Biology:UFD1L

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Short description: Protein-coding gene in the species Homo sapiens


A representation of the 3D structure of the protein myoglobin showing turquoise α-helices.
Generic protein structure example

Ubiquitin fusion degradation protein 1 homolog is a protein that in humans is encoded by the UFD1L gene.[1][2]

Function

The protein encoded by this gene forms a complex with two other proteins, NPL4 and VCP, that is necessary for the degradation of ubiquitinated proteins. In addition, this complex controls the disassembly of the mitotic spindle and the formation of a closed nuclear envelope after mitosis. Mutations in this gene have been associated with Catch 22 syndrome as well as cardiac and craniofacial defects. Alternative splicing results in multiple transcript variants encoding different isoforms.[2]

Interactions

UFD1L has been shown to interact with NPLOC4.[3][4]

References

  1. "UFD1L, a developmentally expressed ubiquitination gene, is deleted in CATCH 22 syndrome". Hum. Mol. Genet. 6 (2): 259–65. August 1997. doi:10.1093/hmg/6.2.259. PMID 9063746. 
  2. 2.0 2.1 "Entrez Gene: UFD1L ubiquitin fusion degradation 1 like (yeast)". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=7353. 
  3. "Cloning and characterization of the gene encoding human NPL4, a protein interacting with the ubiquitin fusion-degradation protein (UFD1L)". Gene 275 (1): 39–46. September 2001. doi:10.1016/S0378-1119(01)00649-7. PMID 11574150. 
  4. "Analysis of Npl4 deletion mutants in mammalian cells unravels new Ufd1-interacting motifs and suggests a regulatory role of Npl4 in ERAD". Exp. Cell Res. 314 (14): 2715–23. August 2008. doi:10.1016/j.yexcr.2008.06.008. PMID 18586029. 

Further reading