{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T06:28:51Z","timestamp":1791268131943,"version":"4.1.0"},"reference-count":24,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2004,2,18]],"date-time":"2004-02-18T00:00:00Z","timestamp":1077062400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Traffic"],"published-print":{"date-parts":[[2004,4]]},"abstract":"<jats:p><jats:bold>Hermansky\u2013Pudlak syndrome (HPS) defines a group of at least seven autosomal recessive disorders characterized by albinism and prolonged bleeding due to defects in the lysosome\u2010related organelles, melanosomes and platelet\u2010dense granules, respectively. Most <jats:italic>HPS<\/jats:italic> genes, including <jats:italic>HPS3, HPS5 and HPS6<\/jats:italic>, encode ubiquitously expressed novel proteins of unknown function. Here, we report the biochemical characterization of a stable protein complex named Biogenesis of Lysosome\u2010related Organelles Complex\u20102 (BLOC\u20102), which contains the HPS3, HPS5 and HPS6 proteins as subunits. The endogenous HPS3, HPS5 and HPS6 proteins from human HeLa cells coimmunoprecipitated with each other from crude extracts as well as from fractions resulting from size\u2010exclusion chromatography and density gradient centrifugation. The native molecular mass of BLOC\u20102 was estimated to be 340\u2003\u00b1\u200364\u2003kDa. As inferred from the biochemical properties of the HPS6 subunit, BLOC\u20102 exists in a soluble pool and associates to membranes as a peripheral membrane protein. Fibroblasts deficient in the BLOC\u20102 subunits HPS3 or HPS6 displayed normal basal secretion of the lysosomal enzyme \u03b2\u2010hexosaminidase. Our results suggest a common biological basis underlying the pathogenesis of HPS\u20103, \u20105 and \u20106 disease.<\/jats:bold><\/jats:p>","DOI":"10.1111\/j.1600-0854.2004.0171.x","type":"journal-article","created":{"date-parts":[[2004,3,18]],"date-time":"2004-03-18T12:25:25Z","timestamp":1079612725000},"page":"276-283","source":"Crossref","is-referenced-by-count":103,"title":["Characterization of BLOC\u20102, a Complex Containing the Hermansky\u2013Pudlak Syndrome Proteins HPS3, HPS5 and HPS6"],"prefix":"10.1111","volume":"5","author":[{"given":"Santiago M.","family":"Di Pietro","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juan M.","family":"Falc\u00f3n\u2010P\u00e9rez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Esteban C.","family":"Dell'Angelica","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2004,2,18]]},"reference":[{"key":"e_1_2_5_2_2","doi-asserted-by":"publisher","DOI":"10.1034\/j.1600-0854.2000.011103.x"},{"key":"e_1_2_5_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0959-437X(03)00059-5"},{"key":"e_1_2_5_4_2","doi-asserted-by":"publisher","DOI":"10.1034\/j.1600-0854.2002.030401.x"},{"key":"e_1_2_5_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/S1084952102000599"},{"key":"e_1_2_5_6_2","doi-asserted-by":"publisher","DOI":"10.1007\/s004280000241"},{"key":"e_1_2_5_7_2","doi-asserted-by":"publisher","DOI":"10.1038\/ni1000"},{"key":"e_1_2_5_8_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1224"},{"key":"e_1_2_5_9_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0378-1119(02)00422-5"},{"key":"e_1_2_5_10_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0237292100"},{"key":"e_1_2_5_11_2","doi-asserted-by":"publisher","DOI":"10.1016\/S1097-2765(00)80170-7"},{"key":"e_1_2_5_12_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1229"},{"key":"e_1_2_5_13_2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M300090200"},{"key":"e_1_2_5_14_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1532040100"},{"key":"e_1_2_5_15_2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M301294200"},{"key":"e_1_2_5_16_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1087"},{"key":"e_1_2_5_17_2","doi-asserted-by":"publisher","DOI":"10.1016\/0926-6585(66)90333-5"},{"key":"e_1_2_5_18_2","doi-asserted-by":"crossref","unstructured":"GautamR ChintalaS LiW ZhangQ TanJ NovakEK Di PietroSM Dell'AngelicaEC SwankRT.The Hermansky\u2013Pudlak syndrome 3 (cocoa) protein is a component of the biogenesis of lysosome\u2010related organelles complex\u20102 (BLOC\u20102).J Biol Chem2004: in press.","DOI":"10.1074\/jbc.M311311200"},{"key":"e_1_2_5_19_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.93.25.14349"},{"key":"e_1_2_5_20_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0749.1998.tb00713.x"},{"key":"e_1_2_5_21_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.1988.tb02376.x"},{"key":"e_1_2_5_22_2","doi-asserted-by":"publisher","DOI":"10.1086\/324168"},{"key":"e_1_2_5_23_2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M204011200"},{"key":"e_1_2_5_24_2","doi-asserted-by":"publisher","DOI":"10.1093\/emboj\/16.5.917"},{"key":"e_1_2_5_25_2","doi-asserted-by":"publisher","DOI":"10.1006\/cbir.1997.0162"}],"container-title":["Traffic"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1600-0854.2004.0171.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1600-0854.2004.0171.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,14]],"date-time":"2023-10-14T11:11:59Z","timestamp":1697281919000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1600-0854.2004.0171.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,2,18]]},"references-count":24,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2004,4]]}},"alternative-id":["10.1111\/j.1600-0854.2004.0171.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1600-0854.2004.0171.x","archive":["Portico"],"relation":{},"ISSN":["1398-9219","1600-0854"],"issn-type":[{"value":"1398-9219","type":"print"},{"value":"1600-0854","type":"electronic"}],"subject":[],"published":{"date-parts":[[2004,2,18]]}}}