UBR1

UBR1
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	3NY1
Identifiers
Aliases	UBR1, JBS, ubiquitin protein ligase E3 component n-recognin 1
External IDs	OMIM: 605981; MGI: 1277977; HomoloGene: 7582; GeneCards: UBR1; OMA:UBR1 - orthologs
Gene location (Human)
Chr.	Chromosome 15 (human)
End	43,106,113 bp
Gene location (Mouse)
Chr.	Chromosome 2 (mouse)
End	120,801,196 bp
RNA expression pattern
	Top expressed in
	pancreatic epithelial cell; ; germinal epithelium; ; visceral pleura; ; endothelial cell; ; parietal pleura; ; Brodmann area 23; ; thymus; ; pancreatic ductal cell; ; epithelium of nasopharynx; ; tibia;
	Top expressed in
	ascending aorta; ; aortic valve; ; supraoptic nucleus; ; retinal pigment epithelium; ; ciliary body; ; pineal gland; ; cumulus cell; ; iris; ; genital tubercle; ; tail of embryo;
	More reference expression data
	n/a
Gene ontology
Molecular function	ubiquitin-protein transferase activity; zinc ion binding; leucine binding; metal ion binding; ubiquitin protein ligase activity; transferase activity; protein binding;
Cellular component	cytoplasm; proteasome complex; cytosol; ubiquitin ligase complex;
Biological process	negative regulation of TOR signaling; cellular response to leucine; ubiquitin-dependent protein catabolic process via the N-end rule pathway; protein catabolic process; protein ubiquitination; ubiquitin-dependent protein catabolic process;
	Sources:Amigo / QuickGO
Orthologs
	197131
	22222
	ENSG00000186359
	ENSMUSG00000027272
	Q8IWV7
	O70481
	NM_174916
	NM_009461
	NP_777576
	NP_033487
	Wikidata
View/Edit Human	View/Edit Mouse

The human gene UBR1 encodes the enzyme ubiquitin-protein ligase E3 component n-recognin 1.^[5]^[6]

The N-end rule pathway is one proteolytic pathway of the ubiquitin system. The recognition component of this pathway, encoded by this gene, binds to a destabilizing N-terminal residue of a substrate protein and participates in the formation of a substrate-linked multiubiquitin chain. This leads to the eventual degradation of the substrate protein. The protein described in this record has a RING-type zinc finger and a UBR-type zinc finger. Mutations in this gene have been associated with Johanson–Blizzard syndrome.^[6]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000186359 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000027272 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Kwon YT, Reiss Y, Fried VA, Hershko A, Yoon JK, Gonda DK, Sangan P, Copeland NG, Jenkins NA, Varshavsky A (Aug 1998). "The mouse and human genes encoding the recognition component of the N-end rule pathway". Proc Natl Acad Sci U S A. 95 (14): 7898–903. Bibcode:1998PNAS...95.7898K. doi:10.1073/pnas.95.14.7898. PMC 20901. PMID 9653112.7898-903&rft.date=1998-08&rft_id=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC20901#id-name=PMC&rft_id=info:pmid/9653112&rft_id=info:doi/10.1073/pnas.95.14.7898&rft_id=info:bibcode/1998PNAS...95.7898K&rft.aulast=Kwon&rft.aufirst=YT&rft.au=Reiss, Y&rft.au=Fried, VA&rft.au=Hershko, A&rft.au=Yoon, JK&rft.au=Gonda, DK&rft.au=Sangan, P&rft.au=Copeland, NG&rft.au=Jenkins, NA&rft.au=Varshavsky, A&rft_id=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC20901&rfr_id=info:sid/en.wikipedia.org:UBR1" class="Z3988">
^ ^a ^b "Entrez Gene: UBR1 ubiquitin protein ligase E3 component n-recognin 1".

Varshavsky A (1996). "The N-end rule: functions, mysteries, uses". Proc. Natl. Acad. Sci. U.S.A. 93 (22): 12142–9. Bibcode:1996PNAS...9312142V. doi:10.1073/pnas.93.22.12142. PMC 37957. PMID 8901547.12142-9&rft.date=1996&rft_id=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC37957#id-name=PMC&rft_id=info:pmid/8901547&rft_id=info:doi/10.1073/pnas.93.22.12142&rft_id=info:bibcode/1996PNAS...9312142V&rft.au=Varshavsky A&rft_id=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC37957&rfr_id=info:sid/en.wikipedia.org:UBR1" class="Z3988">
Chiannilkulchai N, Pasturaud P, Richard I, et al. (1995). "A primary expression map of the chromosome 15q15 region containing the recessive form of limb-girdle muscular dystrophy (LGMD2A) gene". Hum. Mol. Genet. 4 (4): 717–25. doi:10.1093/hmg/4.4.717. PMID 7633422.717-25&rft.date=1995&rft_id=info:doi/10.1093/hmg/4.4.717&rft_id=info:pmid/7633422&rft.aulast=Chiannilkulchai&rft.aufirst=N&rft.au=Pasturaud, P&rft.au=Richard, I&rfr_id=info:sid/en.wikipedia.org:UBR1" class="Z3988">
Dgany O, Avidan N, Delaunay J, et al. (2003). "Congenital Dyserythropoietic Anemia Type I Is Caused by Mutations in Codanin-1". Am. J. Hum. Genet. 71 (6): 1467–74. doi:10.1086/344781. PMC 378595. PMID 12434312.1467-74&rft.date=2003&rft_id=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC378595#id-name=PMC&rft_id=info:pmid/12434312&rft_id=info:doi/10.1086/344781&rft.aulast=Dgany&rft.aufirst=O&rft.au=Avidan, N&rft.au=Delaunay, J&rft_id=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC378595&rfr_id=info:sid/en.wikipedia.org:UBR1" class="Z3988">
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. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.16899-903&rft.date=2003&rft_id=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC139241#id-name=PMC&rft_id=info:pmid/12477932&rft_id=info:doi/10.1073/pnas.242603899&rft_id=info:bibcode/2002PNAS...9916899M&rft.aulast=Strausberg&rft.aufirst=RL&rft.au=Feingold, EA&rft.au=Grouse, LH&rft_id=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC139241&rfr_id=info:sid/en.wikipedia.org:UBR1" class="Z3988">
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.40-5&rft.date=2004&rft_id=info:doi/10.1038/ng1285&rft_id=info:pmid/14702039&rft.aulast=Ota&rft.aufirst=T&rft.au=Suzuki, Y&rft.au=Nishikawa, T&rft_id=https://doi.org/10.1038%2Fng1285&rfr_id=info:sid/en.wikipedia.org:UBR1" class="Z3988">
Beausoleil SA, Jedrychowski M, Schwartz D, et al. (2004). "Large-scale characterization of HeLa cell nuclear phosphoproteins". Proc. Natl. Acad. Sci. U.S.A. 101 (33): 12130–5. Bibcode:2004PNAS..10112130B. doi:10.1073/pnas.0404720101. PMC 514446. PMID 15302935.12130-5&rft.date=2004&rft_id=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC514446#id-name=PMC&rft_id=info:pmid/15302935&rft_id=info:doi/10.1073/pnas.0404720101&rft_id=info:bibcode/2004PNAS..10112130B&rft.aulast=Beausoleil&rft.aufirst=SA&rft.au=Jedrychowski, M&rft.au=Schwartz, D&rft_id=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC514446&rfr_id=info:sid/en.wikipedia.org:UBR1" class="Z3988">
Yin J, Kwon YT, Varshavsky A, Wang W (2005). "RECQL4, mutated in the Rothmund-Thomson and RAPADILINO syndromes, interacts with ubiquitin ligases UBR1 and UBR2 of the N-end rule pathway". Hum. Mol. Genet. 13 (20): 2421–30. doi:10.1093/hmg/ddh269. PMID 15317757.2421-30&rft.date=2005&rft_id=info:doi/10.1093/hmg/ddh269&rft_id=info:pmid/15317757&rft.aulast=Yin&rft.aufirst=J&rft.au=Kwon, YT&rft.au=Varshavsky, A&rft.au=Wang, W&rft_id=https://doi.org/10.1093%2Fhmg%2Fddh269&rfr_id=info:sid/en.wikipedia.org:UBR1" class="Z3988">
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. PMC 528928. PMID 15489334.2121-7&rft.date=2004&rft_id=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC528928#id-name=PMC&rft_id=info:pmid/15489334&rft_id=info:doi/10.1101/gr.2596504&rft.aulast=Gerhard&rft.aufirst=DS&rft.au=Wagner, L&rft.au=Feingold, EA&rft_id=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC528928&rfr_id=info:sid/en.wikipedia.org:UBR1" class="Z3988">
Kwak KS, Zhou X, Solomon V, et al. (2005). "Regulation of protein catabolism by muscle-specific and cytokine-inducible ubiquitin ligase E3alpha-II during cancer cachexia". Cancer Res. 64 (22): 8193–8. doi:10.1158/0008-5472.CAN-04-2102. PMID 15548684. S2CID 20424565.8193-8&rft.date=2005&rft_id=https://api.semanticscholar.org/CorpusID:20424565#id-name=S2CID&rft_id=info:pmid/15548684&rft_id=info:doi/10.1158/0008-5472.CAN-04-2102&rft.aulast=Kwak&rft.aufirst=KS&rft.au=Zhou, X&rft.au=Solomon, V&rfr_id=info:sid/en.wikipedia.org:UBR1" class="Z3988">
Tasaki T, Mulder LC, Iwamatsu A, et al. (2005). "A Family of Mammalian E3 Ubiquitin Ligases That Contain the UBR Box Motif and Recognize N-Degrons". Mol. Cell. Biol. 25 (16): 7120–36. doi:10.1128/MCB.25.16.7120-7136.2005. PMC 1190250. PMID 16055722.7120-36&rft.date=2005&rft_id=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1190250#id-name=PMC&rft_id=info:pmid/16055722&rft_id=info:doi/10.1128/MCB.25.16.7120-7136.2005&rft.aulast=Tasaki&rft.aufirst=T&rft.au=Mulder, LC&rft.au=Iwamatsu, A&rft_id=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1190250&rfr_id=info:sid/en.wikipedia.org:UBR1" class="Z3988">
Stelzl U, Worm U, Lalowski M, et al. (2005). "A human protein-protein interaction network: a resource for annotating the proteome". Cell. 122 (6): 957–68. doi:10.1016/j.cell.2005.08.029. hdl:11858/00-001M-0000-0010-8592-0. PMID 16169070. S2CID 8235923.957-68&rft.date=2005&rft_id=info:hdl/11858/00-001M-0000-0010-8592-0&rft_id=https://api.semanticscholar.org/CorpusID:8235923#id-name=S2CID&rft_id=info:pmid/16169070&rft_id=info:doi/10.1016/j.cell.2005.08.029&rft.aulast=Stelzl&rft.aufirst=U&rft.au=Worm, U&rft.au=Lalowski, M&rfr_id=info:sid/en.wikipedia.org:UBR1" class="Z3988">
Zenker M, Mayerle J, Lerch MM, et al. (2006). "Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome)" (PDF). Nat. Genet. 37 (12): 1345–50. doi:10.1038/ng1681. PMID 16311597. S2CID 23050042.1345-50&rft.date=2006&rft_id=https://api.semanticscholar.org/CorpusID:23050042#id-name=S2CID&rft_id=info:pmid/16311597&rft_id=info:doi/10.1038/ng1681&rft.aulast=Zenker&rft.aufirst=M&rft.au=Mayerle, J&rft.au=Lerch, MM&rft_id=https://authors.library.caltech.edu/55908/2/Fig1.pdf&rfr_id=info:sid/en.wikipedia.org:UBR1" class="Z3988">
Sasaki T, Kojima H, Kishimoto R, et al. (2006). "Spatiotemporal regulation of c-Fos by ERK5 and the E3 ubiquitin ligase UBR1, and its biological role". Mol. Cell. 24 (1): 63–75. doi:10.1016/j.molcel.2006.08.005. PMID 17018293.63-75&rft.date=2006&rft_id=info:doi/10.1016/j.molcel.2006.08.005&rft_id=info:pmid/17018293&rft.aulast=Sasaki&rft.aufirst=T&rft.au=Kojima, H&rft.au=Kishimoto, R&rft_id=https://doi.org/10.1016%2Fj.molcel.2006.08.005&rfr_id=info:sid/en.wikipedia.org:UBR1" class="Z3988">
Zou W, Wang J, Zhang DE (2007). "Negative Regulation of ISG15 E3 ligase EFP through its autoISGylation". Biochem. Biophys. Res. Commun. 354 (1): 321–7. doi:10.1016/j.bbrc.2006.12.210. PMC 1858649. PMID 17222803.321-7&rft.date=2007&rft_id=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1858649#id-name=PMC&rft_id=info:pmid/17222803&rft_id=info:doi/10.1016/j.bbrc.2006.12.210&rft.aulast=Zou&rft.aufirst=W&rft.au=Wang, J&rft.au=Zhang, DE&rft_id=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1858649&rfr_id=info:sid/en.wikipedia.org:UBR1" class="Z3988">
Sakane A, Hatakeyama S, Sasaki T (2007). "Involvement of Rabring7 in EGF receptor degradation as an E3 ligase". Biochem. Biophys. Res. Commun. 357 (4): 1058–64. doi:10.1016/j.bbrc.2007.04.052. PMID 17462600.1058-64&rft.date=2007&rft_id=info:doi/10.1016/j.bbrc.2007.04.052&rft_id=info:pmid/17462600&rft.aulast=Sakane&rft.aufirst=A&rft.au=Hatakeyama, S&rft.au=Sasaki, T&rfr_id=info:sid/en.wikipedia.org:UBR1" class="Z3988">
Wei S, Lin LF, Yang CC, et al. (2007). "Thiazolidinediones modulate the expression of beta-catenin and other cell-cycle regulatory proteins by targeting the F-box proteins of Skp1-Cul1-F-box protein E3 ubiquitin ligase independently of peroxisome proliferator-activated receptor gamma" (PDF). Mol. Pharmacol. 72 (3): 725–33. doi:10.1124/mol.107.035287. PMID 17569795. S2CID 38439682.725-33&rft.date=2007&rft_id=https://api.semanticscholar.org/CorpusID:38439682#id-name=S2CID&rft_id=info:pmid/17569795&rft_id=info:doi/10.1124/mol.107.035287&rft.aulast=Wei&rft.aufirst=S&rft.au=Lin, LF&rft.au=Yang, CC&rft_id=http://ntur.lib.ntu.edu.tw/bitstream/246246/163063/1/23.pdf&rfr_id=info:sid/en.wikipedia.org:UBR1" class="Z3988">

This article on a gene on human chromosome 15 is a stub. You can help Wikipedia by expanding it.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000186359 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000027272 – 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.

[pmid9653112-5] Kwon YT, Reiss Y, Fried VA, Hershko A, Yoon JK, Gonda DK, Sangan P, Copeland NG, Jenkins NA, Varshavsky A (Aug 1998). "The mouse and human genes encoding the recognition component of the N-end rule pathway". Proc Natl Acad Sci U S A. 95 (14): 7898–903. Bibcode:1998PNAS...95.7898K. doi:10.1073/pnas.95.14.7898. PMC 20901. PMID 9653112.7898-903&rft.date=1998-08&rft_id=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC20901#id-name=PMC&rft_id=info:pmid/9653112&rft_id=info:doi/10.1073/pnas.95.14.7898&rft_id=info:bibcode/1998PNAS...95.7898K&rft.aulast=Kwon&rft.aufirst=YT&rft.au=Reiss, Y&rft.au=Fried, VA&rft.au=Hershko, A&rft.au=Yoon, JK&rft.au=Gonda, DK&rft.au=Sangan, P&rft.au=Copeland, NG&rft.au=Jenkins, NA&rft.au=Varshavsky, A&rft_id=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC20901&rfr_id=info:sid/en.wikipedia.org:UBR1" class="Z3988">

[entrez-6] "Entrez Gene: UBR1 ubiquitin protein ligase E3 component n-recognin 1".

[5]

[6]

[1]

[2]

[3]

[4]

UBR1

References

Further reading