Characterization of the first described mutation of human red blood cell phosphoglycerate mutase

de Atauri, P.; Repiso, A.; Oliva, B.; Vives-Corrons, J.L.; Climent, F.; Carreras, J.; Biochim. Biophys. Acta 1740, 403-410 (2005)

 show all sequences of 5.4.2.1

Data extracted from this reference:

Application
Application Commentary Organism
medicine mutation M230I is identified in a patient with hereditary sperocytosis and 50% deficiency of enzyme activity in red blood cells. Enzyme shows abnormal behaviour on ion-exchange chromatography and is more thermo-labile than wild-type Homo sapiens
Engineering
Amino acid exchange Commentary Organism
M230I mutation identified in a patient with hereditary sperocytosis and 50% deficiency of enzyme activity in red blood cells. Enzyme shows abnormal behaviour on ion-exchange chromatography and is more thermo-labile than wild-type Homo sapiens
KM Value [mM]
KM Value [mM] KM Value Maximum [mM] Substrate Commentary Organism Structure
0.4
-
 3-phospho-D-glycerate pH 7.4, 30°C Homo sapiens
Organism
Organism Primary Accession No. (UniProt) Commentary Textmining
Homo sapiens
-
 patient with hereditary sperocytosis and 50% deficiency of enzyme activity in red blood cells
-
Reaction
Reaction Commentary Organism
2-Phospho-D-glycerate = 3-phospho-D-glycerate ping-pong or phosphoenzyme mechanism Homo sapiens
Source Tissue
Source Tissue Commentary Organism Textmining
erythrocyte hemoglobin-free hemolysate Homo sapiens
-
Substrates and Products (Substrate)
Substrates Commentary Substrates Literature (Substrates) Organism Products Commentary (Products) Literature (Products) Organism (Products) Reversibility
2-phospho-D-glycerate
-
 661261 Homo sapiens 3-phospho-D-glycerate
-
-
-
 r
3-phospho-D-glycerate
-
 661261 Homo sapiens 2-phospho-D-glycerate
-
-
-
 r
More enzyme possesses some 2,3-bisphosphoglycerate phosphatase activity 661261 Homo sapiens ?
-
-
-
-
Temperature Stability [°C]
Temperature Stability Minimum [°C] Temperature Stability Maximum [°C] Commentary Organism
45
-
 wild-type, 1 h, 10% loss of activity, mutant M230I, 20 min, 50% loss of activity, 1 h, 90% loss of activity. In presence of 2,3-bisphosphoglycerate, both forms remain stable Homo sapiens
Application (protein specific)
Application Commentary Organism
medicine mutation M230I is identified in a patient with hereditary sperocytosis and 50% deficiency of enzyme activity in red blood cells. Enzyme shows abnormal behaviour on ion-exchange chromatography and is more thermo-labile than wild-type Homo sapiens
Engineering (protein specific)
Amino acid exchange Commentary Organism
M230I mutation identified in a patient with hereditary sperocytosis and 50% deficiency of enzyme activity in red blood cells. Enzyme shows abnormal behaviour on ion-exchange chromatography and is more thermo-labile than wild-type Homo sapiens
KM Value [mM] (protein specific)
KM Value [mM] KM Value Maximum [mM] Substrate Commentary Organism Structure
0.4
-
 3-phospho-D-glycerate pH 7.4, 30°C Homo sapiens
Source Tissue (protein specific)
Source Tissue Commentary Organism Textmining
erythrocyte hemoglobin-free hemolysate Homo sapiens
-
Substrates and Products (Substrate) (protein specific)
Substrates Commentary Substrates Literature (Substrates) Organism Products Commentary (Products) Literature (Products) Organism (Products) Reversibility
2-phospho-D-glycerate
-
 661261 Homo sapiens 3-phospho-D-glycerate
-
-
-
 r
3-phospho-D-glycerate
-
 661261 Homo sapiens 2-phospho-D-glycerate
-
-
-
 r
More enzyme possesses some 2,3-bisphosphoglycerate phosphatase activity 661261 Homo sapiens ?
