UniProt UniProt http://www.uniprot.org Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1). Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1). J. Clin. Invest. (0021-9738) 2003 imex curation Ménasché G., Ho C.H., Sanal O., Feldmann J., Tezcan I., Ersoy F., Houdusse A., Fischer A., de Saint Basile G. Rare diseases - Interactions investigated in the context of Rare genetic disease sbasile@necker.fr 26-Feb-2015: Contacted by IntAct-Help. Only protein-protein interactions human-293t Homo sapiens 293 cells transformed with SV40 large T antigen 293t 293 cells expressing SV40 large T antigen. The original designation of this cell line was 293tsA1609neo. It is not in Cabri,ATCC or HyperCLDB. anti tag coip anti tag coimmunoprecipitation anti tag coip anti tag western anti tag western blot anti tag western Ménasché G., Ho C.H., Sanal O., Feldmann J., Tezcan I., Ersoy F., Houdusse A., Fischer A., de Saint Basile G. Rare diseases - Interactions investigated in the context of Rare genetic disease sbasile@necker.fr Accepted 2015-JAN-30 by ORCHARD J. Clin. Invest. (0021-9738) 2003 imex curation 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-mlph 1 3 unspecified role unspecified role prey prey nucl transfection nucleic acid transfection nucl transfection c-terminus myc tag myc tag EUKLISEED epitope tag EUKLISEED epitope tag c-term range C-terminal range c-term range c-term range C-terminal range c-term range Q9BV36:p.Arg35Trp mutation disrupting mutation disrupting interaction mutation disrupting certain certain sequence position certain certain certain sequence position certain R W Variant in in Griscelli syndrome 3 (GS3) [MIM:609227]; UniProt FTId:VAR_018724 Wed May 02 18:28:35 BST 2018 This feature has been corrected as a result of our quality control procedures. The original label was 'arg35trp' Tue Jun 30 19:47:04 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Arg35Trp' 2 unspecified role unspecified role bait bait nucl transfection nucleic acid transfection nucl transfection region flag tag flag tag FLAG-tagged FLAG DYKDDDDKV epitope tag DYKDDDDKV epitope tag FLAG FLAG-tagged undetermined undetermined sequence position undetermined undetermined undetermined sequence position undetermined physical association physical association 4a mlph-rab27a-3 1 3 unspecified role unspecified role bait bait nucl transfection nucleic acid transfection nucl transfection c-terminus myc tag myc tag EUKLISEED epitope tag EUKLISEED epitope tag c-term range C-terminal range c-term range c-term range C-terminal range c-term range true Q9BV36:p.Arg35Phe mutation disrupting mutation disrupting interaction mutation disrupting certain certain sequence position certain certain certain sequence position certain R F Wed May 02 17:50:00 BST 2018 This feature has been corrected as a result of our quality control procedures. The original label was 'arg35phe' Tue Jun 30 17:30:22 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Arg35Phe' Q9BV36:p.Arg35Lys mutation disrupting mutation disrupting interaction mutation disrupting certain certain sequence position certain certain certain sequence position certain R K Wed May 02 16:00:19 BST 2018 This feature has been corrected as a result of our quality control procedures. The original label was 'arg35lys' Tue Jun 30 19:45:27 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Arg35Lys' Q9BV36:p.Arg35Val mutation disrupting mutation disrupting interaction mutation disrupting certain certain sequence position certain certain certain sequence position certain R V Wed May 02 15:53:19 BST 2018 This feature has been corrected as a result of our quality control procedures. The original label was 'arg35val' Tue Jun 30 18:12:02 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Arg35Val' 2 unspecified role unspecified role prey prey nucl transfection nucleic acid transfection nucl transfection region flag tag flag tag FLAG-tagged FLAG DYKDDDDKV epitope tag DYKDDDDKV epitope tag FLAG FLAG-tagged undetermined undetermined sequence position undetermined undetermined undetermined sequence position undetermined true physical association physical association 4b