PGK1

The protein encoded by this gene is a glycolytic enzyme that catalyzes the conversion of 1,3-diphosphoglycerate to 3-phosphoglycerate. The encoded protein may also act as a cofactor for polymerase alpha. This gene lies on the X-chromosome, while a related pseudogene also has been found on the X-chromosome and another on chromosome 19. [provided by RefSeq]

Full Name

phosphoglycerate kinase 1

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).

Biological Process

Cellular response to hypoxiaManual Assertion Based On ExperimentIDA:CAFA
Epithelial cell differentiationManual Assertion Based On ExperimentIEP:UniProtKB
GluconeogenesisManual Assertion Based On ExperimentIBA:GO_Central
Glycolytic processManual Assertion Based On ExperimentIMP:CAFA
Negative regulation of angiogenesisManual Assertion Based On ExperimentIMP:CAFA
PhosphorylationISS:UniProtKB
Plasminogen activationManual Assertion Based On ExperimentIMP:CAFA

Cellular Location

Cytoplasm

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.