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/ Patients with Griscelli syndrome and normal pigmentation identify RAB27A mutations that selectively disrupt MUNC13-4 binding. Patients with Griscelli syndrome and normal pigmentation identify RAB27A mutations that selectively disrupt MUNC13-4 binding. The Journal of allergy and clinical immunology 2015 imex curation Cetica V., Hackmann Y., Grieve S., Sieni E., Ciambotti B., Coniglio ML., Pende D., Gilmour K., Romagnoli P., Griffiths GM., Aricò M. Rare diseases - Interactions investigated in the context of Rare genetic disease gg305@cam.ac.uk,maurizio.arico@asp.rg.it 21-Nov-2019: Contacted by IntAct-Help. Only protein-protein interactions imex curation 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. anti bait coip anti bait coimmunoprecipitation anti bait coip western blot western blot Immuno blot Immuno blot Cetica V., Hackmann Y., Grieve S., Sieni E., Ciambotti B., Coniglio ML., Pende D., Gilmour K., Romagnoli P., Griffiths GM., Aricò M. Rare diseases - Interactions investigated in the context of Rare genetic disease gg305@cam.ac.uk,maurizio.arico@asp.rg.it Accepted 2019-OCT-01 AT 20:19 BST AT 20:19 BST by MGT The Journal of allergy and clinical immunology 2015 Only protein-protein interactions imex curation imex curation un13d_human Protein unc-13 homolog D UNC13D Munc13-4 protein protein human Homo sapiens Human MATLLSHPQQRPPFLRQAIKIRRRRVRDLQDPPPQMAPEIQPPSHHFSPEQRALLYEDALYTVLHRLGHPEPNHVTEASELLRYLQEAFHVEPEEHQQTLQRVRELEKPIFCLKATVKQAKGILGKDVSGFSDPYCLLGIEQGVGVPGGSPGSRHRQKAVVRHTIPEEETHRTQVITQTLNPVWDETFILEFEDITNASFHLDMWDLDTVESVRQKLGELTDLHGLRRIFKEARKDKGQDDFLGNVVLRLQDLRCREDQWYPLEPRTETYPDRGQCHLQFQLIHKRRATSASRSQPSYTVHLHLLQQLVSHEVTQHEAGSTSWDGSLSPQAATVLFLHATQKDLSDFHQSMAQWLAYSRLYQSLEFPSSCLLHPITSIEYQWIQGRLKAEQQEELAASFSSLLTYGLSLIRRFRSVFPLSVSDSPARLQSLLRVLVQMCKMKAFGELCPNTAPLPQLVTEALQTGTTEWFHLKQQHHQPMVQGIPEAGKALLGLVQDVIGDLHQCQRTWDKIFHNTLKIHLFSMAFRELQWLVAKRVQDHTTVVGDVVSPEMGESLFQLYISLKELCQLRMSSSERDGVLALDNFHRWFQPAIPSWLQKTYNEALARVQRAVQMDELVPLGELTKHSTSAVDLSTCFAQISHTARQLDWPDPEEAFMITVKFVEDTCRLALVYCSLIKARARELSSGQKDQGQAANMLCVVVNDMEQLRLVIGKLPAQLAWEALEQRVGAVLEQGQLQNTLHAQLQSALAGLGHEIRTGVRTLAEQLEVGIAKHIQKLVGVRESVLPEDAILPLMKFLEVELCYMNTNLVQENFSSLLTLLWTHTLTVLVEAAASQRSSSLASNRLKIALQNLEICFHAEGCGLPPKALHTATFQALQRDLELQAASSRELIRKYFCSRIQQQAETTSEELGAVTVKASYRASEQKLRVELLSASSLLPLDSNGSSDPFVQLTLEPRHEFPELAARETQKHKKDLHPLFDETFEFLVPAEPCRKAGACLLLTVLDYDTLGADDLEGEAFLPLREVPGLSGSEEPGEVPQTRLPLTYPAPNGDPILQLLEGRKGDREAQVFVRLRRHRAKQASQHALRPAP A71AD7A4E32C940C rb27a_human Ras-related protein Rab-27A GTP-binding protein Ram RAB27A RAB27 protein protein human Homo sapiens Human MSDGDYDYLIKFLALGDSGVGKTSVLYQYTDGKFNSKFITTVGIDFREKRVVYRASGPDGATGRGQRIHLQLWDTAGQERFRSLTTAFFRDAMGFLLLFDLTNEQSFLNVRNWISQLQMHAYCENPDIVLCGNKSDLEDQRVVKEEEAIALAEKYGIPYFETSAANGTNISQAIEMLLDLIMKRMERCVDKSWIPEGVVRSNGHASTDQLSEEKEKGACGC 4A6A0C8C5CC41A20 melph_human Melanophilin MLPH SLAC2A Exophilin-3 Synaptotagmin-like protein 2a Slp homolog lacking C2 domains a protein protein human Homo sapiens Human MGKKLDLSKLTDEEAQHVLEVVQRDFDLRRKEEERLEALKGKIKKESSKRELLSDTAHLNETHCARCLQPYQLLVNSKRQCLECGLFTCKSCGRVHPEEQGWICDPCHLARVVKIGSLEWYYEHVKARFKRFGSAKVIRSLHGRLQGGAGPELISEERSGDSDQTDEDGEPGSEAQAQAQPFGSKKKRLLSVHDFDFEGDSDDSTQPQGHSLHLSSVPEARDSPQSLTDESCSEKAAPHKAEGLEEADTGASGCHSHPEEQPTSISPSRHGALAELCPPGGSHRMALGTAAALGSNVIRNEQLPLQYLADVDTSDEESIRAHVMASHHSKRRGRASSESQIFELNKHISAVECLLTYLENTVVPPLAKGLGAGVRTEADVEEEALRRKLEELTSNVSDQETSSEEEEAKDEKAEPNRDKSVGPLPQADPEVGTAAHQTNRQEKSPQDPGDPVQYNRTTDEELSELEDRVAVTASEVQQAESEVSDIESRIAALRAAGLTVKPSGKPRRKSNLPIFLPRVAGKLGKRPEDPNADPSSEAKAMAVPYLLRRKFSNSLKSQGKDDDSFDRKSVYRGSLTQRNPNARKGMASHTFAKPVVAHQS