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PCK1 phosphoenolpyruvate carboxykinase 1 [ Homo sapiens (human) ]

Gene ID: 5105, updated on 11-Nov-2018

Summary

Official Symbol
PCK1provided by HGNC
Official Full Name
phosphoenolpyruvate carboxykinase 1provided by HGNC
Primary source
HGNC:HGNC:8724
See related
Ensembl:ENSG00000124253 MIM:614168; Vega:OTTHUMG00000032825
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
PCKDC; PEPCK1; PEPCKC; PEPCK-C
Summary
This gene is a main control point for the regulation of gluconeogenesis. The cytosolic enzyme encoded by this gene, along with GTP, catalyzes the formation of phosphoenolpyruvate from oxaloacetate, with the release of carbon dioxide and GDP. The expression of this gene can be regulated by insulin, glucocorticoids, glucagon, cAMP, and diet. Defects in this gene are a cause of cytosolic phosphoenolpyruvate carboxykinase deficiency. A mitochondrial isozyme of the encoded protein also has been characterized. [provided by RefSeq, Jul 2008]
Expression
Biased expression in liver (RPKM 471.7), kidney (RPKM 448.1) and 4 other tissues See more
Orthologs

Genomic context

See PCK1 in Genome Data Viewer
Location:
20q13.31
Exon count:
10
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 20 NC_000020.11 (57561081..57566461)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (56136137..56141515)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene high mobility group box 1 pseudogene 1 Neighboring gene CCCTC-binding factor like Neighboring gene uncharacterized LOC105372690 Neighboring gene Z-DNA binding protein 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Phosphoenolpyruvate carboxykinase deficiency, cytosolic
MedGen: C1849814 OMIM: 261680 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Genome-wide association study identifies a novel locus contributing to type 2 diabetes susceptibility in Sikhs of Punjabi origin from India.
NHGRI GWA Catalog
Preliminary evidence of genetic determinants of adiponectin response to fenofibrate in the Genetics of Lipid Lowering Drugs and Diet Network.
NHGRI GWA Catalog

HIV-1 interactions

Replication interactions

Interaction Pubs
Knockdown of phosphoenolpyruvate carboxykinase 1 (PCK1) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

Protein interactions

Protein Gene Interaction Pubs
integrase gag-pol Interaction of human PCK1 with HIV-1 integrase is presumed based on a reported binding interaction between yeast PCK1 and integrase PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

