UniProt UniProt http://www.uniprot.org 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. 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. Human genetics 2005 imex curation Leimkühler S., Charcosset M., Latour P., Dorche C., Kleppe S., Scaglia F., Szymczak I., Schupp P., Hahnewald R., Reiss J. Rare diseases - Interactions investigated in the context of Rare genetic disease jreiss@gwdg.de 29-Mar-2021: Contacted by IntAct-Help. Only protein-protein interactions imex curation in vitro In vitro enzymatic study enzymatic study predetermined predetermined participant predetermined Leimkühler S., Charcosset M., Latour P., Dorche C., Kleppe S., Scaglia F., Szymczak I., Schupp P., Hahnewald R., Reiss J. Rare diseases - Interactions investigated in the context of Rare genetic disease jreiss@gwdg.de Accepted 2021-JAN-20 AT 09:48 GMT AT 09:48 GMT by KALPANAP Human genetics 2005 Only protein-protein interactions imex curation imex curation Mock publication and experiment for abstract interactions that are not interaction evidences. Mock publication and experiment for abstract interactions that are not interaction evidences. unspecified method 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. 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. Human genetics 2005 imex curation Leimkühler S., Charcosset M., Latour P., Dorche C., Kleppe S., Scaglia F., Szymczak I., Schupp P., Hahnewald R., Reiss J. Rare diseases - Interactions investigated in the context of Rare genetic disease jreiss@gwdg.de 29-Mar-2021: Contacted by IntAct-Help. Only protein-protein interactions imex curation in vitro In vitro molecular sieving molecular sieving Gel Filtration Size Exclusion Chromatography Size Exclusion Chromatography Gel Filtration Sizing column predetermined predetermined participant predetermined Leimkühler S., Charcosset M., Latour P., Dorche C., Kleppe S., Scaglia F., Szymczak I., Schupp P., Hahnewald R., Reiss J. Rare diseases - Interactions investigated in the context of Rare genetic disease jreiss@gwdg.de Accepted 2021-JAN-20 AT 09:48 GMT AT 09:48 GMT by KALPANAP Human genetics 2005 Only protein-protein interactions imex curation imex curation moc2a_human Molybdopterin synthase sulfur carrier subunit MOCS2 MOCO1 MOCO1-A Molybdenum cofactor synthesis protein 2 small subunit Molybdenum cofactor synthesis protein 2A Molybdopterin-synthase small subunit Sulfur carrier protein MOCS2A protein protein human Homo sapiens Human MVPLCQVEVLYFAKSAEITGVRSETISVPQEIKALQLWKEIETRHPGLADVRNQIIFAVRQEYVELGDQLLVLQPGDEIAVIPPISGG BD08B374B615E7BE moc2b_human Molybdopterin synthase catalytic subunit Molybdenum cofactor synthesis protein 2 large subunit Molybdopterin-synthase large subunit Molybdenum cofactor synthesis protein 2B MOCO1-B MOCS2 MCBPE MOCO1 protein protein human Homo sapiens Human MSSLEISSSCFSLETKLPLSPPLVEDSAFEPSRKDMDEVEEKSKDVINFTAEKLSVDEVSQLVISPLCGAISLFVGTTRNNFEGKKVISLEYEAYLPMAENEVRKICSDIRQKWPVKHIAVFHRLGLVPVSEASIIIAVSSAHRAASLEAVSYAIDTLKAKVPIWKKEIYEESSTWKGNKECFWASNS F405256D85621146 precursor z precursor Z cPMP cyclic pyranopterin monophosphate 8-amino-2-hydroxy-4a,5a,9,11,11a,12a-hexahydro[1,3,2]dioxaphosphinino[4',5':5,6]pyrano[3,2-g]pteridine-10,12(4H,6H)-dione 2-oxide small molecule small molecule chemical synthesis Chemical synthesis (Chemical synthesis) mocs2-mocs2-6 3 4 unspecified role unspecified role neutral component neutral component purified purified 5 unspecified role unspecified role neutral component neutral component purified purified O96007:p.Ser188delinsSerTyrSerLeuMetPheLeuGluHisAlaIleLeuThrLeuLeuAsnTyrTyrTyr mutation disrupting strength mutation disrupting interaction strength mutation disrupting strength certain certain sequence position certain certain certain sequence position certain S SYSLMFLEHAILTLLNYYY Mon Mar 01 11:38:05 GMT 2021 This feature has been corrected as a result of our quality control procedures. The original label was 'O96007:p.Ter189Tyrext*19' ecoli Escherichia coli (strain K12) direct interaction direct interaction Fig. 3 MOCS2A is stated to be C-terminally carboxylated mocs2_mocs2_5-1 1 13 enzyme enzyme unspecified role unspecified role purified purified O96007:p.Ser188delinsSerTyrSerLeuMetPheLeuGluHisAlaIleLeuThrLeuLeuAsnTyrTyrTyr mutation disrupting rate mutation disrupting interaction rate mutation disrupting rate certain certain sequence position certain certain certain sequence position certain S SYSLMFLEHAILTLLNYYY 15 Mon Mar 01 10:48:02 GMT 2021 This feature has been corrected as a result of our quality control procedures. The original label was 'O96007:p.Ter189Tyrext*19' O96007:p.Ser188delinsSerTyrSerLeuMetPheLeuGluHisAlaIleLeuThrLeuLeuAsnTyrTyrTyr mutation disrupting rate mutation disrupting interaction rate mutation disrupting rate certain certain sequence position certain certain certain sequence position certain S SYSLMFLEHAILTLLNYYY 17 Mon Mar 01 11:00:08 GMT 2021 This feature has been corrected as a result of our quality control procedures. The original label was 'O96007:p.Ter189Tyrext*19' 6 enzyme target enzyme target substrate substrate unspecified role unspecified role enzymatic reaction enzymatic reaction Biochemical reaction Biochemical reaction 2,4 mocs2-mocs2-5 Molybdopterin synthase complex 2xMOCS2A:2xMOCS2B 4 unspecified role unspecified role moc2b binding region binding region binding-associated region binding region certain certain sequence position certain certain certain sequence position certain 4 unspecified role unspecified role moc2b binding region binding region binding-associated region binding region certain certain sequence position certain certain certain sequence position certain 5 enzyme enzyme moc2a binding region binding region binding-associated region binding region certain certain sequence position certain certain certain sequence position certain moc2b binding region binding region binding-associated region binding region certain certain sequence position certain certain certain sequence position certain 5 enzyme enzyme moc2a binding region binding region binding-associated region binding region certain certain sequence position certain certain certain sequence position certain moc2b binding region binding region binding-associated region binding region certain certain sequence position certain certain certain sequence position certain 23 20 25 22 24 26 physical association physical association human Homo sapiens Human stable complex stable complex physical interaction evidence used in manual assertion physical interaction evidence used in manual assertion IPI inferred from physical interaction Involved in molybdopterin cofactor (Moco) biosynthesis under anaerobic conditions converting molybdopterin precursor Z (CHEBI:52994) to molybdopterin (CHEBI:44074). This requires the incorporation of two sulfur atoms into precursor Z to generate a dithiolene group. Heterotetramer Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [Orphanet:308393]: an autosomal recessive metabolic disorder characterized by neonatal onset of intractable seizures, opisthotonus, and facial dysmorphism associated with hypouricemia and elevated urinary sulfite levels. Affected individuals show severe neurologic damage and often die in early childhood. Accepted 2021-FEB-01 by BMELDAL