{ "uniprot_canonical_ac": "O96007-1", "uniprot_ac": "O96007", "uniprot_id": "MOC2B_HUMAN", "mass": { "chemical_mass": 20944.0, "monoisotopic_mass": 20944.0 }, "refseq": { "ac": "NP_004522", "name": "molybdopterin synthase catalytic subunit large subunit MOCS2B", "summary": "Eukaryotic molybdoenzymes use a unique molybdenum cofactor (MoCo) consisting of a pterin, termed molybdopterin, and the catalytically active metal molybdenum. MoCo is synthesized from precursor Z by the heterodimeric enzyme molybdopterin synthase. The large and small subunits of molybdopterin synthase are both encoded from this gene by overlapping open reading frames. The proteins were initially thought to be encoded from a bicistronic transcript. They are now thought to be encoded from monocistronic transcripts. Alternatively spliced transcripts have been found for this locus that encode the large and small subunits. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004522" }, "gene_names": [ { "name": "MOCS2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O96007", "id": "O96007" }, { "name": "MCBPE; MOCO1; MOCODB; MPTS", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004522", "id": "NP_004522" }, { "name": "MCBPE", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O96007", "id": "O96007" }, { "name": "MOCO1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O96007", "id": "O96007" }, { "name": "MOCS2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004522", "id": "NP_004522" } ], "protein_names": [ { "name": "Molybdopterin synthase catalytic subunit", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O96007" }, { "name": "2.8.1.12", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O96007" }, { "name": "MOCO1-B", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O96007" }, { "name": "MOCS2B", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O96007" }, { "name": "MPT synthase large subunit", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O96007" }, { "name": "Molybdenum cofactor synthesis protein 2 large subunit", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O96007" }, { "name": "Molybdenum cofactor synthesis protein 2B", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O96007" }, { "name": "Molybdopterin-synthase large subunit", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O96007" }, { "name": "molybdenum cofactor biosynthesis protein E", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_789776", "id": "NP_789776" }, { "name": "molybdopterin synthase catalytic subunit large subunit MOCS2B", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004522", "id": "NP_004522" }, { "name": "molybdopterin synthase sulfur carrier subunit small subunit MOCS2A", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_789776", "id": "NP_789776" } ], "function": [ { "annotation": "Acts as a sulfur carrier required for molybdopterin biosynthesis. Component of the molybdopterin synthase complex that catalyzes the conversion of precursor Z into molybdopterin by mediating the incorporation of 2 sulfur atoms into precursor Z to generate a dithiolene group. In the complex, serves as sulfur donor by being thiocarboxylated (-COSH) at its C-terminus by MOCS3. After interaction with MOCS2B, the sulfur is then transferred to precursor Z to form molybdopterin.", "evidence": [ { "database": "UniProtKB", "id": "E9PKT9", "url": "https://www.uniprot.org/uniprot/E9PKT9#function" }, { "database": "UniProtKB", "id": "MF_03051", "url": "https://www.uniprot.org/uniprot/MF_03051#function" }, { "database": "UniProtKB", "id": "O96033", "url": "https://www.uniprot.org/uniprot/O96033#function" }, { "database": "PubMed", "id": "12732628", "url": "https://glygen.org/publication/PubMed/12732628" } ] }, { "annotation": "Beyond Moco Biosynthesis-Moonlighting Roles of MoaE and MOCS2. Review article Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_789776", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_789776" }, { "database": "PubMed", "id": "35744859", "url": "https://glygen.org/publication/PubMed/35744859" }, { "database": "RefSeq", "id": "NP_004522", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004522" } ] }, { "annotation": "Catalytic subunit of the molybdopterin synthase complex, a complex that catalyzes the conversion of precursor Z into molybdopterin. Acts by mediating the incorporation of 2 sulfur atoms from thiocarboxylated MOCS2A into precursor Z to generate a dithiolene group.", "evidence": [ { "database": "UniProtKB", "id": "O96007", "url": "https://www.uniprot.org/uniprot/O96007#function" }, { "database": "PubMed", "id": "15073332", "url": "https://glygen.org/publication/PubMed/15073332" }, { "database": "UniProtKB", "id": "MF_03052", "url": "https://www.uniprot.org/uniprot/MF_03052#function" }, { "database": "PubMed", "id": "12732628", "url": "https://glygen.org/publication/PubMed/12732628" } ] }, { "annotation": "Eukaryotic molybdoenzymes use a unique molybdenum cofactor (MoCo) consisting of a pterin, termed molybdopterin, and the catalytically active metal molybdenum. MoCo is synthesized from precursor Z by the heterodimeric enzyme molybdopterin synthase. The large and small subunits of molybdopterin synthase are both encoded from this gene by overlapping open reading frames. The proteins were initially thought to be encoded from a bicistronic transcript. They are now thought to be encoded from monocistronic transcripts. Alternatively spliced transcripts have been found for this locus that encode the large and small subunits. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_789776", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_789776" }, { "database": "RefSeq", "id": "NP_004522", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004522" } ] }, { "annotation": "There was undisturbed production of both transcripts, while Western blot analysis demonstrated that MOCS2B, the large subunit, is unstable in the absence of MOCS2A.", "evidence": [ { "database": "RefSeq", "id": "NP_789776", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_789776" }, { "database": "PubMed", "id": "16737835", "url": "https://glygen.org/publication/PubMed/16737835" }, { "database": "RefSeq", "id": "NP_004522", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004522" } ] } ], "disease": [ { "disease_id": "DOID:0111163", "recommended_name": { "id": "DOID:0111163", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111163", "name": "molybdenum cofactor deficiency type B", "description": "A molybdenum cofactor deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MOCS2 gene on chromosome 5q11." }, "synonyms": [ { "id": "DOID:0111163", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111163", "name": "molybdenum cofactor deficiency complementation group B", "description": "" }, { "id": "DOID:0111163", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111163", "name": "MOCOD type B", "description": "" }, { "id": "DOID:0111163", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111163", "name": "MOCODB", "description": "" }, { "id": "DOID:0111163", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111163", "name": "combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type B", "description": "" }, { "id": "MONDO:0009644", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009644", "name": "sulfite oxidase deficiency due to molybdenum cofactor deficiency type B", "description": "" }, { "id": "MONDO:0009644", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009644", "name": "MOCOD type B", "description": "" }, { "id": "MONDO:0009644", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009644", "name": "MOCODB", "description": "" }, { "id": "MONDO:0009644", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009644", "name": "combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type B", "description": "" }, { "id": "MONDO:0009644", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009644", "name": "molybdenum cofactor deficiency B", "description": "" }, { "id": "MONDO:0009644", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009644", "name": "molybdenum cofactor deficiency complementation group B", "description": "" }, { "id": "MONDO:0009644", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009644", "name": "molybdenum cofactor deficiency, complementation group type B", "description": "" }, { "id": "MONDO:0009644", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009644", "name": "sulfite oxidase deficiency due to molybdenum cofactor deficiency type B", "description": "" }, { "id": "MONDO:0009644", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009644", "name": "molybdenum cofactor deficiency type B", "description": "" }, { "id": "MONDO:0009644", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009644", "name": "molybdenum cofactor deficiency, complementation group B", "description": "" }, { "id": "MIM:252160", "resource": "MIM", "url": "https://www.omim.org/entry/252160", "name": "Molybdenum cofactor deficiency, complementation group B", "description": "Molybdenum cofactor deficiency, complementation group B" } ], "evidence": [ { "id": "252160", "database": "MIM", "url": "https://www.omim.org/entry/252160" } ] } ], "snv": [ { "evidence": [ { "id": "O96007", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O96007" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 