Property Summary

NCBI Gene PubMed Count 29
Grant Count 68
R01 Count 53
Funding $6,507,774.41
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 0.000
glioblastoma 1.100 0.001
medulloblastoma, large-cell 1.200 0.000
juvenile dermatomyositis 1.235 0.000
ovarian cancer -2.200 0.000

Synonym

Accession Q8IWV7 O60708 O75492 Q14D45 Q68DN9 Q8IWY6 Q96JY4
Symbols JBS

Gene

PDB

3NY1  

 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.
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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.
More...