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Gene Review

UFD1L  -  ubiquitin fusion degradation 1 like (yeast)

Homo sapiens

Synonyms: UB fusion protein 1, UFD1, Ubiquitin fusion degradation protein 1 homolog
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Disease relevance of UFD1L

  • Although the UFD1L gene has been mapped in the region commonly deleted in patients with DiGeorge syndrome (DGS)/velocardiofacial syndrome (VCFS), correlation between its haploinsufficiency and the phenotype has not yet been established [1].
  • Our data suggest that, although the UFD1L gene is mapped to 22q11 and is expressed during early murine development at both cardiac and cranial neural crests, it is not responsible for the majority of tetralogy of Fallot cases in humans [2].

High impact information on UFD1L


Biological context of UFD1L


Anatomical context of UFD1L


Physical interactions of UFD1L

  • We show that Ufd1 directly interacts with gp78 and functions as a cofactor [13].

Other interactions of UFD1L

  • The deletion of exon 2 of the UFD1L gene and TUPLE1 gene was identified in 13 patients (13/14 cases; 93%) [14].
  • UFD1L (Ubiquitin Fusion Degradation 1 Like) gene encodes for a component of a multi-complex involved in the degradation of ubiquitin fusion proteins [8].
  • The ESTs mapped using the 7000 rad IMpRH panel (Hawken et al., 1999) were ubiquitin fusion-degradation 1 like protein (UFD1L), ubiquitin activating enzyme E1 and ubiquitin-S27a fusion protein which mapped to porcine chromosomes 14, 7 and X, respectively [15].

Analytical, diagnostic and therapeutic context of UFD1L


  1. Cloning and characterization of the gene encoding human NPL4, a protein interacting with the ubiquitin fusion-degradation protein (UFD1L). Botta, A., Tandoi, C., Fini, G., Calabrese, G., Dallapiccola, B., Novelli, G. Gene (2001) [Pubmed]
  2. Absence of mutations in human ubiquitin fusion-degradation protein gene in tetralogy of Fallot. Chung, M.Y., Lu, J.H., Weng, Y.Y., Hwang, B. J. Mol. Med. (2001) [Pubmed]
  3. A molecular pathway revealing a genetic basis for human cardiac and craniofacial defects. Yamagishi, H., Garg, V., Matsuoka, R., Thomas, T., Srivastava, D. Science (1999) [Pubmed]
  4. UFD1L and CDC45L: a role in DiGeorge syndrome and related phenotypes? Novelli, G., Amati, F., Dallapiccola, B. Trends Genet. (1999) [Pubmed]
  5. Mutations of UFD1L are not responsible for the majority of cases of DiGeorge Syndrome/velocardiofacial syndrome without deletions within chromosome 22q11. Wadey, R., McKie, J., Papapetrou, C., Sutherland, H., Lohman, F., Osinga, J., Frohn, I., Hofstra, R., Meijers, C., Amati, F., Conti, E., Pizzuti, A., Dallapiccola, B., Novelli, G., Scambler, P. Am. J. Hum. Genet. (1999) [Pubmed]
  6. UFD1L, a developmentally expressed ubiquitination gene, is deleted in CATCH 22 syndrome. Pizzuti, A., Novelli, G., Ratti, A., Amati, F., Mari, A., Calabrese, G., Nicolis, S., Silani, V., Marino, B., Scarlato, G., Ottolenghi, S., Dallapiccola, B. Hum. Mol. Genet. (1997) [Pubmed]
  7. UFD1L is not the monogenic basis for heart defects associated with the CATCH phenotype. Goodship, J.A., Burn, J. Molecular medicine today. (2000) [Pubmed]
  8. Functional characterization of the 5' flanking region of human ubiquitin fusion degradation 1 like gene (UFD1L). Amati, F., Conti, E., Botta, A., Amicucci, P., Dallapiccola, B., Novelli, G. Cell Biochem. Funct. (2002) [Pubmed]
  9. A common cis-acting sequence in the DiGeorge critical region regulates bi-directional transcription of UFD1L and CDC45L. Kunte, A., Ivey, K., Yamagishi, C., Garg, V., Yamagishi, H., Srivastava, D. Mech. Dev. (2001) [Pubmed]
  10. Characterization of the bi-directional transcriptional control region between the human UFD1L and CDC45L genes. Igaki, H., Nakagawa, K., Aoki, Y., Ohtomo, K., Kukimoto, I., Kanda, T. Biochem. Biophys. Res. Commun. (2001) [Pubmed]
  11. Association study of a promoter polymorphism of UFD1L gene with schizophrenia. De Luca, A., Pasini, A., Amati, F., Botta, A., Spalletta, G., Alimenti, S., Caccamo, F., Conti, E., Trakalo, J., Macciardi, F., Dallapiccola, B., Novelli, G. Am. J. Med. Genet. (2001) [Pubmed]
  12. Ubiquitin fusion degradation 1-like gene dysregulation in bicuspid aortic valve. Mohamed, S.A., Hanke, T., Schlueter, C., Bullerdiek, J., Sievers, H.H. J. Thorac. Cardiovasc. Surg. (2005) [Pubmed]
  13. Ufd1 is a cofactor of gp78 and plays a key role in cholesterol metabolism by regulating the stability of HMG-CoA reductase. Cao, J., Wang, J., Qi, W., Miao, H.H., Wang, J., Ge, L., DeBose-Boyd, R.A., Tang, J.J., Li, B.L., Song, B.L. Cell Metab. (2007) [Pubmed]
  14. Molecular characterization of tetralogy of fallot within Digeorge critical region of the chromosome 22. Lu, J.H., Chung, M.Y., Betau, H., Chien, H.P., Lu, J.K. Pediatric cardiology. (2001) [Pubmed]
  15. Identification and radiation hybrid mapping of members of the porcine proteasome/ubiquitin system. Rink, A., Santschi, E.M., Mendoza, K.M., Alexander, L.J., Beattie, C.W. Anim. Biotechnol. (1999) [Pubmed]
  16. Structure and expression of the human ubiquitin fusion-degradation gene (UFD1L). Novelli, G., Mari, A., Amati, F., Colosimo, A., Sangiuolo, F., Bengala, M., Conti, E., Ratti, A., Bordoni, R., Pizzuti, A., Baldini, A., Crinelli, R., Pandolfi, F., Magnani, M., Dallapiccola, B. Biochim. Biophys. Acta (1998) [Pubmed]
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