title: Genomic structure of human lysosomal glycosylasparaginase.
abstract: The gene structure of the human lysosomal enzyme glycosylasparaginase was determined. The gene spans 13 kb and consists of 9 exons. Both 5' and 3' untranslated regions of the gene are uninterrupted by introns. A number of transcriptional elements were identified in the 5' upstream sequence that includes two putative CAAT boxes followed by TATA-like sequences together with two AP-2 binding sites and one for Spl. A 100 bp CpG island and several ETF binding sites were also found. Additional AP-2 and Sp1 binding sites are present in the first intron. Two polyadenylation sites are present and appear to be functional. The major known glycosylasparaginase gene defect G488----C, which causes the lysosomal storage disease aspartylglycosaminuria (AGU) in Finland, is located in exon 4. Exon 5 encodes the post-translational cleavage site for the formation of the mature alpha/beta subunits of the enzyme as well as a recently proposed active site threonine, Thr206.
authors.affiliation: Department of Molecular and Cell Biology, Althouse Laboratory, Pennsylvania State University, University Park 16802.
authors.forename: H
authors.initials: H
authors.lastname: Park
authors.forename: K J
authors.initials: KJ
authors.lastname: Fisher
authors.forename: N N
authors.initials: NN
authors.lastname: Aronson
mesh_terms: D000117:Acetylglucosamine / Q000031:analogs & derivatives* / Q000652:urine; D001227:Aspartylglucosylaminase / Q000235:genetics*; D001483:Base Sequence; D001665:Binding Sites; D005091:Exons / Q000235:genetics; D006029:Glycosuria / Q000201:enzymology / Q000235:genetics*; D006801:Humans; D007438:Introns / Q000235:genetics; D008247:Lysosomes / Q000201:enzymology*; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics; D011401:Promoter Regions, Genetic / Q000235:genetics; D011499:Protein Processing, Post-Translational; D016385:TATA Box / Q000235:genetics
chemical_list: C000009:N-acetylglucosaminylasparagine; D001227:Aspartylglucosylaminase; D000117:Acetylglucosamine