UBR1

From Wikipedia, the free encyclopedia

Ubiquitin protein ligase E3 component n-recognin 1

Identifiers

UBR1; JBS; MGC142065; MGC142067

External IDs

OMIM: 605981 MGI: 1277977 HomoloGene: 7582

Gene ontology
Molecular Function:	• ubiquitin-protein ligase activity • protein binding • zinc ion binding • ligase activity • metal ion binding
Cellular Component:	• ubiquitin ligase complex • proteasome complex (sensu Eukaryota)
Biological Process:	• ubiquitin-dependent protein catabolic process • ubiquitin cycle

Orthologs

Human

Mouse

Refseq

NM_174916 (mRNA)
NP_777576 (protein)

NM_009461 (mRNA)
NP_033487 (protein)

Location

Chr 15: 41.02 - 41.19 Mb

Chr 2: 120.55 - 120.66 Mb

Pubmed search

[1]

[2]

Ubiquitin protein ligase E3 component n-recognin 1, also known as UBR1, is a human gene.^[1]

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.^[1]

[edit] References

^ ^a ^b Entrez Gene: UBR1 ubiquitin protein ligase E3 component n-recognin 1.

[edit] Further reading

Varshavsky A (1996). "The N-end rule: functions, mysteries, uses.". Proc. Natl. Acad. Sci. U.S.A. 93 (22): 12142–9. 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. PMID 7633422.
Kwon YT, Reiss Y, Fried VA, et al. (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. PMID 9653112.
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. 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. doi:10.1073/pnas.242603899. 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. doi:10.1073/pnas.0404720101. 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. 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. 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. PMID 16169070.
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).". Nat. Genet. 37 (12): 1345–50. doi:10.1038/ng1681. PMID 16311597.
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. 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.". Mol. Pharmacol. 72 (3): 725–33. doi:10.1124/mol.107.035287. PMID 17569795.