UniProt UniProt http://www.uniprot.org Lafora progressive myoclonus epilepsy: NHLRC1 mutations affect glycogen metabolism. Lafora progressive myoclonus epilepsy: NHLRC1 mutations affect glycogen metabolism. J. Mol. Med. (0946-2716) 2011 imex curation Couarch P., Vernia S., Gourfinkel-An I., Lesca G., Gataullina S., Fedirko E., Trouillard O., Depienne C., Dulac O., Steschenko D., Leguern E., Sanz P., Baulac S. Origin of laforin/ EPM2A according pubmed 14532330 (following cited reference 10 in publication) stephanie.baulac@upmc.fr 26-Feb-2015: Contacted by IntAct-Help. Only protein-protein interactions chlae-cos_7 Cercopithecus aethiops simian cells transformed with SV40 Grivet cos_7 cercopithecus aethiops, by transformation with SV40 confocal microscopy confocal microscopy immunostaining immunostaining Couarch P., Vernia S., Gourfinkel-An I., Lesca G., Gataullina S., Fedirko E., Trouillard O., Depienne C., Dulac O., Steschenko D., Leguern E., Sanz P., Baulac S. Origin of laforin/ EPM2A according pubmed 14532330 (following cited reference 10 in publication) stephanie.baulac@upmc.fr Accepted 2015-FEB-05 by ORCHARD J. Mol. Med. (0946-2716) 2011 imex curation Lafora progressive myoclonus epilepsy: NHLRC1 mutations affect glycogen metabolism. Lafora progressive myoclonus epilepsy: NHLRC1 mutations affect glycogen metabolism. J. Mol. Med. (0946-2716) 2011 imex curation Couarch P., Vernia S., Gourfinkel-An I., Lesca G., Gataullina S., Fedirko E., Trouillard O., Depienne C., Dulac O., Steschenko D., Leguern E., Sanz P., Baulac S. Origin of laforin/ EPM2A according pubmed 14532330 (following cited reference 10 in publication) stephanie.baulac@upmc.fr 26-Feb-2015: Contacted by IntAct-Help. Only protein-protein interactions 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 Couarch P., Vernia S., Gourfinkel-An I., Lesca G., Gataullina S., Fedirko E., Trouillard O., Depienne C., Dulac O., Steschenko D., Leguern E., Sanz P., Baulac S. Origin of laforin/ EPM2A according pubmed 14532330 (following cited reference 10 in publication) stephanie.baulac@upmc.fr Accepted 2015-FEB-05 by ORCHARD J. Mol. Med. (0946-2716) 2011 imex curation epm2a_human Laforin EPM2A Lafora PTPase Glycogen phosphatase Glucan phosphatase protein protein human Homo sapiens Human MRFRFGVVVPPAVAGARPELLVVGSRPELGRWEPRGAVRLRPAGTAAGDGALALQEPGLWLGEVELAAEEAAQDGAEPGRVDTFWYKFLKREPGGELSWEGNGPHHDRCCTYNENNLVDGVYCLPIGHWIEATGHTNEMKHTTDFYFNIAGHQAMHYSRILPNIWLGSCPRQVEHVTIKLKHELGITAVMNFQTEWDIVQNSSGCNRYPEPMTPDTMIKLYREEGLAYIWMPTPDMSTEGRVQMLPQAVCLLHALLEKGHIVYVHCNAGVGRSTAAVCGWLQYVMGWNLRKVQYFLMAKRPAVYIDEEALARAQEDFFQKFGKVRSSVCSL DD79F917262AB458 nhlc1_human E3 ubiquitin-protein ligase NHLRC1 NHLRC1 EPM2B Malin NHL repeat-containing protein 1 RING-type E3 ubiquitin transferase NHLRC1 protein protein human Homo sapiens Human MAAEASESGPALHELMREAEISLLECKVCFEKFGHRQQRRPRNLSCGHVVCLACVAALAHPRTLALECPFCRRACRGCDTSDCLPVLHLIELLGSALRQSPAAHRAAPSAPGALTCHHTFGGWGTLVNPTGLALCPKTGRVVVVHDGRRRVKIFDSGGGCAHQFGEKGDAAQDIRYPVDVTITNDCHVVVTDAGDRSIKVFDFFGQIKLVIGGQFSLPWGVETTPQNGIVVTDAEAGSLHLLDVDFAEGVLRRTERLQAHLCNPRGVAVSWLTGAIAVLEHPLALGTGVCSTRVKVFSSSMQLVGQVDTFGLSLYFPSKITASAVTFDHQGNVIVADTSGPAILCLGKPEEFPVPKPMVTHGLSHPVALTFTKENSLLVLDTASHSIKVYKVDWG 3E8339D00165FBED epm2a-nhlrc1-11 1 4 unspecified role unspecified role neutral component neutral component nucl transfection nucleic acid transfection nucl transfection 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 NHLRC1/EPM2B/malin EPM2 mutations cy46tyr pro69ala,asp146asn and leu261pro also colocalize 3 unspecified role unspecified role neutral component neutral component nucl transfection nucleic acid transfection nucl transfection region myc tag myc tag EUKLISEED epitope tag EUKLISEED epitope tag undetermined undetermined sequence position undetermined undetermined undetermined sequence position undetermined colocalization colocalization 5 epm2a-nhlrc1-14 2 4 unspecified role unspecified role prey prey Q6VVB1:p.Pro69Ala mutation decreasing mutation decreasing interaction hotspot hotspot mutation decreasing certain certain sequence position certain certain certain sequence position certain P A Variant in EPM2 (Epilepsy, progressive myoclonic 2; MIM:254780); dbSNP:rs28940576; UniProt FTId:VAR_019484 Wed May 02 14:57:39 BST 2018 This feature has been corrected as a result of our quality control procedures. The original label was 'pro69ala' Tue Jun 30 16:41:08 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Pro69Ala' Q6VVB1:p.Asp146Asn mutation decreasing mutation decreasing interaction hotspot hotspot mutation decreasing certain certain sequence position certain certain certain sequence position certain D N Variant in EPM2 (Epilepsy, progressive myoclonic 2; MIM:254780); UniProt FTId:VAR_019487 Wed May 02 17:39:04 BST 2018 This feature has been corrected as a result of our quality control procedures. The original label was 'asp146asn' Tue Jun 30 18:16:54 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Asp146Asn' Q6VVB1:p.Cys46Tyr mutation disrupting mutation disrupting interaction mutation disrupting certain certain sequence position certain certain certain sequence position certain C Y Variant in EPM2 (Epilepsy, progressive myoclonic 2; MIM:254780); UniProt FTId:VAR_070793 Wed May 02 19:17:35 BST 2018 This feature has been corrected as a result of our quality control procedures. The original label was 'cys46tyr' Tue Jun 30 19:52:36 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Cys46Tyr' Q6VVB1:p.Leu261Pro mutation disrupting mutation disrupting interaction mutation disrupting certain certain sequence position certain certain certain sequence position certain L P Variant in EPM2 (Epilepsy, progressive myoclonic 2; MIM:254780); UniProt FTId:VAR_070794 Wed May 02 18:21:55 BST 2018 This feature has been corrected as a result of our quality control procedures. The original label was 'leu261pro' Tue Jun 30 17:44:15 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Leu261Pro' 3 unspecified role unspecified role bait bait physical association physical association 6A