DIP protein Q9BV36 original sequence version: 130 DIP protein Q9BV36 original sequence version: 65 mint Rab effector protein involved in melanosome transport. Serves as link between melanosome-bound RAB27A and the motor protein MYO5A Defects in MLPH are a cause of Griscelli syndrome type-3 (GS3) [MIM:609227]. GS3 is a rare autosomal recessive disorder characterized by pigmentary dilution of the skin and hair, the presence of large clumps of pigment in hair shafts, and an accumulation of melanosomes in melanocytes, without other clinical manifestations 90F48D0B3250AD98 rab27a-unc13d-1 1 3 unspecified role unspecified role prey prey over-expressed over expressed level over-expressed living cell living cell P51159:p.Ser163Arg mutation decreasing strength mutation decreasing interaction strength mutation decreasing strength certain certain sequence position certain certain certain sequence position certain S R Tue Jun 30 17:09:59 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Ser163Arg' p.Arg141_Val142delinsIle mutation decreasing strength mutation decreasing interaction strength mutation decreasing strength certain certain sequence position certain certain certain sequence position certain RV I P51159:p.Tyr159Cys mutation disrupting strength mutation disrupting interaction strength mutation disrupting strength certain certain sequence position certain certain certain sequence position certain Y C Tue Jun 30 17:16:43 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Tyr159Cys' P51159:p.Gln78Leu mutation mutation certain certain sequence position certain certain certain sequence position certain Q L Tue Jun 30 20:22:09 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Gln78Leu' P51159:p.Ala76Val mutation decreasing strength mutation decreasing interaction strength mutation decreasing strength certain certain sequence position certain certain certain sequence position certain A V Tue Jun 30 16:04:45 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Ala76Val' 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 2 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 physical association physical association Fig 3a, 3c mlph-rab27a-7 1 4 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 3 unspecified role unspecified role prey prey over-expressed over expressed level over-expressed living cell living cell P51159:p.Gln78Leu mutation mutation certain certain sequence position certain certain certain sequence position certain Q L Tue Jun 30 19:05:04 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Gln78Leu' P51159:p.Tyr159Cys 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 Y C Tue Jun 30 16:58:55 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Tyr159Cys' P51159:p.Ser163Arg mutation decreasing strength mutation decreasing interaction strength mutation decreasing strength certain certain sequence position certain certain certain sequence position certain S R Tue Jun 30 17:09:35 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Ser163Arg' p.Arg141_Val142delinsIle 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 RV I 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 P51159:p.Ala76Val 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 A V Tue Jun 30 16:52:54 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Ala76Val' physical association physical association Fig 3b, 3d