UFD1L

From Wikipedia, the free encyclopedia

Ubiquitin fusion degradation 1 like (yeast)

Identifiers

External IDs

OMIM: 601754 MGI: 109353 HomoloGene: 39090

Gene ontology
Molecular Function:	• ubiquitin-specific protease activity
Biological Process:	• skeletal development • ubiquitin-dependent protein catabolic process • ubiquitin cycle

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

n/a

Refseq

NM_001035247 (mRNA)
NP_001030324 (protein)

NM_011672 (mRNA)
NP_035802 (protein)

Location

Chr 22: 17.82 - 17.85 Mb

Chr 16: 18.73 - 18.75 Mb

Pubmed search

[1]

[2]

Ubiquitin fusion degradation 1 like (yeast), also known as UFD1L, is a human gene.^[1]

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.^[1]

[edit] References

^ ^a ^b Entrez Gene: UFD1L ubiquitin fusion degradation 1 like (yeast).

[edit] Further reading

Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.". Gene 138 (1-2): 171–4. PMID 8125298.
Pizzuti A, Novelli G, Ratti A, et al. (1997). "UFD1L, a developmentally expressed ubiquitination gene, is deleted in CATCH 22 syndrome.". Hum. Mol. Genet. 6 (2): 259–65. PMID 9063746.
Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library.". Gene 200 (1-2): 149–56. PMID 9373149.
Novelli G, Mari A, Amati F, et al. (1998). "Structure and expression of the human ubiquitin fusion-degradation gene (UFD1L).". Biochim. Biophys. Acta 1396 (2): 158–62. PMID 9540831.
Yamagishi H, Garg V, Matsuoka R, et al. (1999). "A molecular pathway revealing a genetic basis for human cardiac and craniofacial defects.". Science 283 (5405): 1158–61. PMID 10024240.
Hartley JL, Temple GF, Brasch MA (2001). "DNA cloning using in vitro site-specific recombination.". Genome Res. 10 (11): 1788–95. PMID 11076863.
Botta A, Tandoi C, Fini G, et al. (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. PMID 11574150.
Amati F, Conti E, Botta A, et al. (2002). "Functional characterization of the 5' flanking region of human ubiquitin fusion degradation 1 like gene (UFD1L).". Cell Biochem. Funct. 20 (2): 163–70. doi:10.1002/cbf.966. PMID 11979512.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.
Amati F, Condò I, Conti E, et al. (2004). "Analysis of intracellular distribution and apoptosis involvement of the Ufd1l gene product by over-expression studies.". Cell Biochem. Funct. 21 (3): 263–7. doi:10.1002/cbf.1021. PMID 12910480.
Ye Y, Shibata Y, Yun C, et al. (2004). "A membrane protein complex mediates retro-translocation from the ER lumen into the cytosol.". Nature 429 (6994): 841–7. doi:10.1038/nature02656. PMID 15215856.
Collins JE, Wright CL, Edwards CA, et al. (2005). "A genome annotation-driven approach to cloning the human ORFeome.". Genome Biol. 5 (10): R84. doi:10.1186/gb-2004-5-10-r84. PMID 15461802.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.
Wiemann S, Arlt D, Huber W, et al. (2004). "From ORFeome to biology: a functional genomics pipeline.". Genome Res. 14 (10B): 2136–44. doi:10.1101/gr.2576704. PMID 15489336.
Oh JH, Yang JO, Hahn Y, et al. (2006). "Transcriptome analysis of human gastric cancer.". Mamm. Genome 16 (12): 942–54. doi:10.1007/s00335-005-0075-2. PMID 16341674.
Mehrle A, Rosenfelder H, Schupp I, et al. (2006). "The LIFEdb database in 2006.". Nucleic Acids Res. 34 (Database issue): D415–8. doi:10.1093/nar/gkj139. PMID 16381901.
McConnell E, Lass A, Wójcik C (2007). "Ufd1-Npl4 is a negative regulator of cholera toxin retrotranslocation.". Biochem. Biophys. Res. Commun. 355 (4): 1087–90. doi:10.1016/j.bbrc.2007.02.077. PMID 17331469.
Cao J, Wang J, Qi W, et al. (2007). "Ufd1 is a cofactor of gp78 and plays a key role in cholesterol metabolism by regulating the stability of HMG-CoA reductase.". Cell Metab. 6 (2): 115–28. doi:10.1016/j.cmet.2007.07.002. PMID 17681147.