UBR1

Ubiquitin protein ligase E3 component n-recognin 1
Identificadores
Símbolos	UBR1; JBS; MGC142065; MGC142067
IDs externos	OMIM: 605981 MGI: 1277977 HomoloGene: 7582 GeneCards: UBR1 Gene
Ontologia do gene
Função molecular	•ubiquitin-protein ligase activity; •ligação a ião de zinco; •ligase activity; •ligação a ião metálico;
Componente celular	•ubiquitin ligase complex; •proteasome complex; •citoplasma; •citosol;
Processo biológico	•ubiquitin-dependent protein catabolic process; •protein catabolic process;
	Sources: Amigo / QuickGO
Ortólogos

O gene humano UBR1 codifica a enzima ubiquitin-protein ligase E3 component n-recognin 1.^[1]^[2]

A via da regra N-terminal é uma via proteolítica do sistema da ubiquitina. O componente de reconhecimento desta via, codificado por este gene, faz ligacao a um resíduo desestabilizado de uma proteina substrato e participa na formação de uma cadeia ligada ao substrato de multiubiquitina. Isto leva a eventual degradação da proteína substrato. A proteína descrita nesta ficha tem um dedo de zinco do tipo RING e um dedo de zinco do tipo UBR. Mutações neste gene têm sido associadas ao síndrome de Johanson-Blizzard.^[2]

Referências

↑ Kwon YT, Reiss Y, Fried VA, Hershko A, Yoon JK, Gonda DK, Sangan P, Copeland NG, Jenkins NA, Varshavsky A (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. PMC 20901. PMID 9653112. doi:10.1073/pnas.95.14.7898
↑ ^a ^b «Entrez Gene: UBR1 ubiquitin protein ligase E3 component n-recognin 1»

Leitura adicional

Varshavsky A (1996). «The N-end rule: functions, mysteries, uses». Proc. Natl. Acad. Sci. U.S.A. 93 (22): 12142–9. PMC 37957. PMID 8901547. doi:10.1073/pnas.93.22.12142
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. doi:10.1093/hmg/4.4.717
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. PMC 378595. PMID 12434312. doi:10.1086/344781
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. PMC 139241. PMID 12477932. doi:10.1073/pnas.242603899
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. PMID 14702039. doi:10.1038/ng1285
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. PMC 514446. PMID 15302935. doi:10.1073/pnas.0404720101
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. PMID 15317757. doi:10.1093/hmg/ddh269
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. PMC 528928. PMID 15489334. doi:10.1101/gr.2596504
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. PMID 15548684. doi:10.1158/0008-5472.CAN-04-2102
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. PMC 1190250. PMID 16055722. doi:10.1128/MCB.25.16.7120-7136.2005
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. PMID 16169070. doi:10.1016/j.cell.2005.08.029
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. PMID 16311597. doi:10.1038/ng1681
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. PMID 17018293. doi:10.1016/j.molcel.2006.08.005
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. PMC 1858649. PMID 17222803. doi:10.1016/j.bbrc.2006.12.210
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. PMID 17462600. doi:10.1016/j.bbrc.2007.04.052
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. PMID 17569795. doi:10.1124/mol.107.035287

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Predefinição:Ligases CO CS and CN Predefinição:Posttranslational modification

[pmid9653112-1] Kwon YT, Reiss Y, Fried VA, Hershko A, Yoon JK, Gonda DK, Sangan P, Copeland NG, Jenkins NA, Varshavsky A (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. PMC 20901. PMID 9653112. doi:10.1073/pnas.95.14.7898

[entrez-2] «Entrez Gene: UBR1 ubiquitin protein ligase E3 component n-recognin 1»

[1]

[2]