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/ http://www.ebi.ac.uk/ fofou_caillierez-2013-1 Interaction between methionine synthase isoforms and MMACHC: characterization in cblG-variant, cblG and cblC inherited causes of megaloblastic anaemia. human-fibroblast Homo sapiens normal diploid fibroblasts (HDF0 fibroblast Fibroblast Resident cell of connective tissue, mesodermally derived 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. jean-louis.gueant@medecine.uhp-nancy.fr Hum. Mol. Genet. (0964-6906) 2013 Only protein-protein interactions imex curation fofou_caillierez-2013-2 Interaction between methionine synthase isoforms and MMACHC: characterization in cblG-variant, cblG and cblC inherited causes of megaloblastic anaemia. human-fibroblast Homo sapiens normal diploid fibroblasts (HDF0 fibroblast Fibroblast Resident cell of connective tissue, mesodermally derived 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. jean-louis.gueant@medecine.uhp-nancy.fr Hum. Mol. Genet. (0964-6906) 2013 Only protein-protein interactions imex curation fofou_caillierez-2013-3 Interaction between methionine synthase isoforms and MMACHC: characterization in cblG-variant, cblG and cblC inherited causes of megaloblastic anaemia. 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. jean-louis.gueant@medecine.uhp-nancy.fr Hum. Mol. Genet. (0964-6906) 2013 Only protein-protein interactions imex curation 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 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 mtr-mmachc 1567310 n/a 1567313 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 false Q9Y4U1:p.Arg161Gln mutation decreasing strength mutation decreasing interaction strength mutation decreasing strength certain certain sequence position certain certain certain sequence position certain false arg206trp disease aa variant disease causing amino-acid variant disease aa variant certain certain sequence position certain certain certain sequence position certain false arg161gln disease aa variant disease causing amino-acid variant disease aa variant certain certain sequence position certain certain certain sequence position certain false n/a 1567314 unspecified role unspecified role bait bait physical association physical association false false false 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. ] mmachc-mtr 1567311 n/a 1567314 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 false n/a 1567313 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 false Q9Y4U1:p.Arg206Trp mutation decreasing strength mutation decreasing interaction strength mutation decreasing strength certain certain sequence position certain certain certain sequence position certain false proximity proximity close-contact colocalization neighbourhood interaction false false false 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 1567312 n/a 1567314 unspecified role unspecified role neutral component neutral component n/a 1567313 unspecified role unspecified role neutral component neutral component proximity proximity close-contact colocalization neighbourhood interaction false false false 4B siRNA #24 (targeting the end of exon 24) siRNA #16 (targeting exon 16) siRNA #6 (targeting exon 6)