title: Human eukaryotic initiation factor EIF2C1 gene: cDNA sequence, genomic organization, localization to chromosomal bands 1p34-p35, and expression.
abstract: We report the cloning and characterization of the human eukaryotic protein translation initiation factor EIF2C1 gene. The human EIF2C1 gene consists of 19 exons and 18 introns that span a region of almost 50 kb. It is located on the short arm of chromosome 1 in the region 1p34-p35. This genomic region is frequently lost in human cancers such as Wilms tumors, neuroblastoma, and carcinomas of the breast, liver, and colon. The human EIF2C1 gene is ubiquitously expressed at low to medium levels. Differential polyadenylation and splicing result in a complex transcriptional pattern. The cDNA sequence is 7478 bp long and contains an extremely large 3' untranslated region of 4799 bp with multiple, short repeated segments composed of mono-, tri-, or quattronucleotides interspersed throughout. The human EIF2C1 gene belongs to a multigene family in human. It is highly conserved during evolution, sharing about 90% identity with rabbit eIF2C and 70% identity with plant AGO1 at the amino acid level. These facts suggest that human EIF2C1 might play an important physiological role.
authors.affiliation: Institute of Clinical Pathology, Department of Pathology, University Hospital of Zurich, Schmelzbergstrasse 12, Zurich, 8091, Switzerland. R.Koesters@dkfz-heidelberg.de
authors.forename: R
authors.initials: R
authors.lastname: Koesters
authors.forename: V
authors.initials: V
authors.lastname: Adams
authors.forename: D
authors.initials: D
authors.lastname: Betts
authors.forename: R
authors.initials: R
authors.lastname: Moos
authors.forename: M
authors.initials: M
authors.lastname: Schmid
authors.forename: A
authors.initials: A
authors.lastname: Siermann
authors.forename: S
authors.initials: S
authors.lastname: Hassam
authors.forename: S
authors.initials: S
authors.lastname: Weitz
authors.forename: P
authors.initials: P
authors.lastname: Lichter
authors.forename: P U
authors.initials: PU
authors.lastname: Heitz
authors.forename: M
authors.initials: M
authors.lastname: von Knebel Doeberitz
authors.forename: J
authors.initials: J
authors.lastname: Briner
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D060565:Argonaute Proteins; D001483:Base Sequence; D015152:Blotting, Northern; D002871:Chromosome Banding; D002874:Chromosome Mapping; D002878:Chromosomes, Human, Pair 1; D003001:Cloning, Molecular; D017124:Conserved Sequence; D039642:Eukaryotic Initiation Factors; D005260:Female; D005333:Fetus / Q000378:metabolism; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008969:Molecular Sequence Data; D010448:Peptide Initiation Factors / Q000235:genetics* / Q000378:metabolism; D012333:RNA, Messenger / Q000378:metabolism; D016415:Sequence Alignment; D014158:Transcription, Genetic
chemical_list: C115848:AGO1 protein, human; D060565:Argonaute Proteins; D039642:Eukaryotic Initiation Factors; D010448:Peptide Initiation Factors; D012333:RNA, Messenger