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UniProt functional annotation for P00558 | ||
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| UniProt code: P00558. |
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| Organism: | |
Homo sapiens (Human). |
| Taxonomy: | |
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. |
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| 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). {ECO:0000269|PubMed:2324090, ECO:0000269|PubMed:26677959, ECO:0000269|PubMed:30323285, ECO:0000269|PubMed:7391028}. |
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| Catalytic activity: | |
Reaction=(2R)-3-phosphoglycerate + ATP = (2R)-3-phospho-glyceroyl phosphate + ADP; Xref=Rhea:RHEA:14801, ChEBI:CHEBI:30616, ChEBI:CHEBI:57604, ChEBI:CHEBI:58272, ChEBI:CHEBI:456216; EC=2.7.2.3; Evidence={ECO:0000269|PubMed:30323285, ECO:0000269|PubMed:7391028}; |
| Activity regulation: | |
Specifically inhibited by heterocyclic compound CBR-470-0. {ECO:0000269|PubMed:30323285}. |
| Pathway: | |
Carbohydrate degradation; glycolysis; pyruvate from D- glyceraldehyde 3-phosphate: step 2/5. {ECO:0000269|PubMed:30323285, ECO:0000269|PubMed:7391028}. |
| Subunit: | |
Monomer. {ECO:0000269|PubMed:18463139}. |
| Subcellular location: | |
Cytoplasm. |
| Tissue specificity: | |
Mainly expressed in spermatogonia. Localized on the principle piece in the sperm (at protein level). Expression significantly decreased in the testis of elderly men. {ECO:0000269|PubMed:26677959}. |
| Disease: | |
Phosphoglycerate kinase 1 deficiency (PGK1D) [MIM:300653]: 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. {ECO:0000269|PubMed:1547346, ECO:0000269|PubMed:1586722, ECO:0000269|PubMed:2001457, ECO:0000269|PubMed:6933565, ECO:0000269|PubMed:6941312, ECO:0000269|PubMed:8043870, ECO:0000269|PubMed:8615693, ECO:0000269|PubMed:8673469, ECO:0000269|PubMed:9744480}. Note=The disease is caused by variants affecting the gene represented in this entry. |
| Similarity: | |
Belongs to the phosphoglycerate kinase family. {ECO:0000305}. |
Annotations taken from UniProtKB at the EBI.