Property Summary

NCBI Gene PubMed Count 36
Grant Count 23
R01 Count 8
Funding $2,343,126.5
PubMed Score 304.37
PubTator Score 128.82

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (9)

Disease log2 FC p
astrocytoma -1.700 0.001
ependymoma -1.600 0.021
osteosarcoma -2.939 0.000
glioblastoma -1.400 0.006
medulloblastoma -1.400 0.000
medulloblastoma, large-cell -1.100 0.005
adult high grade glioma -1.500 0.000
subependymal giant cell astrocytoma 1.629 0.016
ovarian cancer 1.700 0.000

Gene RIF (8)

PMID Text
22350154 A, T to C change at nucleotide 34313, leading to a substitution of Leucine by Proline at codon 237, was observed in the homozygous state in a family with congenital erythropoietic porphyria.
21570665 REVIEW: Structural, thermodynamic, and mechanistical studies in uroporphyrinogen III synthase and molecular basis of congenital erythropoietic porphyria
21343304 Intracellular rescue of the uroporphyrinogen III synthase activity in enzymes carrying the hotspot mutation C73R.
19965637 Data show that branchpoint sequence (BPS)mutation reduced the wild-type transcript and UROS enzyme activity in CEP lymphoblasts to approximately 10% and 15% of normal, respectively.
19099412 UROS mutations related to erythropoietic porphyria identify a key helix for protein stability.
19021769 The decrease in the expression of ubiquitous HMBS and UROS mRNAs under hypoxia is associated with accumulation of hypoxia-inducible factor 1alpha protein.
18004775 NMR analyses of URO-synthase titrated with competitive inhibitors N(D)-methyl-1-formylbilane or URO'gen III, revealed resonance perturbations of specific residues lining the cleft between 2 major domains of URO synthase that mapped enzyme's active site.
17298225 two novel misense mutations in the UROS gene.

AA Sequence

MKVLLLKDAKEDDCGQDPYIRELGLYGLEATLIPVLSFEFLSLPSFSEKLSHPEDYGGLIFTSPRAVEAA      1 - 70
ELCLEQNNKTEVWERSLKEKWNAKSVYVVGNATASLVSKIGLDTEGETCGNAEKLAEYICSRESSALPLL     71 - 140
FPCGNLKREILPKALKDKGIAMESITVYQTVAHPGIQGNLNSYYSQQGVPASITFFSPSGLTYSLKHIQE    141 - 210
LSGDNIDQIKFAAIGPTTARALAAQGLPVSCTAESPTPQALATGIRKALQPHGCC                   211 - 265
//

Text Mined References (36)

PMID Year Title
26871637 2016 Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
22350154 2012 Mutational analysis of uroporphyrinogen III cosynthase gene in Iranian families with congenital erythropoietic porphyria.
21653323 2011 ALAS2 acts as a modifier gene in patients with congenital erythropoietic porphyria.
21570665 2011 Structural, thermodynamic, and mechanistical studies in uroporphyrinogen III synthase: molecular basis of congenital erythropoietic porphyria.
21343304 2011 Intracellular rescue of the uroporphyrinogen III synthase activity in enzymes carrying the hotspot mutation C73R.
19965637 2010 Congenital erythropoietic porphyria: a novel uroporphyrinogen III synthase branchpoint mutation reveals underlying wild-type alternatively spliced transcripts.
19099412 2009 Uroporphyrinogen III synthase mutations related to congenital erythropoietic porphyria identify a key helix for protein stability.
19021769 2008 Hypoxia decreases the expression of the two enzymes responsible for producing linear and cyclic tetrapyrroles in the heme biosynthetic pathway.
18004775 2008 Human uroporphyrinogen III synthase: NMR-based mapping of the active site.
17298225 2006 Identification of mutations in the uroporphyrinogen III cosynthase gene in German patients with congenital erythropoietic porphyria.
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