Property Summary

NCBI Gene PubMed Count 47
PubMed Score 838.17
PubTator Score 340.33

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (6)

Disease log2 FC p
Waldenstrons macroglobulinemia 1.163 4.5e-03
malignant mesothelioma -1.300 1.6e-05
osteosarcoma -3.146 1.1e-08
tuberculosis and treatment for 6 months 1.700 2.3e-05
ovarian cancer -1.800 3.4e-08
dermatomyositis 1.200 6.8e-04

Protein-protein Interaction (2)

Gene RIF (18)

PMID Text
26789143 a new mutation in the UROD gene in Egyptian patients with Hepatoerythropoietic porphyria, is reported.
24777812 a new insight in the conformational changes occurred in the mutant structures of UROD protein.
24551192 HIV-1 Vpu-expressing U937 monocytes coculture with LX2 stellate cells to upregulate expression of profibrogenic markers COL-1, PCT, SMA-1, VEGF, and MMP2, which is inhibited by MIF treatment
23545314 Among seventeen F-PCT patients, sixteen UROD mutations were identified.
23209648 analysis of uroporphyrinogen decarboxylase as a potential target for specific components of traditional Chinese medicine
23140436 Data suggest that the traditional Chinese medicine (TCM) candidate potential three-in-one inhibitors for three drug target proteins epidermal growth factor receptor (EGFR), Her2, and uroporphyrinogen decarboxylase (UROD) against head and neck cancer.
22382040 Mutations in UROD gene is associated with familial porphyria cutanea tarda.
21079081 Hepatoerythropoietic porphyria and familial porphyria cutanea tarda G281E mutation in the uroporphyrinogen decarboxylase gene
20553007 function of Arg37 in uroporphyrinogen III decarboxylase
20479301 description of 3 siblings with hepatoerythropoietic porphyria; sequencing of the UROD gene revealed compound heterozygosity for a novel missense mutation, V166A, and a complex deletion/insertion, 645del1053ins10
19656450 Expression of the D306Y mutation results in an insoluble recombinant protein. G318R and K297N have little effect on the structure or activity of recombinant URO-D, but the proteins display reduced stability in vitro.
19419417 role of UROD mutations as a strong risk factor for porphyria cutanea tarda even in areas where environmental factors (hepatitis C virus) have been shown to be highly associated with the disease
19419417 Observational study of gene-disease association. (HuGE Navigator)
17627795 Observational study of gene-disease association. (HuGE Navigator)
17627795 There is a high degree of molecular heterogeneity of familial porphyria cutanea tarda in Spain and molecular genetic analysis is useful in distinguish between F-PCT and sporadic PCT.
16390615 Sequencing of the hydroxymethylbilane synthase and uroporphyrinogen decarboxylase genes confirmed the relatively rare diagnosis of dual porphyria, and revealed a novel uroporphyrinogen decarboxylase mutation
15186324 we identified eight mutations in 18 previously unclassified porphyria cutanea tarda families
15046048 Sequence deletions in uroporphyrinogen decarboxylase is associated with Porphyria Cutanea Tarda.

AA Sequence

MEANGLGPQGFPELKNDTFLRAAWGEETDYTPVWCMRQAGRYLPEFRETRAAQDFFSTCRSPEACCELTL      1 - 70
QPLRRFPLDAAIIFSDILVVPQALGMEVTMVPGKGPSFPEPLREEQDLERLRDPEVVASELGYVFQAITL     71 - 140
TRQRLAGRVPLIGFAGAPWTLMTYMVEGGGSSTMAQAKRWLYQRPQASHQLLRILTDALVPYLVGQVVAG    141 - 210
AQALQLFESHAGHLGPQLFNKFALPYIRDVAKQVKARLREAGLAPVPMIIFAKDGHFALEELAQAGYEVV    211 - 280
GLDWTVAPKKARECVGKTVTLQGNLDPCALYASEEEIGQLVKQMLDDFGPHRYIANLGHGLYPDMDPEHV    281 - 350
GAFVDAVHKHSRLLRQN                                                         351 - 367
//

Text Mined References (54)

