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  2. PGK1 - phosphoglycerate kinase 1 Gene

PGK1 - phosphoglycerate kinase 1 Gene

Homo sapiens

Also known as PGKA; MIG10; HEL-S-68p

Gene ID: 5230 | Gene type: protein coding

About PGK1

Cytogenetic location: Xq21.1 Genomic coordinates (GRCh38): X:78,104,248-78,129,295 (from NCBI)

This gene has 6 transcripts (splice variants), 223 orthologues, 1 paralogue and is associated with 3 phenotypes. Ubiquitous expression in kidney (RPKM 128.3), heart (RPKM 120.1) and 25 other tissues.

Summary

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 Products(1)

mRNA Protein Name
NM_000291.4 NP_000282.1 phosphoglycerate kinase 1

PGK1 Protein Structure

PGK

PGK: Phosphoglycerate kinase (8 - 406)

  • 0
  • 100
  • 200
  • 300
  • 417 a.a.
Protein Preferred Names Protein Names

phosphoglycerate kinase 1

PRP 2

Recombinant PGK1 Proteins

Cat. No. Product Name Accession Purity
HY-P71049 PGK1 Protein, Human (HEK293, His) P00558-1 (S2-I417) ≥95%

Related Diseases

Diseases Alias
Phosphoglycerate Kinase 1 Deficiency

Pgk1 Deficiency

Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency

Phosphoglycerate Kinase Deficiency

Pgk Deficiency

Glycogenosis Due To Phosphoglycerate Kinase 1 Deficiency

Gsd Due To Phosphoglycerate Kinase 1 Deficiency

Deficiency Of Phosphoglycerate Kinase

PGK1D

Deficiency, Phosphoglycerate Kinase 1

Male Infertility Due To Obstructive Azoospermia

Male Infertility Due To Impaired Sperm Transport

Hemolytic Anemia

Anemia, Hemolytic

Anemia Hemolytic

Anaemia Due To Other Disorders Of Glutathione Metabolism

Chronic Non Spherocytic Anaemia

G6pd - [Glucose-6-Phosphate Dehydrogenase Deficiency] Anaemia

Anaemia Due To Glucose-6-Phosphate Dehydrogenase Deficiency

Glucose-6-Phosphate Dehydrogenase Deficiency With Anaemia

Glucose-6-Phosphate Dehydrogenase Deficiency Anaemia

Favism Anaemia

Haemolytic Anaemia Due Tog6pd Deficiency

Favism

Pentose Phosphate Pathway Disorder Anaemia

Anaemia Due To Pentose Phosphate Pathway Defect

Menkes Disease

Copper Transport Disease

Menkes Syndrome

MNK

Kinky Hair Disease

Steely Hair Disease

Menkes Kinky-Hair Syndrome

Mk

Steely Hair Syndrome

Menkea Syndrome

Md

Menkes Kinky Hair Syndrome

Hypocupremia, Congenital

Kinky Hair Syndrome

X-Linked Copper Deficiency

Menkes Kinky Hair Disease

Myoglobinuria
Adenosquamous Carcinoma

Adenosquamous Cell Carcinoma

Mixed Adenocarcinoma And Squamous Carcinoma

Carcinoma Adenosquamous

Carcinoma, Adenosquamous

Myopathy

Muscular Diseases

Myopathies

Plantar Fascial Fibromatosis

Dupuytren'S Contracture Of Foot

Ledderhose'S Disease

Fibromatosis, Plantar

Ledderhose Disease

Aplastic Anemia

Aplastic Anemia, Susceptibility To

Anemia Aplastic

Idiopathic Aplastic Anemia

Secondary Aplastic Anemia

Idiopathic Bone Marrow Failure

Aplastic Anemia Idiopathic

AA

Anemia, Aplastic

Aplastic Anemia, Idiopathic

Erythroid Aplasia

Aa - [Aplastic Anaemia]

Haematopoietic Aplasia

Aleukia Haemorrhagica

Anaemia Due To Decreased Red Cell Production

Aplasia Bone Marrow

Aplastic Bone Marrow

Hypoplastic Anaemia Nos

Myeloid Bone Marrow Aplasia

Pancytopenia

Panhaematopenia

Hypoproliferative Anaemia

Medullary Hypoplasia

Red Blood Cells Hypoplastic Anaemia

Panmyelophthisis

Panhemocytopenia

Refractive Hypoproliferative Anaemia

Toxic Anaemia

Toxic Aplastic Anaemia

Aplastic Anaemia Due To Toxic Cause

Idiopathic Aplastic Anaemia Nos

Deficiency Anemia

Anemia

Deficiency Anemias

Anaemia

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Canis familiaris PGK1 VGNC VGNC:49941
Bos taurus PGK1 VGNC VGNC:32789
Rattus norvegicus PGK1 RGD RGD:619878
Mus musculus PGK1 MGD MGI:97555
Others PGK1 NCBI