U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination
    • Showing Current items.

    PCK1 phosphoenolpyruvate carboxykinase 1 [ Homo sapiens (human) ]

    Gene ID: 5105, updated on 5-Jul-2025
    Official Symbol
    PCK1provided by HGNC
    Official Full Name
    phosphoenolpyruvate carboxykinase 1provided by HGNC
    Primary source
    HGNC:HGNC:8724
    See related
    Ensembl:ENSG00000124253 MIM:614168; AllianceGenome:HGNC:8724
    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
    NEW
    Try the new Gene table
    Try the new Transcript table
    See PCK1 in Genome Data Viewer
    Location:
    20q13.31
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (57561110..57568121)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (59338907..59345912)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (56136166..56143177)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124904940 Neighboring gene uncharacterized LOC124904941 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:56143743-56144243 Neighboring gene Sharpr-MPRA regulatory region 2062 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:56165049-56165804 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13064 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:56172128-56172301 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:56193035-56193894 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18165 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18166 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18167 Neighboring gene Z-DNA binding protein 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13065 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:56229759-56230358 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:56230359-56230956 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18168 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:56236773-56237645 Neighboring gene prostate transmembrane protein, androgen induced 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:56238905-56239419 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:56241925-56242541 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:56251833-56252416 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:56253071-56253587 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:56253588-56254103 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:56254668-56255192 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:56255193-56255716 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18170 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18171 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18172 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:56257022-56257522 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:56267863-56268682 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:56271371-56271903 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr20:56272784-56273983 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:56279768-56280362 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:56283453-56284064 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13066 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13067 Neighboring gene NF-kappaB interacting lncRNA

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Associated conditions

    Description Tests
    Phosphoenolpyruvate carboxykinase deficiency, cytosolic
    MedGen: C5574905 OMIM: 261680 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

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

    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

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Clone Names

    • MGC22652

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTP binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables GTP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables carboxy-lyase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables carboxylic acid binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables lyase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables magnesium ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables manganese ion binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables manganese ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables manganese ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables nucleotide binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables phosphoenolpyruvate carboxykinase (GTP) activity EXP
    Inferred from Experiment
    more info
    PubMed 
    enables phosphoenolpyruvate carboxykinase (GTP) activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables phosphoenolpyruvate carboxykinase (GTP) activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables phosphoenolpyruvate carboxykinase (GTP) activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables phosphoenolpyruvate carboxykinase (GTP) activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables phosphoenolpyruvate carboxykinase (GTP) activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables phosphoenolpyruvate carboxykinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein serine kinase activity (using GTP as donor) IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein serine kinase activity (using GTP as donor) IEA
    Inferred from Electronic Annotation
    more info
     
    enables purine nucleotide binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables transferase activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    acts_upstream_of_or_within NLS-bearing protein import into nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within NLS-bearing protein import into nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    acts_upstream_of_or_within SREBP-SCAP complex retention in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cellular response to dexamethasone stimulus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cellular response to glucose stimulus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cellular response to glucose stimulus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cellular response to insulin stimulus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cellular response to insulin stimulus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within cellular response to potassium ion starvation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in dicarboxylic acid metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in gluconeogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in gluconeogenesis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within gluconeogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in gluconeogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in gluconeogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in gluconeogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in gluconeogenesis TAS
    Traceable Author Statement
    more info
     
    involved_in glucose homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in glucose metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in glyceraldehyde-3-phosphate biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in glycerol biosynthetic process from pyruvate IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within glycerol biosynthetic process from pyruvate IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in glycerol biosynthetic process from pyruvate ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in hepatocyte differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within lipid metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in oxaloacetate metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in oxaloacetate metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in oxaloacetate metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in peptidyl-serine phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within positive regulation of cholesterol biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of lipid biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of memory T cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of memory T cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in propionate catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within protein maturation EXP
    Inferred from Experiment
    more info
    PubMed 
    acts_upstream_of_or_within protein maturation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within protein maturation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of lipid biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within response to bacterium IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to insulin IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in response to starvation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in tricarboxylic acid metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
     
    located_in extracellular exosome HDA PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Preferred Names
    phosphoenolpyruvate carboxykinase, cytosolic [GTP]
    Names
    PEP carboxykinase
    phosphoenolpyruvate carboxykinase 1 (soluble)
    phosphoenolpyruvate carboxykinase, cytosolic
    phosphoenolpyruvate carboxylase
    phosphopyruvate carboxylase
    serine-protein kinase PCK1
    NP_002582.3
    XP_024307656.1
    XP_054179443.1

    NEW Try the new Transcript table

    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
      5030..12041
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_002591.4NP_002582.3  phosphoenolpyruvate carboxykinase, cytosolic [GTP]

      See identical proteins and their annotated locations for NP_002582.3

      Status: REVIEWED

      Source sequence(s)
      AL035541, AW007566, BC023978, BJ993061, BM758256, DB187814
      Consensus CDS
      CCDS13460.1
      UniProtKB/Swiss-Prot
      A8K437, B4DT64, P35558, Q8TCA3, Q9UJD2
      Related
      ENSP00000319814.4, ENST00000319441.6
      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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      57561110..57568121
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024451888.2XP_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 ...

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      59338907..59345912
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054323468.1XP_054179443.1  phosphoenolpyruvate carboxykinase, cytosolic [GTP] isoform X1