{ "uniprot_canonical_ac": "O95396-1", "uniprot_ac": "O95396", "uniprot_id": "MOCS3_HUMAN", "mass": { "chemical_mass": 49669.0, "monoisotopic_mass": 49669.0 }, "refseq": { "ac": "NP_055299", "name": "adenylyltransferase and sulfurtransferase MOCS3", "summary": "Molybdenum cofactor (MoCo) is necessary for the function of all molybdoenzymes. The protein encoded by this gene adenylates and activates molybdopterin synthase, an enzyme required for biosynthesis of MoCo. This gene contains no introns. A pseudogene of this gene is present on chromosome 14. [provided by RefSeq, Nov 2012].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055299" }, "gene_names": [ { "name": "MOCS3", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O95396", "id": "O95396" }, { "name": "MOCS3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055299", "id": "NP_055299" }, { "name": "UBA4", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055299", "id": "NP_055299" }, { "name": "UBA4", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O95396", "id": "O95396" } ], "protein_names": [ { "name": "Adenylyltransferase and sulfurtransferase MOCS3", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O95396" }, { "name": "Adenylyltransferase MOCS3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95396" }, { "name": "MPT synthase sulfurylase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95396" }, { "name": "Molybdenum cofactor synthesis protein 3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95396" }, { "name": "Molybdopterin synthase sulfurylase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95396" }, { "name": "Sulfur carrier protein MOCS2A adenylyltransferase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95396" }, { "name": "Sulfur carrier protein MOCS2A sulfurtransferase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95396" }, { "name": "Sulfurtransferase MOCS3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95396" }, { "name": "UBA4, ubiquitin-activating enzyme E1 homolog; MPT synthase sulfurylase; ubiquitin-like modifier activating enzyme 4; molybdopterin synthase sulfurylase; molybdenum cofactor synthesis protein 3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055299", "id": "NP_055299" }, { "name": "adenylyltransferase and sulfurtransferase MOCS3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055299", "id": "NP_055299" } ], "function": [ { "annotation": "Among the associated variants were two in regions previously unreported for COPD; a low frequency non-synonymous SNP in MOCS3 (rs7269297, pdiscovery=3.08x10(-6), preplication=0.019) and a rare SNP in IFIT3, which emerged in the meta-analysis (rs140549288, pmeta=8.56x10(-6)).", "evidence": [ { "database": "RefSeq", "id": "NP_055299", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055299" }, { "database": "PubMed", "id": "26917578", "url": "https://glygen.org/publication/PubMed/26917578" } ] }, { "annotation": "By different methods, this study identified a MOCS3-independent novel localization of NFS1 at the centrosome.", "evidence": [ { "database": "RefSeq", "id": "NP_055299", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055299" }, { "database": "PubMed", "id": "30817134", "url": "https://glygen.org/publication/PubMed/30817134" } ] }, { "annotation": "Electrospray ionization mass spectrometry performed on a rhodanese-like carboxyl-terminal domain of human MOCS3 provides direct evidence for the formation of persulfide on cysteine residue 412.", "evidence": [ { "database": "RefSeq", "id": "NP_055299", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055299" }, { "database": "PubMed", "id": "15910006", "url": "https://glygen.org/publication/PubMed/15910006" } ] }, { "annotation": "In humans & most eukaryotes thiosulfate is not physiologic sulfur donor for MOCS3, whereas in bacterial homologs, which have arginine at last position of active site loop, thiosulfate can be used as a sulfur source for molybdenum cofactor biosynthesis.", "evidence": [ { "database": "RefSeq", "id": "NP_055299", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055299" }, { "database": "PubMed", "id": "17459099", "url": "https://glygen.org/publication/PubMed/17459099" } ] }, { "annotation": "MOCS3 protein is believed to catalyze both the adenylation and the subsequent generation of a thiocarboxylate group at the C terminus of the smaller subunit of molybdopterin synthase", "evidence": [ { "database": "RefSeq", "id": "NP_055299", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055299" }, { "database": "PubMed", "id": "15073332", "url": "https://glygen.org/publication/PubMed/15073332" } ] }, { "annotation": "Molecular basis for the bifunctional Uba4-Urm1 sulfur-relay system in tRNA thiolation and ubiquitin-like conjugation.", "evidence": [ { "database": "RefSeq", "id": "NP_055299", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055299" }, { "database": "PubMed", "id": "32901956", "url": "https://glygen.org/publication/PubMed/32901956" } ] }, { "annotation": "Molybdenum cofactor (MoCo) is necessary for the function of all molybdoenzymes. The protein encoded by this gene adenylates and activates molybdopterin synthase, an enzyme required for biosynthesis of MoCo. This gene contains no introns. A pseudogene of this gene is present on chromosome 14. [provided by RefSeq, Nov 2012].", "evidence": [ { "database": "RefSeq", "id": "NP_055299", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055299" } ] }, { "annotation": "Plays a central role in 2-thiolation of mcm(5)S(2)U at tRNA wobble positions of cytosolic tRNA(Lys), tRNA(Glu) and tRNA(Gln). Also essential during biosynthesis of the molybdenum cofactor. Acts by mediating the C-terminal thiocarboxylation of sulfur carriers URM1 and MOCS2A. Its N-terminus first activates URM1 and MOCS2A as acyl-adenylates (-COAMP), then the persulfide sulfur on the catalytic cysteine is transferred to URM1 and MOCS2A to form thiocarboxylation (-COSH) of their C-terminus. The reaction probably involves hydrogen sulfide that is generated from the persulfide intermediate and that acts as a nucleophile towards URM1 and MOCS2A. Subsequently, a transient disulfide bond is formed. Does not use thiosulfate as sulfur donor; NFS1 acting as a sulfur donor for thiocarboxylation reactions.", "evidence": [ { "database": "UniProtKB", "id": "O95396", "url": "https://www.uniprot.org/uniprot/O95396#function" }, { "database": "PubMed", "id": "19017811", "url": "https://glygen.org/publication/PubMed/19017811" }, { "database": "PubMed", "id": "15073332", "url": "https://glygen.org/publication/PubMed/15073332" }, { "database": "UniProtKB", "id": "MF_03049", "url": "https://www.uniprot.org/uniprot/MF_03049#function" }, { "database": "PubMed", "id": "30817134", "url": "https://glygen.org/publication/PubMed/30817134" } ] }, { "annotation": "This observation should encourage testing of additional intellectual disability patients with mild abnormalities of sulfite metabolism for MOCS3 mutations.", "evidence": [ { "database": "RefSeq", "id": "NP_055299", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055299" }, { "database": "PubMed", "id": "28544736", "url": "https://glygen.org/publication/PubMed/28544736" } ] } ], "disease": [], "snv": [], "mutagenesis": [ { "start_pos": 239, "end_pos": 239, "sequence_org": "C", "sequence_mut": "A", "comment": "Impairs sulfurtransferase activity.", "evidence": [ { "database": "UniProtKB", "id": "O95396", "url": "https://www.uniprot.org/uniprot/O95396" }, { "database": "PubMed", "id": "15073332", "url": "https://glygen.org/publication/PubMed/15073332" } ] }, { "start_pos": 316, "end_pos": 316, "sequence_org": "C", "sequence_mut": "A", "comment": "Does not affect sulfurtransferase activity.", "evidence": [ { "database": "UniProtKB", "id": "O95396", "url": "https://www.uniprot.org/uniprot/O95396" }, { "database": "PubMed", "id": "15073332", "url": "https://glygen.org/publication/PubMed/15073332" } ] }, { "start_pos": 324, "end_pos": 324, "sequence_org": "C", "sequence_mut": "A", "comment": "Does not affect sulfurtransferase activity.", "evidence": [ { "database": "UniProtKB", "id": "O95396", "url": "https://www.uniprot.org/uniprot/O95396" }, { "database": "PubMed", "id": "15073332", "url": "https://glygen.org/publication/PubMed/15073332" } ] }, { "start_pos": 365, "end_pos": 365, "sequence_org": "C", "sequence_mut": "A", "comment": "Does not affect sulfurtransferase activity.", "evidence": [ { "database": "UniProtKB", "id": "O95396", "url": "https://www.uniprot.org/uniprot/O95396" }, { "database": "PubMed", "id": "15073332", "url": "https://glygen.org/publication/PubMed/15073332" } ] }, { "start_pos": 412, "end_pos": 412, "sequence_org": "C", "sequence_mut": "A", "comment": "Abolishes sulfurtransferase activity.", "evidence": [ { "database": "UniProtKB", "id": "O95396", "url": "https://www.uniprot.org/uniprot/O95396" }, { "database": "PubMed", "id": "15073332", "url": "https://glygen.org/publication/PubMed/15073332" } ] }, { "start_pos": 413, "end_pos": 413, "sequence_org": "K", "sequence_mut": "R", "comment": "Does not affect sulfurtransferase specificity and activity.", "evidence": [ { "database": "UniProtKB", "id": "O95396", "url": "https://www.uniprot.org/uniprot/O95396" }, { "database": "PubMed", "id": "17459099", "url": "https://glygen.org/publication/PubMed/17459099" } ] }, { "start_pos": 414, "end_pos": 414, "sequence_org": "L", "sequence_mut": "K", "comment": "Does not affect sulfurtransferase specificity and activity.", "evidence": [ { "database": "UniProtKB", "id": "O95396", "url": "https://www.uniprot.org/uniprot/O95396" }, { "database": "PubMed", "id": "17459099", "url": "https://glygen.org/publication/PubMed/17459099" } ] }, { "start_pos": 415, "end_pos": 415, "sequence_org": "G", "sequence_mut": "A", "comment": "Does not affect sulfurtransferase specificity and activity.", "evidence": [ { "database": "UniProtKB", "id": "O95396", "url": "https://www.uniprot.org/uniprot/O95396" }, { "database": "PubMed", "id": "17459099", "url": "https://glygen.org/publication/PubMed/17459099" } ] }, { "start_pos": 416, "end_pos": 416, "sequence_org": "N", "sequence_mut": "V", "comment": "Does not affect sulfurtransferase specificity and activity.", "evidence": [ { "database": "UniProtKB", "id": "O95396", "url": "https://www.uniprot.org/uniprot/O95396" }, { "database": "PubMed", "id": "17459099", "url": "https://glygen.org/publication/PubMed/17459099" } ] }, { "start_pos": 417, "end_pos": 417, "sequence_org": "D", "sequence_mut": "R", "comment": "Results in 470-fold increased activity.", "evidence": [ { "database": "UniProtKB", "id": "O95396", "url": "https://www.uniprot.org/uniprot/O95396" }, { "database": "PubMed", "id": "17459099", "url": "https://glygen.org/publication/PubMed/17459099" } ] }, { "start_pos": 417, "end_pos": 417, "sequence_org": "D", "sequence_mut": "T", "comment": "Results in 90-fold increased activity.", "evidence": [ { "database": "UniProtKB", "id": "O95396", "url": "https://www.uniprot.org/uniprot/O95396" }, { "database": "PubMed", "id": "17459099", "url": "https://glygen.org/publication/PubMed/17459099" } ] }, { "start_pos": 458, "end_pos": 458, "sequence_org": "P", "sequence_mut": "G", "comment": "Does not affect sulfurtransferase specificity and activity.", "evidence": [ { "database": "UniProtKB", "id": "O95396", "url": "https://www.uniprot.org/uniprot/O95396" }, { "database": "PubMed", "id": "17459099", "url": "https://glygen.org/publication/PubMed/17459099" } ] }, { "start_pos": 460, "end_pos": 460, "sequence_org": "Y", "sequence_mut": "A", "comment": "Does not affect sulfurtransferase specificity and activity.", "evidence": [ { "database": "UniProtKB", "id": "O95396", "url": "https://www.uniprot.org/uniprot/O95396" }, { "database": "PubMed", "id": "17459099", "url": "https://glygen.org/publication/PubMed/17459099" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "62.22", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000124217", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000124217" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "60.74", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000124217", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000124217" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "64.72", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000124217", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000124217" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "49.96", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000124217", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000124217" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "73.72", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000124217", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000124217" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "69.51", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000124217", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000124217" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "59.09", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000124217", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000124217" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "67.42", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000124217", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000124217" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "63.44", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000124217", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000124217" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "56.71", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000124217", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000124217" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "65.33", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000124217", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000124217" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "65.62", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000124217", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000124217" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "66.65", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000124217", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000124217" } ] } ], "expression_disease": [ { "significant": "No", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O95396", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95396" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": 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"MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, 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"https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O95396", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95396" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor 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"https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", 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{ "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed 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"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" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O95396", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95396" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95396" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { 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"name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": 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"database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "O95396", "url": "https://www.ebi.ac.uk/intact/interactors/id:O95396*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR000594", "url": "https://www.ebi.ac.uk/interpro/entry/IPR000594", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR001763", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001763", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR028885", "url": "https://www.ebi.ac.uk/interpro/entry/IPR028885", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR035985", "url": "https://www.ebi.ac.uk/interpro/entry/IPR035985", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036873", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036873", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR045886", "url": "https://www.ebi.ac.uk/interpro/entry/IPR045886", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:27304", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:27304", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "609277", "url": "http://www.omim.org/entry/609277", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O95396", "url": "https://www.nextprot.org/entry/NX_O95396", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "MIYDALE", "url": "https://omabrowser.org/oma/group/MIYDALE/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "53913at2759", "url": "http://www.orthodb.org/?query=53913at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR10953", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10953", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR10953:SF102", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10953:SF102", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "3I2V", "url": "https://www.rcsb.org/structure/3I2V", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00581", "url": "http://pfam.xfam.org/family/PF00581", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF00899", "url": "http://pfam.xfam.org/family/PF00899", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O95396", "url": "https://pharos.nih.gov/targets/O95396", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O95396", "url": "http://purl.obolibrary.org/obo/PR_O95396", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-947581", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-947581", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_055299", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055299", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "43616", "url": "https://www.rhea-db.org/rhea/43616", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "48612", "url": "https://www.rhea-db.org/rhea/48612", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "O95396", "url": "https://www.uniprot.org/uniprot/O95396", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95396-1", "url": "https://www.uniprot.org/uniprot/O95396-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MASREEVLALQAEVAQREEELNSLKQKLASALLAEQEPQPERLVPVSPLPPKAALSRDEILRYSRQLVLPELGVHGQLRLGTACVLIVGCGGLGCPLAQYLAAAGVGRLGLVDYDVVEMSNLARQVLHGEALAGQAKAFSAAASLRRLNSAVECVPYTQALTPATALDLVRRYDVVADCSDNVPTRYLVNDACVLAGRPLVSASALRFEGQITVYHYDGGPCYRCIFPQPPPAETVTNCADGGVLGVVTGVLGCLQALEVLKIAAGLGPSYSGSLLLFDALRGHFRSIRLRSRRLDCAACGERPTVTDLLDYEAFCGSSATDKCRSLQLLSPEERVSVTDYKRLLDSGAFHLLLDVRPQVEVDICRLPHALHIPLKHLERRDAESLKLLKEAIWEEKQGTQEGAAVPIYVICKLGNDSQKAVKILQSLSAAQELDPLTVRDVVGGLMAWAAKIDGTFPQY", "length": 460, "header": "sp|O95396-1|MOCS3_HUMAN Isoform 1 of Adenylyltransferase