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

Biochimica Et Biophysica Acta
G NovelliB Dallapiccola

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.

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Citations

Mar 23, 2005·Critical Reviews in Oncology/hematology·Rosa FarràsMarc Piechaczyk
Jul 3, 1999·Trends in Genetics : TIG·G NovelliB Dallapiccola
Jan 19, 2000·Molecular Medicine Today·G NovelliB Dallapiccola
Jul 11, 2000·Clinical and Experimental Immunology·M PierdominiciF Pandolfi
May 9, 2001·Biochemical and Biophysical Research Communications·H IgakiT Kanda
Dec 2, 2005·Genes & Development·Stephen E HartmanMichael Snyder
Feb 14, 2008·American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics·Lin XieJun Wei
Jun 20, 2015·The World Journal of Biological Psychiatry : the Official Journal of the World Federation of Societies of Biological Psychiatry·Marcos Leite SantoroSintia Iole Belangero
Apr 30, 2013·Psychiatry Research·Vanessa K OtaRodrigo A Bressan
May 18, 2010·Journal of Psychiatric Research·Vanessa Kiyomi OtaMarilia de Arruda Cardoso Smith
Aug 10, 2001·American Journal of Medical Genetics·A De LucaG Novelli
Apr 30, 2002·Cell Biochemistry and Function·Francesca AmatiGiuseppe Novelli
Jan 28, 2018·Molecular Neurobiology·Patricia N MorettiSintia Belangero
Aug 10, 2000·Nature Biotechnology·M Magnani
May 8, 2001·Genetics in Medicine : Official Journal of the American College of Medical Genetics·H P De Decker, J B Lawrenson
Apr 9, 2001·Molecular and Cellular Probes·H KariyazonoT Hara

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