-
-
-
-
Temperature Stability [°C] (protein specific)
Temperature Stability Minimum [°C] Temperature Stability Maximum [°C] Commentary Organism
45
-
 wild-type, 1 h, 10% loss of activity, mutant M230I, 20 min, 50% loss of activity, 1 h, 90% loss of activity. In presence of 2,3-bisphosphoglycerate, both forms remain stable Homo sapiens

See also following references to EC number 5.4.2.1 (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)
716984LiIdentification and characteriz ...Dirofilaria immitis, Wolbachia sp.Vet. Parasitol.176350-3562011--2----2-----6--2---2-42---2---2-2---22------2-------2--2-42---2---2----22
705270KimuraHigh prevalence of autoantibod ...Rattus norvegicusJ. Neuroimmunol.219105-1082010-1---------1-3-----4--1-------------1------------1-----4--1---------------
705672RenQuantitative proteomics identi ...Homo sapiensMol. Cancer9812010-1--------11-3-----3--1----------1--1-----------11-----3--1--------11111--
706661HakobyanMolecular dynamics study of in ...Homo sapiensProteins781691-17042010-------------3--------1-----------------------------------1---------------
715964SolemPhosphoglycerate mutase is a h ...Lactococcus lactis subsp. lactisJ. Mol. Microbiol. Biotechnol.18174-1802010------11--1--3--------11---1---1------1----1-1--1---------11---1-----11---
694538FosterThe Wolbachia endosymbiont of ...Wolbachia sp.Parasitol. Res.1041047-10522009-11-------2--8--1-----1--------1----111---------2----1----1---------------
703707KowalskiPhosphoglycerate mutase in mam ...Oryctolagus cuniculus, Rattus norvegicusFEBS Lett.5831841-18452009--------1----3-----3--2-----------------------1--------3--2---------------
703862iaoAn insertion of intracisternal ...Mus musculusGenes Genet. Syst.84327-3342009-----------1-4-----2--1--------------------------1-----2--1---------------
705169NowickiCrystal structures of Leishman ...Leishmania mexicanaJ. Mol. Biol.394535-5432009--11-----1---4--1-----1--------1-----111-------1-----1----1---------------
690732KajiwaraPeony root extract upregulates ...Mus musculusBiochem. Biophys. Res. Commun.371375-37920082---------2--3-----1--1----------1-2------------2------1--1--------1------
692403SaavedraGlycolysis in Ustilago maydis ...Ustilago maydisFEMS Yeast Res.81313-13232008-------------4--------1--------1------1-------------------1---------------
693442QiuAssignment and expression patt ...Sus scrofaJ. Genet. Genomics35257-2602008--1-----2-1--7-----3--1--------------2--------4-2------6--2---------------
694050JacobowitzImmunohistochemical localizati ...Rattus norvegicusMicrovasc. Res.7689-932008-1--------1--3-----1--1----------1--1-----------1------1--1--------1------
678734NukuiStructure and molecular mechan ...Bacillus anthracisBiophys. J.92977-9882007--11---------5--11-21-2--------------1-1-------------1-21-2---------------
679715JohnsenCharacterization of cofactor-d ...Archaeoglobus fulgidus, Thermoplasma acidophilumExtremophiles11647-65720072-2-1-14-22--6----1-2-42--3-12-----2-2--1--1-4-22-----1-2-42--3-12--------
681851EvansMechanistic and structural req ...Homo sapiensMol. Biosyst.3495-5062007---11-1------3-------------------------11--1------------------------------
682237DjikengCofactor-independent phosphogl ...Trypanosoma bruceiParasitol. Res.100887-8922007----1--------3-----2--------------------1--------------2------------------
677357LokanathPurification, crystallization ...Pyrococcus horikoshiiActa Crystallogr. Sect. F62788-7902006--11---------4--1------1-------------1-1-------------1-----1--------------
