PGK1

Chr X

phosphoglycerate kinase 1

Also known as: HEL-S-68p, MIG10, PGKA

NCBI Gene: 5230 ENSG00000102144 UniProt: P00558

Phosphoglycerate kinase 1 catalyzes the conversion of 1,3-diphosphoglycerate to 3-phosphoglycerate in the glycolytic pathway and acts as a polymerase alpha cofactor protein. Mutations cause phosphoglycerate kinase 1 deficiency, which presents with hemolytic anemia and neurological impairment. The condition follows X-linked recessive inheritance and the gene is highly constrained against loss-of-function variants.

ResearchSummary from RefSeq, OMIM, UniProt

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]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtPhosphoglycerate kinase 1 deficiency

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

233

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.47

LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (1)