title: Structures of the human gene for the protein disulfide isomerase-related polypeptide ERp60 and a processed gene and assignment of these genes to 15q15 and 1q21.
abstract: ERp60 (also known as ERp61 or GRP58) is an isoform of protein disulfide isomerase (PDI) that has two thioredoxin-like domains a and a' in positions corresponding to those of domains a and a' in the PDI polypeptide and shows a significant amino acid sequence similarity to PDI in almost all parts. We report here that the human ERp60 gene is about 18 kb in size and consists of 13 exons. No distinct correlation was found between its exon-intron organization and the modular structure of the ERp60 polypeptide, nor were any similarities in exon-intron organization found between the human ERp60, PDI, and thioredoxin genes. The 5' flanking region of the ERp60 gene has no TATAA box or CCAAT motif but contains several potential binding sites for transcription factors. The highest levels of expression of the ERp60 mRNA were found by Northern blotting in the liver, placenta, lung, pancreas, and kidney, and the lowest in the heart, skeletal muscle, and brain. We also isolated an intronless ERp60 gene that probably represents a pseudogene. The ERp60 gene was mapped by fluorescence in situ hybridization to 15q15 and the processed gene to 1q21, so that neither was located on the same chromosome as the human PDI and thioredoxin genes.
authors.affiliation: Collagen Research Unit, Biocenter, and Department of Medical Biochemistry, University of Oulu, Finland.
authors.forename: P
authors.initials: P
authors.lastname: Koivunen
authors.forename: N
authors.initials: N
authors.lastname: Horelli-Kuitunen
authors.forename: T
authors.initials: T
authors.lastname: Helaakoski
authors.forename: P
authors.initials: P
authors.lastname: Karvonen
authors.forename: M
authors.initials: M
authors.lastname: Jaakkola
authors.forename: A
authors.initials: A
authors.lastname: Palotie
authors.forename: K I
authors.initials: KI
authors.lastname: Kivirikko
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D002874:Chromosome Mapping; D002878:Chromosomes, Human, Pair 1; D002884:Chromosomes, Human, Pair 15; D003001:Cloning, Molecular; D004247:DNA; D005091:Exons; D015870:Gene Expression; D006360:Heat-Shock Proteins / Q000737:chemistry / Q000235:genetics*; D006801:Humans; D007438:Introns; D007535:Isomerases / Q000737:chemistry / Q000235:genetics*; D008969:Molecular Sequence Data; D010455:Peptides / Q000737:chemistry / Q000235:genetics; D019704:Protein Disulfide-Isomerases; D011544:Pseudogenes; D013879:Thioredoxins / Q000235:genetics*
chemical_list: D006360:Heat-Shock Proteins; D010455:Peptides; D013879:Thioredoxins; D004247:DNA; D007535:Isomerases; D019704:Protein Disulfide-Isomerases; C085868:PDIA3 protein, human