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/ Assembly of the biogenesis of lysosome-related organelles complex-3 (BLOC-3) and its interaction with Rab9. Assembly of the biogenesis of lysosome-related organelles complex-3 (BLOC-3) and its interaction with Rab9. The Journal of biological chemistry 2010 imex curation Kloer DP., Rojas R., Ivan V., Moriyama K., van Vlijmen T., Murthy N., Ghirlando R., van der Sluijs P., Hurley JH., Bonifacino JS. Rare diseases - Interactions investigated in the context of Rare genetic disease hurley@helix.hih.gov,juan@helix.nih.gov 04-05-20: Contacted by IntAct-Help. Only protein-protein interactions imex curation in vitro In vitro molecular sieving molecular sieving Gel Filtration Size Exclusion Chromatography Size Exclusion Chromatography Gel Filtration Sizing column weight by comassie molecular weight estimation by coomasie staining weight by comassie Kloer DP., Rojas R., Ivan V., Moriyama K., van Vlijmen T., Murthy N., Ghirlando R., van der Sluijs P., Hurley JH., Bonifacino JS. Rare diseases - Interactions investigated in the context of Rare genetic disease hurley@helix.hih.gov,juan@helix.nih.gov Accepted 2019-DEC-05 AT 16:11 GMT AT 16:11 GMT by MGT The Journal of biological chemistry 2010 Only protein-protein interactions imex curation imex curation Assembly of the biogenesis of lysosome-related organelles complex-3 (BLOC-3) and its interaction with Rab9. Assembly of the biogenesis of lysosome-related organelles complex-3 (BLOC-3) and its interaction with Rab9. The Journal of biological chemistry 2010 imex curation Kloer DP., Rojas R., Ivan V., Moriyama K., van Vlijmen T., Murthy N., Ghirlando R., van der Sluijs P., Hurley JH., Bonifacino JS. Rare diseases - Interactions investigated in the context of Rare genetic disease hurley@helix.hih.gov,juan@helix.nih.gov 04-05-20: Contacted by IntAct-Help. Only protein-protein interactions imex curation in vitro In vitro solution sedimentati cosedimentation in solution solution sedimentati predetermined predetermined participant predetermined Kloer DP., Rojas R., Ivan V., Moriyama K., van Vlijmen T., Murthy N., Ghirlando R., van der Sluijs P., Hurley JH., Bonifacino JS. Rare diseases - Interactions investigated in the context of Rare genetic disease hurley@helix.hih.gov,juan@helix.nih.gov Accepted 2019-DEC-05 AT 16:11 GMT AT 16:11 GMT by MGT The Journal of biological chemistry 2010 Only protein-protein interactions imex curation imex curation Assembly of the biogenesis of lysosome-related organelles complex-3 (BLOC-3) and its interaction with Rab9. Assembly of the biogenesis of lysosome-related organelles complex-3 (BLOC-3) and its interaction with Rab9. The Journal of biological chemistry 2010 imex curation Kloer DP., Rojas R., Ivan V., Moriyama K., van Vlijmen T., Murthy N., Ghirlando R., van der Sluijs P., Hurley JH., Bonifacino JS. Rare diseases - Interactions investigated in the context of Rare genetic disease hurley@helix.hih.gov,juan@helix.nih.gov 04-05-20: Contacted by IntAct-Help. Only protein-protein interactions imex curation 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 Kloer DP., Rojas R., Ivan V., Moriyama K., van Vlijmen T., Murthy N., Ghirlando R., van der Sluijs P., Hurley JH., Bonifacino JS. Rare diseases - Interactions investigated in the context of Rare genetic disease hurley@helix.hih.gov,juan@helix.nih.gov Accepted 2019-DEC-05 AT 16:11 GMT AT 16:11 GMT by MGT The Journal of biological chemistry 2010 Only protein-protein interactions imex curation imex curation Assembly of the biogenesis of lysosome-related organelles