Property Summary

NCBI Gene PubMed Count 20
Grant Count 10
R01 Count 10
Funding $696,605.68
PubMed Score 45.84
PubTator Score 27.04

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (6)

Disease log2 FC p
nephrosclerosis -1.875 0.010
osteosarcoma -2.230 0.000
tuberculosis -2.100 0.000
group 3 medulloblastoma 1.100 0.037
ovarian cancer -1.200 0.000
psoriasis -2.700 0.000

Gene RIF (11)

PMID Text
25236466 The c.977G>A (p.R326Q) is the most common mutation of the UPB1 gene in Chinese. The predicted incidence indicates that beta-ureidopropionase deficiency is significantly underdiagnosed in the Chinese population.
24526388 High prevalence of p.R326Q in the normal Japanese population indicates that betaUP deficiency is not as rare as generally considered
24328561 This study reports the clinical, biochemical, and molecular analysis of a newly identified patient with beta-ureidopropionase deficiency and the effect of the first synonymous mutation in UBP1 affecting pre-mRNA splicing, using the minigene approach.
23238479 analysis of UPB1 variants on 5-FU-related toxicity in the population of all analyzed patients revealed an association between the c.-80C>G (rs2070474) variant and gastrointestinal toxicity
22525402 biochemical and molecular findings of 11 newly identified ss-ureidopropionase deficient patients as well as the analysis of the mutations in a three-dimensional framework were reported.
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
19913121 Observational study of gene-disease association. (HuGE Navigator)
18216719 Observational study of gene-disease association. (HuGE Navigator)
18075467 Observational study of gene-disease association. (HuGE Navigator)
17065070 analysis of the beta-ureidopropionase gene (UPB1) of the first 4 patients presenting with a complete enzyme deficiency, revealed the presence of 2 splice-site mutations (IVS1-2A>G and IVS8-1G>A) and one missense mutation (A85E)
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AA Sequence

MAGAEWKSLEECLEKHLPLPDLQEVKRVLYGKELRKLDLPREAFEAASREDFELQGYAFEAAEEQLRRPR      1 - 70
IVHVGLVQNRIPLPANAPVAEQVSALHRRIKAIVEVAAMCGVNIICFQEAWTMPFAFCTREKLPWTEFAE     71 - 140
SAEDGPTTRFCQKLAKNHDMVVVSPILERDSEHGDVLWNTAVVISNSGAVLGKTRKNHIPRVGDFNESTY    141 - 210
YMEGNLGHPVFQTQFGRIAVNICYGRHHPLNWLMYSINGAEIIFNPSATIGALSESLWPIEARNAAIANH    211 - 280
CFTCAINRVGTEHFPNEFTSGDGKKAHQDFGYFYGSSYVAAPDSSRTPGLSRSRDGLLVAKLDLNLCQQV    281 - 350
NDVWNFKMTGRYEMYARELAEAVKSNYSPTIVKE                                        351 - 384
//

Text Mined References (22)

PMID Year Title
25236466 2014 Genetic analysis of the UPB1 gene in two new Chinese families with ?-ureidopropionase deficiency and the carrier frequency of the mutation c.977G>A in Northern China.
24927181 2014 Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.
24526388 2014 Clinical, biochemical and molecular analysis of 13 Japanese patients with ?-ureidopropionase deficiency demonstrates high prevalence of the c.977G > A (p.R326Q) mutation [corrected].
24328561 2013 Identification of a novel synonymous mutation in the human ? -Ureidopropionase Gene UPB1 affecting pre-mRNA splicing.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
23238479 2012 Contribution of the ?-ureidopropionase (UPB1) gene alterations to the development of fluoropyrimidine-related toxicity.
22525402 2012 ß-ureidopropionase deficiency: phenotype, genotype and protein structural consequences in 16 patients.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
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