Structure and expression of the human ubiquitin fusion-degradation gene (UFD1L).
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.
Novelli
G
G
Dipartimento di Sanità Pubblica e Biologia Cellulare, Università di Roma, Italy. novelli@utovrm.it
Mari
A
A
Amati
F
F
Colosimo
A
A
Sangiuolo
F
F
Bengala
M
M
Conti
E
E
Ratti
A
A
Bordoni
R
R
Pizzuti
A
A
Baldini
A
A
Crinelli
R
R
Pandolfi
F
F
Magnani
M
M
Dallapiccola
B
B
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
D033942:Adaptor Proteins, Vesicular Transport; D047908:Intracellular Signaling Peptides and Proteins; D011506:Proteins; C491497:UFD1 protein, human; D012313:RNA