complex-3 (BLOC-3) and its interaction with Rab9. Assembly of the biogenesis of lysosome-related organelles complex-3 (BLOC-3) and its interaction with Rab9. The Journal of biological chemistry 2010 imex curation Kloer DP., Rojas R., Ivan V., Moriyama K., van Vlijmen T., Murthy N., Ghirlando R., van der Sluijs P., Hurley JH., Bonifacino JS. Rare diseases - Interactions investigated in the context of Rare genetic disease hurley@helix.hih.gov,juan@helix.nih.gov 04-05-20: Contacted by IntAct-Help. Only protein-protein interactions imex curation in vitro In vitro pull down pull down anti tag western anti tag western blot anti tag western Kloer DP., Rojas R., Ivan V., Moriyama K., van Vlijmen T., Murthy N., Ghirlando R., van der Sluijs P., Hurley JH., Bonifacino JS. Rare diseases - Interactions investigated in the context of Rare genetic disease hurley@helix.hih.gov,juan@helix.nih.gov Accepted 2019-DEC-05 AT 16:11 GMT AT 16:11 GMT by MGT The Journal of biological chemistry 2010 Only protein-protein interactions imex curation imex curation Mock publication and experiment for abstract interactions that are not interaction evidences. Mock publication and experiment for abstract interactions that are not interaction evidences. unspecified method Assembly of the biogenesis of lysosome-related organelles complex-3 (BLOC-3) and its interaction with Rab9. Assembly of the biogenesis of lysosome-related organelles complex-3 (BLOC-3) and its interaction with Rab9. The Journal of biological chemistry 2010 imex curation Kloer DP., Rojas R., Ivan V., Moriyama K., van Vlijmen T., Murthy N., Ghirlando R., van der Sluijs P., Hurley JH., Bonifacino JS. Rare diseases - Interactions investigated in the context of Rare genetic disease hurley@helix.hih.gov,juan@helix.nih.gov 04-05-20: Contacted by IntAct-Help. Only protein-protein interactions imex curation in vitro In vitro pull down pull down weight by comassie molecular weight estimation by coomasie staining weight by comassie Kloer DP., Rojas R., Ivan V., Moriyama K., van Vlijmen T., Murthy N., Ghirlando R., van der Sluijs P., Hurley JH., Bonifacino JS. Rare diseases - Interactions investigated in the context of Rare genetic disease hurley@helix.hih.gov,juan@helix.nih.gov Accepted 2019-DEC-05 AT 16:11 GMT AT 16:11 GMT by MGT The Journal of biological chemistry 2010 Only protein-protein interactions imex curation imex curation Assembly of the biogenesis of lysosome-related organelles complex-3 (BLOC-3) and its interaction with Rab9. Assembly of the biogenesis of lysosome-related organelles complex-3 (BLOC-3) and its interaction with Rab9. The Journal of biological chemistry 2010 imex curation Kloer DP., Rojas R., Ivan V., Moriyama K., van Vlijmen T., Murthy N., Ghirlando R., van der Sluijs P., Hurley JH., Bonifacino JS. Rare diseases - Interactions investigated in the context of Rare genetic disease hurley@helix.hih.gov,juan@helix.nih.gov 04-05-20: Contacted by IntAct-Help. Only protein-protein interactions imex curation in vitro In vitro pull down pull down western blot western blot Immuno blot Immuno blot Kloer DP., Rojas R., Ivan V., Moriyama K., van Vlijmen T., Murthy N., Ghirlando R., van der Sluijs P., Hurley JH., Bonifacino JS. Rare diseases - Interactions investigated in the context of Rare genetic disease hurley@helix.hih.gov,juan@helix.nih.gov Accepted 2019-DEC-05 AT 16:11 GMT AT 16:11 GMT by MGT The Journal of biological chemistry 2010 Only protein-protein interactions imex curation imex curation hps4_human Hermansky-Pudlak syndrome 4 protein Light-ear protein homolog HPS4 KIAA1667 