bhf-ucl Moderate reduction of Norrin signaling activity associated with the causative missense mutations identified in patients with familial exudative vitreoretinopathy. Moderate reduction of Norrin signaling activity associated with the causative missense mutations identified in patients with familial exudative vitreoretinopathy. Hum. Genet. (0340-6717) 2008 imex curation Qin M., Kondo H., Tahira T., Hayashi K. Cardiac - Interactions involving cardiac related proteins minghui@gen.kyushu-u.ac.jp 22-Nov-2013: Contacted by IntAct-Help. Only protein-protein interactions in vitro In vitro imaging technique imaging technique microscopy predetermined predetermined participant predetermined Qin M., Kondo H., Tahira T., Hayashi K. Cardiac - Interactions involving cardiac related proteins minghui@gen.kyushu-u.ac.jp Accepted 2013-NOV-07 by ORCHARD 22-Nov-2013: Contacted by IntAct-Help. Hum. Genet. (0340-6717) 2008 imex curation fzd4_human Frizzled-4 FZD4 FzE4 protein protein human Homo sapiens Human MAWRGAGPSVPGAPGGVGLSLGLLLQLLLLLGPARGFGDEEERRCDPIRISMCQNLGYNVTKMPNLVGHELQTDAELQLTTFTPLIQYGCSSQLQFFLCSVYVPMCTEKINIPIGPCGGMCLSVKRRCEPVLKEFGFAWPESLNCSKFPPQNDHNHMCMEGPGDEEVPLPHKTPIQPGEECHSVGTNSDQYIWVKRSLNCVLKCGYDAGLYSRSAKEFTDIWMAVWASLCFISTAFTVLTFLIDSSRFSYPERPIIFLSMCYNIYSIAYIVRLTVGRERISCDFEEAAEPVLIQEGLKNTGCAIIFLLMYFFGMASSIWWVILTLTWFLAAGLKWGHEAIEMHSSYFHIAAWAIPAVKTIVILIMRLVDADELTGLCYVGNQNLDALTGFVVAPLFTYLVIGTLFIAAGLVALFKIRSNLQKDGTKTDKLERLMVKIGVFSVLYTVPATCVIACYFYEISNWALFRYSADDSNMAVEMLKIFMSLLVGITSGMWIWSAKTLHTWQKCSNRLVNSGKVKREKRGNGWVKPGKGSETVV E0A83ECEC560A381 ndp_human Norrin NDP EVR2 Norrie disease protein X-linked exudative vitreoretinopathy 2 protein protein protein human Homo sapiens Human MRKHVLAASFSMLSLLVIMGDTDSKTDSSFIMDSDPRRCMRHHYVDSISHPLYKCSSKMVLLARCEGHCSQASRSEPLVSFSTVLKQPFRSSCHCCRPQTSKLKALRLRCSGGMRLTATYRYILSCHCEECNS D219E8B7F957286A fzd4-ndp 1 2 inference inference modeled modelled predetermined predetermined participant predetermined unspecified role unspecified role neutral component neutral component nucl transfection nucleic acid transfection nucl transfection Q9ULV1:p.Met105Val mutation decreasing mutation decreasing interaction hotspot hotspot mutation decreasing deletion analysis deletion analysis certain certain sequence position certain certain certain sequence position certain M V Wed May 02 15:23:12 BST 2018 This feature has been corrected as a result of our quality control procedures. The original label was 'met105val' Tue Jun 30 16:52:26 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Met105Val' required to bind region required to bind necessary binding region required to bind deletion analysis deletion analysis certain certain sequence position certain certain certain sequence position certain Wed Jul 06 16:15:10 BST 2016 Sequence change details about this feature cannot be ascertained or do not fit with the current version of the referenced protein, so they have been deleted as a result of our quality control procedures. The original label was 'try319x' W319X mutation used in this experiment results in a short protein 1-318 aa long which does not bind. This mutation corresponds with a pathologic clinical single nucleotide polymorphism (SNP) mutation rs80358291 chlae-cos_1 Chlorocebus aethiops COS-1 cells Grivet cos_1 CV-1 Simian cells (cercopithecus aethiops) transformed by SV40 3 tag enzyme assay tag visualisation by enzyme assay tag enzyme assay predetermined predetermined participant predetermined unspecified role unspecified role neutral component neutral component protein delivery protein delivery myc myc tag myc tag EUKLISEED epitope tag EUKLISEED epitope tag undetermined undetermined sequence position undetermined undetermined undetermined sequence position undetermined ap fusion protein fusion protein undetermined undetermined sequence position undetermined undetermined undetermined sequence position undetermined Q00604:p.Lys54Asp mutation decreasing mutation decreasing interaction hotspot hotspot mutation decreasing certain certain sequence position certain certain certain sequence position certain K D Wed May 02 16:13:10 BST 2018 This feature has been corrected as a result of our quality control procedures. The original label was 'lys54asp' Tue Jun 30 17:08:48 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Lys54Asp' Q00604:p.Arg115Leu mutation decreasing mutation decreasing interaction hotspot hotspot mutation decreasing deletion analysis deletion analysis certain certain sequence position certain certain certain sequence position certain R L Wed May 02 16:48:04 BST 2018 This feature has been corrected as a result of our quality control procedures. The original label was 'arg115leu' Tue Jun 30 17:18:51 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Arg115Leu' physical association physical association Fig. 2A