PKLR
entrez
5313
canonical
uniprot
P30613
canonical
ensembl
ENSG00000143627
resolver
ensembl
ENSG00000262785
resolver
ensp
ENSP00000339933
resolver
ensp
ENSP00000376214
resolver
genesymbol
PKLR
resolver
genesymbol_syn
PK1
resolver
genesymbol_syn
PKL
resolver
hgnc
HGNC:9020
resolver
uniprot
O75758
resolver
uniprot
P11973
resolver
uniprot_entry
KPYR_HUMAN
resolver
uniprot_sec
O75758
resolver
uniprot_sec
P11973
resolver
activity_regulation
ACTIVITY REGULATION: Allosterically activated by fructose 1,6-bisphosphate. {ECO:0000269|PubMed:11960989}.
uniprot
proteins
amino_acid_sequence
MSIQENISSLQLRSWVSKSQRDLAKSILIGAPGGPAGYLRRASVAQLTQELGTAFFQQQQLPAAMADTFLEHLCLLDIDSEPVAARSTSIIATIGPASRSVERLKEMIKAGMNIARLNFSHGSHEYHAESIANVREAVESFAGSPLSYRPVAIALDTKGPEIRTGILQGGPESEVELVKGSQVLVTVDPAFRTRGNANTVWVDYPNIVRVVPVGGRIYIDDGLISLVVQKIGPEGLVTQVENGGVLGSRKGVNLPGAQVDLPGLSEQDVRDLRFGVEHGVDIVFASFVRKASDVAAVRAALGPEGHGIKIISKIENHEGVKRFDEILEVSDGIMVARGDLGIEIPAEKVFLAQKMMIGRCNLAGKPVVCATQMLESMITKPRPTRAETSDVANAVLDGADCIMLSGETAKGNFPVEAVKMQHAIAREAEAAVYHRQLFEELRRAAPLSRDPTEVTAIGAVEAAFKCCAAAIIVLTTTGRSAQLLSRYRPRAAVIAVTRSAQAARQVHLCRGVFPLLYREPPEAIWADDVDRRVQFGIESGKLRGFLRVGDLVIVVTGWRPGSGYTNIMRVLSIS
uniprot
proteins
disease_involvement
DISEASE: Pyruvate kinase hyperactivity (PKHYP) [MIM:102900]: Autosomal dominant phenotype characterized by increase of red blood cell ATP. {ECO:0000269|PubMed:9090535}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Anemia, congenital, non-spherocytic hemolytic, 2 (CNSHA2) [MIM:266200]: An autosomal recessive disorder characterized by a variable degree of chronic hemolysis and decreased red cell pyruvate kinase activity. Clinical manifestations range from fatal anemia at birth to a fully compensated hemolysis without apparent anemia. {ECO:0000269|PubMed:10087985, ECO:0000269|PubMed:10772876, ECO:0000269|PubMed:11328279, ECO:0000269|PubMed:11960989, ECO:0000269|PubMed:1536957, ECO:0000269|PubMed:1896471, ECO:0000269|PubMed:19085939, ECO:0000269|PubMed:2018831, ECO:0000269|PubMed:21794208, ECO:0000269|PubMed:7706479, ECO:0000269|PubMed:8161798, ECO:0000269|PubMed:8180378, ECO:0000269|PubMed:8476433, ECO:0000269|PubMed:8481523, ECO:0000269|PubMed:8483951, ECO:0000269|PubMed:8664896, ECO:0000269|PubMed:8807089, ECO:0000269|PubMed:9075576, ECO:0000269|PubMed:9482576, ECO:0000269|PubMed:9827908, ECO:0000269|PubMed:9886305, ECO:0000269|Ref.25}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.7.1.40
uniprot
proteins
function
FUNCTION: Pyruvate kinase that catalyzes the conversion of phosphoenolpyruvate to pyruvate with the synthesis of ATP, and which plays a key role in glycolysis (PubMed:11960989). Also produces the side product 2-phospholactate which can inhibit fructose-2,6-bisphosphate production (PubMed:27294321). 2-phospholactate can be dephosphorylated by PGP which prevents the inhibition of fructose-2,6-bisphosphate production and allows glycolysis to occur (PubMed:27294321). {ECO:0000269|PubMed:11960989, ECO:0000269|PubMed:27294321}.
uniprot
proteins
mass_dalton
61830
uniprot
proteins
pathway_participation
PATHWAY: Carbohydrate degradation; glycolysis; pyruvate from D-glyceraldehyde 3-phosphate: step 5/5. {ECO:0000269|PubMed:11960989}.
uniprot
proteins
protein_family
Pyruvate kinase family
uniprot
proteins
pubmed
10087985
uniprot
proteins
pubmed
10772876
uniprot
proteins
pubmed
11328279
uniprot
proteins
pubmed
11960989
uniprot
proteins
pubmed
1445295
uniprot
proteins
pubmed
1536957
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
1896471
uniprot
proteins
pubmed
19085939
uniprot
proteins
pubmed
2018831
uniprot
proteins
pubmed
21794208
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
27294321
uniprot
proteins
pubmed
3126495
uniprot
proteins
pubmed
3566732
uniprot
proteins
pubmed
7706479
uniprot
proteins
pubmed
8161798
uniprot
proteins
pubmed
8180378
uniprot
proteins
pubmed
8476433
uniprot
proteins
pubmed
8481523
uniprot
proteins
pubmed
8483951
uniprot
proteins
pubmed
8664896
uniprot
proteins
pubmed
8807089
uniprot
proteins
pubmed
9075576
uniprot
proteins
pubmed
9090535
uniprot
proteins
pubmed
9482576
uniprot
proteins
pubmed
9827908
uniprot
proteins
pubmed
9886305
uniprot
proteins
sequence_length
574
uniprot
proteins