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Sequence of KPYR_HUMAN

EC Number:2.7.1.40

EC Number
Recommended Name
Accession Code
Organism
No of amino acids
Molecular Weight [Da]
Source
pyruvate kinase
P30613
Homo sapiens
574
61830
Reaction
ATP + pyruvate = ADP + phosphoenolpyruvate
Other sequences found for EC No. 2.7.1.40

General information:

Sequence
show sequence in fasta format
  0 MSIQENISSL QLRSWVSKSQ RDLAKSILIG APGGPAGYLR RASVAQLTQE LGTAFFQQQQ
 60 LPAAMADTFL EHLCLLDIDS EPVAARSTSI IATIGPASRS VERLKEMIKA GMNIARLNFS
120 HGSHEYHAES IANVREAVES FAGSPLSYRP VAIALDTKGP EIRTGILQGG PESEVELVKG
180 SQVLVTVDPA FRTRGNANTV WVDYPNIVRV VPVGGRIYID DGLISLVVQK IGPEGLVTQV
240 ENGGVLGSRK GVNLPGAQVD LPGLSEQDVR DLRFGVEHGV DIVFASFVRK ASDVAAVRAA
300 LGPEGHGIKI ISKIENHEGV KRFDEILEVS DGIMVARGDL GIEIPAEKVF LAQKMMIGRC
360 NLAGKPVVCA TQMLESMITK PRPTRAETSD VANAVLDGAD CIMLSGETAK GNFPVEAVKM
420 QHAIAREAEA AVYHRQLFEE LRRAAPLSRD PTEVTAIGAV EAAFKCCAAA IIVLTTTGRS
480 AQLLSRYRPR AAVIAVTRSA QAARQVHLCR GVFPLLYREP PEAIWADDVD RRVQFGIESG
540 KLRGFLRVGD LVIVVTGWRP GSGYTNIMRV LSIS
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Sequence related references
Sequence Reference
Authors
Title
Journal
Volume
Pages
Year
PubMed ID
1206078
Kanno H.,Fujii H.,Hirono A.,Miwa S.
cDNA cloning of human R-type pyruvate kinase and identification of a single amino acid substitution (Thr384-->Met) affecting enzymatic stability in a pyruvate kinase variant (PK Tokyo) associated with hereditary hemolytic anemia.
Proc. Natl. Acad. Sci. U.S.A.
88
8218-8221
1991
1206079
Tani K.,Fujii H.,Nagata S.,Miwa S.
Human liver type pyruvate kinase: complete amino acid sequence and the expression in mammalian cells.
Proc. Natl. Acad. Sci. U.S.A.
85
1792-1795
1988
1206081
Kanno H.,Fujii H.,Miwa S.
Structural analysis of human pyruvate kinase L-gene and identification of the promoter activity in erythroid cells.
Biochem. Biophys. Res. Commun.
188
516-523
1992
1206083
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
Genome Res.
14
2121-2127
2004
1206084
Tani K.,Fujii H.,Tsutsumi H.,Sukegawa J.,Toyoshima K.,Yoshida M.C.,Noguchi T.,Tanaka T.,Miwa S.
Human liver type pyruvate kinase: cDNA cloning and chromosomal assignment.
Biochem. Biophys. Res. Commun.
143
431-438
1987
1206085
Kanno H.,Fujii H.,Tsujino G.,Miwa S.
Molecular basis of impaired pyruvate kinase isozyme conversion in erythroid cells: a single amino acid substitution near the active site and decreased mRNA content of the R-type PK.
Biochem. Biophys. Res. Commun.
192
46-52
1993
1206086
Beutler E.,Baronciani L.
Mutations in pyruvate kinase.
Hum. Mutat.
7
1-6
1996
1206087
Baronciani L.,Bianchi P.,Zanella A.
Hematologically important mutations: red cell pyruvate kinase.
Blood Cells Mol. Dis.
22
85-89
1996
1206088
Baronciani L.,Bianchi P.,Zanella A.
Hematologically important mutations: red cell pyruvate kinase (1st update).
Blood Cells Mol. Dis.
22
259-264
1996
1206089
Baronciani L.,Bianchi P.,Zanella A.
Hematologically important mutations: red cell pyruvate kinase (2nd update).
Blood Cells Mol. Dis.
24
273-279
1998
1206090
Bianchi P.,Zanella A.
Hematologically important mutations: red cell pyruvate kinase (third update).
Blood Cells Mol. Dis.
26
47-53
2000
1206091
Zhou H.,Di Palma S.,Preisinger C.,Peng M.,Polat A.N.,Heck A.J.,Mohammed S.
Toward a comprehensive characterization of a human cancer cell phosphoproteome.
J. Proteome Res.
12
260-271
2013
1206092
Bian Y.,Song C.,Cheng K.,Dong M.,Wang F.,Huang J.,Sun D.,Wang L.,Ye M.,Zou H.
An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
J. Proteomics
96
253-262
2014
1206093
