "url": "https://www.uniprot.org/uniprot/Q9Z2Q4" } ], "pmid": "" }, { "name": "cellular response to methionine", "id": "GO:0061431", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061431", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2Q4", "url": "https://www.uniprot.org/uniprot/Q9Z2Q4" } ], "pmid": "" }, { "name": "pteridine-containing compound metabolic process", "id": "GO:0042558", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042558", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2Q4", "url": "https://www.uniprot.org/uniprot/Q9Z2Q4" } ], "pmid": "" }, { "name": "response to axon injury", "id": "GO:0048678", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048678", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2Q4", "url": "https://www.uniprot.org/uniprot/Q9Z2Q4" } ], "pmid": "" }, { "name": "cellular response to nitric oxide", "id": "GO:0071732", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071732", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2Q4", "url": "https://www.uniprot.org/uniprot/Q9Z2Q4" } ], "pmid": "" }, { "name": "DNA methylation", "id": "GO:0006306", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006306", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2Q4", "url": "https://www.uniprot.org/uniprot/Q9Z2Q4" } ], "pmid": "" }, { "name": "axon regeneration", "id": "GO:0031103", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031103", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2Q4", "url": "https://www.uniprot.org/uniprot/Q9Z2Q4" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 1234, "end_pos": 1236, "annotation": "n_glycosylation_sequon" }, { "start_pos": 137, "end_pos": 139, "annotation": "n_glycosylation_sequon" }, { "start_pos": 153, "end_pos": 155, "annotation": "n_glycosylation_sequon" }, { "start_pos": 567, "end_pos": 569, "annotation": "n_glycosylation_sequon" }, { "start_pos": 656, "end_pos": 658, "annotation": "n_glycosylation_sequon" }, { "start_pos": 750, "end_pos": 752, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "11172", "name": "", "equation": "(6S)-5-methyl-5,6,7,8-tetrahydrofolate + L-homocysteine = (6S)-5,6,7,8-tetrahydrofolate + L-methionine", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q9Z2Q4-1", "Q99707-1", "A6H5Y3-1", "Q54P92-1" ], "evidence": [ { "id": "11172", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/11172" } ] }, { "id": "R-RNO-174374", "name": "MTR transfers CH3 from MeCbl to HCYS", "equation": "", "summary": "This event has been computationally inferred from an event that has been demonstrated in another species.

The inference is based on the homology mapping from PANTHER. Briefly, reactions for which all involved PhysicalEntities (in input, output and catalyst) have a mapped orthologue/paralogue (for complexes at least 75% of components must have a mapping) are inferred to the other species. High level events are also inferred for these events to allow for easier navigation.

More details and caveats of the event inference in Reactome. For details on PANTHER see also: http://www.pantherdb.org/about.jsp", "cellular_location": "cytosol", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q9Z2Q4-1", "Q498R1-1" ], "evidence": [ { "id": "R-RNO-174374", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-174374" } ] }, { "id": "R-RNO-3149518", "name": "MTRR reduces cob(II)alamin to meCbl", "equation": "", "summary": "This event has been computationally inferred from an event that has been demonstrated in another species.

The inference is based on the homology mapping from PANTHER. Briefly, reactions for which all involved PhysicalEntities (in input, output and catalyst) have a mapped orthologue/paralogue (for complexes at least 75% of components must have a mapping) are inferred to the other species. High level events are also inferred for these events to allow for easier navigation.

More details and caveats of the event inference in Reactome. For details on PANTHER see also: http://www.pantherdb.org/about.jsp", "cellular_location": "cytosol", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q9Z2Q4-1", "Q498R1-1" ], "evidence": [ { "id": "R-RNO-3149518", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-3149518" } ] }, { "id": "R-RNO-3149539", "name": "MTR transfers CH3 group from 5-methyl-THF to cob(I)alamin", "equation": "", "summary": "This event has been computationally inferred from an event that has been demonstrated in another species.

