(Redirected from
UBR1 (gene))
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| Aliases | UBR1, JBS, ubiquitin protein ligase E3 component n-recognin 1 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 605981; MGI: 1277977; HomoloGene: 7582; GeneCards: UBR1; OMA: UBR1 - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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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: ENSG00000159459 – 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.
- ^ a b "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. S2CID 20424565.
- 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.
 | This article on a gene on human chromosome 15 is a stub. You can help Wikipedia by expanding it. |
(Redirected from
UBR1 (gene))
| UBR1 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| 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 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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| Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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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: ENSG00000159459 – 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.
- ^ a b "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. S2CID 20424565.
- 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.
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| This article on a gene on human chromosome 15 is a stub. You can help Wikipedia by expanding it. |