UFD1L

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UFD1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesUFD1, UFD1L, ubiquitin fusion degradation 1 like (yeast), ubiquitin recognition factor in ER associated degradation 1
External IDsMGI: 109353 HomoloGene: 39090 GeneCards: UFD1
Gene location (Human)
Chromosome 22 (human)
Chr.Chromosome 22 (human)[1]
Chromosome 22 (human)
Genomic location for UFD1
Genomic location for UFD1
Band22q11.21Start19,449,910 bp[1]
End19,479,215 bp[1]
RNA expression pattern
PBB GE UFD1L 209103 s at fs.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001035247
NM_005659
NM_001362910

NM_011672

RefSeq (protein)

NP_001030324
NP_005650
NP_001349839

NP_035802

Location (UCSC)Chr 22: 19.45 – 19.48 MbChr 16: 18.81 – 18.84 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Ubiquitin fusion degradation protein 1 homolog is a protein that in humans is encoded by the UFD1L gene.[5][6]

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.[6]

Interactions[edit]

UFD1L has been shown to interact with NPLOC4.[7][8]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000070010 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000005262 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:".
  4. ^ "Mouse PubMed Reference:".
  5. ^ Pizzuti A, Novelli G, Ratti A, Amati F, Mari A, Calabrese G, Nicolis S, Silani V, Marino B, Scarlato G, Ottolenghi S, Dallapiccola B (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.
  6. ^ a b "Entrez Gene: UFD1L ubiquitin fusion degradation 1 like (yeast)".
  7. ^ 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.
  8. ^ 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.

Further reading[edit]