Valentini G.,Chiarelli L.R.,Fortin R.,Dolzan M.,Galizzi A.,Abraham D.J.,Wang C.,Bianchi P.,Zanella A.,Mattevi A.
Structure and function of human erythrocyte pyruvate kinase. Molecular basis of nonspherocytic hemolytic anemia.
J. Biol. Chem.
277
23807-23814
2002
1206094
Neubauer B.,Lakomek M.,Winkler H.,Parke M.,Hofferbert S.,Schroter W.
Point mutations in the L-type pyruvate kinase gene of two children with hemolytic anemia caused by pyruvate kinase deficiency.
Blood
77
1871-1875
1991
1206095
Kanno H.,Fujii H.,Hirono A.,Omine M.,Miwa S.
Identical point mutations of the R-type pyruvate kinase (PK) cDNA found in unrelated PK variants associated with hereditary hemolytic anemia.
Blood
79
1347-1350
1992
1206096
Kanno H.,Fujii H.,Miwa S.
Low substrate affinity of pyruvate kinase variant (PK Sapporo) caused by a single amino acid substitution (426 Arg-->Gln) associated with hereditary hemolytic anemia.
Blood
81
2439-2441
1993
1206097
Baronciani L.,Beutler E.
Analysis of pyruvate kinase-deficiency mutations that produce nonspherocytic hemolytic anemia.
Proc. Natl. Acad. Sci. U.S.A.
90
4324-4327
1993
1206098
Kanno H.,Ballas S.K.,Miwa S.,Fujii H.,Bowman H.S.
Molecular abnormality of erythrocyte pyruvate kinase deficiency in the Amish.
Blood
83
2311-2316
1994
1206099
Lenzner C.,Nuernberg P.,Thiele B.-J.,Reis A.,Brabec V.,Sakalova A.,Jacobasch G.
Mutations in the pyruvate kinase L gene in patients with hereditary hemolytic anemia.
Blood
83
2817-2822
1994
1206100
Baronciani L.,Beutler E.
Molecular study of pyruvate kinase deficient patients with hereditary nonspherocytic hemolytic anemia.
J. Clin. Invest.
95
1702-1709
1995
1206102
Beutler E.,Westwood B.,van Zwieten R.,Roos D.
G-to-T transition at cDNA nt 110 (K37Q) in the PKLR (pyruvate kinase) gene is the molecular basis of a case of hereditary increase of red blood cell ATP.
Hum. Mutat.
9
282-285
1997
1206103
Zarza R.,Alvarez R.,Pujades A.,Nomdedeu B.,Carrera A.,Estella J.,Remacha A.,Sanchez J.M.,Morey M.,Cortes T.,Perez Lungmus G.,Bureo E.,Vives Corrons J.L.
Molecular characterization of the PK-LR gene in pyruvate kinase deficient Spanish patients.
Br. J. Haematol.
103
377-382
1998
1206104
Cohen-Solal M.,Prehu C.,Wajcman H.,Poyart C.,Bardakdjian-Michau J.,Kister J.,Prome D.,Valentin C.,Bachir D.,Galacteros F.
A new sickle cell disease phenotype associating Hb S trait, severe pyruvate kinase deficiency (PK Conakry), and an alpha-2 globin gene variant (Hb Conakry).
Br. J. Haematol.
103
950-956
1998
1206105
Pastore L.,della Morte R.,Frisso G.,Alfinito F.,Vitale D.,Calise R.M.,Ferraro F.,Zagari A.,Rotoli B.,Salvatore F.
Novel mutations and structural implications in R-type pyruvate kinase-deficient patients from Southern Italy.
Hum. Mutat.
11
127-134
1998
1206106
Zanella A.,Bianchi P.,Fermo E.,Iurlo A.,Zappa M.,Vercellati C.,Boschetti C.,Baronciani L.,Cotton F.
Molecular characterization of the PK-LR gene in sixteen pyruvate kinase-deficient patients.
Br. J. Haematol.
113
43-48
2001
1206107
van Wijk R.,Huizinga E.G.,van Wesel A.C.W.,van Oirschot B.A.,Hadders M.A.,van Solinge W.W.
Fifteen novel mutations in PKLR associated with pyruvate kinase (PK) deficiency: structural implications of amino acid substitutions in PK.
Hum. Mutat.
30
446-453
2009
1206108
Lyon G.J.,Jiang T.,Van Wijk R.,Wang W.,Bodily P.M.,Xing J.,Tian L.,Robison R.J.,Clement M.,Lin Y.,Zhang P.,Liu Y.,Moore B.,Glessner J.T.,Elia J.,Reimherr F.,van Solinge W.W.,Yandell M.,Hakonarson H.,Wang J.,Johnson W.E.,Wei Z.,Wang K.
Exome sequencing and unrelated findings in the context of complex disease research: ethical and clinical implications.
Discov. Med.
12
41-55
2011