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    PCK1 phosphoenolpyruvate carboxykinase 1 [ Homo sapiens (human) ]

    Gene ID: 5105, updated on 19-Jul-2021

    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
    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
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    Genomic context

    See PCK1 in Genome Data Viewer
    Location:
    20q13.31
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 20 NC_000020.11 (57561110..57568121)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (56136166..56143177)

    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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Genome-wide association study identifies a novel locus contributing to type 2 diabetes susceptibility in Sikhs of Punjabi origin from India.
    GeneReviews: Not available
    Phosphoenolpyruvate carboxykinase deficiency, cytosolic
    MedGen: CN078036 OMIM: 261680 GeneReviews: Not available
    Compare labs
    Preliminary evidence of genetic determinants of adiponectin response to fenofibrate in the Genetics of Lipid Lowering Drugs and Diet Network.
    GeneReviews: Not available

    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 PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC22652

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in aging IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to cAMP IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to dexamethasone stimulus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in cellular response to fructose stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to glucagon stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to glucose stimulus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in cellular response to glucose stimulus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cellular response to hypoxia IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to insulin stimulus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in cellular response to insulin stimulus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cellular response to interleukin-1 IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to potassium ion starvation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to retinoic acid IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to tumor necrosis factor IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in gluconeogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    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 glycerol biosynthetic process from pyruvate IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    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
    PubMed 
    involved_in oxaloacetate metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in peptidyl-serine phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of memory T cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of transcription from RNA polymerase II promoter in response to acidic pH IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in propionate catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in regulation of lipid biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in response to activity IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to insulin IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in response to interleukin-6 IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to lipid IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in response to lipopolysaccharide IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to methionine IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to starvation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Component Evidence Code Pubs
    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
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in extracellular exosome HDA PubMed 
    is_active_in 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
    serine-protein kinase PCK1
    NP_002582.3
    XP_024307656.1

    NCBI Reference Sequences (RefSeq)

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    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
      P35558
      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: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p13 Primary Assembly

      Range
      57561110..57568121
      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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