and sulfurtransferase MOCS3 OS=Homo sapiens OX=9606 GN=MOCS3 PE=1 SV=1 CANONICAL=O95396-1" }, "isoforms": [ { "isoform_ac": "O95396-1", "url": "", "sequence": { "sequence": "MASREEVLALQAEVAQREEELNSLKQKLASALLAEQEPQPERLVPVSPLPPKAALSRDEILRYSRQLVLPELGVHGQLRLGTACVLIVGCGGLGCPLAQYLAAAGVGRLGLVDYDVVEMSNLARQVLHGEALAGQAKAFSAAASLRRLNSAVECVPYTQALTPATALDLVRRYDVVADCSDNVPTRYLVNDACVLAGRPLVSASALRFEGQITVYHYDGGPCYRCIFPQPPPAETVTNCADGGVLGVVTGVLGCLQALEVLKIAAGLGPSYSGSLLLFDALRGHFRSIRLRSRRLDCAACGERPTVTDLLDYEAFCGSSATDKCRSLQLLSPEERVSVTDYKRLLDSGAFHLLLDVRPQVEVDICRLPHALHIPLKHLERRDAESLKLLKEAIWEEKQGTQEGAAVPIYVICKLGNDSQKAVKILQSLSAAQELDPLTVRDVVGGLMAWAAKIDGTFPQY", "length": 460, "header": "sp|O95396-1|MOCS3_HUMAN Isoform 1 of Adenylyltransferase and sulfurtransferase MOCS3 OS=Homo sapiens OX=9606 GN=MOCS3 PE=1 SV=1 CANONICAL=O95396-1" }, "locus": { "chromosome": "20", "start_pos": 50960222, "end_pos": 50958843, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000244051.3", "url": "https://www.ensembl.org/id/ENST00000244051.3" }, { "database": "Ensembl Peptide", "id": "ENSP00000244051.1", "url": "https://www.ensembl.org/id/ENSP00000244051.1" } ] } } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [ "enzyme" ], "publication": [ { "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": "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": "The Journal of biological chemistry", "date": "2003", "authors": "Leimkuhler S, Freuer A, Araujo JA, Rajagopalan KV, Mendel RR", "evidence": [ { "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": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2004", "authors": "Matthies A, Rajagopalan KV, Mendel RR, Leimkuhler S", "evidence": [ { "database": "UniProtKB", "id": "O95396", "url": "https://www.uniprot.org/uniprot/O95396" }, { "database": "RefSeq", "id": "NP_055299", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055299" } ], "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": "O95396", "url": "https://www.uniprot.org/uniprot/O95396" }, { "database": "RefSeq", "id": "NP_055299", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055299" } ], "reference": [ { "type": "PubMed", "id": "15910006", "url": "https://glygen.org/publication/PubMed/15910006" } ] }, { "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": "The FEBS journal", "date": "2007", "authors": "Krepinsky K, Leimkuhler S", "evidence": [ { "database": "UniProtKB", "id": "O95396", "url": "https://www.uniprot.org/uniprot/O95396" }, { "database": "RefSeq", "id": "NP_055299", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055299" } ], "reference": [ { "type": "PubMed", "id": "17459099", "url": "https://glygen.org/publication/PubMed/17459099" } ] }, { "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": "UniProtKB", "id": "O95396", "url": "https://www.uniprot.org/uniprot/O95396" }, { "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 functional proteomics approach links the ubiquitin-related modifier Urm1 to a tRNA modification pathway.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Schlieker CD, Van der Veen AG, Damon JR, Spooner E, Ploegh HL", "evidence": [ { "database": "UniProtKB", "id": "O95396", "url": "https://www.uniprot.org/uniprot/O95396" } ], "reference": [ { "type": "PubMed", "id": "19017811", "url": "https://glygen.org/publication/PubMed/19017811" } ] }, { "title": "The L-cysteine desulfurase NFS1 is localized in the cytosol where it provides the sulfur for molybdenum cofactor biosynthesis in humans.", "journal": "PLoS ONE", "date": "2013", "authors": "Marelja Zvonimir, Mullick Chowdhury Mita, Dosche Carsten, Hille Carsten, Baumann Otto, L\u00f6hmannsr\u00f6ben Hans-Gerd, Leimk\u00fchler Silke", "evidence": [ { "database": "UniProtKB", "id": "O95396", "url": "https://www.uniprot.org/uniprot/O95396" } ], "reference": [ { "type": "PubMed", "id": "23593335", "url": "https://glygen.org/publication/PubMed/23593335" } ] }, { "title": "Exome-wide analysis of rare coding variation identifies novel associations with COPD and airflow limitation in MOCS3, IFIT3 and SERPINA12.", "journal": "Thorax", "date": "2016", "authors": "Jackson VE, Ntalla I, Sayers I, Morris R, Whincup P, Casas JP, Amuzu A, Choi M, Dale C, Kumari M, Engmann J, Kalsheker N, Chappell S, Guetta-Baranes T, McKeever TM, Palmer CN, Tavendale R, Holloway JW, Sayer AA, Dennison EM, Cooper C, Bafadhel M, Barker B, Brightling C, Bolton CE, John ME, Parker SG, Moffat MF, Wardlaw AJ, Connolly MJ, Porteous DJ, Smith BH, Padmanabhan S, Hocking L, Stirrups KE, Deloukas P, Strachan DP, Hall IP, Tobin MD, Wain LV", "evidence": [ { "database": "RefSeq", "id": "NP_055299", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055299" } ], "reference": [ { "type": "PubMed", "id": "26917578", "url": "https://glygen.org/publication/PubMed/26917578" } ] }, { "title": "Molybdenum