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Aliases for PCK1 Gene

Aliases for PCK1 Gene

  • Phosphoenolpyruvate Carboxykinase 1 2 3 5
  • Phosphoenolpyruvate Carboxykinase 1 (Soluble) 2 3
  • EC 4 58
  • PEPCK-C 3 4
  • PEPCK1 3 4
  • Phosphoenolpyruvate Carboxykinase, Cytosolic [GTP] 3
  • Phosphoenolpyruvate Carboxykinase, Cytosolic 3
  • Phosphoenolpyruvate Carboxylase 3
  • Phosphopyruvate Carboxylase 3
  • PEP Carboxykinase 3
  • PEPCKC 3

External Ids for PCK1 Gene

Previous GeneCards Identifiers for PCK1 Gene

  • GC20P055864
  • GC20P056774
  • GC20P056821
  • GC20P055569
  • GC20P056136
  • GC20P052917

Summaries for PCK1 Gene

Entrez Gene Summary for PCK1 Gene

  • 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]

GeneCards Summary for PCK1 Gene

PCK1 (Phosphoenolpyruvate Carboxykinase 1) is a Protein Coding gene. Diseases associated with PCK1 include Pepck 1 Deficiency and Phosphoenolpyruvate Carboxykinase-1, Cytosolic, Deficiency. Among its related pathways are Abacavir transport and metabolism and Citrate cycle (TCA cycle). GO annotations related to this gene include GTP binding and GDP binding. An important paralog of this gene is PCK2.

UniProtKB/Swiss-Prot for PCK1 Gene

  • Catalyzes the conversion of oxaloacetate (OAA) to phosphoenolpyruvate (PEP), the rate-limiting step in the metabolic pathway that produces glucose from lactate and other precursors derived from the citric acid cycle.

Gene Wiki entry for PCK1 Gene

Additional gene information for PCK1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PCK1 Gene

Genomics for PCK1 Gene

Regulatory Elements for PCK1 Gene

Enhancers for PCK1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH20H057536 1 ENCODE dbSUPER 17.9 -23.7 -23717 2.4 SIX4 ARNT TAL1 RAD21 CHAMP1 YY1 TCF12 CBX5 NCOR1 ZSCAN5C PCK1 RBM38 LOC100291105 ANKRD60 CTCFL
GH20H057495 1.4 Ensembl ENCODE dbSUPER 10.3 -65.8 -65801 0.6 HDAC1 ELF3 PKNOX1 RB1 ARNT SIN3A ZBTB40 ZSCAN9 RAD21 ZEB1 LOC100291105 RBM38 MTND1P9 MTRNR2L3 RAE1 CTCFL PCK1 HMGB1P1
GH20H057531 1.1 ENCODE dbSUPER 12.1 -28.7 -28729 1.1 FOXA2 ATF1 SAP130 MAX CEBPG RAD21 RARA YY1 TEAD3 CTBP1 PCK1 ANKRD60 CTCFL
GH20H057498 1.2 Ensembl ENCODE dbSUPER 10.3 -62.4 -62380 0.6 CTCF RB1 SIN3A EBF1 RAD21 GLIS2 EED ZNF143 SMC3 IKZF2 LOC100291105 RBM38 MTRNR2L3 RAE1 MTND1P9 CTCFL PCK1 HMGB1P1
GH20H058179 1.1 Ensembl ENCODE 10.5 +618.6 618594 1.1 RB1 NFIB SIN3A ZNF2 ZBTB7B RAD21 GLIS2 EGR1 ZNF143 EGR2 PCK1 ANKRD60 CTCFL LOC105372694 C20orf85
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PCK1 on UCSC Golden Path with GeneCards custom track

Genomic Locations for PCK1 Gene

Genomic Locations for PCK1 Gene
7,033 bases
Plus strand

Genomic View for PCK1 Gene

Genes around PCK1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PCK1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PCK1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PCK1 Gene

Proteins for PCK1 Gene

  • Protein details for PCK1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Phosphoenolpyruvate carboxykinase, cytosolic [GTP]
    Protein Accession:
    Secondary Accessions:
    • A8K437
    • B4DT64
    • Q8TCA3
    • Q9UJD2

    Protein attributes for PCK1 Gene

    622 amino acids
    Molecular mass:
    69195 Da
    Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    • Monomer.
    • In eukaryotes there are two isozymes: a cytoplasmic one and a mitochondrial one.