  • AMPK signaling pathway, organism-specific biosystem (from KEGG)
    AMPK signaling pathway, organism-specific biosystemAMP-activated protein kinase (AMPK) is a serine threonine kinase that is highly conserved through evolution. AMPK system acts as a sensor of cellular energy status. It is activated by increases in th...
  • AMPK signaling pathway, conserved biosystem (from KEGG)
    AMPK signaling pathway, conserved biosystemAMP-activated protein kinase (AMPK) is a serine threonine kinase that is highly conserved through evolution. AMPK system acts as a sensor of cellular energy status. It is activated by increases in th...
  • Abacavir metabolism, organism-specific biosystem (from REACTOME)
    Abacavir metabolism, organism-specific biosystemAbacavir activation proceeds steps of phosphorylation, deamination to yield carbovir monophosphate, and phosphorylation of the latter compound to yield the triphosphate. In addition, abacavir can be ...
  • Abacavir transport and metabolism, organism-specific biosystem (from REACTOME)
    Abacavir transport and metabolism, organism-specific biosystemAbacavir is a nucleoside analogue reverse transcriptase inhibitor with antiretroviral activity, widely used in combination with other drugs to treat HIV-1 infection (Yuen et al. 2008). Its uptake acr...
  • Adipocytokine signaling pathway, organism-specific biosystem (from KEGG)
    Adipocytokine signaling pathway, organism-specific biosystemIncreased adipocyte volume and number are positively correlated with leptin production, and negatively correlated with production of adiponectin. Leptin is an important regulator of energy intake and...
  • Adipocytokine signaling pathway, conserved biosystem (from KEGG)
    Adipocytokine signaling pathway, conserved biosystemIncreased adipocyte volume and number are positively correlated with leptin production, and negatively correlated with production of adiponectin. Leptin is an important regulator of energy intake and...
  • Adipogenesis, organism-specific biosystem (from WikiPathways)
    Adipogenesis, organism-specific biosystemThe different classess of factors involved in adipogenesis are shown. Adipogenesis is the process by which fat cells differentiate from predadipocytes to adipocytes (fat cells). Adipose tissue, compo...
  • Amino Acid metabolism, organism-specific biosystem (from WikiPathways)
    Amino Acid metabolism, organism-specific biosystemA complete overview of the metabolism of all 20 amino acids
  • Angiopoietin Like Protein 8 Regulatory Pathway, organism-specific biosystem (from WikiPathways)
    Angiopoietin Like Protein 8 Regulatory Pathway, organism-specific biosystemThe hepatic ANGPTL8 (Angiopoietin Like Protein 8) regulatory pathway represents an up-to-date curated interactive pathway for all of the interactions from the known regulators of ANGPTL8 and updated ...
  • Citrate cycle (TCA cycle), organism-specific biosystem (from KEGG)
    Citrate cycle (TCA cycle), organism-specific biosystemThe citrate cycle (TCA cycle, Krebs cycle) is an important aerobic pathway for the final steps of the oxidation of carbohydrates and fatty acids. The cycle starts with acetyl-CoA, the activated form ...
  • Citrate cycle (TCA cycle), conserved biosystem (from KEGG)
    Citrate cycle (TCA cycle), conserved biosystemThe citrate cycle (TCA cycle, Krebs cycle) is an important aerobic pathway for the final steps of the oxidation of carbohydrates and fatty acids. The cycle starts with acetyl-CoA, the activated form ...
  • Developmental Biology, organism-specific biosystem (from REACTOME)
    Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
  • Estrogen Receptor Pathway, organism-specific biosystem (from WikiPathways)
    Estrogen Receptor Pathway, organism-specific biosystemThe estrogen receptor is a nuclear receptor that is activated upon ligand binding and subsequently translocates to the nuclear. There, it activates transcription of target genes involved in essentia...
  • FOXA2 and FOXA3 transcription factor networks, organism-specific biosystem (from Pathway Interaction Database)
    FOXA2 and FOXA3 transcription factor networks, organism-specific biosystem
    FOXA2 and FOXA3 transcription factor networks
  • FoxO signaling pathway, organism-specific biosystem (from KEGG)
    FoxO signaling pathway, organism-specific biosystemThe forkhead box O (FOXO) family of transcription factors regulates the expression of genes in cellular physiological events including apoptosis, cell-cycle control, glucose metabolism, oxidative str...
  • Glucagon signaling pathway, organism-specific biosystem (from KEGG)
    Glucagon signaling pathway, organism-specific biosystemGlucagon is conventionally regarded as a counterregulatory hormone for insulin and plays a critical anti-hypoglycemic role by maintaining glucose homeostasis in both animals and humans. To increase ...
