Property Summary

NCBI Gene PubMed Count 29
PubMed Score 87.43
PubTator Score 33.17

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (5)

Disease log2 FC p
atypical teratoid / rhabdoid tumor 1.100 1.0e-06
glioblastoma 1.100 1.5e-03
medulloblastoma, large-cell 1.200 5.4e-05
juvenile dermatomyositis 1.235 5.7e-10
ovarian cancer -2.200 1.0e-04

 GWAS Trait (1)

Gene RIF (17)

PMID Text
26183928 Reduced UBR1 expression affects MGMT turnover and DNA repair in the smokers lungs.
24599544 For all previously reported and novel UBR1 mutations together with their clinical data, a mutation database has been established at LOVD.
21931868 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.
21711208 Testing the fetus and the affected sibling with recurrent Johanson-Blizzard syndrome revealed a homozygous truncating mutation in UBR1.
21041297 Ubc2/Rad6 ser(120) regulates ubiquitin-dependent N-end rule targeting by E3{alpha}/Ubr1
20556423 Molecular studies revealed a novel homozygous nonsense mutation in exon 38 of the UBR1 gene, which confirmed the diagnosis of Johanson-Blizzard syndrome.
19058315 Case Report: Johanson-Blizzard syndrome with mild phenotypic features confirmed by UBR1 gene testing.
19006206 study reports on two apparently unrelated girls with Johanson-Blizzard syndrome, in both children caused by a homozygous IVS26+5G>A mutation in the UBR1 gene
18366806 Observational study of gene-disease association. (HuGE Navigator)
18089810 E3 ubiquitin ligase is an essential downstream component of the RAS signal transduction pathway.
17855541 The interaction of Vpr with DDB1 facilitates the formation of complexes containing Cul4A-Roc1 E3 ubiquitin ligase. The association of Vpr with DDB1-containing E3 ligase mediates the degradation of UNG2 and SMUG1
17569795 Thiazolidinediones modulate the expression of beta catenin and other cell cycle proteins by targeting UBR1 independently of PPARG.
17462600 These results suggest that Rabring7 is involved in the endocytic trafficking of EGFR through its E3 ligase activity.
17360488 The interaction of Vpr with DDB1 facilitates the formation of complexes containing Cul4A-Roc1 E3 ubiquitin ligase. The association of Vpr with DDB1-containing E3 ligase mediates the degradation of UNG2 and SMUG1
17222803 Thus we propose that autoISGylation of EFP negatively regulates its ISG15 E3 ligase activity for 14-3-3sigma.
17018293 Sustained ERK5 activity and the E3 ligase UBR1 regulate the stability and subcellular localization of c-Fos.
16311597 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.

AA Sequence

MADEEAGGTERMEISAELPQTPQRLASWWDQQVDFYTAFLHHLAQLVPEIYFAEMDPDLEKQEESVQMSI      1 - 70
FTPLEWYLFGEDPDICLEKLKHSGAFQLCGRVFKSGETTYSCRDCAIDPTCVLCMDCFQDSVHKNHRYKM     71 - 140
HTSTGGGFCDCGDTEAWKTGPFCVNHEPGRAGTIKENSRCPLNEEVIVQARKIFPSVIKYVVEMTIWEEE    141 - 210
KELPPELQIREKNERYYCVLFNDEHHSYDHVIYSLQRALDCELAEAQLHTTAIDKEGRRAVKAGAYAACQ    211 - 280
EAKEDIKSHSENVSQHPLHVEVLHSEIMAHQKFALRLGSWMNKIMSYSSDFRQIFCQACLREEPDSENPC    281 - 350
LISRLMLWDAKLYKGARKILHELIFSSFFMEMEYKKLFAMEFVKYYKQLQKEYISDDHDRSISITALSVQ    351 - 420
MFTVPTLARHLIEEQNVISVITETLLEVLPEYLDRNNKFNFQGYSQDKLGRVYAVICDLKYILISKPTIW    421 - 490
TERLRMQFLEGFRSFLKILTCMQGMEEIRRQVGQHIEVDPDWEAAIAIQMQLKNILLMFQEWCACDEELL    491 - 560
LVAYKECHKAVMRCSTSFISSSKTVVQSCGHSLETKSYRVSEDLVSIHLPLSRTLAGLHVRLSRLGAVSR    561 - 630
LHEFVSFEDFQVEVLVEYPLRCLVLVAQVVAEMWRRNGLSLISQVFYYQDVKCREEMYDKDIIMLQIGAS    631 - 700
LMDPNKFLLLVLQRYELAEAFNKTISTKDQDLIKQYNTLIEEMLQVLIYIVGERYVPGVGNVTKEEVTMR    701 - 770
EIIHLLCIEPMPHSAIAKNLPENENNETGLENVINKVATFKKPGVSGHGVYELKDESLKDFNMYFYHYSK    771 - 840
TQHSKAEHMQKKRRKQENKDEALPPPPPPEFCPAFSKVINLLNCDIMMYILRTVFERAIDTDSNLWTEGM    841 - 910
LQMAFHILALGLLEEKQQLQKAPEEEVTFDFYHKASRLGSSAMNIQMLLEKLKGIPQLEGQKDMITWILQ    911 - 980
MFDTVKRLREKSCLIVATTSGSESIKNDEITHDKEKAERKRKAEAARLHRQKIMAQMSALQKNFIETHKL    981 - 1050
MYDNTSEMPGKEDSIMEEESTPAVSDYSRIALGPKRGPSVTEKEVLTCILCQEEQEVKIENNAMVLSACV   1051 - 1120
QKSTALTQHRGKPIELSGEALDPLFMDPDLAYGTYTGSCGHVMHAVCWQKYFEAVQLSSQQRIHVDLFDL   1121 - 1190
ESGEYLCPLCKSLCNTVIPIIPLQPQKINSENADALAQLLTLARWIQTVLARISGYNIRHAKGENPIPIF   1191 - 1260
FNQGMGDSTLEFHSILSFGVESSIKYSNSIKEMVILFATTIYRIGLKVPPDERDPRVPMLTWSTCAFTIQ   1261 - 1330
AIENLLGDEGKPLFGALQNRQHNGLKALMQFAVAQRITCPQVLIQKHLVRLLSVVLPNIKSEDTPCLLSI   1331 - 1400
DLFHVLVGAVLAFPSLYWDDPVDLQPSSVSSSYNHLYLFHLITMAHMLQILLTVDTGLPLAQVQEDSEEA   1401 - 1470
HSASSFFAEISQYTSGSIGCDIPGWYLWVSLKNGITPYLRCAALFFHYLLGVTPPEELHTNSAEGEYSAL   1471 - 1540
CSYLSLPTNLFLLFQEYWDTVRPLLQRWCADPALLNCLKQKNTVVRYPRKRNSLIELPDDYSCLLNQASH   1541 - 1610
FRCPRSADDERKHPVLCLFCGAILCSQNICCQEIVNGEEVGACIFHALHCGAGVCIFLKIRECRVVLVEG   1611 - 1680
KARGCAYPAPYLDEYGETDPGLKRGNPLHLSRERYRKLHLVWQQHCIIEEIARSQETNQMLFGFNWQLL    1681 - 1749
//