    Three dimensional structures from OCA and Proteopedia for PCK1 Gene

    Alternative splice isoforms for PCK1 Gene


neXtProt entry for PCK1 Gene

Selected DME Specific Peptides for PCK1 Gene


Post-translational modifications for PCK1 Gene

  • Lysine acetylation by p300/EP300 is increased on high glucose conditions and promotes ubiquitination by UBR5, acetylation is enhanced in the presence of BAG6. Deacetylated by SIRT2.
  • Ubiquitination by UBR5 leads to proteasomal degradation.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PCK1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for PCK1 Gene

Gene Families for PCK1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the phosphoenolpyruvate carboxykinase [GTP] family.
  • Belongs to the phosphoenolpyruvate carboxykinase [GTP] family.
genes like me logo Genes that share domains with PCK1: view

Function for PCK1 Gene

Molecular function for PCK1 Gene

GENATLAS Biochemistry:
phosphoenolpyruvate carboxykinase 1,cytoplasmic,gluconeogenesis,energy pathway,mainly expressed in liver,kidney,adipocytes
UniProtKB/Swiss-Prot CatalyticActivity:
GTP + oxaloacetate = GDP + phosphoenolpyruvate + CO(2).
UniProtKB/Swiss-Prot EnzymeRegulation:
Enzyme activity is enhanced by acetylation.
UniProtKB/Swiss-Prot Function:
Catalyzes the conversion of oxaloacetate (OAA) to phosphoenolpyruvate (PEP), the rate-limiting step in the metabolic pathway that produces glucose from lactate and other precursors derived from the citric acid cycle.
UniProtKB/Swiss-Prot Induction:
Regulated by cAMP and insulin.

Enzyme Numbers (IUBMB) for PCK1 Gene

Phenotypes From GWAS Catalog for PCK1 Gene

Gene Ontology (GO) - Molecular Function for PCK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000287 magnesium ion binding IDA 11851336
GO:0004611 phosphoenolpyruvate carboxykinase activity IEA --
GO:0004613 phosphoenolpyruvate carboxykinase (GTP) activity TAS --
GO:0005525 GTP binding IDA 11851336
GO:0016829 lyase activity IEA --
genes like me logo Genes that share ontologies with PCK1: view
genes like me logo Genes that share phenotypes with PCK1: view

Human Phenotype Ontology for PCK1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PCK1 Gene

MGI Knock Outs for PCK1:

Clone Products

No data available for Transcription Factor Targets and HOMER Transcription for PCK1 Gene

Localization for PCK1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PCK1 Gene


Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PCK1 gene
Compartment Confidence
extracellular 5
cytosol 5
nucleus 3
mitochondrion 2
peroxisome 2

Gene Ontology (GO) - Cellular Components for PCK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm ISS,IEA --
GO:0005829 cytosol TAS,IEA --
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with PCK1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for PCK1 Gene

Pathways & Interactions for PCK1 Gene

genes like me logo Genes that share pathways with PCK1: view

UniProtKB/Swiss-Prot P35558-PCKGC_HUMAN

  • Pathway: Carbohydrate biosynthesis; gluconeogenesis.

SIGNOR curated interactions for PCK1 Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for PCK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006006 glucose metabolic process IMP,IEA 14764811
GO:0006094 gluconeogenesis ISS,TAS --
GO:0006107 oxaloacetate metabolic process IEA --
GO:0006475 internal protein amino acid acetylation IDA 20167786
GO:0006629 lipid metabolic process IEA --
genes like me logo Genes that share ontologies with PCK1: view

Drugs & Compounds for PCK1 Gene

(13) Drugs for PCK1 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Carbon dioxide Approved, Vet_approved Pharma 0
phosphoenolpyruvate Experimental Pharma Target 0
1-(2-Fluorobenzyl)-3-Butyl-8-(N-Acetyl-4-Aminobenzyl)-Xanthine Experimental Pharma Target 0
1-Allyl-3-Butyl-8-(N-Acetyl-4-Aminobenzyl)-Xanthine Experimental Pharma Target 0
Phosphomethylphosphonic Acid-Guanylate Ester Experimental Pharma Target 0

(10) Additional Compounds for PCK1 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • 5'-IDP
  • IDP
  • Inosine 5'-(trihydrogen diphosphate)
  • Inosine 5'-(trihydrogen pyrophosphate)
  • Inosine 5'-diphosphate
inosine triphosphate
  • 2'-Inosine-5'-triphosphate
  • 5'-ITP
  • 5-ITP
  • Inosine 5
  • Inosine 5'-(tetrahydrogen triphosphate)
Oxalacetic acid
  • 2-Ketosuccinate
  • 2-Ketosuccinic acid
  • 2-Oxobutanedioate
  • 2-Oxobutanedioic acid
  • 2-Oxosuccinate
genes like me logo Genes that share compounds with PCK1: view

Transcripts for PCK1 Gene

Unigene Clusters for PCK1 Gene

Phosphoenolpyruvate carboxykinase 1 (soluble):
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PCK1 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9 ^ 10a · 10b · 10c
SP1: - - -

Relevant External Links for PCK1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for PCK1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PCK1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PCK1 Gene

This gene is overexpressed in Liver (x29.5) and Kidney - Cortex (x12.5).

Protein differential expression in normal tissues from HIPED for PCK1 Gene

This gene is overexpressed in Kidney (27.4), Gallbladder (24.9), and Liver (8.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for PCK1 Gene

Protein tissue co-expression partners for PCK1 Gene

NURSA nuclear receptor signaling pathways regulating expression of PCK1 Gene:


SOURCE GeneReport for Unigene cluster for PCK1 Gene:


mRNA Expression by UniProt/SwissProt for PCK1 Gene:

Tissue specificity: Major sites of expression are liver, kidney and adipocytes.

