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/ Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung disease. Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung disease. The Journal of clinical investigation 2016 imex curation van der Crabben SN., Hennus MP., McGregor GA., Ritter DI., Nagamani SC., Wells OS., Harakalova M., Chinn IK., Alt A., Vondrova L., Hochstenbach R., van Montfrans JM., Terheggen-Lagro SW., van Lieshout S., van Roosmalen MJ., Renkens I., Duran K., Nijman IJ., Kloosterman WP., Hennekam E., Orange JS., van Hasselt PM., Wheeler DA., Palecek JJ., Lehmann AR., Oliver AW., Pearl LH., Plon SE., Murray JM., van Haaften G. Rare diseases - Interactions investigated in the context of Rare genetic disease j.m.murray@sussex.ac.uk 21-Nov-2019: Contacted by IntAct-Help. Only protein-protein interactions imex curation human-u2-os Human U2-OS osteosarcoma cell line u2-os U2-OS osteocaroma cell line Not in CAPRI and no primary literature reference anti tag coip anti tag coimmunoprecipitation anti tag coip anti tag western anti tag western blot anti tag western van der Crabben SN., Hennus MP., McGregor GA., Ritter DI., Nagamani SC., Wells OS., Harakalova M., Chinn IK., Alt A., Vondrova L., Hochstenbach R., van Montfrans JM., Terheggen-Lagro SW., van Lieshout S., van Roosmalen MJ., Renkens I., Duran K., Nijman IJ., Kloosterman WP., Hennekam E., Orange JS., van Hasselt PM., Wheeler DA., Palecek JJ., Lehmann AR., Oliver AW., Pearl LH., Plon SE., Murray JM., van Haaften G. Rare diseases - Interactions investigated in the context of Rare genetic disease j.m.murray@sussex.ac.uk Accepted 2019-NOV-01 AT 14:04 GMT AT 14:04 GMT by LIVIAP The Journal of clinical investigation 2016 Only protein-protein interactions imex curation imex curation Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung disease. Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung disease. The Journal of clinical investigation 2016 imex curation van der Crabben SN., Hennus MP., McGregor GA., Ritter DI., Nagamani SC., Wells OS., Harakalova M., Chinn IK., Alt A., Vondrova L., Hochstenbach R., van Montfrans JM., Terheggen-Lagro SW., van Lieshout S., van Roosmalen MJ., Renkens I., Duran K., Nijman IJ., Kloosterman WP., Hennekam E., Orange JS., van Hasselt PM., Wheeler DA., Palecek JJ., Lehmann AR., Oliver AW., Pearl LH., Plon SE., Murray JM., van Haaften G. Rare diseases - Interactions investigated in the context of Rare genetic disease j.m.murray@sussex.ac.uk 21-Nov-2019: 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 van der Crabben SN., Hennus MP., McGregor GA., Ritter DI., Nagamani SC., Wells OS., Harakalova M., Chinn IK., Alt A., Vondrova L., Hochstenbach R., van Montfrans JM., Terheggen-Lagro SW., van Lieshout S., van Roosmalen MJ., Renkens I., Duran K., Nijman IJ., Kloosterman WP., Hennekam E., Orange JS., van Hasselt PM., Wheeler DA., Palecek JJ., Lehmann AR., Oliver AW., Pearl LH., Plon SE., Murray JM., van Haaften G. Rare diseases - Interactions investigated in the context of Rare genetic disease j.m.murray@sussex.ac.uk Accepted 2019-NOV-01 AT 14:04 GMT AT 14:04 GMT by LIVIAP The Journal of clinical investigation 2016 Only protein-protein interactions imex curation imex curation Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung disease. Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung disease. The Journal of clinical investigation 2016 imex curation van der Crabben SN., Hennus MP., McGregor GA., Ritter DI., Nagamani SC., Wells OS., Harakalova M., Chinn IK., Alt A., Vondrova L., Hochstenbach R., van Montfrans JM., Terheggen-Lagro SW., van Lieshout S., van Roosmalen MJ., Renkens I., Duran K., Nijman IJ., Kloosterman WP., Hennekam E., Orange JS., van Hasselt PM., Wheeler DA., Palecek JJ., Lehmann AR., Oliver AW., Pearl LH., Plon SE., Murray JM., van Haaften G. Rare diseases - Interactions investigated in the context of Rare genetic disease j.m.murray@sussex.ac.uk 21-Nov-2019: Contacted by IntAct-Help. Only protein-protein interactions imex curation yeasx Saccharomyces cerevisiae (Baker's yeast) Baker's yeast 2 hybrid two hybrid 2H 2h Gal4 transcription regeneration two-hybrid yeast two hybrid 2-hybrid classical two hybrid classical two hybrid 2H two-hybrid 2-hybrid Gal4 transcription regeneration 2h yeast two hybrid Y2H Y-2H 2 hybrid predetermined predetermined participant predetermined van der Crabben SN., Hennus MP., McGregor GA., Ritter DI., Nagamani SC., Wells OS., Harakalova M., Chinn IK., Alt A., Vondrova L., Hochstenbach R., van Montfrans JM., Terheggen-Lagro SW., van Lieshout S., van Roosmalen MJ., Renkens I., Duran K., Nijman IJ., Kloosterman WP., Hennekam E., Orange JS., van Hasselt PM., Wheeler DA., Palecek JJ., Lehmann AR., Oliver AW., Pearl LH., Plon SE., Murray JM., van Haaften G. Rare diseases - Interactions investigated in the context of Rare genetic disease NSMCE4 and NSMCE1 constructs were found to be of human origin (pmid: 21364888) j.m.murray@sussex.ac.uk Accepted 2019-NOV-01 AT 14:04 GMT AT 14:04 GMT by LIVIAP The Journal of clinical investigation 2016 Only protein-protein interactions imex curation imex curation smc6_human Structural maintenance of chromosomes protein 6 SMC6 SMC6L1 protein protein human Homo sapiens Human MAKRKEENFSSPKNAKRPRQEELEDFDKDGDEDECKGTTLTAAEVGIIESIHLKNFMCHSMLGPFKFGSNVNFVVGNNGSGKSAVLTALIVGLGGRAVATNRGSSLKGFVKDGQNSADISITLRNRGDDAFKASVYGNSILIQQHISIDGSRSYKLKSATGSVVSTRKEELIAILDHFNIQVDNPVSVLTQEMSKQFLQSKNEGDKYKFFMKATQLEQMKEDYSYIMETKERTKEQIHQGEERLTELKRQCVEKEERFQSIAGLSTMKTNLESLKHEMAWAVVNEIEKQLNAIRDNIKIGEDRAARLDRKMEEQQVRLNEAEQKYKDIQDKLEKISEETNARAPECMALKADVVAKKRAYNEAEVLYNRSLNEYKALKKDDEQLCKRIEELKKSTDQSLEPERLERQKKISWLKERVKAFQNQENSVNQEIEQFQQAIEKDKEEHGKIKREELDVKHALSYNQRQLKELKDSKTDRLKRFGPNVPALLEAIDDAYRQGHFTYKPVGPLGACIHLRDPELALAIESCLKGLLQAYCCHNHADERVLQALMKRFYLPGTSRPPIIVSEFRNEIYDVRHRAAYHPDFPTVLTALEIDNAVVANSLIDMRGIETVLLIKNNSVARAVMQSQKPPKNCREAFTADGDQVFAGRYYSSENTRPKFLSRDVDSEISDLENEVENKTAQILNLQQHLSALEKDIKHNEELLKRCQLHYKELKMKIRKNISEIRELENIEEHQSVDIATLEDEAQENKSKMKMVEEHMEQQKENMEHLKSLKIEAENKYDAIKFKINQLSELADPLKDELNLADSEVDNQKRGKRHYEEKQKEHLDTLNKKKRELDMKEKELEEKMSQARQICPERIEVEKSASILDKEINRLRQKIQAEHASHGDREEIMRQYQEARETYLDLDSKVRTLKKFIKLLGEIMEHRFKTYQQFRRCLTLRCKLYFDNLLSQRAYCGKMNFDHKNETLSISVQPGEGNKAAFNDMRALSGGERSFSTVCFILSLWSIAESPFRCLDEFDVYMDMVNRRIAMDLILKMADSQRFRQFILLTPQSMSSLPSSKLIRILRMSDPERGQTTLPFRPVTQEEDDDQR 03C6F478E34285E6 nse4a_human Non-structural maintenance of chromosomes element 4 homolog A NSMCE4A C10orf86 PP4762 protein protein human Homo sapiens Human MSGDSSGRGPEGRGRGRDPHRDRTRSRSRSRSPLSPRSRRGSARERREAPERPSLEDTEPSDSGDEMMDPASLEAEADQGLCRQIRHQYRALINSVQQNREDILNAGDKLTEVLEEANTLFNEVSRAREAVLDAHFLVLASDLGKEKAKQLRSDLSSFDMLRYVETLLTHMGVNPLEAEELIRDEDSPDFEFIVYDSWKITGRTAENTFNKTHTFHFLLGSIYGECPVPKPRVDRPRKVPVIQEERAMPAQLRRMEESHQEATEKEVERILGLLQTYFREDPDTPMSFFDFVVDPHSFPRTVENIFHVSFIIRDGFARIRLDQDRLPVIEPVSINEENEGFEHNTQVRNQGIIALSYRDWEEIVKTFEISEPVITPSQRQQKPSA 8BB8C54C8A6D0A1E nse3_human Non-structural maintenance of chromosomes element 3 homolog HCA4 Hepatocellular carcinoma-associated protein 4 MAGE-G1 antigen MAGEG1 Melanoma-associated antigen G1 NDNL2 Necdin-like protein 2 NSMCE3 