UFD1L

UFD1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2YUJ, 5C1B
Identifiers
Aliases	UFD1 , UFD1L, ubiquitin fusion degradation 1 like (yeast), ubiquitin recognition factor in ER associated degradation 1
External IDs	OMIM: 601754 MGI: 109353 HomoloGene: 39090 GeneCards: UFD1
Gene location (Human) Chr. Chromosome 22 (human) [1] Band 22q11.21 Start 19,449,911 bp [1] End 19,479,202 bp [1]
Gene location (Mouse) Chr. Chromosome 16 (mouse) [2] Band 16 A3|16 11.65 cM Start 18,630,529 bp [2] End 18,654,011 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in islet of Langerhans corpus epididymis gastrocnemius muscle stromal cell of endometrium palpebral conjunctiva cavity of mouth placenta vulva human penis cancellous bone Top expressed in dorsomedial hypothalamic nucleus median eminence seminiferous tubule habenula ventral tegmental area superior cervical ganglion cerebellar cortex subiculum paraventricular nucleus of hypothalamus spermatid More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein-containing complex binding ATPase binding K48-linked polyubiquitin modification-dependent protein binding signaling receptor binding protein binding thiol-dependent deubiquitinase Cellular component cytoplasm cytosol nucleus UFD1-NPL4 complex nucleoplasm endoplasmic reticulum VCP-NPL4-UFD1 AAA ATPase complex Biological process error-free translesion synthesis skeletal system development retrograde protein transport, ER to cytosol ER-associated misfolded protein catabolic process proteasome-mediated ubiquitin-dependent protein catabolic process ubiquitin-dependent protein catabolic process protein deubiquitination negative regulation of type I interferon production negative regulation of RIG-I signaling pathway Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 7353 22230 Ensembl ENSG00000070010 ENSMUSG00000005262 UniProt Q92890 P70362 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 Mb Chr 16: 18.63 – 18.65 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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

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. ^[6]

Interactions

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

References

1. GRCh38: Ensembl release 89: ENSG00000070010 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000005262 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
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. "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

• 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. doi:10.1016/0378-1119(94)90802-8. PMID   8125298.
• Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID   9373149.
• 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 (1998). "Structure and expression of the human ubiquitin fusion-degradation gene (UFD1L)". Biochim. Biophys. Acta. 1396 (2): 158–62. doi:10.1016/s0167-4781(97)00211-x. PMID   9540831.
• Yamagishi H, Garg V, Matsuoka R, Thomas T, Srivastava D (1999). "A molecular pathway revealing a genetic basis for human cardiac and craniofacial defects". Science. 283 (5405): 1158–61. Bibcode:1999Sci...283.1158Y. doi:10.1126/science.283.5405.1158. PMID   10024240.
• Hartley JL, Temple GF, Brasch MA (2000). "DNA cloning using in vitro site-specific recombination". Genome Res. 10 (11): 1788–95. doi:10.1101/gr.143000. PMC   310948 . PMID   11076863.
• Botta A, Tandoi C, Fini G, Calabrese G, Dallapiccola B, Novelli G (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.
• Amati F, Conti E, Botta A, Amicucci P, Dallapiccola B, Novelli G (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. S2CID   13377004.
• Amati F, Condò I, Conti E, Sangiuolo F, Dallapiccola B, Testi R, Novelli G (2003). "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. S2CID   37752313.
• Ye Y, Shibata Y, Yun C, Ron D, Rapoport TA (2004). "A membrane protein complex mediates retro-translocation from the ER lumen into the cytosol". Nature. 429 (6994): 841–7. Bibcode:2004Natur.429..841Y. doi:10.1038/nature02656. PMID   15215856. S2CID   4317750.
• Collins JE, Wright CL, Edwards CA, Davis MP, Grinham JA, Cole CG, Goward ME, Aguado B, Mallya M, Mokrab Y, Huckle EJ, Beare DM, Dunham I (2004). "A genome annotation-driven approach to cloning the human ORFeome". Genome Biol. 5 (10): R84. doi:10.1186/gb-2004-5-10-r84. PMC   545604 . PMID   15461802.
• Wiemann S, Arlt D, Huber W, Wellenreuther R, Schleeger S, Mehrle A, Bechtel S, Sauermann M, Korf U, Pepperkok R, Sültmann H, Poustka A (2004). "From ORFeome to biology: a functional genomics pipeline". Genome Res. 14 (10B): 2136–44. doi:10.1101/gr.2576704. PMC   528930 . PMID   15489336.
• Oh JH, Yang JO, Hahn Y, Kim MR, Byun SS, Jeon YJ, Kim JM, Song KS, Noh SM, Kim S, Yoo HS, Kim YS, Kim NS (2005). "Transcriptome analysis of human gastric cancer". Mamm. Genome. 16 (12): 942–54. doi:10.1007/s00335-005-0075-2. PMID   16341674. S2CID   69278.
• Mehrle A, Rosenfelder H, Schupp I, del Val C, Arlt D, Hahne F, Bechtel S, Simpson J, Hofmann O, Hide W, Glatting KH, Huber W, Pepperkok R, Poustka A, Wiemann S (2006). "The LIFEdb database in 2006". Nucleic Acids Res. 34 (Database issue): D415-8. doi:10.1093/nar/gkj139. PMC   1347501 . 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, Miao HH, Wang J, Ge L, DeBose-Boyd RA, Tang JJ, Li BL, Song BL (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.