DIP Database of Interacting Proteins 611 Young Drive East; Los Angeles CA 90095; USA http://dip.doe-mbi.ucla.edu/ dip@mbi.ucla.edu Biochemical and functional characterization of Rab27a mutations occurring in Griscelli syndrome patients. Biochemical and functional characterization of Rab27a mutations occurring in Griscelli syndrome patients. Blood 2003 imex curation Menasche G., Feldmann J., Houdusse A., Desaymard C., Fischer A., Goud B., de Saint Basile G. Only protein-protein interactions human Homo sapiens Human anti tag coip anti tag coimmunoprecipitation anti tag coip anti tag western anti tag western blot anti tag western Menasche G., Feldmann J., Houdusse A., Desaymard C., Fischer A., Goud B., de Saint Basile G. DIP original experiment: DIP-266689X Blood 2003 IMEx Biochemical and functional characterization of Rab27a mutations occurring in Griscelli syndrome patients. Biochemical and functional characterization of Rab27a mutations occurring in Griscelli syndrome patients. Biochemical and functional characterization of Rab27a mutations occurring in Griscelli syndrome patients. Blood 2003 imex curation Menasche G., Feldmann J., Houdusse A., Desaymard C., Fischer A., Goud B., de Saint Basile G. Only protein-protein interactions human Homo sapiens Human anti tag coip anti tag coimmunoprecipitation anti tag coip anti tag western anti tag western blot anti tag western Menasche G., Feldmann J., Houdusse A., Desaymard C., Fischer A., Goud B., de Saint Basile G. DIP original experiment: DIP-266688X Blood 2003 IMEx Biochemical and functional characterization of Rab27a mutations occurring in Griscelli syndrome patients. p51159-1 Ras-related protein Rab-27A GTP-binding protein Ram RAB27A RAB27 protein protein human Homo sapiens Human MSDGDYDYLIKFLALGDSGVGKTSVLYQYTDGKFNSKFITTVGIDFREKRVVYRASGPDGATGRGQRIHLQLWDTAGQERFRSLTTAFFRDAMGFLLLFDLTNEQSFLNVRNWISQLQMHAYCENPDIVLCGNKSDLEDQRVVKEEEAIALAEKYGIPYFETSAANGTNISQAIEMLLDLIMKRMERCVDKSWIPEGVVRSNGHASTDQLSEEKEKGACGC DIP protein P51159-1 original sequence version: 158 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 2 4 unspecified role unspecified role prey prey Myc-tag Myc-tag 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 Region 1-146 Region 1-146 sufficient to bind sufficient binding region sufficient to bind certain certain sequence position certain certain certain sequence position certain human Homo sapiens Human 3 unspecified role unspecified role bait bait P51159-1:p.Trp73Leu mutation disrupting strength mutation disrupting interaction strength mutation disrupting strength certain certain sequence position certain certain certain sequence position certain W L Wed May 02 18:09:41 BST 2018 This feature has been corrected as a result of our quality control procedures. The original label was 'trp73leu' Tue Jun 30 17:53:21 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Trp73Leu' P51159-1:p.Trp73Ser mutation disrupting strength mutation disrupting interaction strength mutation disrupting strength certain certain sequence position certain certain certain sequence position certain W S Wed May 02 16:58:09 BST 2018 This feature has been corrected as a result of our quality control procedures. The original label was 'trp73ser' Tue Jun 30 18:22:31 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Trp73Ser' P51159-1:p.Trp73Gly W73G/L/S mutation disrupting strength mutation disrupting interaction strength mutation disrupting strength substitut analysis substitution analysis substitut analysis certain certain sequence position certain certain certain sequence position certain W G Wed May 02 19:22:00 BST 2018 This feature has been corrected as a result of our quality control procedures. The original label was 'trp73gly' Tue Jun 30 19:04:48 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Trp73Gly' Flag-tag Flag-tag 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 human Homo sapiens Human physical association physical association mlph-rab27a-4 1 4 unspecified role unspecified role bait bait Myc-tag Myc-tag 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 Region 1-146 Region 1-146 sufficient to bind sufficient binding region sufficient to bind certain certain sequence position certain certain certain sequence position certain human Homo sapiens Human 3 unspecified role unspecified role prey prey P51159-1:p.Thr23Asn T23N mutation disrupting strength mutation disrupting interaction strength mutation disrupting strength substitut analysis substitution analysis substitut analysis certain certain sequence position certain certain certain sequence position certain T N This feature has been corrected as a result of our quality control procedures. The original label was 'T23N'. Wed May 02 19:54:21 BST 2018 This feature has been corrected as a result of our quality control procedures. The original label was 'thr23asn' Tue Jun 30 17:46:25 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Thr23Asn' Flag-tag Flag-tag 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 human Homo sapiens Human physical association physical association