Genomic structure of the human UDP-GlcNAc

dolichol-P GlcNAc-1-P transferase gene

Stefano Regis, Fabio Dagnino, Francesco Caroli, Mirella Filocamo

Research output: Contribution to journalArticle

2 Citations (Scopus)

Abstract

The UDP-GlcNAc:dolichol-P GlcNAc-1-P transferase catalyzes the first and committed step in the dolichol cycle, thus playing a fundamental role in the pathway for protein N -glycosylation. The structure of the GlcNAc-1-P transferase gene has been previously elucidated in mouse and hamster. Moreover, the human cDNA has been cloned. Using sequence database tools, we deduced the genomic structure of the human GlcNAc-1-P transferase gene, which was experimentally confirmed by sequence analysis. The gene is composed of 9 exons and spans 5.5 kb. All splice acceptor and donor sites conform to the canonical AG/GT rule. The 5′-end of the gene is different from previously reported, as, consequently, the N-terminal of the encoded protein, which is predicted to be 408 amino acids long. The transcription start site, determined by 5′ RACE, occurs 180 nucleotides upstream of the translation initiation codon. Several potential transcription regulatory motifs, such as Sp-1, E4TF1 and ATF binding sites, were identified in the 5′-flanking region. A polyadenylation signal is located 466 bp downstream of the stop codon. The genomic organization of the gene is similar to that of the corresponding mouse and hamster genes, though extensive homology is restricted to the coding regions. Analysis of a panel of radiation hybrids led to the assignment of the GlcNAc-1-P transferase gene to chromosome 11, at 4.19 cR from NIB361, according to the location of the homologous sequences in the database at 11q23.

Original languageEnglish
Pages (from-to)245-250
Number of pages6
JournalMitochondrial DNA
Volume13
Issue number5
DOIs
Publication statusPublished - 2002

Fingerprint

Dolichol
Uridine Diphosphate
Transferases
Genes
RNA Splice Sites
Cricetinae
Databases
Radiation Hybrid Mapping
Glycosylation
Chromosomes, Human, Pair 11
Polyadenylation
Initiator Codon
Terminator Codon
5' Flanking Region
Transcription Initiation Site
Transcription
Chromosomes
Sequence Homology
N-acetylglucopyranosylamine
Sequence Analysis

Keywords

  • Dolichol cycle
  • Genome
  • GlcNAc-1-P transferase gene
  • Glycosyltransferase

ASJC Scopus subject areas

  • Genetics
  • Molecular Biology
  • Biochemistry
  • Endocrinology

Cite this

Genomic structure of the human UDP-GlcNAc : dolichol-P GlcNAc-1-P transferase gene. / Regis, Stefano; Dagnino, Fabio; Caroli, Francesco; Filocamo, Mirella.

In: Mitochondrial DNA, Vol. 13, No. 5, 2002, p. 245-250.

Research output: Contribution to journalArticle

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