UFD1L: Difference between revisions

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<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{Infobox_gene}}
{{PBB_Controls
'''Ubiquitin fusion degradation protein 1 homolog''' is a [[protein]] that in humans is encoded by the ''UFD1L'' [[gene]].<ref name="pmid9063746">{{cite journal | vauthors = Pizzuti A, Novelli G, Ratti A, Amati F, Mari A, Calabrese G, Nicolis S, Silani V, Marino B, Scarlato G, Ottolenghi S, Dallapiccola B | title = UFD1L, a developmentally expressed ubiquitination gene, is deleted in CATCH 22 syndrome | journal = Hum. Mol. Genet. | volume = 6 | issue = 2 | pages = 259–65  | date = August 1997 | pmid = 9063746 | pmc =  | doi = 10.1093/hmg/6.2.259 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: UFD1L ubiquitin fusion degradation 1 like (yeast)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=7353| accessdate = }}</ref>
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
}}


<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
== Function ==
{{GNF_Protein_box
| image =
| image_source =
| PDB =
| Name = Ubiquitin fusion degradation 1 like (yeast)
| HGNCid = 12520
| Symbol = UFD1L
| AltSymbols =; UFD1
| OMIM = 601754
| ECnumber = 
| Homologene = 39090
| MGIid = 109353
| GeneAtlas_image1 = PBB_GE_UFD1L_209103_s_at_tn.png
| Function = {{GNF_GO|id=GO:0004843 |text = ubiquitin-specific protease activity}}
| Component =
| Process = {{GNF_GO|id=GO:0001501 |text = skeletal development}} {{GNF_GO|id=GO:0006511 |text = ubiquitin-dependent protein catabolic process}} {{GNF_GO|id=GO:0006512 |text = ubiquitin cycle}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 7353
    | Hs_Ensembl = ENSG00000070010
    | Hs_RefseqProtein = NP_001030324
    | Hs_RefseqmRNA = NM_001035247
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 22
    | Hs_GenLoc_start = 17817464
    | Hs_GenLoc_end = 17846693
    | Hs_Uniprot = 
    | Mm_EntrezGene = 22230
    | Mm_Ensembl = ENSMUSG00000005262
    | Mm_RefseqmRNA = NM_011672
    | Mm_RefseqProtein = NP_035802
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 16
    | Mm_GenLoc_start = 18725889
    | Mm_GenLoc_end = 18748818
    | Mm_Uniprot = Q8C2D2
  }}
}}
'''Ubiquitin fusion degradation 1 like (yeast)''', also known as '''UFD1L''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: UFD1L ubiquitin fusion degradation 1 like (yeast)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=7353| accessdate = }}</ref>


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
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.<ref name="entrez"/>
{{PBB_Summary
| section_title =
| summary_text = 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.<ref name="entrez">{{cite web | title = Entrez Gene: UFD1L ubiquitin fusion degradation 1 like (yeast)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=7353| accessdate = }}</ref>
}}