The inference is based on the homology mapping from PANTHER. Briefly, reactions for which all involved PhysicalEntities (in input, output and catalyst) have a mapped orthologue/paralogue (for complexes at least 75% of components must have a mapping) are inferred to the other species. High level events are also inferred for these events to allow for easier navigation.

More details and caveats of the event inference in Reactome. For details on PANTHER see also: http://www.pantherdb.org/about.jsp", "cellular_location": "cytosol", "input_participant_list": [ "R-ALL-200665" ], "output_participant_list": [], "enzyme_list": [ "Q9Z2Q4-1", "Q498R1-1" ], "evidence": [ { "id": "R-RNO-3149539", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-3149539" } ] }, { "id": "R-RNO-3204318", "name": "cob(II)alamin is transferred from MMACHC:MMADHC:cob(II)alamin to MTRR:MTR", "equation": "", "summary": "This event has been computationally inferred from an event that has been demonstrated in another species.

The inference is based on the homology mapping from PANTHER. Briefly, reactions for which all involved PhysicalEntities (in input, output and catalyst) have a mapped orthologue/paralogue (for complexes at least 75% of components must have a mapping) are inferred to the other species. High level events are also inferred for these events to allow for easier navigation.

More details and caveats of the event inference in Reactome. For details on PANTHER see also: http://www.pantherdb.org/about.jsp", "cellular_location": "cytosol", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q9Z2Q4-1", "Q498R1-1", "D4A729-1" ], "evidence": [ { "id": "R-RNO-3204318", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-3204318" } ] }, { "id": "R-RNO-9018758", "name": "RHOH binds effectors at the plasma membrane", "equation": "", "summary": "This event has been computationally inferred from an event that has been demonstrated in another species.

The inference is based on the homology mapping from PANTHER. Briefly, reactions for which all involved PhysicalEntities (in input, output and catalyst) have a mapped orthologue/paralogue (for complexes at least 75% of components must have a mapping) are inferred to the other species. High level events are also inferred for these events to allow for easier navigation.