  • Glucagon signaling pathway, conserved biosystem (from KEGG)
    Glucagon signaling pathway, conserved biosystemGlucagon is conventionally regarded as a counterregulatory hormone for insulin and plays a critical anti-hypoglycemic role by maintaining glucose homeostasis in both animals and humans. To increase ...
  • 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 ...
  • 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 biosystemGlycolysis is the metabolic pathway that converts glucose C6H12O6, into pyruvate, CH3COCOO? + H+. The free energy released in this process is used to form the ATP and NADH. Gluconeogenesis is a metab...
  • Insulin resistance, organism-specific biosystem (from KEGG)
    Insulin resistance, organism-specific biosystemInsulin resistance is a condition where cells become resistant to the effects of insulin. It is often found in people with health disorders, including obesity, type 2 diabetes mellitus, non-alcoholic...
  • Insulin signaling pathway, organism-specific biosystem (from KEGG)
    Insulin signaling pathway, organism-specific biosystemInsulin binding to its receptor results in the tyrosine phosphorylation of insulin receptor substrates (IRS) by the insulin receptor tyrosine kinase (INSR). This allows association of IRSs with the r...
  • Insulin signaling pathway, conserved biosystem (from KEGG)
    Insulin signaling pathway, conserved biosystemInsulin binding to its receptor results in the tyrosine phosphorylation of insulin receptor substrates (IRS) by the insulin receptor tyrosine kinase (INSR). This allows association of IRSs with the r...
  • Metabolic pathways, organism-specific biosystem (from KEGG)
    Metabolic pathways, organism-specific biosystem
    Metabolic pathways
  • 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...
  • PI3K-Akt signaling pathway, organism-specific biosystem (from KEGG)
    PI3K-Akt signaling pathway, organism-specific biosystemThe phosphatidylinositol 3' -kinase(PI3K)-Akt signaling pathway is activated by many types of cellular stimuli or toxic insults and regulates fundamental cellular functions such as transcription, tra...
  • PI3K-Akt signaling pathway, conserved biosystem (from KEGG)
    PI3K-Akt signaling pathway, conserved biosystemThe phosphatidylinositol 3' -kinase(PI3K)-Akt signaling pathway is activated by many types of cellular stimuli or toxic insults and regulates fundamental cellular functions such as transcription, tra...
  • PPAR signaling pathway, organism-specific biosystem (from KEGG)
    PPAR signaling pathway, organism-specific biosystemPeroxisome proliferator-activated receptors (PPARs) are nuclear hormone receptors that are activated by fatty acids and their derivatives. PPAR has three subtypes (PPARalpha, beta/delta, and gamma) s...
  • PPAR signaling pathway, conserved biosystem (from KEGG)
    PPAR signaling pathway, conserved biosystemPeroxisome proliferator-activated receptors (PPARs) are nuclear hormone receptors that are activated by fatty acids and their derivatives. PPAR has three subtypes (PPARalpha, beta/delta, and gamma) s...
  • Proximal tubule bicarbonate reclamation, organism-specific biosystem (from KEGG)
    Proximal tubule bicarbonate reclamation, organism-specific biosystemOne of the major tasks of the renal proximal tubule (PT) is to secrete acid into the tubule lumen, thereby reabsorbing approximately 80% of the filtered bicarbonate (HCO3(-)), as well as generating "...
  • Proximal tubule bicarbonate reclamation, conserved biosystem (from KEGG)
    Proximal tubule bicarbonate reclamation, conserved biosystemOne of the major tasks of the renal proximal tubule (PT) is to secrete acid into the tubule lumen, thereby reabsorbing approximately 80% of the filtered bicarbonate (HCO3(-)), as well as generating "...
  • Pyruvate metabolism, organism-specific biosystem (from KEGG)
    Pyruvate metabolism, organism-specific biosystem
    Pyruvate metabolism
  • Pyruvate metabolism, conserved biosystem (from KEGG)
    Pyruvate metabolism, conserved biosystem
    Pyruvate metabolism
  • TCA Cycle and Deficiency of Pyruvate Dehydrogenase complex (PDHc), organism-specific biosystem (from WikiPathways)
    TCA Cycle and Deficiency of Pyruvate Dehydrogenase complex (PDHc), organism-specific biosystem
    TCA Cycle and Deficiency of Pyruvate Dehydrogenase complex (PDHc)
  • Transcriptional regulation of white adipocyte differentiation, organism-specific biosystem (from REACTOME)
    Transcriptional regulation of white adipocyte differentiation, organism-specific biosystemAdipogenesis is the process of cell differentiation by which preadipocytes become adipocytes. During this process the preadipocytes cease to proliferate, begin to accumulate lipid droplets and develo...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC22652