677393KleinmanCrystallization and initial cr ...Mus musculusActa Crystallogr. Sect. FF62218-2202006--11---------2-----1-----------------1-1---------------1------------------
680944HakobyanInvestigation of interaction b ...Saccharomyces cerevisiaeJ. Biomol. Struct. Dyn.23625-6332006-------------3---------1-----------------------------------1--------------
660610MullerThe 1.70 angstroms X-ray cryst ...Mycobacterium tuberculosisActa Crystallogr. Sect. D61309-3152005--11---------3--1--------------------1-1-------------1--------------------
660633WatkinsCloning, expression, purificat ...Mycobacterium tuberculosisActa Crystallogr. Sect. FF61753-7552005--11------1--2---------1-------------1-1--------1----------1--------------
660903WangCrystal structure of human B-t ...Homo sapiensBiochem. Biophys. Res. Commun.3311207-12152005-1-1---------4---------1------------1--1-------------------1--------------
661261de AtauriCharacterization of the first ...Homo sapiensBiochim. Biophys. Acta1740403-4102005-1--1--1-----5---1-3--3---1---------1---1----1---------3--3---1-----------
661689SaavedraGlycolysis in Entamoeba histol ...Entamoeba histolyticaFEBS J.2721767-17832005--1----4-----4-------12----42--1-----11------4-----------12----42---------
661847RepisoPhosphoglycerate mutase BB iso ...Homo sapiensHaematologica90257-2592005-1--1--------1----------------------1---1---------------------------------
661634GuerraCharacterization of the cofact ...Leishmania mexicanaEur. J. Biochem.2711798-18102004--1--14231---5----121-21---211-1-1---11--1-4-231------121-21---211-1------
661851Gonzalez-CincaEffects of thyroid hormone and ...Oryctolagus cuniculusHorm. Res.62191-1962004-1-----------2-----5----------------1------------------5------------------
662259ZhangCofactor-independent phosphogl ...Brugia malayi, Caenorhabditis elegansJ. Biol. Chem.27937185-371902004--2-1-2------7------4-42-------2-----22-1--2------------4-42--------------
649202PoonpermExpression, purification, crys ...Leishmania mexicanaActa Crystallogr. Sect. D591313-13162003--11-------1-4--1-----1--------1-----111---------1---1----1---------------
651716PottersPhosphoprotein with phosphogly ...Sulfolobus solfataricusJ. Bacteriol.1852112-21212003---------3-1-3-11-----11-----------------------3-1--11----11--------------
652915RigdenInsights into the catalytic me ...Geobacillus stearothermophilusJ. Mol. Biol.328909-9202003--111------1-2--1-----1--------1-----1111--------1---1----1---------------
651372van der OostMolecular characterization of ...Methanocaldococcus jannaschii, Pyrococcus furiosusFEMS Microbiol. Lett.212111-1202002--2---42-222-6--2-----22----2--2-----22----4-2-222---2----22----2---------
652877BondMechanistic implications for E ...Escherichia coliJ. Mol. Biol.3161071-108120021-11-------1-5--1-----11-----------1-1-1---------1---1----11--------------
652846UhrinovaSolution structure and dynamic ...Schizosaccharomyces pombeJ. Mol. Biol.306275-2902001--1-1------1-4--1--1--11-------------1--1--------1---1-1--11--------------
650970JedrzejasStructure and mechanism of act ...Geobacillus stearothermophilusEMBO J.191419-14312000--1112----1-1-3--1-----1-----11-1-----11112------1-1---1----1-----11--------
651058ChevalierTrypanosoma brucei contains a ...Trypanosoma bruceiEur. J. Biochem.2671464-14722000--1----2---1-5--1--11-11-------1-1---11------2---1---1-11-11-------1------
651088NairnCharacterization of active-sit ...Schizosaccharomyces pombeEur. J. Biochem.2677065-707420002-1-7--7---1-3--------2------------2-1--7----7---1--------2---------------
