Property Summary

NCBI Gene PubMed Count 46
Grant Count 9
R01 Count 6
Funding $822,835.7
PubMed Score 18.76
PubTator Score 25.96

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (6)

Disease log2 FC p
malignant mesothelioma 1.500 0.000
adrenocortical carcinoma 1.260 0.001
lung cancer 1.600 0.000
Pick disease -1.100 0.001
progressive supranuclear palsy -1.200 0.008
dermatomyositis 1.400 0.000

Synonym

Accession Q9BZI7 D3DWI3 D3DWI4 Q0VAK8 Q9H1J0
Symbols MRX62
UPF3X
HUPF3B
MRXS14
RENT3B
UPF3BP1
UPF3BP2
UPF3BP3
Upf3p-X

Gene

PDB

2XB2   1UW4  

Gene RIF (22)

PMID Text
26358559 UPF3B gene mutation is associated with Lujan-Fryns syndrome.
26012578 the neurodevelopmental phenotype of UPF3B missense mutation is caused by impairment of nonsense-mediated mRNA decay pathway function altering neuronal differentiation.
23925499 These findings indicate that SATB2 activates UPF3B expression through binding to its promoter.
23305486 Tandem affinity purification and mass spectrometry analysis identify UPF3 regulator of nonsense transcripts homolog B (UPF3B), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells
23125841 Tandem affinity purification and mass spectrometry analysis identify UPF3 regulator of nonsense transcripts homolog B (UPF3B), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells
23125841 Tandem affinity purification and mass spectrometry analysis identify UPF3 regulator of nonsense transcripts homolog B (UPF3B), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells
23125841 Tandem affinity purification and mass spectrometry analysis identify UPF3 regulator of nonsense transcripts homolog B (UPF3B), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells
23125841 Tandem affinity purification and mass spectrometry analysis identify UPF3 regulator of nonsense transcripts homolog B (UPF3B), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells
22957832 Data indicate the mutation p.R430X of UPF3B gene as the genetic etiology in the mental retardation pedigree.
22609145 The two cases with renal dysplasia and developmental delay showed remarkable clinical variability despite having the same mutation in UPF3B.
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AA Sequence

MKEEKEHRPKEKRVTLLTPAGATGSGGGTSGDSSKGEDKQDRNKEKKEALSKVVIRRLPPTLTKEQLQEH      1 - 70
LQPMPEHDYFEFFSNDTSLYPHMYARAYINFKNQEDIILFRDRFDGYVFLDNKGQEYPAIVEFAPFQKAA     71 - 140
KKKTKKRDTKVGTIDDDPEYRKFLESYATDNEKMTSTPETLLEEIEAKNRELIAKKTTPLLSFLKNKQRM    141 - 210
REEKREERRRREIERKRQREEERRKWKEEEKRKRKDIEKLKKIDRIPERDKLKDEPKIKVHRFLLQAVNQ    211 - 280
KNLLKKPEKGDEKELDKREKAKKLDKENLSDERASGQSCTLPKRSDSELKDEKPKRPEDESGRDYRERER    281 - 350
EYERDQERILRERERLKRQEEERRRQKERYEKEKTFKRKEEEMKKEKDTLRDKGKKAESTESIGSSEKTE    351 - 420
KKEEVVKRDRIRNKDRPAMQLYQPGARSRNRLCPPDDSTKSGDSAAERKQESGISHRKEGGEE           421 - 483
//

Text Mined References (54)

PMID Year Title
26496610 2015 A human interactome in three quantitative dimensions organized by stoichiometries and abundances.
26358559 2016 Tentative clinical diagnosis of Lujan-Fryns syndrome--A conglomeration of different genetic entities?
26012578 2015 Full UPF3B function is critical for neuronal differentiation of neural stem cells.
24129315 2014 Immunoaffinity enrichment and mass spectrometry analysis of protein methylation.
23925499 2013 Disorders with similar clinical phenotypes reveal underlying genetic interaction: SATB2 acts as an activator of the UPF3B gene.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
23084401 2012 The cellular EJC interactome reveals higher-order mRNP structure and an EJC-SR protein nexus.
22957832 2013 Exome sequencing identifies UPF3B as the causative gene for a Chinese non-syndrome mental retardation pedigree.
22681889 2012 The mRNA-bound proteome and its global occupancy profile on protein-coding transcripts.
22658674 2012 Insights into RNA biology from an atlas of mammalian mRNA-binding proteins.
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