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Index > Protein center > PKLR(Gene name) > Human
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  • PKLR (Gene name),
  • Pyruvate kinase isozymes R/L (Protein name ),  KPYR_HUMAN from NCBI database.
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  • General Annotation
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  • Antigen Annotation
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  • 3D
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  • Predicted Eptitope
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  • Vaild Sequence
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  • Gene name:
    PKLR(PK1;PKL);
    Protein name:
    Pyruvate kinase isozymes R/L;
    Alternative:
    R-type/L-type pyruvate kinase;Pyruvate kinase 1;Red cell/liver pyruvate kinase;Red cell/liver pyruvate kinase;
    Organism:
    Human (Homo sapiens). 
    General Annotation
    Sub Unit:
    Homotetramer.
    Function:
    Plays a key role in glycolysis.
    Subcellular Location:
    N/A
    Protein Attributes:
    Sequence length:
    574
    Sequence:
    50:
    MSIQENISSL | QLRSWVSKSQ | RDLAKSILIG | APGGPAGYLR | RASVAQLTQE | 
    100:
    LGTAFFQQQQ | LPAAMADTFL | EHLCLLDIDS | EPVAARSTSI | IATIGPASRS | 
    150:
    VERLKEMIKA | GMNIARLNFS | HGSHEYHAES | IANVREAVES | FAGSPLSYRP | 
    200:
    VAIALDTKGP | EIRTGILQGG | PESEVELVKG | SQVLVTVDPA | FRTRGNANTV | 
    250:
    WVDYPNIVRV | VPVGGRIYID | DGLISLVVQK | IGPEGLVTQV | ENGGVLGSRK | 
    300:
    GVNLPGAQVD | LPGLSEQDVR | DLRFGVEHGV | DIVFASFVRK | ASDVAAVRAA | 
    350:
    LGPEGHGIKI | ISKIENHEGV | KRFDEILEVS | DGIMVARGDL | GIEIPAEKVF | 
    400:
    LAQKMMIGRC | NLAGKPVVCA | TQMLESMITK | PRPTRAETSD | VANAVLDGAD | 
    450:
    CIMLSGETAK | GNFPVEAVKM | QHAIAREAEA | AVYHRQLFEE | LRRAAPLSRD | 
    500:
    PTEVTAIGAV | EAAFKCCAAA | IIVLTTTGRS | AQLLSRYRPR | AAVIAVTRSA | 
    550:
    QAARQVHLCR | GVFPLLYREP | PEAIWADDVD | RRVQFGIESG | KLRGFLRVGD | 
    574:
    LVIVVTGWRP | GSGYTNIMRV | LSIS
    3D Structure:
    N/A
    Predicted Eptitope:
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    EIAab Sequence  Vaild Sequence:
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    Related Databases
    String:
    Pfam:
    MIM:
    KEGG:
    UniGene:
    SMR:
    Uniprot:
     
    FOR
    ELISA Kit for Human Pyruvate kinase isozymes R/L
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    E0208h
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    ELISA Kit for Human Pyruvate kinase isozymes R/L
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    E0208r
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    Packing:
    96T
    ELISA Kit for Human Pyruvate kinase isozymes R/L
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    E0208m
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    ELISA Kit for Human Pyruvate kinase isozymes R/L
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    E0208d
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    Packing:
    96T
    CLIA Kit for Human Pyruvate kinase isozymes R/L
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    U0208d
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    96T
    CLIA Kit for Human Pyruvate kinase isozymes R/L
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    U0208h
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    MSDS:
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    Packing:
    96T
    CLIA Kit for Human Pyruvate kinase isozymes R/L
    Cat.:
    U0208m
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    Please sign in first.
    MSDS:
    Please sign in first.
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    96T
    CLIA Kit for Human Pyruvate kinase isozymes R/L
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    U0208r
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    Packing:
    96T
    Polyclonal Antibody for Human Pyruvate kinase isozymes R/L
    Cat.:
    P0208Rb-h
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    Packing:
    40ug/0.2ml
    Polyclonal Antibody for Human Pyruvate kinase isozymes R/L
    Cat.:
    P0208Rb-m
    Price:
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    Packing:
    40ug/0.2ml
    Polyclonal Antibody for Human Pyruvate kinase isozymes R/L
    Polyclonal Antibody for Human Pyruvate kinase isozymes R/L
    Cat.:
    P0208Rb-r
    Price:
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    Packing:
    40ug/0.2ml
    Monoclonal Antibody for Human Pyruvate kinase isozymes R/L
    Monoclonal Antibody for Human Pyruvate kinase isozymes R/L
    Monoclonal Antibody for Human Pyruvate kinase isozymes R/L
    Monoclonal Antibody for Human Pyruvate kinase isozymes R/L
    Protein for Human Pyruvate kinase isozymes R/L
    Protein for Human Pyruvate kinase isozymes R/L
    Protein for Human Pyruvate kinase isozymes R/L
    Protein for Human Pyruvate kinase isozymes R/L

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    Precision
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    Recovery
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    Linearity
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    References
    1. 1.
      "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."
      Kanno H. , Fujii H. , Hirono A. , Miwa S.
      Proc. Natl. Acad. Sci. U.S.A.88:8218-8221(1991) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA];VARIANT PKRD MET-384
    2. 2.
      "Human liver type pyruvate kinase: complete amino acid sequence and the expression in mammalian cells."
      Tani K. , Fujii H. , Nagata S. , Miwa S.
      Proc. Natl. Acad. Sci. U.S.A.85:1792-1795(1988) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA]
    3. 3.
      Kanno H.
      Submitted (1998-07) to the EMBL/GenBank/DDBJ databases
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: SEQUENCE REVISION TO 130 AND 232
    4. 4.
      "Structural analysis of human pyruvate kinase L-gene and identification of the promoter activity in erythroid cells."
      Kanno H. , Fujii H. , Miwa S.
      Biochem. Biophys. Res. Commun.188:516-523(1992) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]
    5. 5.
      NIEHS SNPs program
      Submitted (2003-06) to the EMBL/GenBank/DDBJ databases
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA];VARIANT ILE-506
    6. 6.
      "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res.14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM R-TYPE)
      tissue: Pancreas.
    7. 7.
      "Human liver type pyruvate kinase: cDNA cloning and chromosomal assignment."
      Tani K. , Fujii H. , Tsutsumi H. , Sukegawa J. , Toyoshima K. , Yoshida M.C. , Noguchi T. , Tanaka T. , Miwa S.
      Biochem. Biophys. Res. Commun.143:431-438(1987) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 470-574
    8. 8.
      "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."
      Kanno H. , Fujii H. , Tsujino G. , Miwa S.
      Biochem. Biophys. Res. Commun.192:46-52(1993) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 365-431;VARIANT PKRD PHE-368
    9. 9.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: REVIEW ON VARIANTS
    10. 10.
      "Hematologically important mutations: red cell pyruvate kinase."
      Baronciani L. , Bianchi P. , Zanella A.
      Blood Cells Mol. Dis.22:85-89(1996) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: REVIEW ON VARIANTS
    11. 11.
      "Hematologically important mutations: red cell pyruvate kinase (1st update)."
      Baronciani L. , Bianchi P. , Zanella A.
      Blood Cells Mol. Dis.22:259-264(1996) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: REVIEW ON VARIANTS
    12. 12.
      "Hematologically important mutations: red cell pyruvate kinase (2nd update)."
      Baronciani L. , Bianchi P. , Zanella A.
      Blood Cells Mol. Dis.24:273-279(1998) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: REVIEW ON VARIANTS
    13. 13.
      "Hematologically important mutations: red cell pyruvate kinase (third update)."
      Bianchi P. , Zanella A.
      Blood Cells Mol. Dis.26:47-53(2000) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: REVIEW ON VARIANTS
    14. 14.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
    15. 15.
      "Structure and function of human erythrocyte pyruvate kinase. Molecular basis of nonspherocytic hemolytic anemia."
      Valentini G. , Chiarelli L.R. , Fortin R. , Dolzan M. , Galizzi A. , Abraham D.J. , Wang C. , Bianchi P. , Zanella A. , Mattevi A.
      J. Biol. Chem.277:23807-23814(2002) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: X-RAY CRYSTALLOGRAPHY (2.73 ANGSTROMS) OF 47-574 IN COMPLEX WITH FRUCTOSE 1,6-BISPHOSPHATE;ALLOSTERIC ACTIVATION;ENZYME REGULATION;CHARACTERIZATION OF VARIANTS PKRD SER-332; ASP-364; ASN-390; HIS-479; TRP-486; LEU-504 AND TRP-532;CHARACTERIZATION OF VARIANT MET-384;SUBUNIT
    16. 16.
      "Point mutations in the L-type pyruvate kinase gene of two children with hemolytic anemia caused by pyruvate kinase deficiency."
      Neubauer B. , Lakomek M. , Winkler H. , Parke M. , Hofferbert S. , Schroter W.
      Blood77:1871-1875(1991) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS PKRD CYS-163 AND MET-384
    17. 17.
      "Identical point mutations of the R-type pyruvate kinase (PK) cDNA found in unrelated PK variants associated with hereditary hemolytic anemia."
      Kanno H. , Fujii H. , Hirono A. , Omine M. , Miwa S.
      Blood79:1347-1350(1992) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT PKRD LYS-421
    18. 18.
      "Low substrate affinity of pyruvate kinase variant (PK Sapporo) caused by a single amino acid substitution (426 Arg-->Gln) associated with hereditary hemolytic anemia."
      Kanno H. , Fujii H. , Miwa S.
      Blood81:2439-2441(1993) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT PKRD GLN-426
    19. 19.
      "Analysis of pyruvate kinase-deficiency mutations that produce nonspherocytic hemolytic anemia."
      Baronciani L. , Beutler E.
      Proc. Natl. Acad. Sci. U.S.A.90:4324-4327(1993) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS PKRD ASP-134; PRO-155; HIS-359; TRP-486; VAL-495 AND GLN-510
    20. 20.
      "Molecular abnormality of erythrocyte pyruvate kinase deficiency in the Amish."
      Kanno H. , Ballas S.K. , Miwa S. , Fujii H. , Bowman H.S.
      Blood83:2311-2316(1994) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT PKRD HIS-479
    21. 21.
      "Mutations in the pyruvate kinase L gene in patients with hereditary hemolytic anemia."
      Lenzner C. , Nuernberg P. , Thiele B.-J. , Reis A. , Brabec V. , Sakalova A. , Jacobasch G.
      Blood83:2817-2822(1994) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS PKRD SER-332; SER-336; LYS-354 DEL; ASP-361; THR-392; HIS-498; GLN-510 AND TRP-532
    22. 22.
      "Molecular study of pyruvate kinase deficient patients with hereditary nonspherocytic hemolytic anemia."
      Baronciani L. , Beutler E.
      J. Clin. Invest.95:1702-1709(1995) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS PKRD GLU-331; ALA-341; LYS-393; SER-393; ASP-458; MET-460 AND HIS-498
    23. 23.
      "Study of the molecular defects in pyruvate kinase (PK) deficient patients affected by hereditary nonspherocytic hemolytic anemia (HNHA)."
      Baronciani L. , Westwood B. , Beutler E.
      J. Invest. Med.43:341A-341A(1995)
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS PKRD
    24. 24.
      "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."
      Beutler E. , Westwood B. , van Zwieten R. , Roos D.
      Hum. Mutat.9:282-285(1997) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT PKHYP GLU-37
    25. 25.
      "Molecular characterization of the PK-LR gene in pyruvate kinase deficient Spanish patients."
      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.
      Br. J. Haematol.103:377-382(1998) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS PKRD GLN-172; GLN-337; HIS-339; THR-357; ILE-408; THR-431; TRP-486 AND GLN-532
    26. 26.
      "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)."
      Cohen-Solal M. , Prehu C. , Wajcman H. , Poyart C. , Bardakdjian-Michau J. , Kister J. , Prome D. , Valentin C. , Bachir D. , Galacteros F.
      Br. J. Haematol.103:950-956(1998) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT PKRD TYR-130
    27. 27.
      "Novel mutations and structural implications in R-type pyruvate kinase-deficient patients from Southern Italy."
      Pastore L. , della Morte R. , Frisso G. , Alfinito F. , Vitale D. , Calise R.M. , Ferraro F. , Zagari A. , Rotoli B. , Salvatore F.
      Hum. Mutat.11:127-134(1998) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS PKRD SER-332; PRO-337; TRP-486; CYS-498 AND GLN-510
    28. 28.
      "Molecular characterization of the PK-LR gene in sixteen pyruvate kinase-deficient patients."
      Zanella A. , Bianchi P. , Fermo E. , Iurlo A. , Zappa M. , Vercellati C. , Boschetti C. , Baronciani L. , Cotton F.
      Br. J. Haematol.113:43-48(2001) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS PKRD MET-335; LYS-348 DEL; GLY-387; ASP-394 AND VAL-394
    29. 29.
      "Fifteen novel mutations in PKLR associated with pyruvate kinase (PK) deficiency: structural implications of amino acid substitutions in PK."
      van Wijk R. , Huizinga E.G. , van Wesel A.C.W. , van Oirschot B.A. , Hadders M.A. , van Solinge W.W.
      Hum. Mutat.30:446-453(2009) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS PKRD TRP-40; 48-THR--THR-53 DEL; PRO-73; ASN-90; ARG-111; THR-154; LEU-163; VAL-165; VAL-272; ASN-310; LEU-320; GLU-358 AND PRO-374
    30. 30.
      "Exome sequencing and unrelated findings in the context of complex disease research: ethical and clinical implications."
      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. , more...
      Discov. Med.12:41-55(2011) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS PKRD ALA-341 AND GLN-569
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