full name
pyruvate kinase, liver and RBC

synonyms
PK1, PKL, PKR, PKRL, RPK, PKLR, ENSG00000143627

HGNC
HGNC:9020

Entrez Gene
Gene:5313

ENSEMBL
ENSG00000143627
ENSG00000262785

location
chr: 1
start: 155259084
stop: 155278531
strand: -

OMIM
OMIM:609712: PKLR (Autosomal dominant inheritance)
OMIM:102900: Adenosine triphosphate, elevated, of erythrocytes
OMIM:266200: Pyruvate kinase deficiency

transcripts
NM_000298.5
NM_181871.3

pathways
Adenine ribonucleotide biosynthesis, IMP => ADP,ATP [NCBI:618580] [KEGG:hsa_M00049]
Biosynthesis of amino acids [NCBI:790012] [KEGG:hsa01230]
Carbon metabolism [NCBI:814926] [KEGG:hsa01200]
ChREBP activates metabolic gene expression [NCBI:1270114] [REACTOME:R-HSA-163765] [PUBMED:11698644] [PUBMED:15664996] [PUBMED:15118080]
Developmental Biology [NCBI:1270302] [REACTOME:R-HSA-1266738]
FOXA2 and FOXA3 transcription factor networks [NCBI:137911] [Pathway Interaction Database:hnf3bpathway] [PUBMED:2786140] [PUBMED:9632808] [PUBMED:10748140] [PUBMED:8662915] [PUBMED:12865419] [PUBMED:15123725] [PUBMED:15314688] [PUBMED:12145169] [PUBMED:16098831] [PUBMED:10455192] [PUBMED:15616563] [PUBMED:7524494] [PUBMED:7565696] [PUBMED:15959514] [PUBMED:8813720] [PUBMED:11278466] [PUBMED:9369482] [PUBMED:14500912] [PUBMED:8668179] [PUBMED:12911579]
Glucose metabolism [NCBI:1269959] [REACTOME:R-HSA-70326]
Glycolysis [NCBI:1269960] [REACTOME:R-HSA-70171] [PUBMED:16051738]
Glycolysis (Embden-Meyerhof pathway), glucose => pyruvate [NCBI:413340] [KEGG:hsa_M00001]
Glycolysis / Gluconeogenesis [NCBI:82926] [KEGG:hsa00010]
Glycolysis and Gluconeogenesis [NCBI:198814] [WikiPathways:WP534] [PUBMED:22628558]
Glycolysis, core module involving three-carbon compounds [NCBI:413341] [KEGG:hsa_M00002]
Guanine ribonucleotide biosynthesis IMP => GDP,GTP [NCBI:618581] [KEGG:hsa_M00050]
Insulin signaling pathway [NCBI:83090] [KEGG:hsa04910] [PUBMED:15733744] [PUBMED:11282018] [PUBMED:10196204] [PUBMED:18291668] [PUBMED:9609110] [PUBMED:15624019] [PUBMED:9346240] [PUBMED:9445476] [PUBMED:12791379] [PUBMED:9748166] [PUBMED:14635525] [PUBMED:15229476] [PUBMED:12867054] [PUBMED:17344645] [PUBMED:9609111] [PUBMED:11343120] [PUBMED:11742412] [PUBMED:10567225] [PUBMED:16288289]
Integration of energy metabolism [NCBI:1270101] [REACTOME:R-HSA-163685] [PUBMED:15509864] [PUBMED:12721358] [PUBMED:12626323]
Maturity onset diabetes of the young [NCBI:83096] [KEGG:hsa04950] [PUBMED:14614204] [PUBMED:15604203] [PUBMED:15298336] [PUBMED:15028942]
Metabolic pathways [NCBI:132956] [KEGG:hsa01100]
Metabolism [NCBI:1269956] [REACTOME:R-HSA-1430728]
Metabolism of carbohydrates [NCBI:1269957] [REACTOME:R-HSA-71387]
Non-alcoholic fatty liver disease (NAFLD) [NCBI:862188] [KEGG:hsa04932] [PUBMED:21038418] [PUBMED:17498512] [PUBMED:19352614] [PUBMED:12891546] [PUBMED:9285483] [PUBMED:23299992] [PUBMED:22570745] [PUBMED:16364488] [PUBMED:18061659] [PUBMED:22705006] [PUBMED:16374858] [PUBMED:18242193] [PUBMED:20303879] [PUBMED:22940046] [PUBMED:20619513] [PUBMED:16406828] [PUBMED:14685853] [PUBMED:23545492] [PUBMED:21145844]
Purine metabolism [NCBI:82944] [KEGG:hsa00230] [NCBI:1270134] [REACTOME:R-HSA-73847] [PUBMED:4620886] [PUBMED:10986234] [PUBMED:10601204]
Pyruvate metabolism [NCBI:82998] [KEGG:hsa00620] [NCBI:1270123] [REACTOME:R-HSA-70268] [PUBMED:2188967] [PUBMED:7273846]
Regulation of beta-cell development [NCBI:1270337] [REACTOME:R-HSA-186712] [PUBMED:15298336] [PUBMED:11575290] [PUBMED:18094957] [PUBMED:12591178]
Regulation of gene expression in beta cells [NCBI:1270341] [REACTOME:R-HSA-210745] [PUBMED:12591178] [PUBMED:15298336]
Type II diabetes mellitus [NCBI:83094] [KEGG:hsa04930] [NCBI:198791] [WikiPathways:WP1584] [PUBMED:9011569] [PUBMED:11390407] [PUBMED:11078440] [PUBMED:15759102] [PUBMED:15258147] [PUBMED:15823385] [PUBMED:15733744] [PUBMED:7491105] [PUBMED:11325516] [PUBMED:9974390] [PUBMED:12480546] [PUBMED:11272200] [PUBMED:15585596]
glycolysis [NCBI:782396] [BIOCYC:HUMAN_PWY66-400] [PUBMED:12573240] [PUBMED:3902008] [PUBMED:6188151] [PUBMED:8393580] [PUBMED:7574501] [PUBMED:12379646] [PUBMED:1637300] [PUBMED:16742819] [PUBMED:11165514] [PUBMED:22883228] [PUBMED:999838]
superpathway of conversion of glucose to acetyl CoA and entry into the TCA cycle [NCBI:835393] [BIOCYC:HUMAN_PWY66-407]