PubMed:1827260 JSONTXT

{"target":"https://pubannotation.org/docs/sourcedb/PubMed/sourceid/1827260","sourcedb":"PubMed","sourceid":"1827260","source_url":"http://www.ncbi.nlm.nih.gov/pubmed/1827260","text":"Organization and localization to chromosome 5 of the human UDP-N-acetylglucosamine:alpha-3-D-mannoside beta-1,2-N-acetylglucosaminyltransferase I gene.\nUDP-N-acetylglucosamine:alpha-3-D-mannoside beta-1,2-N-acetylglucosaminyltransferase I (GlcNAc-T I; EC 2.4.1.101) is a medial-Golgi enzyme essential for the synthesis of hybrid and complex N-glycans. We have isolated two overlapping genomic DNA clones which span 18 kilobases (kb) containing a single 2.5 kb exon for GlcNAc-T I. The exon includes most of the 5'-untranslated region, the complete coding sequence (1335 bases) for GlcNAc-T I (445 amino acids) and the complete 3'-untranslated region. The remaining exon (or exons) is at least 2.0 kb upstream of the intron-exon junction. Transient transfection of either clone into Lec 1 Chinese hamster ovary cell mutants (which lack GlcNAc-T I) indicates the presence of a promoter responsible for expression of a truncated transcript. Southern blot analysis indicates that the gene exists in single copy in the human genome and is located on chromosome 5. The human and rabbit enzymes are 85% similar at the nucleotide sequence level and 92% similar at the amino acid sequence level.","tracks":[{"project":"NGLY1-deficiency","denotations":[{"id":"PD-NGLY1-deficiency-B_T1","span":{"begin":240,"end":246},"obj":"chem:24139"},{"id":"PD-NGLY1-deficiency-B_T2","span":{"begin":469,"end":475},"obj":"chem:24139"},{"id":"PD-NGLY1-deficiency-B_T3","span":{"begin":581,"end":587},"obj":"chem:24139"},{"id":"PD-NGLY1-deficiency-B_T4","span":{"begin":835,"end":841},"obj":"chem:24139"}],"namespaces":[{"prefix":"hgnc","uri":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:"},{"prefix":"omim","uri":"https://www.omim.org/entry/"},{"prefix":"chem","uri":"https://pubchem.ncbi.nlm.nih.gov/compound/"}],"attributes":[{"subj":"PD-NGLY1-deficiency-B_T1","pred":"source","obj":"NGLY1-deficiency"},{"subj":"PD-NGLY1-deficiency-B_T2","pred":"source","obj":"NGLY1-deficiency"},{"subj":"PD-NGLY1-deficiency-B_T3","pred":"source","obj":"NGLY1-deficiency"},{"subj":"PD-NGLY1-deficiency-B_T4","pred":"source","obj":"NGLY1-deficiency"}]},{"project":"ggdb-test","denotations":[{"id":"T1","span":{"begin":240,"end":250},"obj":"https://acgg.asia/db/ggdb/info/gg125"},{"id":"T2","span":{"begin":469,"end":479},"obj":"https://acgg.asia/db/ggdb/info/gg125"},{"id":"T3","span":{"begin":581,"end":591},"obj":"https://acgg.asia/db/ggdb/info/gg125"},{"id":"T4","span":{"begin":835,"end":845},"obj":"https://acgg.asia/db/ggdb/info/gg125"}],"attributes":[{"subj":"T1","pred":"source","obj":"ggdb-test"},{"subj":"T2","pred":"source","obj":"ggdb-test"},{"subj":"T3","pred":"source","obj":"ggdb-test"},{"subj":"T4","pred":"source","obj":"ggdb-test"}]},{"project":"glycogenes","denotations":[{"id":"PD-GlycoGenes20190927-B_T1","span":{"begin":240,"end":250},"obj":"https://acgg.asia/db/ggdb/info/gg125"},{"id":"PD-GlycoGenes20190927-B_T2","span":{"begin":469,"end":479},"obj":"https://acgg.asia/db/ggdb/info/gg125"},{"id":"PD-GlycoGenes20190927-B_T3","span":{"begin":581,"end":591},"obj":"https://acgg.asia/db/ggdb/info/gg125"},{"id":"PD-GlycoGenes20190927-B_T4","span":{"begin":835,"end":845},"obj":"https://acgg.asia/db/ggdb/info/gg125"}],"attributes":[{"subj":"PD-GlycoGenes20190927-B_T1","pred":"source","obj":"glycogenes"},{"subj":"PD-GlycoGenes20190927-B_T2","pred":"source","obj":"glycogenes"},{"subj":"PD-GlycoGenes20190927-B_T3","pred":"source","obj":"glycogenes"},{"subj":"PD-GlycoGenes20190927-B_T4","pred":"source","obj":"glycogenes"}]},{"project":"GGDB-2020","denotations":[{"id":"T1","span":{"begin":240,"end":250},"obj":"https://acgg.asia/db/ggdb/info/gg125"},{"id":"T2","span":{"begin":469,"end":479},"obj":"https://acgg.asia/db/ggdb/info/gg125"},{"id":"T3","span":{"begin":581,"end":591},"obj":"https://acgg.asia/db/ggdb/info/gg125"},{"id":"T4","span":{"begin":835,"end":845},"obj":"https://acgg.asia/db/ggdb/info/gg125"}],"attributes":[{"subj":"T1","pred":"source","obj":"GGDB-2020"},{"subj":"T2","pred":"source","obj":"GGDB-2020"},{"subj":"T3","pred":"source","obj":"GGDB-2020"},{"subj":"T4","pred":"source","obj":"GGDB-2020"}]}],"config":{"attribute types":[{"pred":"source","value type":"selection","values":[{"id":"NGLY1-deficiency","color":"#c293ec","default":true},{"id":"ggdb-test","color":"#93eca8"},{"id":"glycogenes","color":"#ec9397"},{"id":"GGDB-2020","color":"#93b1ec"}]}]}}