AlphaFold predicted structure
PGK1 · P00558
Mean pLDDT
96.4/ 100
Very high
417 residues
Confidence breakdown
- Very high(≥ 90)93%
- Confident(70–90)7%
- Low(50–70)0%
- Very low(< 50)0%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
PGK1
Chr Xq21.1phosphoglycerate kinase 1
- MANE:
- ENST00000373316.5
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Acute rhabdomyolysis
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesDDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesGlycogen storage disease
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesIntellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesLikely inborn error of metabolism
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesRhabdomyolysis and metabolic muscle disorders
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesUndiagnosed metabolic disorders
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesRare anaemia
X-LINKED: hemizygous mutation in males, biallelic mutations in females
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Disease associations (Open Targets)
glycogen storage disease due to phosphoglycerate kinase 1 deficiency
0.82Menkes disease
0.58X-linked distal spinal muscular atrophy type 3
0.56occipital horn syndrome
0.56neurodegenerative disease
0.51hereditary disease
0.51tuberculosis
0.37Obstructive azoospermia
0.26Ehlers-Danlos syndrome
0.18Intellectual disability
0.15
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Phosphoglycerate kinase 1
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)
Diseases associated with PGK1
Curated MONDO disease pages that list PGK1 among their top associated genes.