protein protein human Homo sapiens Human MATSTSTEAKSASWWNYFFLYDGSKVKEEGDPTRAGICYFYPSQTLLDQQELLCGQIAGVVRCVSDISDSPPTLVRLRKLKFAIKVDGDYLWVLGCAVELPDVSCKRFLDQLVGFFNFYNGPVSLAYENCSQEELSTEWDTFIEQILKNTSDLHKIFNSLWNLDQTKVEPLLLLKAARILQTCQRSPHILAGCILYKGLIVSTQLPPSLTAKVLLHRTAPQEQRLPTGEDAPQEHGAALPPNVQIIPVFVTKEEAISLHEFPVEQMTRSLASPAGLQDGSAQHHPKGGSTSALKENATGHVESMAWTTPDPTSPDEACPDGRKENGCLSGHDLESIRPAGLHNSARGEVLGLSSSLGKELVFLQEELDLSEIHIPEAQEVEMASGHFAFLHVPVPDGRAPYCKASLSASSSLEPTPPEDTAISSLRPPSAPEMLTQHGAQEQLEDHPGHSSQAPIPRADPLPRRTRRPLLLPRLDPGQRGNKLPTGEQGLDEDVDGVCESHAAPGLECSSGSANCQGAGPSADGISSRLTPAESCMGLVRMNLYTHCVKGLVLSLLAEEPLLGDSAAIEEVYHSSLASLNGLEVHLKETLPRDEAASTSSTYNFTHYDRIQSLLMANLPQVATPQDRRFLQAVSLMHSEFAQLPALYEMTVRNASTAVYACCNPIQETYFQQLAPAARSSGFPNPQDGAFSLSGKAKQKLLKHGVNLL E47BCF49FC78830A guanosine 5'-[beta,gamma-imido]triphosphate guanosine 5'-[beta,gamma-imido]triphosphate 5'-Guanylic acid, monoanhydride with imidodiphosphoric acid 5'-guanylylimidodiphosphate GMP-PNP GMP-Pnp Gpp(NH)-p Gpp(NH)p Guanylyl imidodiphosphate 5'-O-(hydroxy{[hydroxy(phosphonoamino)phosphoryl]oxy}phosphoryl)guanosine small molecule small molecule chemical synthesis Chemical synthesis (Chemical synthesis) hps4_mouse Hermansky-Pudlak syndrome 4 protein homolog Light-ear protein Hps4 Le protein protein mouse Mus musculus Mouse MATTTPPETKSAAWWNYFFLYDGSKVKGEGDPTRAGICYFYPPQTLLDQQELLCGQLAGVVRCLWDLSGTPPMLIRMRNLKFAIRADGDYLWALGCGVEISDASCRQFLDQLIGFFHFYMGPVSLAYKSHPQEELSLQWDTSITQVLRSTSESHRIFNALWNLDRTKVEPLLLLKAALILQTCQRSPHVLAGCILYKGLIVNSQLLPSLTAKVLLHQTVPADQRLPGAGAAPQETGAALPPDVQITSVFLSEEEVASLHEFPVEHETRLQGSSVQYPPWDQSSPTQAEDAWASAAIPEPTPHDGACPSGSGADERLPRLEQECAGPTGLCTTACGQGSGLSSRLQKELCLSREELDSSEMHVSEAQEAFPPLPALGDLETLHSSHSAPTLPEDTAICSCLHPCPLERLPESGRLGQLADLPLTNGQTQVPGTDPLPSSMPVALPPQHPVGVEPSVEPYGNGAQESHSALPRSSRSPDSPGPSPSADRTGFKPSPSGRHAGLVPMNLYTHSVNGLVLSLLAEETLLSDTAAIEEVYHSSLASLNGLEVHLKETLPRDEASLTSSTYNFLHYDRIQSVLSANLPLVTAPQDRRFLQAVNLMHSDFALLPMLYEMTIRNASTAVYACSSPAQETYFQQLAPTARSSGFPNPQDCAFSLAGKAKQKLLKHGVNLL 3167737195F7F3BD gtp guanosine triphosphate - GTP 5'-GTP GTP Guanosine 5'-triphosphate guanosine 5'-triphosphoric acid guanosine triphosphate GUANOSINE-5'-TRIPHOSPHATE H4gtp guanosine 5'-(tetrahydrogen triphosphate) small molecule small molecule chemical synthesis Chemical synthesis (Chemical synthesis) InChI=1/C10H16N5O14P3/c11-10-13-7-4(8(18)14-10)12-2-15(7)9-6(17)5(16)3(27-9)1-26-31(22,23)29-32(24,25)28-30(19,20)21/h2-3,5-6,9,16-17H,1H2,(H,22,23)(H,24,25)(H2,19,20,21)(H3,11,13,14,18)/t3-,5-,6-,9-/m1/s1/f/h14,19-20,22,24H,11H2 InChI=1/C10H16N5O14P3/c11-10-13-7-4(8(18)14-10)12-2-15(7)9-6(17)5(16)3(27-9)1-26-31(22,23)29-32(24,25)28-30(19,20)21/h2-3,5-6,9,16-17H,1H2,(H,22,23)(H,24,25)(H2,19,20,21)(H3,11,13,14,18)/t3-,5-,6-,9-/m1/s1/f/h14,19-20,22,24H,11H2 guanosine 5'-[gamma-thio]triphosphate GTP-gamma-S small molecule small molecule chemical synthesis Chemical synthesis (Chemical synthesis) hps1_human Hermansky-Pudlak syndrome 1 protein HPS1 HPS protein protein human Homo sapiens Human MKCVLVATEGAEVLFYWTDQEFEESLRLKFGQSENEEEELPALEDQLSTLLAPVIISSMTMLEKLSDTYTCFSTENGNFLYVLHLFGECLFIAINGDHTESEGDLRRKLYVLKYLFEVHFGLVTVDGHLIRKELRPPDLAQRVQLWEHFQSLLWTYSRLREQEQCFAVEALERLIHPQLCELCIEALERHVIQAVNTSPERGGEEALHAFLLVHSKLLAFYSSHSASSLRPADLLALILLVQDLYPSESTAEDDIQPSPRRARSSQNIPVQQAWSPHSTGPTGGSSAETETDSFSLPEEYFTPAPSPGDQSSGSTIWLEGGTPPMDALQIAEDTLQTLVPHCPVPSGPRRIFLDANVKESYCPLVPHTMYCLPLWQGINLVLLTRSPSAPLALVLSQLMDGFSMLEKKLKEGPEPGASLRSQPLVGDLRQRMDKFVKNRGAQEIQSTWLEFKAKAFSKSEPGSSWELLQACGKLKRQLCAIYRLNFLTTAPSRGGPHLPQHLQDQVQRLMREKLTDWKDFLLVKSRRNITMVSYLEDFPGLVHFIYVDRTTGQMVAPSLNCSQKTSSELGKGPLAAFVKTKVWSLIQLARRYLQKGYTTLLFQEGDFYCSYFLWFENDMGYKLQMIEVPVLSDDSVPIGMLGGDYYRKLLRYYSKNRPTEAVRCYELLALHLSVIPTDLLVQQAGQLARRLWEASRIPLL 