PGK1
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). In addition to its role as a glycolytic enzyme, it seems that PGK-1 acts as a polymerase alpha cofactor protein (primer recognition protein) (PubMed:2324090). May play a role in sperm motility (PubMed:26677959).
Involvement in disease
Phosphoglycerate kinase 1 deficiency
PGK1D
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Pathway
Carbohydrate degradation; glycolysis; pyruvate from D-glyceraldehyde 3-phosphate: step 2/5.
Sequence Similarities
Belongs to the phosphoglycerate kinase family.
Tissue Specificity
Mainly expressed in spermatogonia. Localized on the principle piece in the sperm (at protein level). Expression significantly decreased in the testis of elderly men.
Cellular localization
- Cytoplasm
Alternative names
PGKA, MIG10, OK/SW-cl.110, PGK1, Phosphoglycerate kinase 1, Cell migration-inducing gene 10 protein, Primer recognition protein 2, PRP 2