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GoPubMed Proteins lists recent and important papers and reviews for proteins. Page last changed on 19 Aug 2016.

UBR1 Ubr1p

UBR1, JBS, Ubr1p, E3alpha
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. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: Ubiquitin, CAN, UBR2, V1a, ACID
Papers using UBR1 antibodies
Toward the structural genomics of complexes: crystal structure of a PE/PPE protein complex from Mycobacterium tuberculosis.
Supplier
Kursula Inari, In PLoS ONE, 2005
... using a commercial kit (JBS Methylation Kit, from Jena Bioscience GmbH, Germany), following the ...
Papers on UBR1
Joubert syndrome: genotyping a Northern European patient cohort.
New
van Haaften et al., Utrecht, Netherlands. In Eur J Hum Genet, Feb 2016
Joubert syndrome (JBS) is a rare neurodevelopmental disorder belonging to the group of ciliary diseases.
Two novel UBR1 gene mutations ın a patient with Johanson Blizzard Syndrome: A mild phenotype without mental retardation.
New
Aydoğdu et al., İzmir, Turkey. In Gene, Nov 2015
Johanson-Blizzard Syndrome (JBS) (MIM #243800) is a rare autosomal recessive genetic disorder characterized by exocrine pancreatic insufficiency, abnormal facial appearance and varying degrees of mental retardation.
Implication of a Chromosome 15q15.2 Locus in Regulating UBR1 and Predisposing Smokers to MGMT Methylation in Lung.
New
Belinsky et al., Albuquerque, United States. In Cancer Res, Sep 2015
locus involved regulation of the ubiquitin protein ligase E3 component UBR1.
DNA Barcode-Based PCR-RFLP and Diagnostic PCR for Authentication of Jinqian Baihua She (Bungarus Parvus).
Chao et al., Guangzhou, China. In Evid Based Complement Alternat Med, 2014
We established polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and diagnostic PCR based on cytochrome C oxidase subunit I (COI) barcodes of Bungarus multicinctus, genuine Jinqian Baihua She (JBS), and adulterant snake species.
Cytochrome C oxidase subunit I barcodes provide an efficient tool for Jinqian Baihua She (Bungarus parvus) authentication.
Li et al., Guangzhou, China. In Pharmacogn Mag, 2014
Ten samples of commercially available crude drugs of JBS were identified using the identification engine provided by BOLD.
Johanson-Blizzard syndrome: expanding the phenotype of exocrine pancreatic insufficiency.
Erdman et al., Columbus, United States. In Jop, 2014
Nonsense, frame shift and splice-site mutations of the ubiquitin ligase gene (UBR1) lead to early loss of acinar cells in individuals with JBS.
Mutations in the human UBR1 gene and the associated phenotypic spectrum.
Review
Zenker et al., Magdeburg, Germany. In Hum Mutat, 2014
Mutation types include nonsense, frameshift, splice site, missense, and small in-frame deletions consistent with the hypothesis that loss of UBR1 protein function is the molecular basis of JBS.
Case report. Johanson-Blizzard syndrome: a report of gender-discordant twins with a novel UBR1 mutation.
Kim et al., Nanchong, China. In Genet Mol Res, 2013
Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive disorder resulting from loss-of-function mutations in the UBR1 gene.
A network of ubiquitin ligases is important for the dynamics of misfolded protein aggregates in yeast.
GeneRIF
Caplan et al., New York City, United States. In J Biol Chem, 2012
Data show that ubiquitin-protein ligases Ubr1 and Ubr2 have opposing roles in Ste11DeltaNK444R-GFP aggregation.
Recurrent Johanson-Blizzard syndrome in a triplet pregnancy complicated by urethral obstruction sequence: a clinical, molecular, and immunohistochemical approach.
GeneRIF
Rehder et al., Marburg an der Lahn, Germany. In Pediatr Dev Pathol, 2012
Testing the fetus and the affected sibling with recurrent Johanson-Blizzard syndrome revealed a homozygous truncating mutation in UBR1.
Eponym: Johanson-Blizzard syndrome.
Review
Zenker et al., Tehrān, Iran. In Eur J Pediatr, 2011
Johanson-Blizzard syndrome is a very rare autosomal recessive disorder caused by mutations in the Ubiquitin-Protein Ligase E3 Component N-Recognin 1 (UBR1) gene.
Ser(120) of Ubc2/Rad6 regulates ubiquitin-dependent N-end rule targeting by E3{alpha}/Ubr1.
GeneRIF
Haas et al., New Orleans, United States. In J Biol Chem, 2011
Ubc2/Rad6 ser(120) regulates ubiquitin-dependent N-end rule targeting by E3{alpha}/Ubr1
[Report of a case with Johanson-Blizzard syndrome and literatures review].
Review
Tang et al., Nanjing, China. In Zhonghua Er Ke Za Zhi, 2011
Serum biochemistry showed an exocrine and endocrine pancreatic insufficiency, CT scan of the abdomen demonstrated fatty replacement of the pancreas, UBR1 gene analysis showed heterozygous for two missense changes.
The N-end rule pathway is mediated by a complex of the RING-type Ubr1 and HECT-type Ufd4 ubiquitin ligases.
Impact
GeneRIF
Varshavsky et al., Pasadena, United States. In Nat Cell Biol, 2010
Study shows that the RING-type Ubr1 E3 and the HECT-type Ufd4 E3 interact, both physically and functionally.
Ubiquitin ligases of the N-end rule pathway: assessment of mutations in UBR1 that cause the Johanson-Blizzard syndrome.
GeneRIF
Zenker et al., Pasadena, United States. In Plos One, 2010
Results confirmed the relevance of specific missense UBR1 alleles to JBS, and suggested that a residual activity of a missense allele is causally associated with milder variants of JBS.
Genetic basis and pancreatic biology of Johanson-Blizzard syndrome.
Review
Lerch et al., Erlangen, Germany. In Endocrinol Metab Clin North Am, 2006
Positional cloning identified loss-of-function mutations in the UBRI gene on the long arm of chromosome 15 to be the cause of JBS in more than a dozen patients.
Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome).
Impact
GeneRIF
Reis et al., Erlangen, Germany. In Nat Genet, 2005
Deficiency of UBR1 perturbs the pancreas' acinar cells and other organs, presumably owing to metabolic stabilization of specific substrates of the N-end rule pathway.
Ubiquitin-protein ligases in muscle wasting.
Review
Lecker et al., Boston, United States. In Int J Biochem Cell Biol, 2005
Other experiments implicate E2(14k) and E3alpha, of the N-end rule pathway, as important players in the process.
Regulation of nuclear proteasome by Rhp6/Ubc2 through ubiquitination and destruction of the sensor and anchor Cut8.
Impact
Yanagida et al., Kyoto, Japan. In Cell, 2005
Here we show that the fission yeast ubiquitin-conjugating Rhp6/Ubc2/Rad6 and ligating enzymes Ubr1 are responsible for nuclear enrichment of proteasome through the function of Cut8, a nuclear envelope protein.
UFD4 lacking the proteasome-binding region catalyses ubiquitination but is impaired in proteolysis.
Impact
Varshavsky et al., Pasadena, United States. In Nat Cell Biol, 2002
We previously showed that UBR1 and UFD4, two E3 ligases of the yeast Saccharomyces cerevisiae, interact with specific proteasomal subunits.
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