0885D3E2D64B3248 rab9b_human Ras-related protein Rab-9B RAB9B RAB9L Rab-9-like protein protein protein human Homo sapiens Human MSGKSLLLKVILLGDGGVGKSSLMNRYVTNKFDSQAFHTIGVEFLNRDLEVDGRFVTLQIWDTAGQERFKSLRTPFYRGADCCLLTFSVDDRQSFENLGNWQKEFIYYADVKDPEHFPFVVLGNKVDKEDRQVTTEEAQTWCMENGDYPYLETSAKDDTNVTVAFEEAVRQVLAVEEQLEHCMLGHTIDLNSGSKAGSSCC B35EDA8E8358C49C rab9a_human Ras-related protein Rab-9A RAB9A RAB9 protein protein human Homo sapiens Human MAGKSSLFKVILLGDGGVGKSSLMNRYVTNKFDTQLFHTIGVEFLNKDLEVDGHFVTMQIWDTAGQERFRSLRTPFYRGSDCCLLTFSVDDSQSFQNLSNWKKEFIYYADVKEPESFPFVILGNKIDISERQVSTEEAQAWCRDNGDYPYFETSAKDATNVAAAFEEAVRRVLATEDRSDHLIQTDTVNLHRKPKPSSSCC DIP protein P51151 original sequence version: 89 DIP protein P51151 original sequence version: 165 65B502C21E97DB72 hps1-hps4-1 1 8 unspecified role unspecified role neutral component neutral component purified purified region sufficient to bind sufficient binding region sufficient to bind certain certain sequence position certain certain certain sequence position certain certain certain sequence position certain certain certain sequence position certain spofr-sf_9 Spodoptera frugiperda insect cells Fall armyworm sf_9 insect cells Derived from pupal ovarian tissue of the fall armyworm Cloned from the parent cell line, IPLB-SF-21-AE (SF-21) derived from immature ovaries of fall armyworm Spodoptera frugiperda pupae cells are susceptible to Baculovirus infection 13 unspecified role unspecified role neutral component neutral component purified purified region sufficient to bind sufficient binding region sufficient to bind certain certain sequence position certain certain certain sequence position certain spofr-sf_9 Spodoptera frugiperda insect cells Fall armyworm sf_9 insect cells Derived from pupal ovarian tissue of the fall armyworm Cloned from the parent cell line, IPLB-SF-21-AE (SF-21) derived from immature ovaries of fall armyworm Spodoptera frugiperda pupae cells are susceptible to Baculovirus infection 18 20 direct interaction direct interaction Fig. 1A-B, Fig. 2B-E, Fig. 3A-B SDS-PAGE and Coomassie Blue staining of the peak fractions revealed the presence of both HPS1 and HPS4 in roughly equimolar quantities (Fig. 1B). Given the predicted molecular masses of 79 and 77 kDa for the HPS1 and HPS4 polypeptides, respectively, the apparent molecular mass of 440 kDa suggests either a multimeric assembly or an elongated 1:1 complex hps1-hps4-2 2 8 unspecified role unspecified role neutral component neutral component purified purified spofr-sf_9 Spodoptera frugiperda insect cells Fall armyworm sf_9 insect cells Derived from pupal ovarian tissue of the fall armyworm Cloned from the parent cell line, IPLB-SF-21-AE (SF-21) derived from immature ovaries of fall armyworm Spodoptera frugiperda pupae cells are susceptible to Baculovirus infection 13 unspecified role unspecified role neutral component neutral component purified purified spofr-sf_9 Spodoptera frugiperda insect cells Fall armyworm sf_9 insect cells Derived from pupal ovarian tissue of the fall armyworm Cloned from the parent cell line, IPLB-SF-21-AE (SF-21) derived from immature ovaries of fall armyworm Spodoptera frugiperda pupae cells are susceptible to Baculovirus infection direct interaction direct interaction Fig. 1C hps4-rab9a-1 3 15 unspecified role unspecified role bait bait over-expressed over expressed level over-expressed P51151:p.Gln66Leu 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 Q L Tue Jun 30 16:38:37 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Gln66Leu' P51151:p.