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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	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	Reference	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	Reference	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

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-134205A	CBR-470-1	Activator	98.03%	Unkown
HY-15154	NG 52	Inhibitor	99.97%	Unkown
HY-W195984	Z57346765	Inhibitor	99.55%	Unkown
HY-RS10384	PGK1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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