IntAct European Bioinformatics Institute IntAct intact http://www.ebi.ac.uk/ http://www.ebi.ac.uk/intact/query/${ac} EBI-[0-9]+|IA:[0-9]+ INTerAction database (IntAct) provides an open source database and toolkit for the storage, presentation and analysis of molecular interactions. http://www.ebi.ac.uk/intact European Bioinformatics Institute; Wellcome Trust Genome Campus; Hinxton, Cambridge; CB10 1SD; United Kingdom http://www.ebi.ac.uk/intact/ Interaction between methionine synthase isoforms and MMACHC: characterization in cblG-variant, cblG and cblC inherited causes of megaloblastic anaemia. Interaction between methionine synthase isoforms and MMACHC: characterization in cblG-variant, cblG and cblC inherited causes of megaloblastic anaemia. Hum. Mol. Genet. (0964-6906) 2013 imex curation Fofou-Caillierez M.B., Mrabet N.T., Chéry C., Dreumont N., Flayac J., Pupavac M., Paoli J., Alberto J.M., Coelho D., Camadro J.M., Feillet F., Watkins D., Fowler B., Rosenblatt D.S., Guéant J.L. Affinomics - Interactions curated for the Affinomics consortium. maybe the "cell lines" - SA/KF etc should have been added as separate cell lines - but these are not "established " cell lines - cant find them on google, ( they are patient derived dermal fibroblasts-maybe the "cell line" corresponds to initials?) - and the mutations would be lost if I did this. jean-louis.gueant@medecine.uhp-nancy.fr 18-Sep-2014: Contacted by IntAct-Help. Only protein-protein interactions human-293 Homo sapiens transformed primary embryonal kidney cells Human 293 Transformed human primary embryonal kidney cells. The Cell type named 293 is synonymous with HEK-293. pla proximity ligation assay pELISA pELISA PLA antibody detection identification by antibody antibody detection Fofou-Caillierez M.B., Mrabet N.T., Chéry C., Dreumont N., Flayac J., Pupavac M., Paoli J., Alberto J.M., Coelho D., Camadro J.M., Feillet F., Watkins D., Fowler B., Rosenblatt D.S., Guéant J.L. Affinomics - Interactions curated for the Affinomics consortium. maybe the "cell lines" - SA/KF etc should have been added as separate cell lines - but these are not "established " cell lines - cant find them on google, ( they are patient derived dermal fibroblasts-maybe the "cell line" corresponds to initials?) - and the mutations would be lost if I did this. jean-louis.gueant@medecine.uhp-nancy.fr Accepted 2014-SEP-17 by ORCHARD Hum. Mol. Genet. (0964-6906) 2013 Only protein-protein interactions imex curation Interaction between methionine synthase isoforms and MMACHC: characterization in cblG-variant, cblG and cblC inherited causes of megaloblastic anaemia. Interaction between methionine synthase isoforms and MMACHC: characterization in cblG-variant, cblG and cblC inherited causes of megaloblastic anaemia. Hum. Mol. Genet. (0964-6906) 2013 imex curation Fofou-Caillierez M.B., Mrabet N.T., Chéry C., Dreumont N., Flayac J., Pupavac M., Paoli J., Alberto J.M., Coelho D., Camadro J.M., Feillet F., Watkins D., Fowler B., Rosenblatt D.S., Guéant J.L. Affinomics - Interactions curated for the Affinomics consortium. maybe the "cell lines" - SA/KF etc should have been added as separate cell lines - but these are not "established " cell lines - cant find them on google, ( they are patient derived dermal fibroblasts-maybe the "cell line" corresponds to initials?) - and the mutations would be lost if I did this. jean-louis.gueant@medecine.uhp-nancy.fr 18-Sep-2014: Contacted by IntAct-Help. Only protein-protein interactions human-fibroblast Homo sapiens normal diploid fibroblasts (HDF0 fibroblast Fibroblast anti bait coip anti bait coimmunoprecipitation anti bait coip western blot western blot Immuno blot Immuno blot Fofou-Caillierez M.B., Mrabet N.T., Chéry C., Dreumont N., Flayac J., Pupavac M., Paoli J., Alberto J.M., Coelho D., Camadro J.M., Feillet F., Watkins D., Fowler B., Rosenblatt D.S., Guéant J.L. Affinomics - Interactions curated for the Affinomics consortium. maybe the "cell lines" - SA/KF etc should have been added as separate cell lines - but these are not "established " cell lines - cant find them on google, ( they are patient derived dermal fibroblasts-maybe the "cell line" corresponds to initials?) - and the mutations would be lost