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PGK1 phosphoglycerate kinase 1 [ Homo sapiens (human) ]

Gene ID: 5230, updated on 29-Jul-2014
Official Symbol
PGK1provided by HGNC
Official Full Name
phosphoglycerate kinase 1provided by HGNC
Primary source
HGNC:8896
Locus tag
RP4-570L12.1
See related
Ensembl:ENSG00000102144; HPRD:02412; MIM:311800
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. 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]
See PGK1 in Epigenomics, MapViewer
Location:
Xq13.3
Exon count:
11
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) X NC_000023.11 (78104169..78126827)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (77359666..77382324)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene ATPase, Cu++ transporting, alpha polypeptide Neighboring gene chromosome 4 open reading frame 46 pseudogene Neighboring gene phosphoglycerate mutase family member 4 Neighboring gene TAF9B RNA polymerase II, TATA box binding protein (TBP)-associated factor, 31kDa Neighboring gene fibronectin type III domain containing 3C, pseudogene

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Phosphoglycerate kinase 1 deficiency
MedGen: C1970848 OMIM: 300653 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2012-06-28)

ISCA Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2012-06-28)

ISCA Genome Curation PagePubMed

Protein interactions

Protein Gene Interaction Pubs
Tat tat Expression of HIV-1 Tat upregulates the abundance of phosphoglycerate kinase 1 (PGK1) in the nucleoli of Jurkat T-cells PubMed

Go to the HIV-1, Human Protein Interaction Database

  • Biosynthesis of amino acids, organism-specific biosystem (from KEGG)
    Biosynthesis of amino acids, organism-specific biosystemThis map presents a modular architecture of the biosynthesis pathways of twenty amino acids, which may be viewed as consisting of the core part and its extensions. The core part is the KEGG module fo...
  • Biosynthesis of amino acids, conserved biosystem (from KEGG)
    Biosynthesis of amino acids, conserved biosystemThis map presents a modular architecture of the biosynthesis pathways of twenty amino acids, which may be viewed as consisting of the core part and its extensions. The core part is the KEGG module fo...
  • Carbon metabolism, organism-specific biosystem (from KEGG)
    Carbon metabolism, organism-specific biosystemCarbon metabolism is the most basic aspect of life. This map presents an overall view of central carbon metabolism, where the number of carbons is shown for each compound denoted by a circle, excludi...
  • Carbon metabolism, conserved biosystem (from KEGG)
    Carbon metabolism, conserved biosystemCarbon metabolism is the most basic aspect of life. This map presents an overall view of central carbon metabolism, where the number of carbons is shown for each compound denoted by a circle, excludi...
  • Disease, organism-specific biosystem (from REACTOME)
    Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
  • Gluconeogenesis, organism-specific biosystem (from REACTOME)
    Gluconeogenesis, organism-specific biosystemThe reactions of gluconeogenesis convert mitochondrial pyruvate to cytosolic glucose 6-phosphate which in turn can be hydrolyzed to glucose and exported from the cell. Gluconeogenesis is confined to ...
  • Gluconeogenesis, oxaloacetate => fructose-6P, organism-specific biosystem (from KEGG)
    Gluconeogenesis, oxaloacetate => fructose-6P, organism-specific biosystemPathway module; Carbohydrate and lipid metabolism; Central carbohydrate metabolism
  • Gluconeogenesis, oxaloacetate => fructose-6P, conserved biosystem (from KEGG)
    Gluconeogenesis, oxaloacetate => fructose-6P, conserved biosystemPathway module; Carbohydrate and lipid metabolism; Central carbohydrate metabolism
  • Glucose metabolism, organism-specific biosystem (from REACTOME)
    Glucose metabolism, organism-specific biosystemGlucose is the major form in which dietary sugars are made available to cells of the human body. Its breakdown is a major source of energy for all cells, and is essential for the brain and red blood ...
  • Glycogen storage diseases, organism-specific biosystem (from REACTOME)
    Glycogen storage diseases, organism-specific biosystemThe regulated turnover of glycogen plays a central, tissue-specific role in the maintenance of blood glucose levels and in the provision of glucose to tissues such as muscle and brain in response to ...
  • Glycolysis, organism-specific biosystem (from REACTOME)
    Glycolysis, organism-specific biosystemThe reactions of glycolysis (e.g., van Wijk and van Solinge 2005) convert glucose 6-phosphate to pyruvate. The entire process is cytosolic. Glucose 6-phosphate is reversibly isomerized to form fructo...
  • Glycolysis (Embden-Meyerhof pathway), glucose => pyruvate, organism-specific biosystem (from KEGG)
    Glycolysis (Embden-Meyerhof pathway), glucose => pyruvate, organism-specific biosystemPathway module; Carbohydrate and lipid metabolism; Central carbohydrate metabolism
  • Glycolysis (Embden-Meyerhof pathway), glucose => pyruvate, conserved biosystem (from KEGG)
    Glycolysis (Embden-Meyerhof pathway), glucose => pyruvate, conserved biosystemPathway module; Carbohydrate and lipid metabolism; Central carbohydrate metabolism
  • Glycolysis / Gluconeogenesis, organism-specific biosystem (from KEGG)
    Glycolysis / Gluconeogenesis, organism-specific biosystemGlycolysis is the process of converting glucose into pyruvate and generating small amounts of ATP (energy) and NADH (reducing power). It is a central pathway that produces important precursor metabol...
  • Glycolysis / Gluconeogenesis, conserved biosystem (from KEGG)
    Glycolysis / Gluconeogenesis, conserved biosystemGlycolysis is the process of converting glucose into pyruvate and generating small amounts of ATP (energy) and NADH (reducing power). It is a central pathway that produces important precursor metabol...
  • Glycolysis and Gluconeogenesis, organism-specific biosystem (from WikiPathways)
    Glycolysis and Gluconeogenesis, organism-specific biosystem
    Glycolysis and Gluconeogenesis
  • Glycolysis, core module involving three-carbon compounds, organism-specific biosystem (from KEGG)
    Glycolysis, core module involving three-carbon compounds, organism-specific biosystemPathway module; Carbohydrate and lipid metabolism; Central carbohydrate metabolism
  • Glycolysis, core module involving three-carbon compounds, conserved biosystem (from KEGG)
    Glycolysis, core module involving three-carbon compounds, conserved biosystemPathway module; Carbohydrate and lipid metabolism; Central carbohydrate metabolism
  • HIF-1 signaling pathway, organism-specific biosystem (from KEGG)
    HIF-1 signaling pathway, organism-specific biosystemHypoxia-inducible factor 1 (HIF-1) is a transcription factor that functions as a master regulator of oxygen homeostasis. It consists of two subunits: an inducibly-expressed HIF-1alpha subunit and a c...
  • HIF-1-alpha transcription factor network, organism-specific biosystem (from Pathway Interaction Database)
    HIF-1-alpha transcription factor network, organism-specific biosystem
    HIF-1-alpha transcription factor network
  • HIF-2-alpha transcription factor network, organism-specific biosystem (from Pathway Interaction Database)
    HIF-2-alpha transcription factor network, organism-specific biosystem
    HIF-2-alpha transcription factor network
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of carbohydrates, organism-specific biosystem (from REACTOME)
    Metabolism of carbohydrates, organism-specific biosystemThese pathways together are responsible for: 1) the extraction of energy and carbon skeletons for biosyntheses from dietary sugars and related molecules; 2) the short-term storage of glucose in the b...
  • Myoclonic epilepsy of Lafora, organism-specific biosystem (from REACTOME)
    Myoclonic epilepsy of Lafora, organism-specific biosystemLafora disease is a progressive neurodegenerative disorder with onset typically late in childhood, characterized by seizures and progressive neurological deterioration and death within ten years of o...
  • gluconeogenesis I, organism-specific biosystem (from BIOCYC)
    gluconeogenesis I, organism-specific biosystem
    gluconeogenesis I
  • gluconeogenesis III, conserved biosystem (from BIOCYC)
    gluconeogenesis III, conserved biosystemGeneral Background Blood glucose levels in mammals are maintained during fasting by utilization of liver glycogen stores. When this reserve is depleted, glucose must be generated from non-sugar carb...
  • glycolysis I, organism-specific biosystem (from BIOCYC)
    glycolysis I, organism-specific biosystemGeneral Background Glycolysis, which was first studied as a pathway for the utilization of glucose, is one of the components of central metabolism, the other two being the :PENTOSE-P-PWY and the :TC...
  • glycolysis VI (metazoan), conserved biosystem (from BIOCYC)
    glycolysis VI (metazoan), conserved biosystemGeneral Background Glycolysis is one of the oldest metabolic pathways which occurs within the cell cytosol in nearly all organisms. The free energy released by the conversion of glucose to pyruvate ...
  • homolactic fermentation, conserved biosystem (from BIOCYC)
    homolactic fermentation, conserved biosystemGeneral Background Lactic acid fermentation is a process by which sugars such as glucose, fructose, and sucrose are converted into cellular energy and the metabolic byproduct lactate. It occurs in m...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC8947, MGC117307, MGC142128