==References==
== Interactions ==
{{reflist|2}}
==Further reading==
{{refbegin | 2}}
{{PBB_Further_reading
| citations =
*{{cite journal  | author=Maruyama K, Sugano S |title=Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides. |journal=Gene |volume=138 |issue= 1-2 |pages= 171-4 |year= 1994 |pmid= 8125298 |doi=  }}
*{{cite journal  | author=Pizzuti A, Novelli G, Ratti A, ''et al.'' |title=UFD1L, a developmentally expressed ubiquitination gene, is deleted in CATCH 22 syndrome. |journal=Hum. Mol. Genet. |volume=6 |issue= 2 |pages= 259-65 |year= 1997 |pmid= 9063746 |doi=  }}
*{{cite journal  | author=Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, ''et al.'' |title=Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library. |journal=Gene |volume=200 |issue= 1-2 |pages= 149-56 |year= 1997 |pmid= 9373149 |doi=  }}
*{{cite journal  | author=Novelli G, Mari A, Amati F, ''et al.'' |title=Structure and expression of the human ubiquitin fusion-degradation gene (UFD1L). |journal=Biochim. Biophys. Acta |volume=1396 |issue= 2 |pages= 158-62 |year= 1998 |pmid= 9540831 |doi=  }}
*{{cite journal  | author=Yamagishi H, Garg V, Matsuoka R, ''et al.'' |title=A molecular pathway revealing a genetic basis for human cardiac and craniofacial defects. |journal=Science |volume=283 |issue= 5405 |pages= 1158-61 |year= 1999 |pmid= 10024240 |doi=  }}
*{{cite journal  | author=Hartley JL, Temple GF, Brasch MA |title=DNA cloning using in vitro site-specific recombination. |journal=Genome Res. |volume=10 |issue= 11 |pages= 1788-95 |year= 2001 |pmid= 11076863 |doi=  }}
*{{cite journal  | author=Botta A, Tandoi C, Fini G, ''et al.'' |title=Cloning and characterization of the gene encoding human NPL4, a protein interacting with the ubiquitin fusion-degradation protein (UFD1L). |journal=Gene |volume=275 |issue= 1 |pages= 39-46 |year= 2001 |pmid= 11574150 |doi=  }}
*{{cite journal  | author=Amati F, Conti E, Botta A, ''et al.'' |title=Functional characterization of the 5' flanking region of human ubiquitin fusion degradation 1 like gene (UFD1L). |journal=Cell Biochem. Funct. |volume=20 |issue= 2 |pages= 163-70 |year= 2002 |pmid= 11979512 |doi= 10.1002/cbf.966 }}
*{{cite journal  | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
*{{cite journal  | author=Amati F, Condò I, Conti E, ''et al.'' |title=Analysis of intracellular distribution and apoptosis involvement of the Ufd1l gene product by over-expression studies. |journal=Cell Biochem. Funct. |volume=21 |issue= 3 |pages= 263-7 |year= 2004 |pmid= 12910480 |doi= 10.1002/cbf.1021 }}
*{{cite journal  | author=Ye Y, Shibata Y, Yun C, ''et al.'' |title=A membrane protein complex mediates retro-translocation from the ER lumen into the cytosol. |journal=Nature |volume=429 |issue= 6994 |pages= 841-7 |year= 2004 |pmid= 15215856 |doi= 10.1038/nature02656 }}
*{{cite journal  | author=Collins JE, Wright CL, Edwards CA, ''et al.'' |title=A genome annotation-driven approach to cloning the human ORFeome. |journal=Genome Biol. |volume=5 |issue= 10 |pages= R84 |year= 2005 |pmid= 15461802 |doi= 10.1186/gb-2004-5-10-r84 }}
*{{cite journal  | author=Gerhard DS, Wagner L, Feingold EA, ''et al.'' |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121-7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 }}
*{{cite journal  | author=Wiemann S, Arlt D, Huber W, ''et al.'' |title=From ORFeome to biology: a functional genomics pipeline. |journal=Genome Res. |volume=14 |issue= 10B |pages= 2136-44 |year= 2004 |pmid= 15489336 |doi= 10.1101/gr.2576704 }}
*{{cite journal  | author=Oh JH, Yang JO, Hahn Y, ''et al.'' |title=Transcriptome analysis of human gastric cancer. |journal=Mamm. Genome |volume=16 |issue= 12 |pages= 942-54 |year= 2006 |pmid= 16341674 |doi= 10.1007/s00335-005-0075-2 }}
*{{cite journal  | author=Mehrle A, Rosenfelder H, Schupp I, ''et al.'' |title=The LIFEdb database in 2006. |journal=Nucleic Acids Res. |volume=34 |issue= Database issue |pages= D415-8 |year= 2006 |pmid= 16381901 |doi= 10.1093/nar/gkj139 }}
*{{cite journal  | author=McConnell E, Lass A, Wójcik C |title=Ufd1-Npl4 is a negative regulator of cholera toxin retrotranslocation. |journal=Biochem. Biophys. Res. Commun. |volume=355 |issue= 4 |pages= 1087-90 |year= 2007 |pmid= 17331469 |doi= 10.1016/j.bbrc.2007.02.077 }}
*{{cite journal  | author=Cao J, Wang J, Qi W, ''et al.'' |title=Ufd1 is a cofactor of gp78 and plays a key role in cholesterol metabolism by regulating the stability of HMG-CoA reductase. |journal=Cell Metab. |volume=6 |issue= 2 |pages= 115-28 |year= 2007 |pmid= 17681147 |doi= 10.1016/j.cmet.2007.07.002 }}
}}
{{refend}}


{{gene-22-stub}}
UFD1L has been shown to [[Protein-protein interaction|interact]] with [[NPLOC4]].<ref name=pmid11574150>{{cite journal | vauthors = Botta A, Tandoi C, Fini G, Calabrese G, Dallapiccola B, Novelli G | title = Cloning and characterization of the gene encoding human NPL4, a protein interacting with the ubiquitin fusion-degradation protein (UFD1L) | journal = Gene | volume = 275 | issue = 1 | pages = 39–46  | date = September 2001 | pmid = 11574150 | doi = 10.1016/S0378-1119(01)00649-7 }}</ref><ref name=pmid18586029>{{cite journal | vauthors = Lass A, McConnell E, Fleck K, Palamarchuk A, Wójcik C | title = Analysis of Npl4 deletion mutants in mammalian cells unravels new Ufd1-interacting motifs and suggests a regulatory role of Npl4 in ERAD | journal = Exp. Cell Res. | volume = 314 | issue = 14 | pages = 2715–23  | date = August 2008 | pmid = 18586029 | doi = 10.1016/j.yexcr.2008.06.008 }}</ref>
{{WikiDoc Sources}}
 
== References ==
{{Reflist}}
{{Clear}}
 
== Further reading ==
{{Refbegin | 2}}
* {{cite journal | vauthors = Maruyama K, Sugano S | title = Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides | journal = Gene | volume = 138 | issue = 1-2 | pages = 171–4 | year = 1994 | pmid = 8125298 | doi = 10.1016/0378-1119(94)90802-8 }}
* {{cite journal | vauthors = Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S | title = Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library | journal = Gene | volume = 200 | issue = 1-2 | pages = 149–56 | year = 1997 | pmid = 9373149 | doi = 10.1016/S0378-1119(97)00411-3 }}
* {{cite journal | vauthors = 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 | title = Structure and expression of the human ubiquitin fusion-degradation gene (UFD1L) | journal = Biochim. Biophys. Acta | volume = 1396 | issue = 2 | pages = 158–62 | year = 1998 | pmid = 9540831 | doi = 10.1016/s0167-4781(97)00211-x }}
* {{cite journal | vauthors = Yamagishi H, Garg V, Matsuoka R, Thomas T, Srivastava D | title = A molecular pathway revealing a genetic basis for human cardiac and craniofacial defects | journal = Science | volume = 283 | issue = 5405 | pages = 1158–61 | year = 1999 | pmid = 10024240 | doi = 10.1126/science.283.5405.1158 }}
* {{cite journal | vauthors = Hartley JL, Temple GF, Brasch MA | title = DNA cloning using in vitro site-specific recombination | journal = Genome Res. | volume = 10 | issue = 11 | pages = 1788–95 | year = 2000 | pmid = 11076863 | pmc = 310948 | doi = 10.1101/gr.143000 }}
* {{cite journal | vauthors = Botta A, Tandoi C, Fini G, Calabrese G, Dallapiccola B, Novelli G | title = Cloning and characterization of the gene encoding human NPL4, a protein interacting with the ubiquitin fusion-degradation protein (UFD1L) | journal = Gene | volume = 275 | issue = 1 | pages = 39–46 | year = 2001 | pmid = 11574150 | doi = 10.1016/S0378-1119(01)00649-7 }}
* {{cite journal | vauthors = Amati F, Conti E, Botta A, Amicucci P, Dallapiccola B, Novelli G | title = Functional characterization of the 5' flanking region of human ubiquitin fusion degradation 1 like gene (UFD1L) | journal = Cell Biochem. Funct. | volume = 20 | issue = 2 | pages = 163–70 | year = 2002 | pmid = 11979512 | doi = 10.1002/cbf.966 }}