if I did this. jean-louis.gueant@medecine.uhp-nancy.fr Accepted 2014-SEP-17 by ORCHARD Hum. Mol. Genet. (0964-6906) 2013 Only protein-protein interactions imex curation Interaction between methionine synthase isoforms and MMACHC: characterization in cblG-variant, cblG and cblC inherited causes of megaloblastic anaemia. Interaction between methionine synthase isoforms and MMACHC: characterization in cblG-variant, cblG and cblC inherited causes of megaloblastic anaemia. Hum. Mol. Genet. (0964-6906) 2013 imex curation Fofou-Caillierez M.B., Mrabet N.T., Chéry C., Dreumont N., Flayac J., Pupavac M., Paoli J., Alberto J.M., Coelho D., Camadro J.M., Feillet F., Watkins D., Fowler B., Rosenblatt D.S., Guéant J.L. Affinomics - Interactions curated for the Affinomics consortium. maybe the "cell lines" - SA/KF etc should have been added as separate cell lines - but these are not "established " cell lines - cant find them on google, ( they are patient derived dermal fibroblasts-maybe the "cell line" corresponds to initials?) - and the mutations would be lost if I did this. jean-louis.gueant@medecine.uhp-nancy.fr 18-Sep-2014: Contacted by IntAct-Help. Only protein-protein interactions human-fibroblast Homo sapiens normal diploid fibroblasts (HDF0 fibroblast Fibroblast pla proximity ligation assay pELISA pELISA PLA antibody detection identification by antibody antibody detection Fofou-Caillierez M.B., Mrabet N.T., Chéry C., Dreumont N., Flayac J., Pupavac M., Paoli J., Alberto J.M., Coelho D., Camadro J.M., Feillet F., Watkins D., Fowler B., Rosenblatt D.S., Guéant J.L. Affinomics - Interactions curated for the Affinomics consortium. maybe the "cell lines" - SA/KF etc should have been added as separate cell lines - but these are not "established " cell lines - cant find them on google, ( they are patient derived dermal fibroblasts-maybe the "cell line" corresponds to initials?) - and the mutations would be lost if I did this. jean-louis.gueant@medecine.uhp-nancy.fr Accepted 2014-SEP-17 by ORCHARD Hum. Mol. Genet. (0964-6906) 2013 Only protein-protein interactions imex curation meth_human Methionine synthase 5-methyltetrahydrofolate--homocysteine methyltransferase Vitamin-B12 dependent methionine synthase MTR Cobalamin-dependent methionine synthase protein protein human Homo sapiens Human MSPALQDLSQPEGLKKTLRDEINAILQKRIMVLDGGMGTMIQREKLNEEHFRGQEFKDHARPLKGNNDILSITQPDVIYQIHKEYLLAGADIIETNTFSSTSIAQADYGLEHLAYRMNMCSAGVARKAAEEVTLQTGIKRFVAGALGPTNKTLSVSPSVERPDYRNITFDELVEAYQEQAKGLLDGGVDILLIETIFDTANAKAALFALQNLFEEKYAPRPIFISGTIVDKSGRTLSGQTGEGFVISVSHGEPLCIGLNCALGAAEMRPFIEIIGKCTTAYVLCYPNAGLPNTFGDYDETPSMMAKHLKDFAMDGLVNIVGGCCGSTPDHIREIAEAVKNCKPRVPPATAFEGHMLLSGLEPFRIGPYTNFVNIGERCNVAGSRKFAKLIMAGNYEEALCVAKVQVEMGAQVLDVNMDDGMLDGPSAMTRFCNLIASEPDIAKVPLCIDSSNFAVIEAGLKCCQGKCIVNSISLKEGEDDFLEKARKIKKYGAAMVVMAFDEEGQATETDTKIRVCTRAYHLLVKKLGFNPNDIIFDPNILTIGTGMEEHNLYAINFIHATKVIKETLPGARISGGLSNLSFSFRGMEAIREAMHGVFLYHAIKSGMDMGIVNAGNLPVYDDIHKELLQLCEDLIWNKDPEATEKLLRYAQTQGTGGKKVIQTDEWRNGPVEERLEYALVKGIEKHIIEDTEEARLNQKKYPRPLNIIEGPLMNGMKIVGDLFGAGKMFLPQVIKSARVMKKAVGHLIPFMEKEREETRVLNGTVEEEDPYQGTIVLATVKGDVHDIGKNIVGVVLGCNNFRVIDLGVMTPCDKILKAALDHKADIIGLSGLITPSLDEMIFVAKEMERLAIRIPLLIGGATTSKTHTAVKIAPRYSAPVIHVLDASKSVVVCSQLLDENLKDEYFEEIMEEYEDIRQDHYESLKERRYLPLSQARKSGFQMDWLSEPHPVKPTFIGTQVFEDYDLQKLVDYIDWKPFFDVWQLRGKYPNRGFPKIFNDKTVGGEARKVYDDAHNMLNTLISQKKLRARGVVGFWPAQSIQDDIHLYAEAAVPQAAEPIATFYGLRQQAEKDSASTEPYYCLSDFIAPLHSGIRDYLGLFAVACFGVEELSKAYEDDGDDYSSIMVKALGDRLAEAFAEELHERVRRELWAYCGSEQLDVADLRRLRYKGIRPAPGYPSQPDHTEKLTMWRLADIEQSTGIRLTESLAMAPASAVSGLYFSNLKSKYFAVGKISKDQVEDYALRKNISVAEVEKWLGPILGYDTD DIP protein Q99707 original sequence version: 152 B04C26BCBE9A57C2 mmac_human Cyanocobalamin reductase / alkylcobalamin dealkylase MMACHC CblC Cyanocobalamin reductase (cyanide-eliminating) Alkylcobalamin:glutathione S-alkyltransferase Methylmalonic aciduria and homocystinuria type C protein protein protein human Homo sapiens Human MEPKVAELKQKIEDTLCPFGFEVYPFQVAWYNELLPPAFHLPLPGPTLAFLVLSTPAMFDRALKPFLQSCHLRMLTDPVDQCVAYHLGRVRESLPELQIEIIADYEVHPNRRPKILAQTAAHVAGAAYYYQRQDVEADPWGNQRISGVCIHPRFGGWFAIRGVVLLPGIEVPDLPPRKPHDCVPTRADRIALLEGFNFHWRDWTYRDAVTPQERYSEEQKAYFSTPPAQRLALLGLAQPSEKPSSPSPDLPFTTPAPKKPGNPSRARSWLSPRVSPPASPGP 3A7E6BC774CB5D17 mtr-mmachc 2 5 