title: Structure and expression of the human ubiquitin fusion-degradation gene (UFD1L).
abstract: We report the genomic organization, RNA and protein expression patterns of the gene encoding for the human homolog of the yeast ubiquitin fusion-degradation protein-1 (UFD1L). This enzyme is involved in a ubiquitin-dependent proteolytic pathway (UFD), firstly described in yeast. The human UFD1L gene is organized into 12 exons ranging in size from 33 to 161 bp. Sequence analysis of the 5'-flanking region of the gene revealed a high GC content, multiple CCAAT-binding motifs, CREB, CFT, and AP-2 sites. RNA transcripts were detected in all tissues and cell lines examined, including thymus, thymocytes, T- and B-cells, fibroblasts, chorionic villi, and amniocytes. In Western blot, the UFD1L antibody demonstrated the presence of multiple protein isoforms in all the tested tissues. Expression profile and promoter characteristics suggest UFD1L is a housekeeping gene with implications in the pathogenesis of DiGeorge/velo-cardio-facial syndrome, due to 22q11.2 deletions.
authors.affiliation: Dipartimento di Sanità Pubblica e Biologia Cellulare, Università di Roma, Italy. novelli@utovrm.it
authors.forename: G
authors.initials: G
authors.lastname: Novelli
authors.forename: A
authors.initials: A
authors.lastname: Mari
authors.forename: F
authors.initials: F
authors.lastname: Amati
authors.forename: A
authors.initials: A
authors.lastname: Colosimo
authors.forename: F
authors.initials: F
authors.lastname: Sangiuolo
authors.forename: M
authors.initials: M
authors.lastname: Bengala
authors.forename: E
authors.initials: E
authors.lastname: Conti
authors.forename: A
authors.initials: A
authors.lastname: Ratti
authors.forename: R
authors.initials: R
authors.lastname: Bordoni
authors.forename: A
authors.initials: A
authors.lastname: Pizzuti
authors.forename: A
authors.initials: A
authors.lastname: Baldini
authors.forename: R
authors.initials: R
authors.lastname: Crinelli
authors.forename: F
authors.initials: F
authors.lastname: Pandolfi
authors.forename: M
authors.initials: M
authors.lastname: Magnani
authors.forename: B
authors.initials: B
authors.lastname: Dallapiccola
mesh_terms: D033942:Adaptor Proteins, Vesicular Transport; D002824:Chorionic Villi / Q000378:metabolism; D005091:Exons; D015870:Gene Expression; D005865:Gestational Age; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D007438:Introns; D011506:Proteins / Q000235:genetics*; D012313:RNA / Q000378:metabolism; D013950:Thymus Gland / Q000378:metabolism; D014158:Transcription, Genetic
chemical_list: D033942:Adaptor Proteins, Vesicular Transport; D047908:Intracellular Signaling Peptides and Proteins; D011506:Proteins; C491497:UFD1 protein, human; D012313:RNA