UFD1L

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Ubiquitin fusion degradation 1 like (yeast)
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols UFD1L ; UFD1
External IDs OMIM601754 MGI109353 HomoloGene39090 GeneCards: UFD1L Gene
RNA expression pattern
PBB GE UFD1L 209103 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 7353 22230
Ensembl ENSG00000070010 ENSMUSG00000005262
UniProt Q92890 P70362
RefSeq (mRNA) NM_001035247 NM_011672
RefSeq (protein) NP_001030324 NP_035802
Location (UCSC) Chr 22:
19.44 – 19.47 Mb
Chr 16:
18.81 – 18.84 Mb
PubMed search [1] [2]

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

Function[edit]

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[edit]

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

References[edit]

  1. ^ Pizzuti A, Novelli G, Ratti A, Amati F, Mari A, Calabrese G et al. (August 1997). "UFD1L, a developmentally expressed ubiquitination gene, is deleted in CATCH 22 syndrome". Hum. Mol. Genet. 6 (2): 259–65. doi:10.1093/hmg/6.2.259. PMID 9063746. 
  2. ^ a b "Entrez Gene: UFD1L ubiquitin fusion degradation 1 like (yeast)". 
  3. ^ Botta A, Tandoi C, Fini G, Calabrese G, Dallapiccola B, Novelli G (September 2001). "Cloning and characterization of the gene encoding human NPL4, a protein interacting with the ubiquitin fusion-degradation protein (UFD1L)". Gene 275 (1): 39–46. doi:10.1016/S0378-1119(01)00649-7. PMID 11574150. 
  4. ^ Lass A, McConnell E, Fleck K, Palamarchuk A, Wójcik C (August 2008). "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. doi:10.1016/j.yexcr.2008.06.008. PMID 18586029.  Vancouver style error (help)


Further reading[edit]