More details and caveats of the event inference in Reactome. For details on PANTHER see also: http://www.pantherdb.org/about.jsp", "cellular_location": "cytosol, plasma membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q9Z2Q4-1", "Q62868-1", "P35465-1", "P46462-1", "P09527-1", "B2GV15-1", "P32577-1", "Q64303-1", "Q6P9V9-1", "D4A280-1", "Q63644-1", "Q01621-1", "A0A0R4J8U1-1" ], "evidence": [ { "id": "R-RNO-9018758", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-9018758" } ] } ], "reaction_participants": [ { "participant_id": "R-ALL-200665", "participant_name": "5-methyl-THF [cytosol]", "crossref": [ { "id": "000002005305", "database": "ZINC", "url": "" }, { "id": "18608", "database": "ChEBI", "url": "" }, { "id": "000002005305", "database": "ZINC", "url": "" }, { "id": "18608", "database": "ChEBI", "url": "" }, { "id": "18608", "database": "ChEBI", "url": "" }, { "id": "000002005305", "database": "ZINC", "url": "" }, { "id": "000002005305", "database": "ZINC", "url": "" }, { "id": "18608", "database": "ChEBI", "url": "" }, { "id": "18608", "database": "ChEBI", "url": "" }, { "id": "000002005305", "database": "ZINC", "url": "" }, { "id": "18608", "database": "ChEBI", "url": "" }, { "id": "000002005305", "database": "ZINC", "url": "" } ] } ], "reaction_enzymes": [ { "uniprot_ac": "A0A0R4J8U1", "gene_name": "Zap70", "activity": [ { "ec_number": "2.7.10.2", "activity": "ATP + L-tyrosyl-[protein] = ADP + H(+) + O-phospho-L-tyrosyl-[protein].", "evidence": [ { "id": "A0A0R4J8U1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A0A0R4J8U1" } ] }, { "ec_number": "2.7.10.2", "activity": "", "evidence": [ { "id": "A0A0R4J8U1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A0A0R4J8U1" } ] } ] }, { "uniprot_ac": "A6H5Y3", "gene_name": "Mtr", "activity": [ { "ec_number": "2.1.1.13", "activity": "(6S)-5-methyl-5,6,7,8-tetrahydrofolate + L-homocysteine = (6S)-5,6,7,8-tetrahydrofolate + L-methionine.", "evidence": [ { "id": "A6H5Y3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A6H5Y3" } ] }, { "ec_number": "2.1.1.13", "activity": "", "evidence": [ { "id": "A6H5Y3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A6H5Y3" } ] } ] }, { "uniprot_ac": "B2GV15", "gene_name": "Dbt", "activity": [ { "ec_number": "2.3.1.-", "activity": "", "evidence": [ { "id": "B2GV15", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/B2GV15" } ] } ] }, { "uniprot_ac": "D4A280", "gene_name": "Pak5", "activity": [ { "ec_number": "2.7.11.1", "activity": "ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein].", "evidence": [ { "id": "D4A280", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/D4A280" } ] }, { "ec_number": "2.7.11.1", "activity": "", "evidence": [ { "id": "D4A280", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/D4A280" } ] } ] }, { "uniprot_ac": "D4A729", "gene_name": "Mmachc", "activity": [ { "ec_number": "1.16.1.6", "activity": "2 cob(II)alamin-[cyanocobalamin reductase] + 2 hydrogen cyanide + NADP(+) = 2 apo-[cyanocobalamin reductase] + 2 cyanocob(III)alamin + H(+) + NADPH.", "evidence": [ { "id": "D4A729", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/D4A729" } ] }, { "ec_number": "2.5.1.151", "activity": "apo-[alkylcobalamin reductase] + glutathione + methylcob(III)alamin = cob(I)alamin-[alkylcobalamin reductase] + H(+) + S-methyl glutathione.", "evidence": [ { "id": "D4A729", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/D4A729" } ] }, { "ec_number": "1.16.1.6", "activity": "", "evidence": [ { "id": "D4A729", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/D4A729" } ] }, { "ec_number": "2.5.1.151", "activity": "", "evidence": [ { "id": "D4A729", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/D4A729" } ] } ] }, { "uniprot_ac": "P09527", "gene_name": "Rab7a", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P09527", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09527" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P09527", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09527" } ] } ] }, { "uniprot_ac": "P32577", "gene_name": "Csk", "activity": [ { "ec_number": "2.7.10.2", "activity": "ATP + L-tyrosyl-[protein] = ADP + H(+) + O-phospho-L-tyrosyl-[protein].", "evidence": [ { "id": "P32577", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P32577" } ] }, { "ec_number": "2.7.10.2", "activity": "", "evidence": [ { "id": "P32577", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P32577" } ] } ] }, { "uniprot_ac": "P35465", "gene_name": "Pak1", "activity": [ { "ec_number": "2.7.11.1", "activity": "ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein].", "evidence": [ { "id": "P35465", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P35465" } ] }, { "ec_number": "2.7.11.1", "activity": "", "evidence": [ { "id": "P35465", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P35465" } ] } ] }, { "uniprot_ac": "P46462", "gene_name": "Vcp", "activity": [ { "ec_number": "3.6.4.6", "activity": "ATP + H2O = ADP + H(+) + phosphate.", "evidence": [ { "id": "P46462", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P46462" } ] }, { "ec_number": "3.6.4.6", "activity": "", "evidence": [ { "id": "P46462", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P46462" } ] } ] }, { "uniprot_ac": "Q01621", "gene_name": "Lck", "activity": [ { "ec_number": "2.7.10.2", "activity": "ATP + L-tyrosyl-[protein] = ADP + H(+) + O-phospho-L-tyrosyl-[protein].", "evidence": [ { "id": "Q01621", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q01621" } ] }, { "ec_number": "2.7.10.2", "activity": "", "evidence": [ { "id": "Q01621", "database": "UniProtKB", 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