50, "end_pos": 50, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "A", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "5", "chr_pos": "53102175", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "T50", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] }, { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": 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"https://www.oglcnac.mcw.edu/search/?query_protein=O96007" }, { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" } ] } ], "phosphorylation": [ { "start_pos": 20, "end_pos": 20, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O96007", "url": "https://www.uniprot.org/uniprot/O96007" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "PubMed", "id": "16964243", "url": "https://glygen.org/publication/PubMed/16964243" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" }, { "database": "iPTMnet", "id": "O96007", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O96007" }, { "database": "phospho.ELM", "id": "O96007", "url": "http://phospho.elm.eu.org/byAccession/O96007.html" } ], "site_lbl": "Ser20" } ], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Human molybdopterin synthase gene: identification of a bicistronic transcript with overlapping reading frames.", "journal": "Am. J. Hum. Genet.", "date": "1999", "authors": "Stallmeyer B, Drugeon G, Reiss J, Haenni AL, Mendel RR", "evidence": [ { "database": "UniProtKB", "id": "O96007", "url": "https://www.uniprot.org/uniprot/O96007" }, { "database": "UniProtKB", "id": "O96033", "url": "https://www.uniprot.org/uniprot/O96033" } ], "reference": [ { "type": "PubMed", "id": "10053003", "url": "https://glygen.org/publication/PubMed/10053003" } ] }, { "title": "Human molybdopterin synthase gene: genomic structure and mutations in molybdenum cofactor deficiency type B.", "journal": "Am. J. Hum. Genet.", "date": "1999", "authors": "Reiss J, Dorche C, Stallmeyer B, Mendel RR, Cohen N, Zabot MT", "evidence": [ { "database": "UniProtKB", "id": "O96007", "url": "https://www.uniprot.org/uniprot/O96007" }, { "database": "UniProtKB", "id": "O96033", "url": "https://www.uniprot.org/uniprot/O96033" } ], "reference": [ { "type": "PubMed", "id": "10053004", "url": "https://glygen.org/publication/PubMed/10053004" } ] }, { "title": "Mutation of human molybdenum cofactor sulfurase gene is responsible for classical xanthinuria type II.", "journal": "Biochemical and biophysical research communications", "date": "2001", "authors": "Ichida K, Matsumura T, Sakuma R, Hosoya T, Nishino T", "evidence": [ { "database": "Reactome", "id": "R-HSA-947581", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-947581" } ], "reference": [ { "type": "PubMed", "id": "11302742", "url": "https://glygen.org/publication/PubMed/11302742" } ] }, { "title": "Molybdopterin synthase mutations in a mild case of molybdenum cofactor deficiency.", "journal": "Am. J. Med. Genet.", "date": "2001", "authors": "Johnson JL, Coyne KE, Rajagopalan KV, Van Hove JL, Mackay M, Pitt J, Boneh A", "evidence": [ { "database": "UniProtKB", "id": "O96033", "url": "https://www.uniprot.org/uniprot/O96033" } ], "reference": [ { "type": "PubMed", "id": "11746050", "url": "https://glygen.org/publication/PubMed/11746050" } ] }, { "title": "Mechanistic and mutational studies of Escherichia coli molybdopterin synthase clarify the final step of molybdopterin biosynthesis.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Wuebbens MM, Rajagopalan KV", "evidence": [ { "database": "Reactome", "id": "R-HSA-947581", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-947581" } ], "reference": [ { "type": "PubMed", "id": "12571226", "url": "https://glygen.org/publication/PubMed/12571226" } ] }, { "title": "Mechanistic studies of human molybdopterin synthase reaction and characterization of mutants identified in group B patients of molybdenum cofactor deficiency.", "journal": "J. Biol. Chem.", "date": "2003", "authors": "Leimkuhler S, Freuer A, Araujo JA, Rajagopalan KV, Mendel RR", "evidence": [ { "database": "UniProtKB", "id": "O96007", "url": "https://www.uniprot.org/uniprot/O96007" }, { "database": "UniProtKB", "id": "O96033", "url": "https://www.uniprot.org/uniprot/O96033" }, { "database": "Reactome", "id": "R-HSA-947581", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-947581" } ], "reference": [ { "type": "PubMed", "id": "12732628", "url": "https://glygen.org/publication/PubMed/12732628" } ] }, { "title": "Evidence for the physiological role of a rhodanese-like protein for the biosynthesis of the molybdenum cofactor in humans.