These reference sequences are curated independently of the genomeĪnnotation cycle, so their versions may not match the RefSeq versions in the current These reference sequences exist independently of genome builds. Expression Ubiquitous expression in kidney (RPKM 128.3), heart (RPKM 120.1) and 25 other tissues See more Orthologs mouse all NEW Try the new Gene table Pseudogenes of this gene have been defined on chromosomes 19, 21 and the X chromosome. Deficiency of the enzyme is associated with a wide range of clinical phenotypes hemolytic anemia and neurological impairment. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. 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 may also act as a cofactor for polymerase alpha. ![]() Full Name phosphoglycerate kinase 1 provided by HGNC Primary source HGNC:HGNC:8896 See related Ensembl:ENSG00000102144 MIM:311800 AllianceGenome:HGNC:8896 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota Metazoa Chordata Craniata Vertebrata Euteleostomi Mammalia Eutheria Euarchontoglires Primates Haplorrhini Catarrhini Hominidae Homo Also known as PGKA MIG10 HEL-S-68p Summary The protein encoded by this gene is a glycolytic enzyme that catalyzes the conversion of 1,3-diphosphoglycerate to 3-phosphoglycerate.
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