[Trp61Ala;Gln66Leu] mutation disrupting strength mutation disrupting interaction strength mutation disrupting strength certain certain sequence position certain certain certain sequence position certain Q L certain certain sequence position certain certain certain sequence position certain W A Mon Dec 16 11:42:36 GMT 2019 This feature has been corrected as a result of our quality control procedures. The original label was 'p.[Gln66Leu;Trp61Ala]' Tue Jun 30 16:10:57 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.[Trp61Ala;Gln66Leu]' P51151:p.[Gln66Leu;Phe76Ala] 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 Q L certain certain sequence position certain certain certain sequence position certain F A Tue Jun 30 19:54:24 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.[Gln66Leu;Phe76Ala]' P51151:p.[Val42Ala;Gln66Leu] 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 Q L certain certain sequence position certain certain certain sequence position certain V A Mon Dec 16 10:41:30 GMT 2019 This feature has been corrected as a result of our quality control procedures. The original label was 'p.[Gln66Leu;Val42Ala]' Tue Jun 30 17:34:00 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.[Val42Ala;Gln66Leu]' P51151:p.[Gln66Leu;Leu72Ala] 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 Q L certain certain sequence position certain certain certain sequence position certain L A Tue Jun 30 16:23:54 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.[Gln66Leu;Leu72Ala]' P51151:p.[Thr34Ala;Gln66Leu] 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 Q L certain certain sequence position certain certain certain sequence position certain T A Mon Dec 16 10:54:09 GMT 2019 This feature has been corrected as a result of our quality control procedures. The original label was 'p.[Gln66Leu;Thr34Ala]' Tue Jun 30 17:48:11 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.[Thr34Ala;Gln66Leu]' P51151:p.[Gln35Ala;Gln66Leu] 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 Q L certain certain sequence position certain certain certain sequence position certain Q A Mon Dec 16 11:26:03 GMT 2019 This feature has been corrected as a result of our quality control procedures. The original label was 'p.[Gln66Leu;Gln35Ala]' Tue Jun 30 19:50:39 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.[Gln35Ala;Gln66Leu]' P51151:p.[His38Ala;Gln66Leu] 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 Q L certain certain sequence position certain certain certain sequence position certain H A Mon Dec 16 11:48:31 GMT 2019 This feature has been corrected as a result of our quality control procedures. The original label was 'p.[Gln66Leu;His38Ala]' Tue Jun 30 18:48:15 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.[His38Ala;Gln66Leu]' p.[Gln66Leu;Val111_Pro114del] 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 Q L certain certain sequence position certain certain certain sequence position certain VKEP . P51151:p.[Phe44Ala;Gln66Leu] mutation disrupting strength mutation disrupting interaction strength mutation disrupting strength certain certain sequence position certain certain certain sequence position certain Q L certain certain sequence position certain certain certain sequence position certain F A Mon Dec 16 11:57:52 GMT 2019 This feature has been corrected as a result of our quality control procedures. The original label was 'p.[Gln66Leu;Phe44Ala]' Tue Jun 30 18:09:33 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.[Phe44Ala;Gln66Leu]' P51151:p.