649101CrowhurstStructure of a phosphoglycerat ...Saccharomyces cerevisiaeActa Crystallogr. Sect. D551822-182619991--1-------1-3--1-----1------------1---1---------1---1----1---------------
649656Walter-The role of the C-terminal reg ...Saccharomyces cerevisiae, Schizosaccharomyces pombeBiochem. J.33789-9519994-2-32-6---2-2--2-----42---4---1---4-21-32---6---2---2----42---4----------
652790RigdenSulphate ions observed in the ...Saccharomyces cerevisiaeJ. Mol. Biol.2861507-151719991-113--4---1-3--------1----4-------1-1-13----4---1--------1----4----------
652799RigdenPolyanionic inhibitors of phos ...Saccharomyces cerevisiae, Schizosaccharomyces pombeJ. Mol. Biol.289691-69919992--1-1122---2-5--2-----3----2----12--2---1-1-12122---2---2----3----2----------
653052ChanderStructural studies on a 2,3-di ...Geobacillus stearothermophilusJ. Struct. Biol.126156-1651999--11---1-1-1-3--1---2-11----1--1-1---111-----1-1-1---1--2-11----1--1------
3216RigdenThe 2.3 A X-ray crystal struct ...Saccharomyces cerevisiaeJ. Mol. Biol.276449-45919981--1-------1-4--1-----11-----------1---1---------1---1----11--------------
650753ChanderThe enzymatic activity of phos ...Bacillus subtilis, Clostridium perfringens, Micrococcus luteus, Planococcus citreus, Sporosarcina ureae, Staphylococcus saprophyticus, Streptomyces coelicolorCan. J. Microbiol.44759-7671998------16-9-7-12--7---7-7-----77-7------7----1-6-9-7---7--7-7-----77--------
3217DuranyPhosphoglycerate mutase, 2,3-b ...Homo sapiensBr. J. Cancer761139-114919971----------1-2-----25-2------------1-------------1-----25-2---------------
3218DuranyPhosphoglycerate mutase, 2,3-b ...Homo sapiensBr. J. Cancer75969-9771997-------------1-----41----------------------------------41-----------------
3219PriceThe reaction of phosphoglycera ...Schizosaccharomyces pombeBiochem. Soc. Trans.24324S19961-----1------2--------1------------1-------1--------------1---------------
3220DuranyDistribution of phosphoglycera ...Homo sapiens, Oryctolagus cuniculus, Rattus norvegicusComp. Biochem. Physiol. B114217-2231996-------------7-----24-----------------------------------24------------------
3221NairnPhosphoglycerate mutase from S ...Schizosaccharomyces pombeBiochim. Biophys. Acta129669-7519961-1----------4------2-11-----------1-1------------------2-11--------------
3222WangLily cofactor-independent phos ...Lilium longiflorumPlanta200343-35219961-------3----4-----4---------------1----------3--------4------------------
3223Grana2,3-Bisphosphoglycerate-indepe ...Homo sapiens, More, Prunus dulcis, Zea maysComp. Biochem. Physiol. B112287-2931995-------------10-----2-----------------------------------2------------------
3224KuhnCooperative Manganese (II) act ...Bacillus megateriumArch. Biochem. Biophys.32035-421995---------1---2-----1---------------------------1-------1------------------
3225MorrisIsolation and sequence analysi ...Pseudomonas syringaeJ. Bacteriol.1771727-17331995--1----------7--------1--------------1--------------------1---------------
3226Perez de la OssaIsolation and characterization ...Zea maysBiochem. Biophys. Res. Commun.2031204-120919941-1----------3-----1---------------1-1-----------------1------------------
3227EstellerThyroid hormone stimulates pho ...Rattus norvegicusLife Sci.54533-5381994-------------3-----6-----------------------------------6------------------
