Structure and expression of the human ubiquitin fusion - Degradation gene (UFD1L)

Giuseppe Novelli, Aldo Mari, Francesca Amati, Alessia Colosimo, Federica Sangiuolo, Mario Bengala, Emanuela Conti, Antonia Ratti, Roberta Bordoni, Antonio Pizzuti, Antonio Baldini, Rita Crinelli, Franco Pandolfi, Mauro Magnani, Bruno Dallapiccola

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)158-162
Number of pages5
JournalBBA - Gene Structure and Expression
Issue number2
Publication statusPublished - Mar 9 1998


  • Chromosome 22
  • DiGeorge syndrome
  • Expression
  • Ubiquitin

ASJC Scopus subject areas

  • Biochemistry
  • Genetics
  • Structural Biology
  • Biophysics


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