| http://purl.uniprot.org/citations/15461667 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/15461667 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/15461667 | http://www.w3.org/2000/01/rdf-schema#comment | "Mutations in the triple PDZ domain-containing protein harmonin have been identified as the cause of Usher deafness syndrome type 1C. Independently, we identified harmonin in a screen for genes expressed in pancreatic beta cells. Using a yeast two-hybrid assay, we show that the first PDZ domain of harmonin interacts with a novel protein, designated harp for harmonin-interacting, ankyrin repeat-containing protein. This interaction was confirmed in an over-expression system and in mammalian cells, and shown to be mediated by the three C-terminal amino acids of harp. Harp is expressed in many of the same epithelia as harmonin and co-localization of native harp and harmonin was demonstrated by confocal microscopy in pancreatic duct epithelium and in a pancreatic beta-cell line. Harp, predicted molecular mass 48 kDa, has a domain structure which includes three ankyrin repeats and a sterile alpha motif. Human harp maps to chromosome 16, and its mouse homologue to chromosome 7. Sequences with similarity to harp include the sans gene, mutations of which are responsible for deafness in the Jackson shaker 2 (js) mutant mouse and in human Usher syndrome type 1G. The functional domain structures of harp and harmonin, their interaction under native conditions and their co-localization suggest they constitute a scaffolding complex to facilitate signal transduction in epithelia."xsd:string |
| http://purl.uniprot.org/citations/15461667 | http://purl.org/dc/terms/identifier | "doi:10.1111/j.1365-2443.2004.00776.x"xsd:string |
| http://purl.uniprot.org/citations/15461667 | http://purl.org/dc/terms/identifier | "doi:10.1111/j.1365-2443.2004.00776.x"xsd:string |
| http://purl.uniprot.org/citations/15461667 | http://purl.uniprot.org/core/author | "Niwa H."xsd:string |
| http://purl.uniprot.org/citations/15461667 | http://purl.uniprot.org/core/author | "Niwa H."xsd:string |
| http://purl.uniprot.org/citations/15461667 | http://purl.uniprot.org/core/author | "Brodnicki T."xsd:string |
| http://purl.uniprot.org/citations/15461667 | http://purl.uniprot.org/core/author | "Brodnicki T."xsd:string |
| http://purl.uniprot.org/citations/15461667 | http://purl.uniprot.org/core/author | "Gonez L.J."xsd:string |
| http://purl.uniprot.org/citations/15461667 | http://purl.uniprot.org/core/author | "Gonez L.J."xsd:string |
| http://purl.uniprot.org/citations/15461667 | http://purl.uniprot.org/core/author | "Harrison L.C."xsd:string |
| http://purl.uniprot.org/citations/15461667 | http://purl.uniprot.org/core/author | "Harrison L.C."xsd:string |
| http://purl.uniprot.org/citations/15461667 | http://purl.uniprot.org/core/author | "Johnston A.M."xsd:string |
| http://purl.uniprot.org/citations/15461667 | http://purl.uniprot.org/core/author | "Johnston A.M."xsd:string |
| http://purl.uniprot.org/citations/15461667 | http://purl.uniprot.org/core/author | "Naselli G."xsd:string |
| http://purl.uniprot.org/citations/15461667 | http://purl.uniprot.org/core/author | "Naselli G."xsd:string |
| http://purl.uniprot.org/citations/15461667 | http://purl.uniprot.org/core/date | "2004"xsd:gYear |
| http://purl.uniprot.org/citations/15461667 | http://purl.uniprot.org/core/date | "2004"xsd:gYear |
| http://purl.uniprot.org/citations/15461667 | http://purl.uniprot.org/core/name | "Genes Cells"xsd:string |
| http://purl.uniprot.org/citations/15461667 | http://purl.uniprot.org/core/name | "Genes Cells"xsd:string |
| http://purl.uniprot.org/citations/15461667 | http://purl.uniprot.org/core/pages | "967-982"xsd:string |
| http://purl.uniprot.org/citations/15461667 | http://purl.uniprot.org/core/pages | "967-982"xsd:string |
| http://purl.uniprot.org/citations/15461667 | http://purl.uniprot.org/core/title | "Harp (harmonin-interacting, ankyrin repeat-containing protein), a novel protein that interacts with harmonin in epithelial tissues."xsd:string |
| http://purl.uniprot.org/citations/15461667 | http://purl.uniprot.org/core/title | "Harp (harmonin-interacting, ankyrin repeat-containing protein), a novel protein that interacts with harmonin in epithelial tissues."xsd:string |