PMID Year Title
26789143 2015 Hepatoerythropoietic Porphyria Caused by a Novel Homoallelic Mutation in Uroporphyrinogen Decarboxylase Gene in Egyptian Patients.
25416956 2014 A proteome-scale map of the human interactome network.
24777812 2014 Computational identification of pathogenic associated nsSNPs and its structural impact in UROD gene: a molecular dynamics approach.
23545314 2013 Familial porphyria cutanea tarda in Spain: characterization of eight novel mutations in the UROD gene and haplotype analysis of the common p.G281E mutation.
23209648 2012 Uroporphyrinogen decarboxylase as a potential target for specific components of traditional Chinese medicine: a virtual screening and molecular dynamics study.
23140436 2013 A possible strategy against head and neck cancer: in silico investigation of three-in-one inhibitors.
22814378 2012 N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.
22382040 2012 Molecular analysis of the UROD gene in 17 Argentinean patients with familial porphyria cutanea tarda: characterization of four novel mutations.
22223895 2012 Comparative large scale characterization of plant versus mammal proteins reveals similar and idiosyncratic N-?-acetylation features.
21668429 2011 Hepatoerythropoietic porphyria due to a novel mutation in the uroporphyrinogen decarboxylase gene.
21269460 2011 Initial characterization of the human central proteome.
21079081 2010 Hepatoerythropoietic porphyria and familial porphyria cutanea tarda in Spanish patients: G281E mutation in the uroporphyrinogen decarboxylase gene.
20553007 2010 A tale of two acids: when arginine is a more appropriate acid than H3O+.
20479301 2010 Hepatoerythropoietic porphyria misdiagnosed as child abuse: cutaneous, arthritic, and hematologic manifestations in siblings with a novel UROD mutation.
19656450 2009 Structural and kinetic characterization of mutant human uroporphyrinogen decarboxylases.
19419417 2009 Identification and characterization of novel uroporphyrinogen decarboxylase gene mutations in a large series of porphyria cutanea tarda patients and relatives.
19413330 2009 Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
18004775 2008 Human uroporphyrinogen III synthase: NMR-based mapping of the active site.
17627795 2007 Molecular heterogeneity of familial porphyria cutanea tarda in Spain: characterization of 10 novel mutations in the UROD gene.
17240319 2007 Two novel uroporphyrinogen decarboxylase (URO-D) mutations causing hepatoerythropoietic porphyria (HEP).
16710414 2006 The DNA sequence and biological annotation of human chromosome 1.
16390615 2006 Dual porphyria with mutations in both the UROD and HMBS genes.
15491440 2004 Hepatoerythropoietic porphyria: a missense mutation in the UROD gene is associated with mild disease and an unusual porphyrin excretion pattern.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15186324 2004 The molecular basis of porphyria cutanea tarda in Chile: identification and functional characterization of mutations in the uroporphyrinogen decarboxylase gene.
15046048 2004 Human gene mutations. Gene symbol: UROD. Disease: Porphyria, cutanea tarda.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14633982 2003 Structural basis for tetrapyrrole coordination by uroporphyrinogen decarboxylase.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12071824 2002 Description of a new mutation in hepatoerythropoietic porphyria and prenatal exclusion of a homozygous fetus.
11719352 2001 Functional consequences of naturally occurring mutations in human uroporphyrinogen decarboxylase.
11295834 2001 Seven novel point mutations in the uroporphyrinogen decarboxylase (UROD) gene in patients with familial porphyria cutanea tarda (f-PCT).
11069625 2000 Co-inheritance of mutations in the uroporphyrinogen decarboxylase and hemochromatosis genes accelerates the onset of porphyria cutanea tarda.
10477430 1999 Screening for mutations in the uroporphyrinogen decarboxylase gene using denaturing gradient gel electrophoresis. Identification and characterization of six novel mutations associated with familial PCT.
10338097 1999 Three new mutations in the uroporphyrinogen decarboxylase gene in familial porphyria cutanea tarda. Mutation in brief no. 237. Online.
9806541 1998 A zebrafish model for hepatoerythropoietic porphyria.
9792863 1998 Familial porphyria cutanea tarda: characterization of seven novel uroporphyrinogen decarboxylase mutations and frequency of common hemochromatosis alleles.
9564029 1998 Crystal structure of human uroporphyrinogen decarboxylase.
9194196 1997 Characterization and crystallization of human uroporphyrinogen decarboxylase.
8896428 1996 Five new mutations in the uroporphyrinogen decarboxylase gene identified in families with cutaneous porphyria.
8644733 1996 Uroporphyrinogen decarboxylase: complete human gene sequence and molecular study of three families with hepatoerythropoietic porphyria.
8176248 1994 Molecular defects of uroporphyrinogen decarboxylase in a patient with mild hepatoerythropoietic porphyria.
8125298 1994 Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.
7706766 1995 A mutation (G281E) of the human uroporphyrinogen decarboxylase gene causes both hepatoerythropoietic porphyria and overt familial porphyria cutanea tarda: biochemical and genetic studies on Spanish patients.
3775362 1986 Uroporphyrinogen decarboxylase structural mutant (Gly281----Glu) in a case of porphyria.
3658695 1987 Structure of the gene for human uroporphyrinogen decarboxylase.
3460962 1986 Assignment of human uroporphyrinogen decarboxylase (URO-D) to the p34 band of chromosome 1.
3015909 1986 Molecular cloning and nucleotide sequence of a complete human uroporphyrinogen decarboxylase cDNA.
2920211 1989 A point mutation in the coding region of uroporphyrinogen decarboxylase associated with familial porphyria cutanea tarda.
2243121 1990 Uroporphyrinogen decarboxylase: a splice site mutation causes the deletion of exon 6 in multiple families with porphyria cutanea tarda.
1905636 1991 Identification of a new mutation responsible for hepatoerythropoietic porphyria.
1634232 1992 Characterization of a new mutation (R292G) and a deletion at the human uroporphyrinogen decarboxylase locus in two patients with hepatoerythropoietic porphyria.
661926 1978 Decreased activity of hepatic uroporphyrinogen decarboxylase in sporadic porphyria cutanea tarda.