protein protein human Homo sapiens Human MLQKPRNRGRSGGQAERDRDWSHSGNPGASRAGEDARVLRDGFAEEAPSTSRGPGGSQGSQGPSPQGARRAQAAPAVGPRSQKQLELKVSELVQFLLIKDQKKIPIKRADILKHVIGDYKDIFPDLFKRAAERLQYVFGYKLVELEPKSNTYILINTLEPVEEDAEMRGDQGTPTTGLLMIVLGLIFMKGNTIKETEAWDFLRRLGVYPTKKHLIFGDPKKLITEDFVRQRYLEYRRIPHTDPVDYEFQWGPRTNLETSKMKVLKFVAKVHNQDPKDWPAQYCEALADEENRARPQPSGPAPSS C00E2FB2D2CCED7B nse1_human Non-structural maintenance of chromosomes element 1 homolog NSMCE1 HSPC333 HSPC337 protein protein human Homo sapiens Human MQGSTRRMGVMTDVHRRFLQLLMTHGVLEEWDVKRLQTHCYKVHDRNATVDKLEDFINNINSVLESLYIEIKRGVTEDDGRPIYALVNLATTSISKMATDFAENELDLFRKALELIIDSETGFASSTNILNLVDQLKGKKMRKKEAEQVLQKFVQNKWLIEKEGEFTLHGRAILEMEQYIRETYPDAVKICNICHSLLIQGQSCETCGIRMHLPCVAKYFQSNAEPRCPHCNDYWPHEIPKVFDPEKERESGVLKSNKKSLRSRQH 58A3C2AF70FC8F39 eid3-nsmce3-1 3 6 unspecified role unspecified role bait bait over-expressed over expressed level over-expressed living cell living cell Q96MG7:p.Pro209Leu mutation disrupting strength mutation disrupting interaction strength mutation disrupting strength certain certain sequence position certain certain certain sequence position certain P L Tue Jun 30 17:45:41 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Pro209Leu' Q96MG7:p.Leu264Phe mutation disrupting strength mutation disrupting interaction strength mutation disrupting strength certain certain sequence position certain certain certain sequence position certain L F Tue Jun 30 18:44:05 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Leu264Phe' Q96MG7:p.Leu97Ala mutation with no effect mutation with no effect mutation with no effect mutation not affecting interaction certain certain sequence position certain certain certain sequence position certain L A Tue Jun 30 16:16:41 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Leu97Ala' Q96MG7:p.Phe266Ala mutation disrupting strength mutation disrupting interaction strength mutation disrupting strength certain certain sequence position certain certain certain sequence position certain F A Tue Jun 30 18:54:43 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Phe266Ala' region gal4 dna bd gal4 dna binding domain gal4 dna bd undetermined undetermined sequence position undetermined undetermined undetermined sequence position undetermined 5 unspecified role unspecified role prey prey over-expressed over expressed level over-expressed living cell living cell region gal4 ad gal4 activation domain gal4 ad undetermined undetermined sequence position undetermined undetermined undetermined sequence position undetermined physical association physical association Figure 2c nsmce3-eid3-1 3 7 unspecified role unspecified role prey prey over-expressed over expressed level over-expressed living cell living cell region gal4 ad gal4 activation domain gal4 ad undetermined undetermined sequence position undetermined undetermined undetermined sequence position undetermined 6 unspecified role unspecified role bait bait over-expressed over expressed level over-expressed living cell living cell Q96MG7:p.Pro209Leu mutation decreasing strength mutation decreasing interaction strength mutation decreasing strength certain certain sequence position certain certain certain sequence position certain P L Tue Jun 30 18:58:14 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Pro209Leu' Q96MG7:p.Leu264Phe mutation with no effect mutation with no effect mutation with no effect mutation not affecting interaction certain certain sequence position certain certain certain sequence position certain L F Tue Jun 30 18:29:46 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Leu264Phe' Q96MG7:p.Leu97Ala mutation disrupting strength mutation disrupting interaction strength mutation disrupting strength certain certain sequence position certain certain certain sequence position certain L A Tue Jun 30 15:36:03 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Leu97Ala' Q96MG7:p.Phe266Ala mutation with no effect mutation with no effect mutation with no effect mutation not affecting interaction certain certain sequence position certain certain certain sequence position certain F A Tue Jun 30 16:00:03 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Phe266Ala' region gal4 dna bd gal4 dna binding domain gal4 dna bd undetermined undetermined sequence position undetermined undetermined undetermined sequence position undetermined physical association physical association Figure 2c nsmce1-nsmce3-1 2 7 unspecified role unspecified role neutral component neutral component purified purified ecoli Escherichia coli (strain K12) 6 unspecified role unspecified role neutral component neutral component purified purified Q96MG7:p.Leu264Phe mutation with no effect mutation with no effect mutation with no effect mutation not affecting interaction certain certain sequence position certain certain certain sequence position certain L F Tue Jun 30 19:12:14 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Leu264Phe' region his tag his tag Hexa-His-tag 6-His-tag Histidine-tag Hexa-His-tag Histidine-tag 6-His-tag undetermined undetermined sequence position undetermined undetermined undetermined sequence position undetermined ecoli Escherichia coli (strain K12) direct interaction direct interaction Figure 2e nsmce1-nsmce3-2 1 7 unspecified role unspecified role prey prey over-expressed over expressed level over-expressed living cell living cell region myc tag myc tag EUKLISEED epitope tag EUKLISEED epitope tag undetermined undetermined sequence position undetermined undetermined undetermined sequence position undetermined 6 unspecified role unspecified role bait bait over-expressed over expressed level over-expressed living cell living cell region gfp tag green fluorescent protein tag GFP green fluorescent protein GFP green fluorescent protein gfp tag undetermined undetermined sequence position undetermined undetermined undetermined sequence position undetermined Q96MG7:p.Leu264Phe mutation decreasing strength mutation decreasing interaction strength mutation decreasing strength certain certain sequence position certain certain certain sequence position certain L F Tue Jun 30 19:20:17 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Leu264Phe' physical association physical association Figure 2f nsmce3-smc6-1 1 6 unspecified role unspecified role bait bait over-expressed over expressed level over-expressed living cell living cell region gfp tag green fluorescent protein tag GFP green fluorescent protein GFP green fluorescent protein gfp tag undetermined undetermined sequence position undetermined undetermined undetermined sequence position undetermined Q96MG7:p.Leu264Phe mutation disrupting strength mutation disrupting interaction strength mutation disrupting strength certain certain sequence position certain certain certain sequence position certain L F Tue Jun 30 18:49:11 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Leu264Phe' 4 unspecified role unspecified role prey prey living cell living cell physiological level physiological level endogenous level endogenous endogenous endogenous level physical association physical association Figure 2g