Aliases for PGK1 Gene
External Ids for PGK1 Gene
Previous GeneCards Identifiers for PGK1 Gene
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. Additionally, this protein is secreted by tumor cells where it participates in angiogenesis by functioning to reduce disulfide bonds in the serine protease, plasmin, which consequently leads to the release of the tumor blood vessel inhibitor angiostatin. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. Deficiency of the enzyme is associated with a wide range of clinical phenotypes hemolytic anemia and neurological impairment. Pseudogenes of this gene have been defined on chromosomes 19, 21 and the X chromosome. [provided by RefSeq, Jan 2014]
GeneCards Summary for PGK1 Gene
PGK1 (Phosphoglycerate Kinase 1) is a Protein Coding gene. Diseases associated with PGK1 include Phosphoglycerate Kinase 1 Deficiency and Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency. Among its related pathways are Glycosaminoglycan metabolism and Glucose metabolism. GO annotations related to this gene include phosphoglycerate kinase activity. An important paralog of this gene is PGK2.
UniProtKB/Swiss-Prot for PGK1 Gene
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).