[Ile40Ala;Gln66Leu] mutation disrupting strength mutation disrupting interaction strength mutation disrupting strength certain certain sequence position certain certain certain sequence position certain Q L certain certain sequence position certain certain certain sequence position certain I A Mon Dec 16 11:34:35 GMT 2019 This feature has been corrected as a result of our quality control procedures. The original label was 'p.[Gln66Leu;Ile40Ala]' Tue Jun 30 17:05:44 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.[Ile40Ala;Gln66Leu]' 8 unspecified role unspecified role prey prey over-expressed over expressed level over-expressed physical association physical association Fig. 4A-B, Fig. 7B rab9a-hps4-1 3 14 unspecified role unspecified role bait bait over-expressed over expressed level over-expressed Q9NP90:p.Gln66Leu mutation mutation certain certain sequence position certain certain certain sequence position certain Q L Tue Jun 30 18:41:58 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Gln66Leu' 8 unspecified role unspecified role prey prey over-expressed over expressed level over-expressed physical association physical association Fig. 4B rab9a-bloc3-1 6 11 cofactor cofactor coenzyme neutral component neutral component purified purified RAB9A binding region binding region binding-associated region binding region undetermined undetermined sequence position undetermined undetermined undetermined sequence position undetermined chemical synthesis Chemical synthesis (Chemical synthesis) 15 unspecified role unspecified role bait bait purified purified P51151:p.Gln66Leu mutation mutation certain certain sequence position certain certain certain sequence position certain Q L Tue Jun 30 18:27:43 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Gln66Leu' GTP binding region binding region binding-associated region binding region undetermined undetermined sequence position undetermined undetermined undetermined sequence position undetermined n-terminus gst tag glutathione s tranferase tag glutathione S-tranferase tag glutathione S-tranferase tag gst tag n-term range n-terminal range n-term range n-term range n-terminal range n-term range ecoli Escherichia coli (strain K12) 50 unspecified role unspecified role prey prey purified purified region sufficient to bind sufficient binding region sufficient to bind certain certain sequence position certain certain certain sequence position certain 52 certain certain sequence position certain certain certain sequence position certain 52 ecoli Escherichia coli (strain K12) 47 44 direct interaction direct interaction Fig. 5 rab9a-hps1-hps4-1 4 11 cofactor cofactor coenzyme unspecified role unspecified role binding_region sufficient to bind sufficient binding region sufficient to bind undetermined undetermined sequence position undetermined undetermined undetermined sequence position undetermined chemical synthesis Chemical synthesis (Chemical synthesis) 13 unspecified role unspecified role prey prey over-expressed over expressed level over-expressed cell lysate cell lysate n-terminus ha tag ha tag YPYDVPDYA epitope tag YPYDVPDYA epitope tag n-term range n-terminal range n-term range n-term range n-terminal range n-term range chlae-cos_7 Cercopithecus aethiops simian cells transformed with SV40 Grivet cos_7 cercopithecus aethiops, by transformation with SV40 15 unspecified role unspecified role bait bait purified purified binding_region sufficient to bind sufficient binding region sufficient to bind undetermined undetermined sequence position undetermined undetermined undetermined sequence position undetermined n-terminus gst