| http://purl.uniprot.org/citations/10610180 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/10610180 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/10610180 | http://www.w3.org/2000/01/rdf-schema#comment | "Pallid (pa) is 1 of 13 platelet storage pool deficiency (SPD) mouse mutants. pa animals suffer from prolonged bleeding time, pigment dilution, kidney lysosomal enzyme elevation, serum alpha1-antitrypsin activity deficiency and abnormal otolith formation. As with other mouse mutants of this class, characterization of pa mice suggests a defect in organelle biosynthesis. Here we describe the physical mapping, positional cloning, and mutational and functional analysis of the gene that is defective in pa mice. It encodes a ubiquitously expressed, highly charged 172-amino-acid protein (termed pallidin) with no homology to known proteins. We detected a nonsense mutation at codon 69 of this gene in the pallid mutant. In a yeast two-hybrid screen, we discovered that pallidin interacts with syntaxin 13, a t-SNARE protein that mediates vesicle-docking and fusion. We confirmed this interaction by co-immunoprecipitation assay. Immunofluorescence studies corroborate that the cellular distribution of pallidin overlaps that of syntaxin 13. Whereas the mocha and pearl SPD mutants have defects in Ap-3, our findings suggest that pa SPD mutants are defective in a more downstream event of vesicle-trafficking: namely, vesicle-docking and fusion."xsd:string |
| http://purl.uniprot.org/citations/10610180 | http://purl.org/dc/terms/identifier | "doi:10.1038/15507"xsd:string |
| http://purl.uniprot.org/citations/10610180 | http://purl.org/dc/terms/identifier | "doi:10.1038/15507"xsd:string |
| http://purl.uniprot.org/citations/10610180 | http://purl.uniprot.org/core/author | "Huang L."xsd:string |
| http://purl.uniprot.org/citations/10610180 | http://purl.uniprot.org/core/author | "Huang L."xsd:string |
| http://purl.uniprot.org/citations/10610180 | http://purl.uniprot.org/core/author | "Gitschier J."xsd:string |
| http://purl.uniprot.org/citations/10610180 | http://purl.uniprot.org/core/author | "Gitschier J."xsd:string |
| http://purl.uniprot.org/citations/10610180 | http://purl.uniprot.org/core/author | "Kuo Y.-M."xsd:string |
| http://purl.uniprot.org/citations/10610180 | http://purl.uniprot.org/core/author | "Kuo Y.-M."xsd:string |
| http://purl.uniprot.org/citations/10610180 | http://purl.uniprot.org/core/date | "1999"xsd:gYear |
| http://purl.uniprot.org/citations/10610180 | http://purl.uniprot.org/core/date | "1999"xsd:gYear |
| http://purl.uniprot.org/citations/10610180 | http://purl.uniprot.org/core/name | "Nat. Genet."xsd:string |
| http://purl.uniprot.org/citations/10610180 | http://purl.uniprot.org/core/name | "Nat. Genet."xsd:string |
| http://purl.uniprot.org/citations/10610180 | http://purl.uniprot.org/core/pages | "329-332"xsd:string |
| http://purl.uniprot.org/citations/10610180 | http://purl.uniprot.org/core/pages | "329-332"xsd:string |
| http://purl.uniprot.org/citations/10610180 | http://purl.uniprot.org/core/title | "The pallid gene encodes a novel, syntaxin 13-interacting protein involved in platelet storage pool deficiency."xsd:string |
| http://purl.uniprot.org/citations/10610180 | http://purl.uniprot.org/core/title | "The pallid gene encodes a novel, syntaxin 13-interacting protein involved in platelet storage pool deficiency."xsd:string |
| http://purl.uniprot.org/citations/10610180 | http://purl.uniprot.org/core/volume | "23"xsd:string |
| http://purl.uniprot.org/citations/10610180 | http://purl.uniprot.org/core/volume | "23"xsd:string |
| http://purl.uniprot.org/citations/10610180 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/10610180 |
| http://purl.uniprot.org/citations/10610180 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/10610180 |
| http://purl.uniprot.org/citations/10610180 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/10610180 |
| http://purl.uniprot.org/citations/10610180 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/10610180 |