{"id":"2940b618-dc9e-5c8e-a249-8cc70d0e626c","stable_key":"dc8975b1-95ff-5d9b-be17-a1c04610cca7:mo-mocos-p591s","predicate":"impairs_binding_of","statement":"MOCOS Pro591Ser impaired cofactor binding in the C-terminal domain assay.","claim_class":"mechanistic","status":"source_derived_draft","evidence_grade":"ungraded","direction":"context_dependent","is_public":true,"mechanism_event_id":"28935ebb-7aa2-5f51-bc67-9c19a627d5de","mechanism_event_label":"This variant disrupts the cofactor-binding side of the sulfurase.","subject":{"id":"43b83f0c-8d8e-5969-94f1-1dcc9ce47f4f","slug":"mocos-p591s","display_name":"Human MOCOS p.Pro591Ser","entity_type_key":"protein_state"},"object":{"id":"ac4bcc03-66fb-52c1-b191-9ecb2124659f","slug":"molybdenum-cofactor","display_name":"Molybdenum cofactor / Moco","entity_type_key":"small_molecule"},"evidence_count":1,"mechanism_event":{"id":"28935ebb-7aa2-5f51-bc67-9c19a627d5de","stable_key":"dc8975b1-95ff-5d9b-be17-a1c04610cca7:mo-mocos-p591s-event","event_type":"biochemical_relationship","label":"This variant disrupts the cofactor-binding side of the sulfurase.","description":"MOCOS Pro591Ser impaired cofactor binding in the C-terminal domain assay.","status":"provisional","compartment":null,"participants":[{"entity":{"id":"43b83f0c-8d8e-5969-94f1-1dcc9ce47f4f","slug":"mocos-p591s","display_name":"Human MOCOS p.Pro591Ser","entity_type_key":"protein_state"},"role":"subject","stoichiometry":null,"state_label":"","sequence_order":0,"notes":""},{"entity":{"id":"ac4bcc03-66fb-52c1-b191-9ecb2124659f","slug":"molybdenum-cofactor","display_name":"Molybdenum cofactor / Moco","entity_type_key":"small_molecule"},"role":"target","stoichiometry":null,"state_label":"","sequence_order":1,"notes":""}]},"contexts":[{"dimension":"availability_state","value_text":"machinery_impairment","comparator":null,"unit":null,"notes":"Imported condition classification; unverified.","entity":null},{"dimension":"evidence_span","value_text":"{\"source_cache\": \"artifacts/molybdenum-research/34356852.abstract.txt\", \"locator\": \"Exact primary indexed abstract; zero-based, end-exclusive Unicode character offsets\", \"file_sha256\": \"9a7e4ebde1063db92cef7c8b18753b2d2af12f8f132cad45fc2e3ae00b911f96\", \"start_char\": 0, \"end_char\": 1697, \"text_sha256\": \"9a7e4ebde1063db92cef7c8b18753b2d2af12f8f132cad45fc2e3ae00b911f96\"}","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"experimental_model","value_text":"Xanthinuria families with recombinant human MOCOS-domain assays and a plant XDH homolog assay","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"exposure","value_text":"PLP quantification, cysteine desulfurase assays and Moco/MPT binding","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"limitations","value_text":"Human XDH C150F was functionally modeled using Arabidopsis XDH1 C161S, not purified human C150F; MOCOS assays used isolated domains.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"nutrient_topic","value_text":"Molybdenum research collection; topical membership is not evidence of a direct dietary effect.","comparator":null,"unit":null,"notes":"","entity":{"slug":"molybdenum","display_name":"Molybdenum","entity_type_key":"nutrient_element"}},{"dimension":"organism","value_text":"Human genetics and human MOCOS proteins; plant XDH variant experiment separately","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"plain_language","value_text":"This variant disrupts the cofactor-binding side of the sulfurase.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"primary_references","value_text":"[mo-p34356852] Classical Xanthinuria in Nine Israeli Families and Two Isolated Cases from Germany: Molecular, Biochemical and Population Genetics Aspects. (2021). https://pubmed.ncbi.nlm.nih.gov/34356852/ DOI: 10.3390/biomedicines9070788","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"tissue_or_cell_type","value_text":"Patient samples and purified domains","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"trigger_kind","value_text":"machinery_impairment","comparator":null,"unit":null,"notes":"Imported condition classification; unverified.","entity":null}],"evidence":[{"id":"119b1ce9-3aaf-5cff-8140-e565dded7283","evidence_kind":"source_excerpt","locator":"Lines 560-571","start_line":560,"end_line":571,"excerpt":"### mo-mocos-p591s\nMOCOS Pro591Ser impaired cofactor binding in the C-terminal domain assay.\nCondition category: machinery_impairment\nnutrient_topic: Molybdenum research collection; topical membership is not evidence of a direct dietary effect.\nplain_language: This variant disrupts the cofactor-binding side of the sulfurase.\norganism: Human genetics and human MOCOS proteins; plant XDH variant experiment separately\ntissue_or_cell_type: Patient samples and purified domains\nexperimental_model: Xanthinuria families with recombinant human MOCOS-domain assays and a plant XDH homolog assay\nlimitations: Human XDH C150F was functionally modeled using Arabidopsis XDH1 C161S, not purified human C150F; MOCOS assays used isolated domains.\nexposure: PLP quantification, cysteine desulfurase assays and Moco/MPT binding\nevidence_span: {\"source_cache\": \"artifacts/molybdenum-research/34356852.abstract.txt\", \"locator\": \"Exact primary indexed abstract; zero-based, end-exclusive Unicode character offsets\", \"file_sha256\": \"9a7e4ebde1063db92cef7c8b18753b2d2af12f8f132cad45fc2e3ae00b911f96\", \"start_char\": 0, \"end_char\": 1697, \"text_sha256\": \"9a7e4ebde1063db92cef7c8b18753b2d2af12f8f132cad45fc2e3ae00b911f96\"}\n[mo-p34356852] Classical Xanthinuria in Nine Israeli Families and Two Isolated Cases from Germany: Molecular, Biochemical and Population Genetics Aspects. (2021). https://pubmed.ncbi.nlm.nih.gov/34356852/ DOI: 10.3390/biomedicines9070788","model_system":"Xanthinuria families with recombinant human MOCOS-domain assays and a plant XDH homolog assay","directness":"author_interpretation","verification_status":"source_derived_draft","notes":"Exact curation-document quotation, not publisher quotation. Study references: [mo-p34356852] Classical Xanthinuria in Nine Israeli Families and Two Isolated Cases from Germany: Molecular, Biochemical and Population Genetics Aspects. (2021). https://pubmed.ncbi.nlm.nih.gov/34356852/ DOI: 10.3390/biomedicines9070788","relationship":"supports","weight":1.0,"link_notes":"","source":{"id":"1aa6da60-8284-5252-8dd9-ac2250d5ced5","stable_key":"import-dc8975b1-95ff-5d9b-be17-a1c04610cca7","title":"Molybdenum: cofactor assembly, sulfur metabolism and nutrient interactions (2026-09-17)","document_type":"imported_text","citation_label":"AI-assisted literature curation; primary study URLs and scope retained in the document and extraction. Not publisher full text.","file_path":"","sha256":"143147eb9ac7fe750bdd33bb50d7773bc0cd49cc94faf219aebce3c3d760dd8f","revision_id":"90c2239d-290b-5e16-815a-f94d30569ebd","review_status":"unverified_draft","notes":""}}],"relations":[],"conflicts":[],"corrections":[],"research":null}