tag glutathione s tranferase tag glutathione S-tranferase tag glutathione S-tranferase tag gst tag n-term range n-terminal range n-term range n-term range n-terminal range n-term range ecoli Escherichia coli (strain K12) 8 unspecified role unspecified role prey prey over-expressed over expressed level over-expressed cell lysate cell lysate n-terminus myc tag myc tag EUKLISEED epitope tag EUKLISEED epitope tag n-term range n-terminal range n-term range n-term range n-terminal range n-term range chlae-cos_7 Cercopithecus aethiops simian cells transformed with SV40 Grivet cos_7 cercopithecus aethiops, by transformation with SV40 59 55 association association Fig. 4D hps1-hps4-3 1 8 unspecified role unspecified role neutral component neutral component purified purified region sufficient to bind sufficient binding region sufficient to bind certain certain sequence position certain certain certain sequence position certain spofr-sf_9 Spodoptera frugiperda insect cells Fall armyworm sf_9 insect cells Derived from pupal ovarian tissue of the fall armyworm Cloned from the parent cell line, IPLB-SF-21-AE (SF-21) derived from immature ovaries of fall armyworm Spodoptera frugiperda pupae cells are susceptible to Baculovirus infection 8 unspecified role unspecified role neutral component neutral component purified purified region sufficient to bind sufficient binding region sufficient to bind certain certain sequence position certain certain certain sequence position certain spofr-sf_9 Spodoptera frugiperda insect cells Fall armyworm sf_9 insect cells Derived from pupal ovarian tissue of the fall armyworm Cloned from the parent cell line, IPLB-SF-21-AE (SF-21) derived from immature ovaries of fall armyworm Spodoptera frugiperda pupae cells are susceptible to Baculovirus infection direct interaction direct interaction Fig. 3E rab9a-bloc3_human-1 6 12 cofactor cofactor coenzyme neutral component neutral component purified purified RAB9A binding region binding region binding-associated region binding region undetermined undetermined sequence position undetermined undetermined undetermined sequence position undetermined chemical synthesis Chemical synthesis (Chemical synthesis) 15 unspecified role unspecified role bait bait purified purified guanosine 5'-[gamma-thio]triphosphate binding region binding region binding-associated region binding region undetermined undetermined sequence position undetermined undetermined undetermined sequence position undetermined n-terminus gst tag glutathione s tranferase tag glutathione S-tranferase tag glutathione S-tranferase tag gst tag n-term range n-terminal range n-term range n-term range n-terminal range n-term range ecoli Escherichia coli (strain K12) 50 unspecified role unspecified role prey prey purified purified ecoli Escherichia coli (strain K12) 72 70 direct interaction direct interaction Fig. 6A rab9a-bloc3_human-2 6 9 cofactor cofactor coenzyme neutral component neutral component purified purified RAB9A binding region binding region binding-associated region binding region undetermined undetermined sequence position undetermined undetermined undetermined sequence position undetermined chemical synthesis Chemical synthesis (Chemical synthesis) 15 unspecified role unspecified role bait bait purified purified guanosine 5'-[beta,gamma-imido]triphosphate binding region binding region binding-associated region binding region undetermined undetermined sequence position undetermined undetermined undetermined sequence position undetermined n-terminus gst tag glutathione s tranferase tag glutathione S-tranferase tag glutathione S-tranferase tag gst tag n-term range n-terminal range n-term range n-term range n-terminal range n-term range ecoli Escherichia coli (strain K12) 50 unspecified role unspecified role prey prey purified purified ecoli Escherichia coli (strain K12) 79 77 direct interaction direct interaction Fig. 4C rab9a-hps1-1 7 15 unspecified role unspecified role bait bait purified purified binding_region binding region binding-associated region binding region undetermined undetermined sequence position undetermined undetermined undetermined sequence position undetermined n-terminus gst tag glutathione s tranferase tag glutathione S-tranferase tag glutathione S-tranferase tag gst tag n-term range n-terminal range n-term range n-term range n-terminal range n-term range ecoli Escherichia coli (strain K12) 10 unspecified role unspecified role prey prey physiological level physiological level endogenous level endogenous endogenous endogenous level mouse-spleen Mus musculus spleen spleen spleen 11 cofactor cofactor coenzyme unspecified role unspecified role binding_region sufficient to bind sufficient binding region sufficient to bind undetermined undetermined sequence position undetermined undetermined undetermined sequence position undetermined chemical synthesis Chemical synthesis (Chemical synthesis) 84 88 physical association physical association Fig. 6B bloc3_human BLOC-3 complex HPS1:HPS4 Biogenesis of Lysosome-related Organelles Complex-3 13 unspecified role unspecified role HPS4 binding region binding region binding-associated region binding region certain certain sequence position certain certain certain sequence position certain p.Leu699Pro mutation mutation certain certain sequence position certain certain certain sequence position certain L P 8 unspecified role unspecified role HPS1 binding region binding region binding-associated region binding region certain certain sequence position certain certain certain sequence position certain certain certain sequence position certain certain certain sequence position certain 90 92 physical association physical association human Homo sapiens Human stable complex stable complex physical interaction evidence used in manual assertion physical interaction evidence used in manual assertion IPI inferred from physical interaction A guanine exchange factor (GEF) complex required for the biogenesis of specialized organelles of the endosomal-lysosomal system, such as melanosomes and platelet dense granules. Acts as GEF for RAB32 (Q13637) and RAB38 (P57729), promoting the exchange of GDP to GTP, converting them into an active GTP-bound form and inducing their recruitment to membrane. Once active, both interact with the AP-1 (CPX-5047, CPX-5048 and CPX-5049), the AP-3 (CPX-5051 and CPX-5052) and the BLOC-2 (CPX-5044) adapter complexes, to regulate cargo delivery to nascent melanosomes and platelet dense granules. Mutations in HPS1 are the most frequent cause of Hermansky-Pudlak syndrome. HPS1 and HPS4 interact directly to form a 1:1 heterodimer with an asymmetric shape. MW: 140- 175 kDa The Leu668Pro HPS1 mutant appears to be functionally incapable of assembling with HPS4 in the BLOC-3 protein complex. Hermansky-Pudlak syndrome [Orphanet:79430]: Hermansky-Pudlak syndrome (HSP) is a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, neutropenia, pulmonary fibrosis, or granulomatous colitis. HPS comprises eight known disorders (HPS-1 to HPS-8), the majority of which present with the same clinical phenotype to varying degrees of severity. Heterodimer Accepted 2019-DEC-13 by NTORO