Property Summary

NCBI Gene PubMed Count 36
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 7.0e-04
ependymoma -1.600 2.1e-02
osteosarcoma -2.939 4.0e-07
glioblastoma -1.400 6.2e-03
medulloblastoma -1.400 2.9e-05
medulloblastoma, large-cell -1.100 5.5e-03
adult high grade glioma -1.500 2.6e-05
subependymal giant cell astrocytoma 1.629 1.6e-02
ovarian cancer 1.700 3.3e-05

Protein-protein Interaction (5)

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.
16713569 2006 A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15304101 2004 Congenital erythropoietic porphyria: report of a novel mutation with absence of clinical manifestations in a homozygous mutant sibling.
15164054 2004 The DNA sequence and comparative analysis of human chromosome 10.
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.
12060141 2002 Congenital erythropoietic porphyria: identification and expression of eight novel mutations in the uroporphyrinogen III synthase gene.
11689424 2001 Crystal structure of human uroporphyrinogen III synthase.
11254675 2001 Uroporphyrinogen III synthase erythroid promoter mutations in adjacent GATA1 and CP2 elements cause congenital erythropoietic porphyria.
11121156 2000 Congenital erythropoietic porphyria: a novel homozygous mutation in a Japanese patient.
11112350 2000 Human uroporphyrinogen-III synthase: genomic organization, alternative promoters, and erythroid-specific expression.
9834209 1998 Congenital erythropoietic porphyria successfully treated by allogeneic bone marrow transplantation.
9803266 1998 C73R is a hotspot mutation in the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria.
9188670 1997 Novel point mutation in the uroporphyrinogen III synthase gene causes congenital erythropoietic porphyria of a Japanese family.
8829650 1996 Molecular basis of congenital erythropoietic porphyria: mutations in the human uroporphyrinogen III synthase gene.
8655129 1996 A novel point mutation in congenital erythropoietic porphyria in two members of Japanese family.
7860775 1995 Congenital erythropoietic porphyria: identification and expression of 10 mutations in the uroporphyrinogen III synthase gene.
7616657 1995 [Congenital erythropoietic porphyria].
7607680 1995 Uroporphyrinogen-III synthase: molecular cloning, nucleotide sequence, expression of a mouse full-length cDNA, and its localization on mouse chromosome 7.
3805019 1987 Purification and properties of uroporphyrinogen III synthase from human erythrocytes.
3792391 1986 A paediatric case of sideroblastic anaemia. Ultrastructural studies of erythroblasts cultured from marrow BFU-E in a methylcellulose micromethod.
3174619 1988 Human uroporphyrinogen III synthase: molecular cloning, nucleotide sequence, and expression of a full-length cDNA.
2331520 1990 Point mutations in the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria (Günther's disease).
2037278 1991 Regional assignment of the human uroporphyrinogen III synthase (UROS) gene to chromosome 10q25.2----q26.3.
1737856 1992 Congenital erythropoietic porphyria: identification and expression of exonic mutations in the uroporphyrinogen III synthase gene.
1733834 1992 Heterogeneity of mutations in the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria.