MGP Database

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MGP002303

Record overview

MGPD IDMGP002303
Gene ID5313
SpeciesHomo sapiens (Human)
Gene Namepyruvate kinase, liver and RBC
Gene Symbol PKLR
SynonymsPK1; PKL; PKR; RPK; PKRL;
Alternate namespyruvate kinase PKLR; R-type/L-type pyruvate kinase; pyruvate kinase 1; pyruvate kinase isozyme R/L; pyruvate kinase isozymes L/R; pyruvate kinase isozymes R/L; pyruvate kinase type L; pyruvate kinase, liver and blood cell; red cell/liver pyruvate kinase;
Chromosome1
Map Location1q21
EC Number2.7.1.40
SummaryThe protein encoded by this gene is a pyruvate kinase that catalyzes the transphosphorylation of phohsphoenolpyruvate into pyruvate and ATP, which is the rate-limiting step of glycolysis. Defects in this enzyme, due to gene mutations or genetic variations, are the common cause of chronic hereditary nonspherocytic hemolytic anemia (CNSHA or HNSHA). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
OrthologsView orthologs and multiple alignments for PKLR

Proteins

pyruvate kinase PKLR isoform 1
Refseq ID:NP_000289
Protein GI:10835121
UniProt ID:P30613
mRNA ID:NM_000298
Length:574
RefSeq Status:
MSIQENISSLQLRSWVSKSQRDLAKSILIGAPGGPAGYLRRASVAQLTQELGTAFFQQQQLPAAMADTFLEHLCLLDIDSEPVAARSTSIIATIGPASRS
VERLKEMIKAGMNIARLNFSHGSHEYHAESIANVREAVESFAGSPLSYRPVAIALDTKGPEIRTGILQGGPESEVELVKGSQVLVTVDPAFRTRGNANTV
WVDYPNIVRVVPVGGRIYIDDGLISLVVQKIGPEGLVTQVENGGVLGSRKGVNLPGAQVDLPGLSEQDVRDLRFGVEHGVDIVFASFVRKASDVAAVRAA
LGPEGHGIKIISKIENHEGVKRFDEILEVSDGIMVARGDLGIEIPAEKVFLAQKMMIGRCNLAGKPVVCATQMLESMITKPRPTRAETSDVANAVLDGAD
CIMLSGETAKGNFPVEAVKMQHAIAREAEAAVYHRQLFEELRRAAPLSRDPTEVTAIGAVEAAFKCCAAAIIVLTTTGRSAQLLSRYRPRAAVIAVTRSA
QAARQVHLCRGVFPLLYREPPEAIWADDVDRRVQFGIESGKLRGFLRVGDLVIVVTGWRPGSGYTNIMRVLSIS
 
pyruvate kinase PKLR isoform 2
Refseq ID:NP_870986
Protein GI:32967597
UniProt ID:P30613
mRNA ID:NM_181871
Length:543
RefSeq Status:
MEGPAGYLRRASVAQLTQELGTAFFQQQQLPAAMADTFLEHLCLLDIDSEPVAARSTSIIATIGPASRSVERLKEMIKAGMNIARLNFSHGSHEYHAESI
ANVREAVESFAGSPLSYRPVAIALDTKGPEIRTGILQGGPESEVELVKGSQVLVTVDPAFRTRGNANTVWVDYPNIVRVVPVGGRIYIDDGLISLVVQKI
GPEGLVTQVENGGVLGSRKGVNLPGAQVDLPGLSEQDVRDLRFGVEHGVDIVFASFVRKASDVAAVRAALGPEGHGIKIISKIENHEGVKRFDEILEVSD
GIMVARGDLGIEIPAEKVFLAQKMMIGRCNLAGKPVVCATQMLESMITKPRPTRAETSDVANAVLDGADCIMLSGETAKGNFPVEAVKMQHAIAREAEAA
VYHRQLFEELRRAAPLSRDPTEVTAIGAVEAAFKCCAAAIIVLTTTGRSAQLLSRYRPRAAVIAVTRSAQAARQVHLCRGVFPLLYREPPEAIWADDVDR
RVQFGIESGKLRGFLRVGDLVIVVTGWRPGSGYTNIMRVLSIS
 
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