Identification and characterization of novel uroporphyrinogen decarboxylase gene mutations in a large series of porphyria cutanea tarda patients and relatives

Badenas, C.; To-Figueras, J.; Phillips, J.D.; Warby, C.A.; Munoz, C.; Herrero, C.; Clin. Genet. 75, 346-353 (2009)

show all sequences of 4.1.1.37

Data extracted from this reference:

Cloned(Commentary)
Commentary Organism
expression in Escherichia coli Homo sapiens
Engineering
Amino acid exchange Commentary Organism
A22V soluble but reduced catalytic activity Homo sapiens
D79N misfolded protein that is trafficked to inclusion bodies Homo sapiens
F84I soluble but reduced catalytic activity Homo sapiens
M1I the absence of an initial methionine codon within the messenger RNA (mRNA) Kozac consensus sequence is predicted to lead to a loss of translation from the mutant allele Homo sapiens
additional information 5del10, this may yield a truncated protein of 115 amino acids or nonsense-mediated mRNA decay Homo sapiens
P150L misfolded protein that is trafficked to inclusion bodies Homo sapiens
Q116X this may yield a truncated protein of 115 amino acids or nonsense-mediated mRNA decay Homo sapiens
T141I soluble but reduced catalytic activity Homo sapiens
Y182C soluble but reduced catalytic activity Homo sapiens
Molecular Weight [Da]
Molecular Weight [Da] Molecular Weight Maximum [Da] Commentary Organism
42000
-
SDS-PAGE Homo sapiens
Natural Substrates/ Products (Substrates)
Natural Substrates Organism Commentary (Nat. Sub.) Natural Products Commentary (Nat. Pro.) Organism (Nat. Pro.) Reversibility
uroporphyrinogen-III Homo sapiens
-
coproporphyrinogen-III + 4CO2
-
-
?
Organism
Organism Primary Accession No. (UniProt) Commentary Textmining
Homo sapiens P06132
-
-
Purification (Commentary)
Commentary Organism
Ni-NTA column Homo sapiens
Source Tissue
Source Tissue Commentary Organism Textmining
erythrocyte
-
Homo sapiens
-
Specific Activity [micromol/min/mg]
Specific Activity Minimum [µmol/min/mg] Specific Activity Maximum [µmol/min/mg] Commentary Organism
additional information
-
recombinant mutant A22V substrate uroporphyrinogen-I, 62.6% of recombinant wild-type activity; recombinant mutant A22V substrate uroporphyrinogen-III, 73.2% of recombinant wild-type activity; recombinant mutant F84I substrate uroporphyrinogen-I, 1.7% of recombinant wild-type activity; recombinant mutant F84I substrate uroporphyrinogen-III, 2.3% of recombinant wild-type activity; recombinant mutant T141I substrate uroporphyrinogen-I, 21.3% of recombinant wild-type activity; recombinant mutant T141I substrate uroporphyrinogen-III, 26.7% of recombinant wild-type activity; recombinant mutant Y182C substrate uroporphyrinogen-I, 40.0% of recombinant wild-type activity; recombinant mutant Y182C substrate uroporphyrinogen-III, 65.2% of recombinant wild-type activity Homo sapiens
Substrates and Products (Substrate)
Substrates Commentary Substrates Literature (Substrates) Organism Products Commentary (Products) Literature (Products) Organism (Products) Reversibility
pentacarboxylic porphyrinogen I
-
703279 Homo sapiens coproporphyrinogen-I + 4CO2
-
-
-
?
uroporphyrinogen-I
-
703279 Homo sapiens coproporphyrinogen-I + 4CO2
-
-
-
?
uroporphyrinogen-III
-
703279 Homo sapiens coproporphyrinogen-III + 4CO2
-
-
-
?