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding ISS
Inferred from Sequence or Structural Similarity
more info
 
phosphoglycerate kinase activity EXP
Inferred from Experiment
more info
 
phosphoglycerate kinase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
 
Process Evidence Code Pubs
carbohydrate metabolic process TAS
Traceable Author Statement
more info
 
epithelial cell differentiation IEP
Inferred from Expression Pattern
more info
 
gluconeogenesis TAS
Traceable Author Statement
more info
 
glucose metabolic process TAS
Traceable Author Statement
more info
 
glycolytic process IEA
Inferred from Electronic Annotation
more info
 
glycolytic process TAS
Traceable Author Statement
more info
 
phosphorylation ISS
Inferred from Sequence or Structural Similarity
more info
 
small molecule metabolic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 
extracellular vesicular exosome IDA
Inferred from Direct Assay
more info
PubMed 
membrane IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
phosphoglycerate kinase 1
Names
phosphoglycerate kinase 1
PRP 2
primer recognition protein 2
cell migration-inducing gene 10 protein
epididymis secretory sperm binding protein Li 68p
NP_000282.1

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008862.1 

    Range
    5001..27659
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000291.3NP_000282.1  phosphoglycerate kinase 1

    See proteins identical to NP_000282.1

    Status: REVIEWED

    Source sequence(s)
    BC103752, BU677171, DC336483
    Consensus CDS
    CCDS14438.1
    UniProtKB/Swiss-Prot
    P00558
    UniProtKB/TrEMBL
    V9HWF4
    Conserved Domains (1) summary
    cd00318
    Location:9416
    Blast Score: 1731
    Phosphoglycerate_kinase; Phosphoglycerate kinase (PGK) is a monomeric enzyme which catalyzes the transfer of the high-energy phosphate group of 1,3-bisphosphoglycerate to ADP, forming ATP and 3-phosphoglycerate. This reaction represents the first of the two substrate-level ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000023.11 

    Range
    78104169..78126827
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000155.1 

    Range
    70945945..70968603
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018934.2 

    Range
    77252363..77275021
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)