Organization and localization to chromosome 5 of the human UDP-N-acetylglucosamine:alpha-3-D-mannoside beta-1,2-N-acetylglucosaminyltransferase I gene.
UDP-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.
Hull
E
E
Research Institute, Hospital for Sick Children, Toronto, Canada.
Sarkar
M
M
Spruijt
M P
MP
Höppener
J W
JW
Dunn
R
R
Schachter
H
H
D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D015152:Blotting, Northern; D002895:Chromosomes, Human, Pair 5 / Q000201:enzymology*; D003001:Cloning, Molecular; D006224:Cricetinae; D003412:Cricetulus; D005091:Exons; D015870:Gene Expression; D005964:Glucosyltransferases / Q000096:biosynthesis / Q000235:genetics*; D006801:Humans; D007438:Introns; D008099:Liver / Q000201:enzymology*; D008958:Models, Molecular; D008969:Molecular Sequence Data; D017351:N-Acetylglucosaminyltransferases; D011817:Rabbits; D015183:Restriction Mapping; D014162:Transfection
D005964:Glucosyltransferases; D017351:N-Acetylglucosaminyltransferases; C024850:alpha-1,3-mannosyl-glycoprotein beta-1,2-N-acetylglucosaminyltransferase I