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PCK1 phosphoenolpyruvate carboxykinase 1 [ Homo sapiens (human) ]

Gene ID: 5105, updated on 5-Mar-2024

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; 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
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Genomic context

See PCK1 in Genome Data Viewer
Location:
20q13.31
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (57561110..57568121)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (59338907..59345912)
105.20220307 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

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
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

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

Clone Names

  • MGC22652

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables GDP binding IEA
Inferred from Electronic Annotation
more info
 
enables GTP binding IDA
Inferred from Direct Assay
more info
PubMed 
enables carboxylic acid binding IDA
Inferred from Direct Assay
more info
PubMed 
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 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 IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables phosphoenolpyruvate carboxykinase (GTP) activity ISS
Inferred from Sequence or Structural Similarity
more info
 
enables protein serine kinase activity (using GTP as donor) IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
involved_in cellular hyperosmotic salinity response IEA
Inferred from Electronic Annotation
more info
 
involved_in cellular hypotonic salinity response 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
 
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
 
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
 
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 phorbol 13-acetate 12-myristate 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 raffinose 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
 
involved_in gluconeogenesis IDA
Inferred from Direct Assay
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 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
 
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
 
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 peptidyl-serine phosphorylation 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 ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in 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
 
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 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
 
involved_in tricarboxylic acid metabolic process IDA
Inferred from Direct Assay
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
 
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 

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
XP_054179443.1

NCBI Reference Sequences (RefSeq)

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_2023_10

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