| http://purl.uniprot.org/citations/10767557 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/10767557 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/10767557 | http://www.w3.org/2000/01/rdf-schema#comment | "The UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase (ppGaNTase) family of enzymes initiates mucin-like O-glycosylation of specific proteins. Using exon-prediction analysis on genomic sequence from human chromosome 12p13.3, we identified novel exons that shared significant homology with the ppGaNTases. cDNA library screening and RT-PCR produced the complete coding sequence of a novel human ppGaNTase family member, designated GalNAc-T8. The open reading frame (ORF) of GalNAc-T8 codes for a 637 amino acid, type-II membrane protein that is 45-60% identical to the other mammalian ppGaNTases. GalNAc-T8 shares high homology within the functional regions of the known ppGaNTases; however, the enzyme possesses a novel residue substitution within a characteristic motif of the catalytic domain. Northern analysis of multiple human tissue mRNAs demonstrated that the 5.0 and 2.1kb GalNAc-T8 transcripts are widely expressed. The metabolic disorder autosomal dominant hypophosphatemic rickets (ADHR) was previously mapped to the region of chromosome 12p13.3 in which GalNAc-T8 resides. Using a positional-candidate strategy for identifying the ADHR gene, GalNAc-T8 was subjected to mutational analysis in DNA from ADHR individuals. We detected multiple polymorphisms in the human GalNAc-T8 ORF, but did not find ADHR mutations. In summary, these studies identified the human GalNAc-T8 gene, as well as multiple genomic polymorphisms that will be useful for further understanding the structure-function relations of the ppGaNTases."xsd:string |
| http://purl.uniprot.org/citations/10767557 | http://purl.org/dc/terms/identifier | "doi:10.1016/s0378-1119(00)00050-0"xsd:string |
| http://purl.uniprot.org/citations/10767557 | http://purl.org/dc/terms/identifier | "doi:10.1016/s0378-1119(00)00050-0"xsd:string |
| http://purl.uniprot.org/citations/10767557 | http://purl.uniprot.org/core/author | "Meitinger T."xsd:string |
| http://purl.uniprot.org/citations/10767557 | http://purl.uniprot.org/core/author | "Meitinger T."xsd:string |
| http://purl.uniprot.org/citations/10767557 | http://purl.uniprot.org/core/author | "Strom T.M."xsd:string |
| http://purl.uniprot.org/citations/10767557 | http://purl.uniprot.org/core/author | "Strom T.M."xsd:string |
| http://purl.uniprot.org/citations/10767557 | http://purl.uniprot.org/core/author | "Lorenz B."xsd:string |
| http://purl.uniprot.org/citations/10767557 | http://purl.uniprot.org/core/author | "Lorenz B."xsd:string |
| http://purl.uniprot.org/citations/10767557 | http://purl.uniprot.org/core/author | "Econs M.J."xsd:string |
| http://purl.uniprot.org/citations/10767557 | http://purl.uniprot.org/core/author | "Econs M.J."xsd:string |
| http://purl.uniprot.org/citations/10767557 | http://purl.uniprot.org/core/author | "White K.E."xsd:string |
| http://purl.uniprot.org/citations/10767557 | http://purl.uniprot.org/core/author | "White K.E."xsd:string |
| http://purl.uniprot.org/citations/10767557 | http://purl.uniprot.org/core/author | "Evans W.E."xsd:string |
| http://purl.uniprot.org/citations/10767557 | http://purl.uniprot.org/core/author | "Evans W.E."xsd:string |
| http://purl.uniprot.org/citations/10767557 | http://purl.uniprot.org/core/date | "2000"xsd:gYear |
| http://purl.uniprot.org/citations/10767557 | http://purl.uniprot.org/core/date | "2000"xsd:gYear |
| http://purl.uniprot.org/citations/10767557 | http://purl.uniprot.org/core/name | "Gene"xsd:string |
| http://purl.uniprot.org/citations/10767557 | http://purl.uniprot.org/core/name | "Gene"xsd:string |
| http://purl.uniprot.org/citations/10767557 | http://purl.uniprot.org/core/pages | "347-356"xsd:string |
| http://purl.uniprot.org/citations/10767557 | http://purl.uniprot.org/core/pages | "347-356"xsd:string |
| http://purl.uniprot.org/citations/10767557 | http://purl.uniprot.org/core/title | "Molecular cloning of a novel human UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase, GalNAc-T8, and analysis as a candidate autosomal dominant hypophosphatemic rickets (ADHR) gene."xsd:string |
| http://purl.uniprot.org/citations/10767557 | http://purl.uniprot.org/core/title | "Molecular cloning of a novel human UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase, GalNAc-T8, and analysis as a candidate autosomal dominant hypophosphatemic rickets (ADHR) gene."xsd:string |