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GDP binding IEA
Inferred from Electronic Annotation
more info
 
GTP binding IDA
Inferred from Direct Assay
more info
PubMed 
carboxylic acid binding IDA
Inferred from Direct Assay
more info
PubMed 
magnesium ion binding IDA
Inferred from Direct Assay
more info
PubMed 
manganese ion binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
manganese ion binding IDA
Inferred from Direct Assay
more info
PubMed 
phosphoenolpyruvate carboxykinase (GTP) activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phosphoenolpyruvate carboxykinase (GTP) activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
phosphoenolpyruvate carboxykinase (GTP) activity ISS
Inferred from Sequence or Structural Similarity
more info
 
phosphoenolpyruvate carboxykinase (GTP) activity TAS
Traceable Author Statement
more info
 
Process Evidence Code Pubs
aging IEA
Inferred from Electronic Annotation
more info
 
cellular response to cAMP IEA
Inferred from Electronic Annotation
more info
 
cellular response to dexamethasone stimulus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cellular response to fructose stimulus IEA
Inferred from Electronic Annotation
more info
 
cellular response to glucagon stimulus IEA
Inferred from Electronic Annotation
more info
 
cellular response to glucose stimulus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cellular response to hypoxia IEA
Inferred from Electronic Annotation
more info
 
cellular response to insulin stimulus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cellular response to interleukin-1 IEA
Inferred from Electronic Annotation
more info
 
cellular response to potassium ion starvation IEA
Inferred from Electronic Annotation
more info
 
cellular response to retinoic acid IEA
Inferred from Electronic Annotation
more info
 
cellular response to tumor necrosis factor IEA
Inferred from Electronic Annotation
more info
 
gluconeogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
gluconeogenesis IEA
Inferred from Electronic Annotation
more info
 
gluconeogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
gluconeogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
gluconeogenesis TAS
Traceable Author Statement
more info
 
glucose homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
 
glucose metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
glycerol biosynthetic process from pyruvate IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
glycerol biosynthetic process from pyruvate ISS
Inferred from Sequence or Structural Similarity
more info
 
hepatocyte differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
internal protein amino acid acetylation IDA
Inferred from Direct Assay
more info
PubMed 
oxaloacetate metabolic process IEA
Inferred from Electronic Annotation
more info
 
positive regulation of transcription from RNA polymerase II promoter in response to acidic pH IEA
Inferred from Electronic Annotation
more info
 
propionate catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
pyruvate metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
response to activity IEA
Inferred from Electronic Annotation
more info
 
response to insulin IDA
Inferred from Direct Assay
more info
PubMed 
response to interleukin-6 IEA
Inferred from Electronic Annotation
more info
 
response to lipid IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
response to lipopolysaccharide IEA
Inferred from Electronic Annotation
more info
 
response to methionine IEA
Inferred from Electronic Annotation
more info
 
response to starvation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
phosphoenolpyruvate carboxykinase, cytosolic [GTP]
Names
PEP carboxykinase
phosphoenolpyruvate carboxykinase 1 (soluble)
phosphoenolpyruvate carboxykinase, cytosolic
phosphoenolpyruvate carboxylase
phosphopyruvate carboxylase
NP_002582.3
XP_024307656.1

NCBI Reference Sequences (RefSeq)

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_008205.1 RefSeqGene

    Range
    5001..10377
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_002591.3NP_002582.3  phosphoenolpyruvate carboxykinase, cytosolic [GTP]

    See identical proteins and their annotated locations for NP_002582.3

    Status: REVIEWED

    Source sequence(s)
    AW007566, BC023978, BJ993061, BM758256, DB187814
    Consensus CDS
    CCDS13460.1
    UniProtKB/Swiss-Prot
    P35558
    Related
    ENSP00000319814.4, OTTHUMP00000031374, ENST00000319441.5, OTTHUMT00000079851
    Conserved Domains (1) summary
    cd00819
    Location:27615
    PEPCK_GTP; Phosphoenolpyruvate carboxykinase (PEPCK), a critical gluconeogenic enzyme, catalyzes the first committed step in the diversion of tricarboxylic acid cycle intermediates toward gluconeogenesis. It catalyzes the reversible decarboxylation and ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p12 Primary Assembly

    Range
    57561081..57566461
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024451888.1XP_024307656.1  phosphoenolpyruvate carboxykinase, cytosolic [GTP] isoform X1

    Conserved Domains (1) summary
    cd00819
    Location:4483
    PEPCK_GTP; Phosphoenolpyruvate carboxykinase (PEPCK), a critical gluconeogenic enzyme, catalyzes the first committed step in the diversion of tricarboxylic acid cycle intermediates toward gluconeogenesis. It catalyzes the reversible decarboxylation and ...
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