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "2004", "authors": "Matthies A, Rajagopalan KV, Mendel RR, Leimkuhler S", "evidence": [ { "database": "UniProtKB", "id": "O96007", "url": "https://www.uniprot.org/uniprot/O96007" }, { "database": "UniProtKB", "id": "O96033", "url": "https://www.uniprot.org/uniprot/O96033" } ], "reference": [ { "type": "PubMed", "id": "15073332", "url": "https://glygen.org/publication/PubMed/15073332" } ] }, { "title": "Molybdenum cofactor biosynthesis in humans: identification of a persulfide group in the rhodanese-like domain of MOCS3 by mass spectrometry.", "journal": "Biochemistry", "date": "2005", "authors": "Matthies A, Nimtz M, Leimkuhler S", "evidence": [ { "database": "UniProtKB", "id": "O96033", "url": "https://www.uniprot.org/uniprot/O96033" } ], "reference": [ { "type": "PubMed", "id": "15910006", "url": "https://glygen.org/publication/PubMed/15910006" } ] }, { "title": "Ten novel mutations in the molybdenum cofactor genes MOCS1 and MOCS2 and in vitro characterization of a MOCS2 mutation that abolishes the binding ability of molybdopterin synthase.", "journal": "Hum. Genet.", "date": "2005", "authors": "Leimkuhler S, Charcosset M, Latour P, Dorche C, Kleppe S, Scaglia F, Szymczak I, Schupp P, Hahnewald R, Reiss J", "evidence": [ { "database": "UniProtKB", "id": "O96007", "url": "https://www.uniprot.org/uniprot/O96007" }, { "database": "UniProtKB", "id": "O96033", "url": "https://www.uniprot.org/uniprot/O96033" } ], "reference": [ { "type": "PubMed", "id": "16021469", "url": "https://glygen.org/publication/PubMed/16021469" } ] }, { "title": "A novel MOCS2 mutation reveals coordinated expression of the small and large subunit of molybdopterin synthase.", "journal": "Mol. Genet. Metab.", "date": "2006", "authors": "Hahnewald R, Leimkuhler S, Vilaseca A, Acquaviva-Bourdain C, Lenz U, Reiss J", "evidence": [ { "database": "UniProtKB", "id": "O96007", "url": "https://www.uniprot.org/uniprot/O96007" }, { "database": "UniProtKB", "id": "O96033", "url": "https://www.uniprot.org/uniprot/O96033" }, { "database": "RefSeq", "id": "NP_004522", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004522" }, { "database": "RefSeq", "id": "NP_789776", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_789776" } ], "reference": [ { "type": "PubMed", "id": "16737835", "url": "https://glygen.org/publication/PubMed/16737835" } ] }, { "title": "A probability-based approach for high-throughput protein phosphorylation analysis and site localization.", "journal": "Nature biotechnology", "date": "2006", "authors": "Beausoleil SA, Villen J, Gerber SA, Rush J, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "O96007", "url": "https://www.uniprot.org/uniprot/O96007" }, { "database": "iPTMnet", "id": "O96007", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O96007" } ], "reference": [ { "type": "PubMed", "id": "16964243", "url": "https://glygen.org/publication/PubMed/16964243" } ] }, { "title": "Site-directed mutagenesis of the active site loop of the rhodanese-like domain of the human molybdopterin synthase sulfurase MOCS3. Major differences in substrate specificity between eukaryotic and bacterial homologs.", "journal": "FEBS J.", "date": "2007", "authors": "Krepinsky K, Leimkuhler S", "evidence": [ { "database": "UniProtKB", "id": "O96033", "url": "https://www.uniprot.org/uniprot/O96033" } ], "reference": [ { "type": "PubMed", "id": "17459099", "url": "https://glygen.org/publication/PubMed/17459099" } ] }, { "title": "The sulfurtransferase activity of Uba4 presents a link between ubiquitin-like protein conjugation and activation of sulfur carrier proteins.", "journal": "Biochemistry", "date": "2008", "authors": "Schmitz J, Chowdhury MM, Hanzelmann P, Nimtz M, Lee EY, Schindelin H, Leimkuhler S", "evidence": [ { "database": "UniProtKB", "id": "O96033", "url": "https://www.uniprot.org/uniprot/O96033" } ], "reference": [ { "type": "PubMed", "id": "18491921", "url": "https://glygen.org/publication/PubMed/18491921" } ] }, { "title": "A novel role for human Nfs1 in the cytoplasm: Nfs1 acts as a sulfur donor for MOCS3, a protein involved in molybdenum cofactor biosynthesis.", "journal": "The Journal of biological chemistry", "date": "2008", "authors": "Marelja Z, Stocklein W, Nimtz M, Leimkuhler S", "evidence": [ { "database": "Reactome", "id": "R-HSA-947581", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-947581" } ], "reference": [ { "type": "PubMed", "id": "18650437", "url": "https://glygen.org/publication/PubMed/18650437" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "O96007", "url": "https://www.uniprot.org/uniprot/O96007" }, { "database": "iPTMnet", "id": "O96007", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O96007" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.", "journal": "Molecular