cofactor deficiency: Identification of a patient with homozygote mutation in the MOCS3 gene.", "journal": "American journal of medical genetics. Part A", "date": "2017", "authors": "Huijmans JGM, Schot R, de Klerk JBC, Williams M, de Coo RFM, Duran M, Verheijen FW, van Slegtenhorst M, Mancini GMS", "evidence": [ { "database": "RefSeq", "id": "NP_055299", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055299" } ], "reference": [ { "type": "PubMed", "id": "28544736", "url": "https://glygen.org/publication/PubMed/28544736" } ] }, { "title": "Analysis of the Cellular Roles of MOCS3 Identifies a MOCS3-Independent Localization of NFS1 at the Tips of the Centrosome.", "journal": "Biochemistry", "date": "2019", "authors": "Neukranz Y, Kotter A, Beilschmidt L, Marelja Z, Helm M, Graf R, Leimkuhler S", "evidence": [ { "database": "UniProtKB", "id": "O95396", "url": "https://www.uniprot.org/uniprot/O95396" }, { "database": "RefSeq", "id": "NP_055299", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055299" } ], "reference": [ { "type": "PubMed", "id": "30817134", "url": "https://glygen.org/publication/PubMed/30817134" } ] }, { "title": "Molecular basis for the bifunctional Uba4-Urm1 sulfur-relay system in tRNA thiolation and ubiquitin-like conjugation.", "journal": "The EMBO journal", "date": "2020", "authors": "Pabis M, Termathe M, Ravichandran KE, Kienast SD, Krutyholowa R, Sokolowski M, Jankowska U, Grudnik P, Leidel SA, Glatt S", "evidence": [ { "database": "RefSeq", "id": "NP_055299", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055299" } ], "reference": [ { "type": "PubMed", "id": "32901956", "url": "https://glygen.org/publication/PubMed/32901956" } ] }, { "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:27304", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:27304", "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": "A2BDX3-1", "protein_name": "Adenylyltransferase and sulfurtransferase MOCS3", "gene_name": "Mocs3", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MAAPEDVAALQAEITRREEELASLKRRLAAALTAEPEPERPLRVPPPPLAPRAALSRDEILRYSRQLLLPELGVRGQLRLAAAAVLVVGCGGLGCPLAQYLAAAGVGRLGLVDHDVVETSNLARQVLHGEAQAGESKARSAAAALRRLNSAVECVAYPRALAEDWALDLVRGYDVVADCCDNVPTRYLVNDACVLAGRPLVSASALRFEGQMTVYHHDGGPCYRCVFPRPPPPETVTNCADGGVLGAVPGVLGCAQALEVLKIAAGLGSSYSGSMLLFDGLGGHFRRIRLRRRRPDCVVCGQQPTVTRLQDYEAFCGSSATDKCRALKLLCPEERISVTDYKRLLDSGAPHVLLDVRPQVEVDICRLPHSLHIPLSQLERRDADSLKLLGAALRKGKQESQEGVALPVYVICKLGNDSQKAVKVLQSLTAVPELDSLTVQDIVGGLMAWAAKIDGTFPQY", "length": 460 }, "evidence": [ { "id": "45925169", "url": "http://www.informatics.jax.org/homology/45925169", "database": "MGI" }, { "id": "O95396", "url": "https://omabrowser.org/oma/group/O95396/", "database": "OMA" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "D4A8L5-1", "protein_name": "Adenylyltransferase and sulfurtransferase MOCS3", "gene_name": "Mocs3", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MPLPSRAALSRDEILRYSRQLLLPELGVRGQLRLAAASVLVVGCGGLGCPLAQYLAAAGVGRLGLVDHDVVETSNLARQVLHGEAQAGHAKAWSAAAALRRLNSAVEYVPYARALSEAWALDLVRGYDVVADCSDNVPTRYLVNDACVLAGRPLVSASALRFEGQMTVYHYDDGPCYRCVFPRPPPAETVTNCADGGVLGVVPGVLGCVQALEVLKIAAGLGTTYSGSMLLFDGLGGHFRRIRLRRRRPDCVVCGQQPTVTCLKNYEAFCGSSATDKCRSLKLLSPEERISVTDYKRLLDSGVPHVLLDVRPQVEVDICRLQHSLHIPLSLLERRDADSLKLLGAALQEEKRNSQEGAALAVYVICKLGNDSQKAVRVLQSLTAVPELDSLKVQDISGGLMAWAAKIDGTFPQY", "length": 414 }, "evidence": [ { "id": "O95396", "url": "https://omabrowser.org/oma/group/O95396/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "P38820-1", "protein_name": "Adenylyltransferase and sulfurtransferase UBA4", "gene_name": "UBA4", "tax_id": 559292, "organism": "Saccharomyces cerevisiae S288C", "sequence": { "sequence": "MNDYHLEDTTSELEALRLENAQLREQLAKREDSSRDYPLSLEEYQRYGRQMIVEETGGVAGQVKLKNTKVLVVGAGGLGCPALPYLAGAGVGQIGIVDNDVVETSNLHRQVLHDSSRVGMLKCESARQYITKLNPHINVVTYPVRLNSSNAFDIFKGYNYILDCTDSPLTRYLVSDVAVNLGITVVSASGLGTEGQLTILNFNNIGPCYRCFYPTPPPPNAVTSCQEGGVIGPCIGLVGTMMAVETLKLILGIYTNENFSPFLMLYSGFPQQSLRTFKMRGRQEKCLCCGKNRTITKEAIEKGEINYELFCGARNYNVCEPDERISVDAFQRIYKDDEFLAKHIFLDVRPSHHYEISHFPEAVNIPIKNLRDMNGDLKKLQEKLPSVEKDSNIVILCRYGNDSQLATRLLKDKFGFSNVRDVRGGYFKYIDDIDQTIPKY", "length": 440 }, "evidence": [ { "id": "O95396", "url": "https://omabrowser.org/oma/group/O95396/", "database": "OMA" } ], "common_name": "Yeast" }, { "uniprot_canonical_ac": "Q9VLJ8-1", "protein_name": "Adenylyltransferase and sulfurtransferase MOCS3", "gene_name": "Uba4", "tax_id": 7227, "organism": "Drosophila melanogaster", "sequence": { "sequence": "MMESEVDSERTMLKREIAELRAALNQKEQCLRELDSLFSFATRPEQEVVGNDLESPDVAVHTKLTNDDIARYSRQLILPDFGVQGQLKLKNSSVLIVGLGGLGCPAAQYLAAAGCGHLGLVDYDEVERSNFHRQILHSEDRCGMSKAESARIALLELNPHCEIQCHSRMLYPHNAMHIIRGYDVVLDCTDNVPTRYLLSDACVMLSKPLVSGSALKMDGQLTVYNYANGPCYRCIFPVPPPPEAVTNCGDGGVLGAVTGTIGAMQALEAIKVIVGMGDVLAGRLLIFDGGSGVFRNIRIRSKRPNCHMCSAQPLITELINYEMFCGMHATDKNNPMLLLSTDERLSVEDYQQKIQAQPHLLIDVRPTAEFEICQLPEAVNVPLVEILDDSYLKRLGKQLEDKELPIVLVCRRGNDSQIAVQHLRNRFPTHFVRDLIGGLHAWTNSVDPSFPIY", "length": 