Cloned(Commentary) (protein specific)
Commentary Organism
expression in Escherichia coli Homo sapiens
Engineering (protein specific)
Amino acid exchange Commentary Organism
A22V soluble but reduced catalytic activity Homo sapiens
D79N misfolded protein that is trafficked to inclusion bodies Homo sapiens
F84I soluble but reduced catalytic activity Homo sapiens
M1I the absence of an initial methionine codon within the messenger RNA (mRNA) Kozac consensus sequence is predicted to lead to a loss of translation from the mutant allele Homo sapiens
additional information 5del10, this may yield a truncated protein of 115 amino acids or nonsense-mediated mRNA decay Homo sapiens
P150L misfolded protein that is trafficked to inclusion bodies Homo sapiens
Q116X this may yield a truncated protein of 115 amino acids or nonsense-mediated mRNA decay Homo sapiens
T141I soluble but reduced catalytic activity Homo sapiens
Y182C soluble but reduced catalytic activity Homo sapiens
Molecular Weight [Da] (protein specific)
Molecular Weight [Da] Molecular Weight Maximum [Da] Commentary Organism
42000
-
SDS-PAGE Homo sapiens
Natural Substrates/ Products (Substrates) (protein specific)
Natural Substrates Organism Commentary (Nat. Sub.) Natural Products Commentary (Nat. Pro.) Organism (Nat. Pro.) Reversibility
uroporphyrinogen-III Homo sapiens
-
coproporphyrinogen-III + 4CO2
-
-
?
Purification (Commentary) (protein specific)
Commentary Organism
Ni-NTA column Homo sapiens
Source Tissue (protein specific)
Source Tissue Commentary Organism Textmining
erythrocyte
-
Homo sapiens
-
Specific Activity [micromol/min/mg] (protein specific)
Specific Activity Minimum [µmol/min/mg] Specific Activity Maximum [µmol/min/mg] Commentary Organism
additional information
-
recombinant mutant A22V substrate uroporphyrinogen-I, 62.6% of recombinant wild-type activity; recombinant mutant A22V substrate uroporphyrinogen-III, 73.2% of recombinant wild-type activity; recombinant mutant F84I substrate uroporphyrinogen-I, 1.7% of recombinant wild-type activity; recombinant mutant F84I substrate uroporphyrinogen-III, 2.3% of recombinant wild-type activity; recombinant mutant T141I substrate uroporphyrinogen-I, 21.3% of recombinant wild-type activity; recombinant mutant T141I substrate uroporphyrinogen-III, 26.7% of recombinant wild-type activity; recombinant mutant Y182C substrate uroporphyrinogen-I, 40.0% of recombinant wild-type activity; recombinant mutant Y182C substrate uroporphyrinogen-III, 65.2% of recombinant wild-type activity Homo sapiens
Substrates and Products (Substrate) (protein specific)
Substrates Commentary Substrates Literature (Substrates) Organism Products Commentary (Products) Literature (Products) Organism (Products) Reversibility
pentacarboxylic porphyrinogen I
-
703279 Homo sapiens coproporphyrinogen-I + 4CO2
-
-
-
?
uroporphyrinogen-I
-
703279 Homo sapiens coproporphyrinogen-I + 4CO2
-
-
-
?
uroporphyrinogen-III
-
703279 Homo sapiens coproporphyrinogen-III + 4CO2
-
-
-
?


See also following references to EC number 4.1.1.37 (sorted by year of publication):
No.1st authorPub
Med
titleorganimsjournalvolumepagesyearActivating CompoundApplicationCloned(Commentary)Crystallization (Commentary)EngineeringGeneral StabilityInhibitorsKM Value [mM]LocalizationMetals/IonsMolecular Weight [Da]Natural Substrates/ Products (Substrates)Organic Solvent StabilityOrganismOxidation StabilityPosttranslational ModificationPurification (Commentary)ReactionRenatured (Commentary)Source TissueSpecific Activity [micromol/min/mg]Storage StabilitySubstrates and Products (Substrate)SubunitsTemperature Optimum [°C]Temperature Range [°C]Temperature Stability [°C]Turnover Number [1/s]pH OptimumpH RangepH StabilityCofactorKi Value [mM]pI ValueIC50 ValueActivating Compound (protein specific)Application (protein specific)Cloned(Commentary) (protein specific)Cofactor (protein specific)Crystallization (Commentary) (protein specific)Engineering (protein specific)General Stability (protein specific)IC50 Value (protein specific)Inhibitors (protein specific)Ki Value [mM] (protein specific)KM Value [mM] (protein specific)Localization (protein