3228HuangHigher-plant cofactor-independ ...Nicotiana tabacum, Ricinus communisPlant Mol. Biol.231039-10531993--1-----22---7--1--41----------------1--------22-----1-41-----------------
677798KuhnManganese(II) activation of 3- ...Bacillus megateriumArch. Biochem. Biophys.306342-3491993------1--2---3----1------------------------1---2------1-------------------
3229WhitePhosphoglycerate mutase from S ...Streptomyces coelicolorJ. Bacteriol.174434-44019921-1---111-1--5--1---1-11-----------1-1-----1-11-1----1--1-11--------------
3230WhiteDevelopment of a mutagenesis, ...Saccharomyces cerevisiaeEur. J. Biochem.207709-71419921-1-1--2-----3--1----------2-------1-1--1----2-------1---------2----------
3231WhiteMutase versus synthase: the ph ...Saccharomyces cerevisiaeBiochem. Soc. Trans.1825719901---2--6---1-1---1----3----3-------1----2----6---1--------3----3----------
3232UrenaLocation of phosphoglycerate m ...Rattus norvegicusEur. J. Cell Biol.51151-1561990--------3-1--3-----2--------------------------3-1------2------------------
3233EdwardsPurification of human muscle p ...Homo sapiensJ. Chromatogr.490424-4311989-------------2-----3-----------------------------------3------------------
3234GranaPurification, characterization ...Zea maysEur. J. Biochem.186149-1531989------22--1--5--1--21111----11-------------2-2--1----1-21111----11--------
3235BatkeComplex of brain D-phosphoglyc ...Bos taurusArch. Biochem. Biophys.264510-5181988-------------2-----1-----------------------------------1------------------
3236CastellaImmunological properties of ra ...Rattus norvegicusBiochim. Biophys. Acta95697-1021988-------------3--1--2--11-----------------------------1-2--11--------------
3237McAleese-Cofactor-independent monophosp ...Neurospora crassaBiochem. Soc. Trans.16558-55919881----1----1--1--1------1-----------1-----1------1----1-----1--------------
3238JohnsonDo metal ions promote the re-a ...Emericella nidulans, Neurospora crassa, Triticum aestivumBiochem. J.252111-1171988------4---1--6--1-3--1-2-------------------4----1----13--1-2--------------
3261SakodaIsolation of a cDNA encoding t ...Homo sapiensJ. Biol. Chem.26316899-169051988--1----------4-----1-----------------1-----------------1------------------
3239Johnson-Co-factor-independent phosphog ...Bacillus megaterium, Bacillus subtilis, Cyberlindnera jadinii, Enterobacter aerogenes, Escherichia coli, Oryctolagus cuniculus, Saccharomyces cerevisiae, Schizosaccharomyces pombe, Solanum tuberosum, Vigna radiataBiochem. Soc. Trans.1587819874-----26------10---------------------4-------26------------------------------
3240Johnson-How similar are the phosphogly ...Oryctolagus cuniculus, Saccharomyces cerevisiaeBiochem. Soc. Trans.15247-24819872-----4------2---221---1-----------2-------4----------21---1--------------
3262ShanskeIsolation of cDNA encoding the ...Homo sapiensJ. Biol. Chem.26214612-146171987--1----------4-----1-----------------1-----------------1------------------
3241PawlukIsolation and properties of th ...Zymomonas mobilisBiochem. J.238275-28119861------1--1--4--1---1-11-----------1---------1--1----1--1-11--------------
3242PrehuPurification of the M-type pho ...Oryctolagus cuniculusJ. Chromatogr.360203-2101986-------------3--1--31-1------------------------------1-31-1---------------
3243BothaIsozymes of phosphoglyceromuta ...Ricinus communisArch. Biochem. Biophys.24596-10319861-----14212--3--1--221----2-3-3----1-------1-4212----1-221----2-3-3-------
3244SmithWheat germ phosphoglycerate mu ...Triticum aestivumBiochem. Biophys. Res. Commun.131743-7491985------5------3--1--11----------------------5---------1-11-----------------