453 }, "evidence": [ { "id": "O95396", "url": "https://omabrowser.org/oma/group/O95396/", "database": "OMA" } ], "common_name": "Fruit fly" } ], "go_annotation": { "categories": [ { "name": "Biological Process", "total": 6, "go_terms": [ { "name": "tRNA wobble position uridine thiolation", "id": "GO:0002143", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002143", "evidence": [ { "database": "UniProtKB", "id": "O95396", "url": "https://www.uniprot.org/uniprot/O95396" } ], "pmid": "" }, { "name": "tRNA thio-modification", "id": "GO:0034227", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034227", "evidence": [ { "database": "UniProtKB", "id": "O95396", "url": "https://www.uniprot.org/uniprot/O95396" } ], "pmid": "" }, { "name": "tRNA wobble uridine modification", "id": "GO:0002098", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002098", "evidence": [ { "database": "UniProtKB", "id": "O95396", "url": "https://www.uniprot.org/uniprot/O95396" } ], "pmid": "" }, { "name": "Mo-molybdopterin cofactor biosynthetic process", "id": "GO:0006777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006777", "evidence": [ { "database": "UniProtKB", "id": "O95396", "url": "https://www.uniprot.org/uniprot/O95396" } ], "pmid": "" }, { "name": "protein urmylation", "id": "GO:0032447", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032447", "evidence": [ { "database": "UniProtKB", "id": "O95396", "url": "https://www.uniprot.org/uniprot/O95396" } ], "pmid": "" }, { "name": "molybdopterin cofactor metabolic process", "id": "GO:0043545", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043545", "evidence": [ { "database": "UniProtKB", "id": "O95396", "url": "https://www.uniprot.org/uniprot/O95396" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 8, "go_terms": [ { "name": "sulfurtransferase activity", "id": "GO:0016783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016783", "evidence": [ { "database": "UniProtKB", "id": "O95396", "url": "https://www.uniprot.org/uniprot/O95396" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "O95396", "url": "https://www.uniprot.org/uniprot/O95396" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "O95396", "url": "https://www.uniprot.org/uniprot/O95396" } ], "pmid": "" }, { "name": "nucleotidyltransferase activity", "id": "GO:0016779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016779", "evidence": [ { "database": "UniProtKB", "id": "O95396", "url": "https://www.uniprot.org/uniprot/O95396" } ], "pmid": "" }, { "name": "thiosulfate sulfurtransferase activity", "id": "GO:0004792", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004792", "evidence": [ { "database": "UniProtKB", "id": "O95396", "url": "https://www.uniprot.org/uniprot/O95396" } ], "pmid": "" }, { "name": "URM1 activating enzyme activity", "id": "GO:0042292", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042292", "evidence": [ { "database": "UniProtKB", "id": "O95396", "url": "https://www.uniprot.org/uniprot/O95396" } ], "pmid": "" }, { "name": "molybdopterin-synthase sulfurtransferase activity", "id": "GO:0061604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061604", "evidence": [ { "database": "UniProtKB", "id": "O95396", "url": "https://www.uniprot.org/uniprot/O95396" } ], "pmid": "" }, { "name": "molybdopterin-synthase adenylyltransferase activity", "id": "GO:0061605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061605", "evidence": [ { "database": "UniProtKB", "id": "O95396", "url": "https://www.uniprot.org/uniprot/O95396" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 2, "go_terms": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "O95396", "url": "https://www.uniprot.org/uniprot/O95396" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "O95396", "url": "https://www.uniprot.org/uniprot/O95396" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 416, "end_pos": 418, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "43616", "name": "", "equation": "[molybdopterin-synthase sulfur-carrier protein]-C-terminal Gly-Gly + ATP + H(+) = [molybdopterin-synthase sulfur-carrier protein]-C-terminal Gly-Gly-AMP + diphosphate", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "D4A8L5-1", "O95396-1", "A2BDX3-1", "Q55FS0-1", "Q9VLJ8-1" ], "evidence": [ { "id": "43616", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/43616" } ] }, { "id": "48612", "name": "", "equation": "[molybdopterin-synthase sulfur-carrier protein]-C-terminal Gly-Gly-AMP + AH2 + S-sulfanyl-L-cysteinyl-[cysteine desulfurase] = [molybdopterin-synthase sulfur-carrier protein]-C-terminal