PGK1 - phosphoglycerate kinase 1 Gene

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

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 5230

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

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Verweise Source
enables phosphoglycerate kinase activity EXP
EXP: Inferred from Experiment
1278465 GOA
enables phosphoglycerate kinase activity IMP
IMP: Inferred from mutant phenotype
7391028 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
20392205 GOA
enables protein-disulfide reductase (NAD(P)H) activity IMP
IMP: Inferred from mutant phenotype
11130727 GOA
Biological Process GO Annotation Evidence Verweise Source
involved in cellular response to hypoxia IDA
IDA: Inferred from direct assay
11130727 GOA
involved in epithelial cell differentiation IEP
IEP: Inferred from expression pattern
21492153 GOA
involved in glycolytic process IMP
IMP: Inferred from mutant phenotype
7391028 GOA
involved in negative regulation of angiogenesis IMP
IMP: Inferred from mutant phenotype
11130727 GOA
involved in plasminogen activation IMP
IMP: Inferred from mutant phenotype
11130727 GOA
Cellular Component GO Annotation Evidence Verweise Source
located in extracellular space IDA
IDA: Inferred from direct assay
11130727 GOA
located in membrane raft IDA
IDA: Inferred from direct assay
25204797 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

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

PGK1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Verweise
Intra
PGK1 P00558 NEK7 Homo sapiens Q8TDX7
Anti Tag CoIP
32707033
Intra
PGK1 P00558 PGK2 Homo sapiens P07205
Anti Tag CoIP
33961781
Intra
PGK1 P00558 PGK2 Homo sapiens P07205
Anti Tag CoIP
35271311
Intra
PGK1 P00558 GAPDH Homo sapiens P04406
FRET
20392205
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant PGK1 Proteins

Art. -Nr. Produktname Accession Reinheit
HY-P71049 PGK1 Protein, Human (HEK293, His) P00558-1 (S2-I417) ≥ 95%, as determined by reducing SDS-PAGE.

PGK1 Antibodies

Art. -Nr. Produktname Anwendung Reactivity
HY-P80784 PGK1 Antibody WB, ICC/IF, FC Human, Mouse, Rat
HY-P80784A PGK1 Antibody (YA862) WB, ICC/IF Human, Mouse, Rat
HY-P80784AA PGK1 Antibody (YA862)(PBS only) WB, ICC/IF Human, Mouse, Rat

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

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (6)
Art. -Nr. Produktname
Wirkung
Reinheit
Rare Diseases
HY-W195984 Z57346765 99.85% Unkown
HY-178761 PGK1-IN-1 Inhibitor 99.78% Unkown
HY-N8540 Ilicicolin H Inhibitor 96.7% Unkown
HY-178989 PGK1-IN-2 Inhibitor / Unkown
HY-177944 DC-PGKI Inhibitor / Unkown
HY-184191 PGK1-IN-3 Inhibitor / Unkown

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