specific)Metals/Ions (protein specific)Molecular Weight [Da] (protein specific)Natural Substrates/ Products (Substrates) (protein specific)Organic Solvent Stability (protein specific)Oxidation Stability (protein specific)Posttranslational Modification (protein specific)Purification (Commentary) (protein specific)Renatured (Commentary) (protein specific)Source Tissue (protein specific)Specific Activity [micromol/min/mg] (protein specific)Storage Stability (protein specific)Substrates and Products (Substrate) (protein specific)Subunits (protein specific)Temperature Optimum [°C] (protein specific)Temperature Range [°C] (protein specific)Temperature Stability [°C] (protein specific)Turnover Number [1/s] (protein specific)pH Optimum (protein specific)pH Range (protein specific)pH Stability (protein specific)pI Value (protein specific)ExpressionGeneral InformationGeneral Information (protein specific)Expression (protein specific)KCat/KM [mM/s]KCat/KM [mM/s] (protein specific)
714636To-FiguerasHepatoerythropoietic porphyria ...Homo sapiensBr. J. Dermatol.165499-5052011--1-2--------4--1--1--2--------------1--2------------1-1--2----------11---
715739BushnellThe first branching point in p ...Homo sapiensJ. Comput. Chem.32822-8342011-------------3--------11----------------------------------11--------------
716915ItoUroporphyrinogen decarboxylase ...Homo sapiensSci. Transl. Med.367ra72011-1-----------4-----1----------------1------------------1------------1221--
706767RyaliBullous skin lesions in a pati ...Homo sapiensSemin. Dial.2383-872010-1-----------4----------------------1-------------------------------------
691975CribierPorphyria cutanea tarda, hepat ...Homo sapiensDermatology21815-212009-1-----------4-----1--1-------------1------------------1--1---------------
701665BergoniaReduction of porphyrins to por ...Homo sapiensAnal. Biochem.38474-782009-----------1-1--------2--------------------------1--------2---------------
703118WarbyStructural and kinetic charact ...Homo sapiensCell. Mol. Biol. (Noisy-le-grand)5540-452009--113--6---1-3--1--21-2----6---------1-13----6---1---1-21-2----6----------
703269AarsandFamilial and sporadic porphyri ...Homo sapiensClin. Chem.55795-8032009-1-----------2-----1----------------1------------------1------------------
703279BadenasIdentification and characteriz ...Homo sapiensClin. Genet.75346-3532009--1-9-----11-3--1--11-3--------------1--9-------11---1-11-3---------------
705145PhillipsSubstrate shuttling between ac ...Homo sapiensJ. Mol. Biol.389306-3142009--113-----31-2--1-----21-------------1-13-------31---1----21--------------
684418WangDirect assay of enzymes in hem ...Homo sapiensAnal. Chem.802599-26052008--------1----3-----1--4-----------------------1--------1--4---------------
691372SaitoInteraction of the molecular c ...Synechococcus elongatusBiosci. Biotechnol. Biochem.721394-13972008--1---1---1--5--1-----11--1----------1-----1----1----1----11--1-----------
691874RemenyikChildhood-onset mild cutaneous ...Homo sapiensClin. Exp. Dermatol.33602-6052008----1--------3-----1--1-----------------1--------------1--1---------------
692689NagarajLocalisation of Plasmodium fal ...Homo sapiens, Plasmodium falciparumInt. J. Parasitol.39559-56820082-1-41132-2--6--2--1-1421---1----1-2-1--41-1-32-2----2-1-1421---1--1------
694882LewisUroporphyrinogen decarboxylati ...Homo sapiensProc. Natl. Acad. Sci. USA10517328-173332008-------------4--------1-----------------------------------1---------------
679005JuarezStudies on uroporphyrinogen de ...Parachlorella kessleriCan. J. Microbiol.53303-3122007-------1--2--4--11---311--2-1----------------1--2----1---311--2-1---------
680488FanCrystal structure of uroporphy ...Bacillus subtilisJ. Bacteriol.1893573-35802007--11------3--4--1-----11-------------1-1--------3----1----11--------------
682571PhillipsA porphomethene inhibitor of u ...Homo sapiens, Mus musculusProc. Natl. Acad. Sci. USA1045079-50842007------2-2----6-----4--2--------------------2--2--------4--2---------------
682774CunhaHuman uroporphyrinogen III syn ...Homo sapiensProteins71855-8732007--1-------1--3--1---2-1------1-------1----------1----1--2-1------1--------