3245RosaPurification of human erythroc ...Homo sapiensJ. Chromatogr.285203-2091984-------------2--1--21--------------------------------1-21-----------------
3246KulbeSimultaneous purification of g ...Sus scrofaMethods Enzymol.90498-5111982-------------2--1--41-1------------------------------1-41-1---------------
3247ScopesPurification of all glycolytic ...Oryctolagus cuniculusMethods Enzymol.90479-4901982-------------1--1--1--1------------------------------1-1--1---------------
3248BartronsPurification and characterizat ...Sus scrofaBiochim. Biophys. Acta708167-1771982------12--1--3--1--2--11--1-11-------------1-2--1----1-2--11--1-11--------
3213RoseThe enzymology of 2,3-bisphosp ...Gallus gallus, Homo sapiens, Oryctolagus cuniculus, Saccharomyces cerevisiae, Sus scrofa, Triticum aestivumAdv. Enzymol. Relat. Areas Mol. Biol.51211-25319804------------6---------------------4--------------------------------------
3249SinghPurification and properties of ...Bacillus megaterium, Bacillus subtilisJ. Bacteriol.1371024-102719792-----41--1--4--1--2---1----1------2-------4-1--1----1-2---1----1---------
3250WatabePurification and properties of ...Bacillus subtilisJ. Bacteriol.137773-77819792-----92-----3------1-2-----11-----2-------9-2----------1-2-----11--------
3251IkuraImmunochemical and enzymatic p ...Homo sapiensEur. J. Biochem.8923-311978------11-----2--1--2-----------------------1-1-------1-2------------------
3252GatehousePhosphoglycerate mutase from w ...Triticum aestivumBiochemistry163045-305219771--1------2--3--1--1-1--------1----1---1--------2----1-1-1--------1-------
3253HillPurification and characterizat ...Hyphomicrobium sp., Pseudomonas sp.J. Gen. Microbiol.96185-19319762------4-----7--2---224---4-2------2---------4-------2--224---4-2---------
3254SheibleyIsolation and partial characte ...Homo sapiensJ. Biol. Chem.2516699-670419761---------1--3--1--211-1----1------1------------1----1-211-1----1---------
3255HassA comparison of some of the ph ...Homo sapiensBiochem. Biophys. Res. Commun.72976-9831976----------1--1-----1---1------------------------1------1---1--------------
3256HartmanDetection of an essential sulf ...Oryctolagus cuniculusJ. Biol. Chem.2514565-45691976------1------3-----2-----------------------1-----------2------------------
3257SasakiSubunit structure and multifun ...Saccharomyces cerevisiaeEur. J. Biochem.66523-5331976------1------3--1---1----------------------1---------1--1-----------------
3258GrisoliaPhosphoglycerate mutase from y ...Gallus gallus, Saccharomyces cerevisiae, Sus scrofaMethods Enzymol.42435-4501975-------------5--3--73-----3--------------------------3-73-----3-----------
3259Grisolia-Phosphoglycerate mutase from w ...Oryza sativa, Triticum aestivumMethods Enzymol.42429-43519752------2-----2--2--21-2----2--1----2---------2-------2-21-2----2--1-------
3260D'AlessioPhosphoglycerate kinase, phosp ...Escherichia coliMethods Enzymol.42139-14419751---------1--2--1---1--------------1------------1----1--1-----------------
3214Ray-Phosphomutases ...Gallus gallus, Oryctolagus cuniculus, Saccharomyces cerevisiae, Sus scrofa, Triticum aestivumThe Enzymes, 3rd Ed. (Boyer, P.D., ed.)6407-4771972-----2-------5------------4--------------2--------------------4-----------
3215Grisolia-Phosphoglyceric acid mutases ...Saccharomyces cerevisiae, Triticum aestivumMethods Enzymol.5236-2421962------2------2------221-----2--------------2------------221-----2---------