Text Mined References (38)

PMID Year Title
26183928 2015 Implication of a Chromosome 15q15.2 Locus in Regulating UBR1 and Predisposing Smokers to MGMT Methylation in Lung.
26149651 2015 Two novel UBR1 gene mutations ?n a patient with Johanson Blizzard Syndrome: A mild phenotype without mental retardation.
24599544 2014 Mutations in the human UBR1 gene and the associated phenotypic spectrum.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22072859 2011 Johanson-Blizzard syndrome.
21931868 2011 Ubiquitin ligases of the N-end rule pathway: assessment of mutations in UBR1 that cause the Johanson-Blizzard syndrome.
21711208 Recurrent Johanson-Blizzard syndrome in a triplet pregnancy complicated by urethral obstruction sequence: a clinical, molecular, and immunohistochemical approach.
21041297 2010 Ser(120) of Ubc2/Rad6 regulates ubiquitin-dependent N-end rule targeting by E3{alpha}/Ubr1.
20835242 2010 Structural basis of substrate recognition and specificity in the N-end rule pathway.
20556423 2011 Novel UBR1 gene mutation in a patient with typical phenotype of Johanson-Blizzard syndrome.
20298436 2010 Role of N-end rule ubiquitin ligases UBR1 and UBR2 in regulating the leucine-mTOR signaling pathway.
19690332 2009 Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.
19369195 2009 Large-scale proteomics analysis of the human kinome.
19058315 2008 Johanson-Blizzard syndrome with mild phenotypic features confirmed by UBR1 gene testing.
19006206 2008 Johanson-Blizzard syndrome caused by identical UBR1 mutations in two unrelated girls, one with a cardiomyopathy.
18691976 2008 Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.
18366806 2008 Lack of association of genetic variation in chromosome region 15q14-22.1 with type 2 diabetes in a Japanese population.
18089810 2007 Inhibition of RAS-mediated transformation and tumorigenesis by targeting the downstream E3 ubiquitin ligase seven in absentia homologue.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
17569795 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.
17525332 2007 ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage.
17462600 2007 Involvement of Rabring7 in EGF receptor degradation as an E3 ligase.
17222803 2007 Negative regulation of ISG15 E3 ligase EFP through its autoISGylation.
17018293 2006 Spatiotemporal regulation of c-Fos by ERK5 and the E3 ubiquitin ligase UBR1, and its biological role.
16311597 2005 Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome).
16169070 2005 A human protein-protein interaction network: a resource for annotating the proteome.
16055722 2005 A family of mammalian E3 ubiquitin ligases that contain the UBR box motif and recognize N-degrons.
15548684 2004 Regulation of protein catabolism by muscle-specific and cytokine-inducible ubiquitin ligase E3alpha-II during cancer cachexia.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15317757 2004 RECQL4, mutated in the Rothmund-Thomson and RAPADILINO syndromes, interacts with ubiquitin ligases UBR1 and UBR2 of the N-end rule pathway.
15302935 2004 Large-scale characterization of HeLa cell nuclear phosphoproteins.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12434312 2002 Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1.
9653112 1998 The mouse and human genes encoding the recognition component of the N-end rule pathway.
8901547 1996 The N-end rule: functions, mysteries, uses.
7633422 1995 A primary expression map of the chromosome 15q15 region containing the recessive form of limb-girdle muscular dystrophy (LGMD2A) gene.