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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]
PGK1 (Phosphoglycerate Kinase 1) is a Protein Coding gene. Diseases associated with PGK1 include Phosphoglycerate Kinase 1 Deficiency and Male Infertility Due To Obstructive Azoospermia. Among its related pathways are Glucose metabolism and Cori Cycle. Gene Ontology (GO) annotations related to this gene include phosphoglycerate kinase activity. An important paralog of this gene is PGK2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000166 | nucleotide binding | IEA | -- |
GO:0004618 | phosphoglycerate kinase activity | IMP,ISS | -- |
GO:0005515 | protein binding | IPI | 20392205 |
GO:0005524 | ATP binding | IBA,ISS | -- |
GO:0016301 | kinase activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005615 | extracellular space | IDA | 11130727 |
GO:0005737 | cytoplasm | IEA | -- |
GO:0005829 | cytosol | TAS | -- |
GO:0016020 | membrane | HDA | 19946888 |
GO:0045121 | membrane raft | IDA | 25204797 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Glucose metabolism |
Glycolysis and gluconeogenesis (short map)
.58
.52
.46
|
.35
.01
|
2 | Carbon metabolism | ||
3 | Metabolism |
.40
|
|
4 | HIF-1 signaling pathway | ||
5 | Abacavir Pathway, Pharmacokinetics/Pharmacodynamics |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006094 | gluconeogenesis | TAS | -- |
GO:0006096 | glycolytic process | IMP | 7391028 |
GO:0016310 | phosphorylation | ISS | -- |
GO:0016525 | negative regulation of angiogenesis | IMP | 11130727 |
GO:0030855 | epithelial cell differentiation | IEP | 21492153 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Acyclovir | Approved | Pharma | Enzyme, substrate | 124 | ||
Copper | Approved, Investigational | Pharma | Target | 271 | ||
Lamivudine | Approved, Investigational | Pharma | Enzyme, substrate | Nucleoside analog reverse transcriptase inhibitor | 724 | |
3-Phosphoglyceric acid | Experimental | Pharma | Target | 0 | ||
Adenosine-5'-[Beta, Gamma-Methylene]Triphosphate | Experimental | Pharma | Target | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
2-Phosphoglyceric acid |
|
2553-59-5 |
|
|||
ADP |
|
58-64-0 |
|
|||
Glyceric acid 1,3-biphosphate |
|
38168-82-0 |
|
ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12a | · | 12b | ^ | 13 | ^ | 14 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||||||||||||||||||||||||
SP2: | |||||||||||||||||||||||||||||||||||
SP3: | - | - | - | ||||||||||||||||||||||||||||||||
SP4: | |||||||||||||||||||||||||||||||||||
SP5: | - | - | |||||||||||||||||||||||||||||||||
SP6: | - | ||||||||||||||||||||||||||||||||||
SP7: |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | PGK1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Pgk1-rs7 31 |
|
OneToMany | |
Pgk1 30 17 31 |
|
OneToMany | |||
Cow (Bos Taurus) |
Mammalia | PGK1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | PGK1 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Pgk1 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
Chicken (Gallus gallus) |
Aves | PGK1 30 31 |
|
OneToMany | |
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | pgk1 30 |
|
||
Str.6909 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | pgk1-prov 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | pgk1 30 31 |
|
OneToMany | |
Dr.898 30 |
|
||||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.365 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | Pgk 30 31 32 |
|
ManyToMany | |
CG9961 31 32 |
|
ManyToMany | |||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP008802 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | T03F1.3 32 |
|
|
|
pgk-1 30 31 |
|
OneToMany | |||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | PGK1 30 31 33 |
|
OneToMany | |
A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_AEL038C 30 |
|
||
K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0A11011g 30 |
|
||
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | AT1G56190 30 |
|
||
Bread mold (Neurospora crassa) |
Ascomycetes | NCU07914 30 |
|
||
Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | pgk1 30 |
|
||
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.7747 30 |
|
SNP ID | Clinical significance and condition | Chr 0X pos | Variation | AA Info | Type |
---|---|---|---|---|---|
973436 | Likely Benign: Phosphoglycerate kinase 1 deficiency | 78,113,865(+) |
C/T NM_000291.4(PGK1):c.238C>T (p.Pro80Ser) |
MISSENSE | |
rs1057524140 | Likely Pathogenic: not provided | 78,113,812(+) |
G/A NM_000291.4(PGK1):c.185G>A (p.Ser62Asn) |
MISSENSE | |
rs1060499671 | Uncertain Significance: Profound global developmental delay; Epileptic encephalopathy | 78,123,355(+) |
G/T NM_000291.4(PGK1):c.917G>T (p.Gly306Val) |
MISSENSE | |
rs113112273 | Benign: not provided | 78,124,580(+) |
A/G NM_000291.4(PGK1):c.937-294A>G |
INTRON | |
rs1161966279 | Uncertain Significance: not provided | 78,114,069(+) |
C/T NM_000291.4(PGK1):c.326C>T (p.Ala109Val) |
MISSENSE |
Disorder | Aliases | PubMed IDs |
---|---|---|
phosphoglycerate kinase 1 deficiency |
|
|
male infertility due to obstructive azoospermia |
|
|
hemolytic anemia |
|
|
menkes disease |
|
|
myoglobinuria |
|
|