Gene

PGK1

Species
Homo sapiens
Symbol
PGK1
Name
phosphoglycerate kinase 1
Synonyms
  • cell migration-inducing gene 10 protein
  • epididymis secretory sperm binding protein Li 68p
Biotype
protein coding gene
Automated Description
Enables phosphoglycerate kinase activity; protein serine/threonine kinase activity; and protein-disulfide reductase (NAD(P)H) activity. Involved in several processes, including cellular response to hypoxia; negative regulation of acetyl-CoA biosynthetic process from pyruvate; and plasminogen activation. Located in several cellular components, including extracellular space; membrane raft; and mitochondrial matrix. Implicated in hemolytic anemia and phosphoglycerate kinase 1 deficiency.
RGD Description
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]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR11406
No data available
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Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
None
Other Sources
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Annotation details
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    Disease Associations

    Cases where the expected disease association was NOT found
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      Alleles and Variants

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        Transgenic Alleles

        Species
        (carrying the transgene)
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        Transgenic construct
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          Models

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            Sequence Feature Viewer

            Genome location
            Assembly version
            GRCh38
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            77.92M77.94M77.96M77.98M78.00M78.02M78.04M78.06M78.08M78.10M78.12M

            Sequence Details

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            Expression

            Primary Sources
            None
            Other Sources
            Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

            Molecular Interactions

            PGK1 molecule type
            Interactor gene
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              Genetic Interactions

              PGK1 role
              PGK1 genetic perturbation
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