Gly-NH-CH2-C(O)SH + A + AMP + H(+) + L-cysteinyl-[cysteine desulfurase]", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "D4A8L5-1", "O95396-1", "A2BDX3-1", "Q55FS0-1", "Q9VLJ8-1" ], "evidence": [ { "id": "48612", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/48612" } ] } ], "reaction_participants": [], "reaction_enzymes": [ { "uniprot_ac": "A2BDX3", "gene_name": "Mocs3", "activity": [ { "ec_number": "2.7.7.80", "activity": "[molybdopterin-synthase sulfur-carrier protein]-C-terminal Gly-Gly + ATP + H(+) = [molybdopterin-synthase sulfur-carrier protein]-C-terminal Gly-Gly-AMP + diphosphate.", "evidence": [ { "id": "A2BDX3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A2BDX3" } ] }, { "ec_number": "2.8.1.11", "activity": "[molybdopterin-synthase sulfur-carrier protein]-C-terminal Gly-Gly-AMP + AH2 + S-sulfanyl-L-cysteinyl-[cysteine desulfurase] = [molybdopterin-synthase sulfur-carrier protein]-C-terminal Gly-NH-CH2-C(O)SH + A + AMP + H(+) + L-cysteinyl-[cysteine desulfurase].", "evidence": [ { "id": "A2BDX3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A2BDX3" } ] } ] }, { "uniprot_ac": "D4A8L5", "gene_name": "Mocs3", "activity": [ { "ec_number": "2.7.7.80", "activity": "[molybdopterin-synthase sulfur-carrier protein]-C-terminal Gly-Gly + ATP + H(+) = [molybdopterin-synthase sulfur-carrier protein]-C-terminal Gly-Gly-AMP + diphosphate.", "evidence": [ { "id": "D4A8L5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/D4A8L5" } ] }, { "ec_number": "2.8.1.11", "activity": "[molybdopterin-synthase sulfur-carrier protein]-C-terminal Gly-Gly-AMP + AH2 + S-sulfanyl-L-cysteinyl-[cysteine desulfurase] = [molybdopterin-synthase sulfur-carrier protein]-C-terminal Gly-NH-CH2-C(O)SH + A + AMP + H(+) + L-cysteinyl-[cysteine desulfurase].", "evidence": [ { "id": "D4A8L5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/D4A8L5" } ] } ] }, { "uniprot_ac": "O95396", "gene_name": "MOCS3", "activity": [ { "ec_number": "2.7.7.80", "activity": "[molybdopterin-synthase sulfur-carrier protein]-C-terminal Gly-Gly + ATP + H(+) = [molybdopterin-synthase sulfur-carrier protein]-C-terminal Gly-Gly-AMP + diphosphate.", "evidence": [ { "id": "O95396", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O95396" } ] }, { "ec_number": "2.8.1.11", "activity": "[molybdopterin-synthase sulfur-carrier protein]-C-terminal Gly-Gly-AMP + AH2 + S-sulfanyl-L-cysteinyl-[cysteine desulfurase] = [molybdopterin-synthase sulfur-carrier protein]-C-terminal Gly-NH-CH2-C(O)SH + A + AMP + H(+) + L-cysteinyl-[cysteine desulfurase].", "evidence": [ { "id": "O95396", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O95396" } ] } ] }, { "uniprot_ac": "Q55FS0", "gene_name": "mocs3", "activity": [ { "ec_number": "2.7.7.80", "activity": "[molybdopterin-synthase sulfur-carrier protein]-C-terminal Gly-Gly + ATP + H(+) = [molybdopterin-synthase sulfur-carrier protein]-C-terminal Gly-Gly-AMP + diphosphate.", "evidence": [ { "id": "Q55FS0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q55FS0" } ] }, { "ec_number": "2.8.1.11", "activity": "[molybdopterin-synthase sulfur-carrier protein]-C-terminal Gly-Gly-AMP + AH2 + S-sulfanyl-L-cysteinyl-[cysteine desulfurase] = [molybdopterin-synthase sulfur-carrier protein]-C-terminal Gly-NH-CH2-C(O)SH + A + AMP + H(+) + L-cysteinyl-[cysteine desulfurase].", "evidence": [ { "id": "Q55FS0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q55FS0" } ] } ] }, { "uniprot_ac": "Q9VLJ8", "gene_name": "Uba4", "activity": [ { "ec_number": "2.8.1.-", "activity": "", "evidence": [ { "id": "Q9VLJ8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9VLJ8" } ] }, { "ec_number": "2.7.7.-", "activity": "", "evidence": [ { "id": "Q9VLJ8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9VLJ8" } ] }, { "ec_number": "2.7.7.80", "activity": "[molybdopterin-synthase sulfur-carrier protein]-C-terminal Gly-Gly + ATP + H(+) = [molybdopterin-synthase sulfur-carrier protein]-C-terminal Gly-Gly-AMP + diphosphate.", "evidence": [ { "id": "Q9VLJ8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9VLJ8" } ] }, { "ec_number": "2.8.1.11", "activity": "[molybdopterin-synthase sulfur-carrier protein]-C-terminal Gly-Gly-AMP + AH2 + S-sulfanyl-L-cysteinyl-[cysteine desulfurase] = [molybdopterin-synthase sulfur-carrier protein]-C-terminal Gly-NH-CH2-C(O)SH + A + AMP + H(+) + L-cysteinyl-[cysteine desulfurase].", "evidence": [ { "id": "Q9VLJ8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9VLJ8" } ] } ] } ], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [], "snv_sites": [], "glycation_sites": [], "phosphorylation_sites": [], "sequon_annotation_sites": [ { "start_pos": 416, "end_pos": 418 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 14 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }