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
Gene location (Human) Chr. Chromosome 15 (human) [1] Band 15q15.2 Start 42,942,897 bp [1] End 43,106,113 bp [1]
Gene location (Mouse) Chr. Chromosome 2 (mouse) [2] Band 2 E5|2 60.37 cM Start 120,690,750 bp [2] End 120,801,196 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in pancreatic epithelial cell germinal epithelium visceral pleura endothelial cell parietal pleura Brodmann area 23 thymus pancreatic ductal cell tibia deltoid muscle Top expressed in ascending aorta aortic valve supraoptic nucleus retinal pigment epithelium ciliary body pineal gland cumulus cell iris left lung lobe carotid body More reference expression data BioGPS 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 Species Human Mouse Entrez 197131 22222 Ensembl ENSG00000159459 ENSMUSG00000027272 UniProt Q8IWV7 O70481 RefSeq (mRNA) NM_174916 NM_009461 RefSeq (protein) NP_777576 NP_033487 Location (UCSC) Chr 15: 42.94 – 43.11 Mb Chr 2: 120.69 – 120.8 Mb PubMed search [3] [4]
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

1. GRCh38: Ensembl release 89: ENSG00000159459 - Ensembl, May 2017
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.
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.
6. "Entrez Gene: UBR1 ubiquitin protein ligase E3 component n-recognin 1".

Further reading

• 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.
• 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.
• 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.
• 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.
• 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.
• 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.
• 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.
• 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.
• 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.
• 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.
• 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.
• 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.
• 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.
• 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.
• 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.
• 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.