PGK1
entrez
5230
canonical
uniprot
P00558
canonical
ensembl
ENSG00000102144
resolver
ensp
ENSP00000362413
resolver
genesymbol
HEL-S-68p
resolver
genesymbol
PGK1
resolver
genesymbol_syn
PGKA
resolver
hgnc
HGNC:8896
resolver
uniprot
A8K4W6
resolver
uniprot
B7Z7A9
resolver
uniprot
Q5J7W1
resolver
uniprot
Q6IBT6
resolver
uniprot
Q8NI87
resolver
uniprot
V9HWF4
resolver
uniprot_entry
PGK1_HUMAN
resolver
uniprot_entry
V9HWF4_HUMAN
resolver
uniprot_sec
A8K4W6
resolver
uniprot_sec
B7Z7A9
resolver
uniprot_sec
Q5J7W1
resolver
uniprot_sec
Q6IBT6
resolver
uniprot_sec
Q8NI87
resolver
activity_regulation
ACTIVITY REGULATION: Specifically inhibited by heterocyclic compound CBR-470-0. {ECO:0000269|PubMed:30323285}.
uniprot
proteins
amino_acid_sequence
MSLSNKLTLDKLDVKGKRVVMRVDFNVPMKNNQITNNQRIKAAVPSIKFCLDNGAKSVVLMSHLGRPDGVPMPDKYSLEPVAVELKSLLGKDVLFLKDCVGPEVEKACANPAAGSVILLENLRFHVEEEGKGKDASGNKVKAEPAKIEAFRASLSKLGDVYVNDAFGTAHRAHSSMVGVNLPQKAGGFLMKKELNYFAKALESPERPFLAILGGAKVADKIQLINNMLDKVNEMIIGGGMAFTFLKVLNNMEIGTSLFDEEGAKIVKDLMSKAEKNGVKITLPVDFVTADKFDENAKTGQATVASGIPAGWMGLDCGPESSKKYAEAVTRAKQIVWNGPVGVFEWEAFARGTKALMDEVVKATSRGCITIIGGGDTATCCAKWNTEDKVSHVSTGGGASLELLEGKVLPGVDALSNI
uniprot
proteins
disease_involvement
DISEASE: Phosphoglycerate kinase 1 deficiency (PGK1D) [MIM:300653]: A condition with a highly variable clinical phenotype that includes hemolytic anemia, rhabdomyolysis, myopathy and neurologic involvement. Patients can express one or more of these manifestations, and some affected individuals develop parkinsonian symptoms. {ECO:0000269|PubMed:1547346, ECO:0000269|PubMed:1586722, ECO:0000269|PubMed:2001457, ECO:0000269|PubMed:6933565, ECO:0000269|PubMed:6941312, ECO:0000269|PubMed:8043870, ECO:0000269|PubMed:8615693, ECO:0000269|PubMed:8673469, ECO:0000269|PubMed:9744480}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.7.11.1
uniprot
proteins
ec_number
2.7.2.3
uniprot
proteins
function
FUNCTION: Catalyzes one of the two ATP producing reactions in the glycolytic pathway via the reversible conversion of 1,3-diphosphoglycerate to 3-phosphoglycerate (PubMed:30323285, PubMed:7391028). Both L- and D- forms of purine and pyrimidine nucleotides can be used as substrates, but the activity is much lower on pyrimidines (PubMed:18463139). In addition to its role as a glycolytic enzyme, it seems that PGK1 acts as a polymerase alpha cofactor protein (primer recognition protein) (PubMed:2324090). Acts as a protein kinase when localized to the mitochondrion where it phosphorylates pyruvate dehydrogenase kinase PDK1 to inhibit pyruvate dehydrogenase complex activity and suppress the formation of acetyl-coenzyme A from pyruvate, and consequently inhibit oxidative phosphorylation and promote glycolysis (PubMed:26942675, PubMed:36849569). May play a role in sperm motility (PubMed:26677959). {ECO:0000269|PubMed:18463139, ECO:0000269|PubMed:2324090, ECO:0000269|PubMed:26677959, ECO:0000269|PubMed:26942675, ECO:0000269|PubMed:30323285, ECO:0000269|PubMed:36849569, ECO:0000269|PubMed:7391028}.
uniprot
proteins
mass_dalton
44615
uniprot
proteins
mutagenesis
MUTAGEN 378; /note="T->P: Loss of activity."; /evidence="ECO:0000269|PubMed:26942675
uniprot
proteins
pathway_participation
PATHWAY: Carbohydrate degradation; glycolysis; pyruvate from D-glyceraldehyde 3-phosphate: step 2/5. {ECO:0000269|PubMed:30323285, ECO:0000269|PubMed:7391028}.
uniprot
proteins
post_translational_modification
PTM: Phosphorylated at Ser-203 by MAPK1/ERK2 under hypoxic conditions, which promotes its mitochondrial targeting. {ECO:0000269|PubMed:26942675}.
uniprot
proteins
protein_family
Phosphoglycerate kinase family
uniprot
proteins
pubmed
14654843
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
1547346
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15592455
uniprot
proteins
pubmed
15772651
uniprot
proteins
pubmed
1586722
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
18463139
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
2001457
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
21908771
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
2324090
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
26677959
uniprot
proteins
pubmed
26942675
uniprot
proteins
pubmed
2814502
uniprot
proteins
pubmed
29192674
uniprot
proteins
pubmed
29775581
uniprot
proteins
pubmed
2995995
uniprot
proteins
pubmed
30323285
uniprot
proteins
pubmed
36849569
uniprot
proteins
pubmed
6099325
uniprot
proteins
pubmed
6188151
uniprot
proteins
pubmed
6933565
uniprot
proteins
pubmed
6941312
uniprot
proteins
pubmed
7391027
uniprot
proteins
pubmed
7391028
uniprot
proteins
pubmed
7440217
uniprot
proteins
pubmed
8043870
uniprot
proteins
pubmed
8615693
uniprot
proteins
pubmed
8673469
uniprot
proteins
pubmed
9075577
uniprot
proteins
pubmed
9744480
uniprot
proteins
sequence_length
417
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:36849569}. Mitochondrion matrix {ECO:0000269|PubMed:26942675, ECO:0000269|PubMed:36849569}. Note=Hypoxic conditions promote mitochondrial targeting (PubMed:26942675). Targeted to the mitochondrion following phosphorylation by MAPK1/ERK2, cis-trans isomerization by PIN1, and binding to mitochondrial circRNA mcPGK1 (PubMed:36849569). {ECO:0000269|PubMed:26942675, ECO:0000269|PubMed:36849569}.
uniprot
proteins