unspecified role unspecified role prey prey Q9Y4U1:p.Arg206Trp mutation decreasing strength mutation decreasing interaction strength mutation decreasing strength certain certain sequence position certain certain certain sequence position certain R W Wed May 02 20:10:07 BST 2018 This feature has been corrected as a result of our quality control procedures. The original label was 'arg206trp' Tue Jun 30 18:38:51 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Arg206Trp' Q9Y4U1:p.Arg161Gln mutation decreasing strength mutation decreasing interaction strength mutation decreasing strength certain certain sequence position certain certain certain sequence position certain R Q Wed May 02 16:15:15 BST 2018 This feature has been corrected as a result of our quality control procedures. The original label was 'arg161gln' Tue Jun 30 17:16:26 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Arg161Gln' arg206trp disease aa variant disease causing amino-acid variant disease aa variant certain certain sequence position certain certain certain sequence position certain arg161gln disease aa variant disease causing amino-acid variant disease aa variant certain certain sequence position certain certain certain sequence position certain 4 unspecified role unspecified role bait bait physical association physical association 4A Fibroblasts from two patients with the "cblC" inborn error of cobalamin metabolism (SA and WG4130 cell lines) showed reduced binding. [SA was a cblC case with compound heterozygosity for c.271dupA, p.R91 > GNsX14 and c.616C > T, p.R206W of MMACHC. WG4130 was a cblC case with compound heterozygosity for c.328delAACC, p.N110EfsX13 and 482G > A, p.R161Q of MMACHC. ] I gave up trying to figure out the exact mutations for these cell lines - the 2 entered are the only 2 given -for proteins- in this publication mmachc-mtr 3 4 unspecified role unspecified role neutral component neutral component Q99707:p.Pro1173Leu mutation increasing strength mutation increasing interaction strength mutation increasing strength certain certain sequence position certain certain certain sequence position certain P L Wed May 02 15:39:13 BST 2018 This feature has been corrected as a result of our quality control procedures. The original label was 'pro1173leu' Tue Jun 30 17:16:21 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Pro1173Leu' 5 unspecified role unspecified role neutral component neutral component Q9Y4U1:p.Arg161Gln mutation decreasing strength mutation decreasing interaction strength mutation decreasing strength certain certain sequence position certain certain certain sequence position certain R Q Wed May 02 19:51:50 BST 2018 This feature has been corrected as a result of our quality control procedures. The original label was 'arg161gln' Tue Jun 30 17:12:57 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Arg161Gln' Q9Y4U1:p.Arg206Trp mutation decreasing strength mutation decreasing interaction strength mutation decreasing strength certain certain sequence position certain certain certain sequence position certain R W Wed May 02 15:33:50 BST 2018 This feature has been corrected as a result of our quality control procedures. The original label was 'arg206trp' Tue Jun 30 16:44:13 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Arg206Trp' proximity proximity close-contact colocalization neighbourhood interaction 4B Fibroblasts from two patients with the "cblC" inborn error of cobalamin metabolism (SA and WG4130 cell lines) showed reduced interaction. Fibroblast from a patient with the "cblG" disorder (KF cell line) showed increased interaction. [SA was a cblC case with compound heterozygosity for c.271dupA, p.R91 > GNsX14 and c.616C > T, p.R206W of MMACHC. WG4130 was a cblC case with compound heterozygosity for c.328delAACC, p.N110EfsX13 and 482G > A, p.R161Q of MMACHC. KF has a MTR homozygous mutation c.3518C > T, p.P1173L.] mmachc-mtr-1 1 4 unspecified role unspecified role neutral component neutral component 5 unspecified role unspecified role neutral component neutral component proximity proximity close-contact colocalization neighbourhood interaction 4B siRNA #24 (targeting the end of exon 24) siRNA #16 (targeting exon 16) siRNA #6 (targeting exon 6)