* {{cite journal | vauthors = Amati F, Condò I, Conti E, Sangiuolo F, Dallapiccola B, Testi R, Novelli G | title = Analysis of intracellular distribution and apoptosis involvement of the Ufd1l gene product by over-expression studies | journal = Cell Biochem. Funct. | volume = 21 | issue = 3 | pages = 263–7 | year = 2003 | pmid = 12910480 | doi = 10.1002/cbf.1021 }}
* {{cite journal | vauthors = Ye Y, Shibata Y, Yun C, Ron D, Rapoport TA | title = A membrane protein complex mediates retro-translocation from the ER lumen into the cytosol | journal = Nature | volume = 429 | issue = 6994 | pages = 841–7 | year = 2004 | pmid = 15215856 | doi = 10.1038/nature02656 }}
* {{cite journal | vauthors = 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 | title = A genome annotation-driven approach to cloning the human ORFeome | journal = Genome Biol. | volume = 5 | issue = 10 | pages = R84 | year = 2004 | pmid = 15461802 | pmc = 545604 | doi = 10.1186/gb-2004-5-10-r84 }}
* {{cite journal | vauthors = Wiemann S, Arlt D, Huber W, Wellenreuther R, Schleeger S, Mehrle A, Bechtel S, Sauermann M, Korf U, Pepperkok R, Sültmann H, Poustka A | title = From ORFeome to biology: a functional genomics pipeline | journal = Genome Res. | volume = 14 | issue = 10B | pages = 2136–44 | year = 2004 | pmid = 15489336 | pmc = 528930 | doi = 10.1101/gr.2576704 }}
* {{cite journal | vauthors = 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 | title = Transcriptome analysis of human gastric cancer | journal = Mamm. Genome | volume = 16 | issue = 12 | pages = 942–54 | year = 2005 | pmid = 16341674 | doi = 10.1007/s00335-005-0075-2 }}
* {{cite journal | vauthors = 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 | title = The LIFEdb database in 2006 | journal = Nucleic Acids Res. | volume = 34 | issue = Database issue | pages = D415-8 | year = 2006 | pmid = 16381901 | pmc = 1347501 | doi = 10.1093/nar/gkj139 }}
* {{cite journal | vauthors = McConnell E, Lass A, Wójcik C | title = Ufd1-Npl4 is a negative regulator of cholera toxin retrotranslocation | journal = Biochem. Biophys. Res. Commun. | volume = 355 | issue = 4 | pages = 1087–90 | year = 2007 | pmid = 17331469 | doi = 10.1016/j.bbrc.2007.02.077 }}
* {{cite journal | vauthors = Cao J, Wang J, Qi W, Miao HH, Wang J, Ge L, DeBose-Boyd RA, Tang JJ, Li BL, Song BL | title = Ufd1 is a cofactor of gp78 and plays a key role in cholesterol metabolism by regulating the stability of HMG-CoA reductase | journal = Cell Metab. | volume = 6 | issue = 2 | pages = 115–28 | year = 2007 | pmid = 17681147 | doi = 10.1016/j.cmet.2007.07.002 }}
{{Refend}}
 
 
{{Gene-22-stub}}

Latest revision as of 09:41, 17 September 2017

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

n/a

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

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. ↑ 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.
  2. ↑ 2.0 2.1 "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.

Further reading


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