cell", "date": "2008", "authors": "Daub H, Olsen JV, Bairlein M, Gnad F, Oppermann FS, Korner R, Greff Z, Keri G, Stemmann O, Mann M", "evidence": [ { "database": "UniProtKB", "id": "O96007", "url": "https://www.uniprot.org/uniprot/O96007" }, { "database": "iPTMnet", "id": "O96007", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O96007" } ], "reference": [ { "type": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" } ] }, { "title": "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.", "journal": "Science signaling", "date": "2009", "authors": "Mayya V, Lundgren DH, Hwang SI, Rezaul K, Wu L, Eng JK, Rodionov V, Han DK", "evidence": [ { "database": "UniProtKB", "id": "O96007", "url": "https://www.uniprot.org/uniprot/O96007" }, { "database": "iPTMnet", "id": "O96007", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O96007" } ], "reference": [ { "type": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "O96007", "url": "https://www.uniprot.org/uniprot/O96007" }, { "database": "iPTMnet", "id": "O96007", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O96007" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "O96007", "url": "https://www.uniprot.org/uniprot/O96007" }, { "database": "iPTMnet", "id": "O96007", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O96007" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "Proteome wide purification and identification of O-GlcNAc-modified proteins using click chemistry and mass spectrometry.", "journal": "Journal of proteome research", "date": "2013", "authors": "Hahne H, Sobotzki N, Nyberg T, Helm D, Borodkin VS, van Aalten DM, Agnew B, Kuster B", "evidence": [ { "database": "O-GlcNAc Database", "id": "O96007", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O96007" } ], "reference": [ { "type": "PubMed", "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498" } ] }, { "title": "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.", "journal": "Journal of proteomics", "date": "2014", "authors": "Bian Y, Song C, Cheng K, Dong M, Wang F, Huang J, Sun D, Wang L, Ye M, Zou H", "evidence": [ { "database": "UniProtKB", "id": "O96007", "url": "https://www.uniprot.org/uniprot/O96007" }, { "database": "iPTMnet", "id": "O96007", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O96007" } ], "reference": [ { "type": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ] }, { "title": "Beyond Moco Biosynthesis-Moonlighting Roles of MoaE and MOCS2.", "journal": "Molecules (Basel, Switzerland)", "date": "2022", "authors": "Suganuma T", "evidence": [ { "database": "RefSeq", "id": "NP_789776", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_789776" }, { "database": "RefSeq", "id": "NP_004522", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004522" } ], "reference": [ { "type": "PubMed", "id": "35744859", "url": "https://glygen.org/publication/PubMed/35744859" } ] }, { "title": "The two subunits of human molybdopterin synthase: evidence for a bicistronic messenger RNA with overlapping reading frames.", "journal": "Nucleic Acids Res.", "date": "1999", "authors": "Kinghorn J.R., Sloan J., Unkles S.E.", "evidence": [ { "database": "UniProtKB", "id": "O96007", "url": "https://www.uniprot.org/uniprot/O96007" }, { "database": "UniProtKB", "id": "O96033", "url": "https://www.uniprot.org/uniprot/O96033" } ], "reference": [ { "type": "PubMed", "id": "9889283", "url": "https://glygen.org/publication/PubMed/9889283" } ] }, { "title": "The neurotransmitter receptor-anchoring protein gephyrin reconstitutes molybdenum cofactor biosynthesis in bacteria, plants, and mammalian cells.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1999", "authors": "Stallmeyer B, Schwarz G, Schulze J, Nerlich A, Reiss J, Kirsch J, Mendel RR", "evidence": [ { "database": "Reactome", "id": "R-HSA-947581", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-947581" } ], "reference": [ { "type": "PubMed", "id": "9990024", "url": "https://glygen.org/publication/PubMed/9990024" } ] } ], "pathway": [ { "id": "hsa:4338", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:4338", "resource": "KEGG Pathway" }, { "id": "R-HSA-947581", "name": "Molybdenum cofactor biosynthesis", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-947581", "resource": "Reactome", "description": "Molybdenum cofactor biosynthesis" } ], "orthologs": [ { "uniprot_canonical_ac": "Q6AY59-1", "protein_name": "Molybdopterin synthase catalytic subunit", "gene_name": "Mocs2", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": 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