663631NezamzadehIdentification of a mutation i ...Ovis ariesAnim. Genet.36297-3022005-------------7------------------------------------------------------------
665446ChaufanAbnormal kinetic behavior of u ...Rattus norvegicusJ. Biochem. Mol. Toxicol.1919-242005-----------1-3--1--1--2--------------------------1---1-1--2---------------
666917ChristiansenExpression and characterizatio ...Homo sapiensScand. J. Clin. Lab. Invest.65227-2352005--1-4--4-----3--1-----1--------------1--4----4-------1----1---------------
654975JonesAn effective chromatographic s ...Gallus gallusBioorg. Med. Chem. Lett.145559-55642004-----------1-3--1--3--1--------------------------1---1-3--1---------------
664858Poblete-GutierrezThe molecular basis of porphyr ...Homo sapiensExp. Dermatol.13372-3792004-----------1-2--------1--------------------------1--------1---------------
650999PhillipsStructural basis for tetrapyrr ...Homo sapiensEMBO J.226225-62332003--114------1-1--1-----2--------------1-14--------1---1----2---------------
650797TavazziLevels of uroporphyrinogen dec ...Homo sapiensCell. Mol. Biol.4827-322002-1---------1-3-----1--2-------------1------------1-----1--2---------------
650890ChaufanComparison between crab hepato ...Neohelice granulata, Rattus norvegicusComp. Biochem. Physiol. B133251-2562002-2-----2--12-7--2--2--6-22--22------2--------2--12---2-2--6-22--22--------
649149MartinsTobacco uroporphyrinogen-III d ...Nicotiana tabacumActa Crystallogr. Sect. D571709-17112001--11----4-11-3--1-----21---------1---1-1------4-11---1----21-------1------
650726PhillipsFunctional consequences of nat ...Homo sapiensBlood983179-31852001-111-------1-2--1-----1--------1----1111---------1---1----1---------------
651526ChaufanHow does hexachlorobenzene tre ...Rattus norvegicusInt. J. Biochem. Cell Biol.33621-6302001------7--111-3--1--1--1--1--11-------------7---111---1-1--1--1--11--------
652198MartinsCrystal structure and substrat ...Nicotiana tabacumJ. Biol. Chem.27644108-441162001---1-------1-5--1-----21---------------1---------1---1----21--------------
390946MockExpression of uroporphyrinogen ...Nicotiana tabacumJ. Biol. Chem.2744231-42381999--1--------1-1--------2--------------1-----------1--------2---------------
649782Billi de CatabbiPorphyria-induced hepatic porp ...Rattus norvegicusBiochem. Mol. Biol. Int.47945-9561999-----12----1-3--------2------------------1-2-----1--------2---------------
651454ChristiansenScreening for mutations in the ...Homo sapiensHum. Mutat.14222-2321999-11-6------1-2--------2---1---------11--6--------1--------2---1-----------
4442Laterriere-Expression, purification, crys ...Homo sapiensActa Crystallogr. Sect. D54476-4781998--11---------1--1--------------------1-1-------------1--------------------
4440RobertsPurification and properties of ...Homo sapiensMethods Enzymol.281349-35519971-----941-11-21-1--21-51----3------1-------9-41-11-1-1-21-51----3---------
4447MylchreestStudies on the mechanism of ur ...Rattus norvegicusToxicol. Appl. Pharmacol.14523-331997-----------1-2--------1--------------------------1--------1---------------
4451PhillipsCharacterization and crystalli ...Homo sapiensProtein Sci.61343-13461997--11----1--1-4--------1--------------1-1------1--1--------1---------------
4439MockIsolation, sequencing and expr ...Hordeum vulgare, Nicotiana tabacumPlant Mol. Biol.28245-2561995--2----------7-----------------------2------------------------------------
4450ElderUroporphyrinogen decarboxylase ...Homo sapiensJ. Bioenerg. Biomembr.27207-2141995----------11-4--------21------------------------11--------21--------------
4445JonesPurification and properties of ...Rhodobacter sphaeroidesBiochem. J.293703-71219931----1172-11--3--1---1121--1-211----1-----1-17-2-11----1--1121--1-211-------
4441Green-ThompsonInhibition of chick embryo hep ...Gallus gallusCan. J. Physiol. Pharmacol.70939-9421992------1------2-----1-----------------------1-----------1------------------
4449MukerjiUroporphyrinogen decarboxylase ...Homo sapiensInt. J. Biochem.24105-1191992-------4--2--2--1--21121---------------------4--2----1-21121--------------
4448AfonsoFurther evidence on the photod ...Homo sapiensJ. Enzyme Inhib.5225-2331991------1------1-----1-----------------------1-----------1------------------
4443FelixPurification and properties of ...Saccharomyces cerevisiaeEur. J. Biochem.188393-4031990------63--1--3--1---11-1----1--------------6-3--1----1--11-1----1---------
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4444JuknatStudies on uroporphyrinogen de ...Euglena gracilisEur. J. Biochem.179423-42819891------2--1--3--1--1-12---2-2------1---------2--1----1-1-12---2-2---------
4436FrancisOxidation of uroporphyrinogens ...Mus musculusFEBS Lett.233311-3141988------1------3-----1-----------------------1-----------1------------------
4437RomanaRat uroporphyrinogen decarboxy ...Rattus norvegicusNucleic Acids Res.1572111987--1----------3-----------------------1------------------------------------
4438MukerjiEvidence for two uroporphyrino ...Homo sapiensBiochem. Biophys. Res. Commun.1461196-12031987-------2---1-2--1--2--51---------------------2---1---1-2--51--------------
4433MukerjiIn vitro studies of the mechan ...Rattus norvegicusArch. Biochem. Biophys.224619-6291986------45-----4-----2--5--------------------4-5---------2--5---------------
4434SekiUroporphyrinogen decarboxylase ...Gallus gallusMethods Enzymol.123415-4211986------13--11--2--1--22-1--------------------13---11----1-22-1---------------
4435Koopmann-Porphyrin biosynthesis in Rhod ...Rhodopseudomonas palustrisInt. J. Biochem.18935-9441986----------1--1--1---111---111-------------------1----1--111---111---------
4432MukerjiReduced substrate affinity for ...Homo sapiensBiochem. Biophys. Res. Commun.127517-5251985-------6---1-3-----2--3----------------------6---1-----2--3---------------
4429FrancisAssay of mouse liver uroporphy ...Mus musculusAnal. Biochem.138404-4101984-------------3-----3-----------------------------------3------------------
4430Elder-Human uroporphyrinogen decarbo ...Homo sapiensBiochem. Soc. Trans.12663-6641984-------------1-----2--1---1----------------------------2--1---1-----------
4431SinclairInhibition of uroporphyrinogen ...Gallus gallusBiochem. J.222737-7481984------3------2-----1-----------------------3-----------1------------------
4425De VerneuilPurification and properties of ...Homo sapiensJ. Biol. Chem.2582454-24601983------104--1--2--1--21-51----34-------------10-4--1----1-21-51----34--------
4426KawanishiUroporphyrinogen decarboxylase ...Gallus gallusJ. Biol. Chem.2584285-42921983------17---1--3-----21-21----11-1------1----17----1------21-21----11--------
4427StrakaPurification and characterizat ...Bos taurusBiochemistry224664-46721983------95-----3--1--21-8--------------------9-5-------1-21-8---------------
4428ElderPurification of uroporphyrinog ...Homo sapiensBiochem. J.21545-551983------1---1--2--1--31--1-------------------1----1----1-31--1--------------
4424SmithInvestigations of rat liver ur ...Rattus norvegicusBiochem. J.195241-2501981------1------2-----2--5--------------------1-----------2--5---------------
4420De VerneuilSome kinetic properties of hum ...Homo sapiensBiochim. Biophys. Acta611174-1861980------46-----3-----1--6--------------------4-6---------1--6---------------
4423Kardish-Measurement of heme biosynthet ...Rattus norvegicusJ. Appl. Biochem.2159-1671980------1----1-1-----5--3--------------------1-----1-----5--3---------------
4421BarnardStereochemical and mechanistic ...Gallus gallusJ. Chem. Soc. Perkin Trans. I19792354-23631979-----------1-1---1-1--1--------------------------1-----1--1---------------
4422SmithDecarboxylation of porphyrinog ...Rattus norvegicusBiochem. J.183455-4581979-------1-----3-----3--5----------------------1---------3--5---------------
4419GarciaPorphyrin biosynthesis. X-Porp ...Gallus gallusBiochim. Biophys. Acta309203-2101973-------2-----1-----1--3----------------------2---------1--3---------------
4418TomioPorphyrin biosynthesis. VII. P ...Gallus gallusBiochim. Biophys. Acta198353-36319702------------1--1--11-2---1-1------2-----------------1-11-2---1-1---------
4417MauzerallPorphyrin biosynthesis in eryt ...Oryctolagus cuniculusJ. Biol. Chem.2321141-11621958------6------1-----1--2-----11-------------6-----------1--2-----11--------