| http://purl.uniprot.org/citations/12576321 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/12576321 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/12576321 | http://www.w3.org/2000/01/rdf-schema#comment | "Hermansky-Pudlak syndrome (HPS) is a disorder of organelle biogenesis affecting 3 related organelles-melanosomes, platelet dense bodies, and lysosomes. Four genes causing HPS in humans (HPS1-HPS4) are known, and at least 15 nonallelic mutations cause HPS in the mouse. Where their functions are known, the HPS-associated proteins are involved in some aspect of intracellular vesicular trafficking, that is, protein sorting and vesicle docking and fusion. Biochemical and genetic evidence indicates that the HPS-associated genes encode components of at least 3 distinct protein complexes: the adaptor complex AP-3; the HPS1/HPS4 complex; and BLOC-1 (biogenesis of lysosome-related organelles complex-1), consisting of the proteins encoded at 2 mouse HPS loci, pallid (pa) and muted (mu), and at least 3 other unidentified proteins. Here, we report the cloning of the mouse HPS mutation cappuccino (cno). We show that the wild-type cno gene encodes a novel, ubiquitously expressed cytoplasmic protein that coassembles with pallidin and the muted protein in the BLOC-1 complex. Further, we identify a frameshift mutation in mutant cno/cno mice. The C-terminal 81 amino acids are replaced with 72 different amino acids in the mutant CNO protein, and its ability to interact in BLOC-1 is abolished. We performed mutation screening of patients with HPS and failed to identify any CNO defects. Notably, although defects in components of the HPS1/HPS4 and the AP-3 complexes are associated with HPS in humans, no defects in the known components of BLOC-1 have been identified in 142 patients with HPS screened to date, suggesting that BLOC-1 function may be critical in humans."xsd:string |
| http://purl.uniprot.org/citations/12576321 | http://purl.org/dc/terms/identifier | "doi:10.1182/blood-2003-01-0020"xsd:string |
| http://purl.uniprot.org/citations/12576321 | http://purl.org/dc/terms/identifier | "doi:10.1182/blood-2003-01-0020"xsd:string |
| http://purl.uniprot.org/citations/12576321 | http://purl.uniprot.org/core/author | "Gahl W.A."xsd:string |
| http://purl.uniprot.org/citations/12576321 | http://purl.uniprot.org/core/author | "Gahl W.A."xsd:string |
| http://purl.uniprot.org/citations/12576321 | http://purl.uniprot.org/core/author | "Moriyama K."xsd:string |
| http://purl.uniprot.org/citations/12576321 | http://purl.uniprot.org/core/author | "Moriyama K."xsd:string |
| http://purl.uniprot.org/citations/12576321 | http://purl.uniprot.org/core/author | "Bonifacino J.S."xsd:string |
| http://purl.uniprot.org/citations/12576321 | http://purl.uniprot.org/core/author | "Bonifacino J.S."xsd:string |
| http://purl.uniprot.org/citations/12576321 | http://purl.uniprot.org/core/author | "Huizing M."xsd:string |
| http://purl.uniprot.org/citations/12576321 | http://purl.uniprot.org/core/author | "Huizing M."xsd:string |
| http://purl.uniprot.org/citations/12576321 | http://purl.uniprot.org/core/author | "Ciciotte S.L."xsd:string |
| http://purl.uniprot.org/citations/12576321 | http://purl.uniprot.org/core/author | "Ciciotte S.L."xsd:string |
| http://purl.uniprot.org/citations/12576321 | http://purl.uniprot.org/core/author | "Peters L.L."xsd:string |
| http://purl.uniprot.org/citations/12576321 | http://purl.uniprot.org/core/author | "Peters L.L."xsd:string |
| http://purl.uniprot.org/citations/12576321 | http://purl.uniprot.org/core/author | "Gwynn B."xsd:string |
| http://purl.uniprot.org/citations/12576321 | http://purl.uniprot.org/core/author | "Gwynn B."xsd:string |
| http://purl.uniprot.org/citations/12576321 | http://purl.uniprot.org/core/date | "2003"xsd:gYear |
| http://purl.uniprot.org/citations/12576321 | http://purl.uniprot.org/core/date | "2003"xsd:gYear |
| http://purl.uniprot.org/citations/12576321 | http://purl.uniprot.org/core/name | "Blood"xsd:string |
| http://purl.uniprot.org/citations/12576321 | http://purl.uniprot.org/core/name | "Blood"xsd:string |
| http://purl.uniprot.org/citations/12576321 | http://purl.uniprot.org/core/pages | "4402-4407"xsd:string |
| http://purl.uniprot.org/citations/12576321 | http://purl.uniprot.org/core/pages | "4402-4407"xsd:string |