Evidence on tissue expression from TISSUES for PCK1 Gene

  • Kidney(4.8)
  • Liver(4.8)
  • Intestine(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PCK1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • urinary
Head and neck:
  • brain
  • cranial nerve
  • ear
  • eye
  • head
  • heart
  • lung
  • adrenal gland
  • kidney
  • liver
  • peripheral nerve
  • peripheral nervous system
  • skin
  • sweat gland
genes like me logo Genes that share expression patterns with PCK1: view

Orthologs for PCK1 Gene

This gene was present in the common ancestor of animals.

Orthologs for PCK1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia PCK1 33 34
  • 99.04 (n)
(Canis familiaris)
Mammalia PEPCK 34
  • 90 (a)
PCK1 33
  • 87.3 (n)
(Monodelphis domestica)
Mammalia PCK1 34
  • 87 (a)
(Mus musculus)
Mammalia Pck1 33 16 34
  • 85.53 (n)
(Rattus norvegicus)
Mammalia Pck1 33
  • 85.16 (n)
(Bos Taurus)
Mammalia PCK1 33 34
  • 84.19 (n)
(Ornithorhynchus anatinus)
Mammalia PCK1 34
  • 77 (a)
(Gallus gallus)
Aves PEPCK 34
  • 85 (a)
PCK1 33
  • 77.01 (n)
(Anolis carolinensis)
Reptilia PCK1 34
  • 80 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia pck1 33
  • 75.83 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC68864 33
(Danio rerio)
Actinopterygii pck1 33 34
  • 70.59 (n)
Dr.26132 33
fruit fly
(Drosophila melanogaster)
Insecta Pepck 35 34
  • 64 (a)
CG10924 35 33 34
  • 63.86 (n)
(Caenorhabditis elegans)
Secernentea R11A5.4 35
  • 57 (a)
pck-1 34
  • 54 (a)
pck-2 34
  • 54 (a)
pck-3 34
  • 25 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10673 34
  • 66 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5335 33
Species where no ortholog for PCK1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PCK1 Gene

Gene Tree for PCK1 (if available)
Gene Tree for PCK1 (if available)

Paralogs for PCK1 Gene

Paralogs for PCK1 Gene

(1) SIMAP similar genes for PCK1 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with PCK1: view

Variants for PCK1 Gene

Sequence variations from dbSNP and Humsavar for PCK1 Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type
rs11552145 Likely benign 57,563,592(+) AGGGT(A/G)AGAAG reference, missense
rs115841045 Likely benign 57,565,609(+) TACAT(A/C/T)CCCAA reference, synonymous-codon
rs1804160 Likely benign 57,564,309(+) GGGGC(A/G)TTTAC reference, missense
rs28359544 Likely benign 57,563,122(+) GGGTA(C/T)GGCGG reference, synonymous-codon
rs28359547 Likely benign 57,563,639(+) AAGAC(A/C/T)AACCT reference, synonymous-codon

Variation tolerance for PCK1 Gene

Residual Variation Intolerance Score: 57.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.09; 69.04% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PCK1 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for PCK1 Gene

Disorders for PCK1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for PCK1 Gene - From: HGMD, OMIM, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
pepck 1 deficiency
  • pep carboxykinase deficiency
phosphoenolpyruvate carboxykinase-1, cytosolic, deficiency
  • phosphoenolpyruvate carboxykinase deficiency
hypotrichosis 8
  • woolly hair, autosomal recessive 1, with or without hypotrichosis
maturity-onset diabetes of the young
  • mason-type diabetes
diabetes mellitus, noninsulin-dependent
  • diabetes, type 2
- elite association - COSMIC cancer census association via MalaCards
Search PCK1 in MalaCards View complete list of genes associated with diseases


  • Cytosolic phosphoenolpyruvate carboxykinase deficiency (C-PEPCKD) [MIM:261680]: Metabolic disorder resulting from impaired gluconeogenesis. It is a rare disease with less than 10 cases reported in the literature. Clinical characteristics include hypotonia, hepatomegaly, failure to thrive, lactic acidosis and hypoglycemia. Autopsy reveals fatty infiltration of both the liver and kidneys. The disorder is transmitted as an autosomal recessive trait. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for PCK1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with PCK1: view

No data available for Genatlas for PCK1 Gene

Publications for PCK1 Gene

  1. A Leu184Val polymorphism in PCK1 gene is associated with type 2 diabetes in Eastern Chinese population with BMI<23 kg/m2. (PMID: 19070910) Dong Y … Su Q (Diabetes research and clinical practice 2009) 3 22 45 60
  2. The promoter polymorphism -232C/G of the PCK1 gene is associated with type 2 diabetes in a UK-resident South Asian population. (PMID: 19725958) Rees SD … Kelly MA (BMC medical genetics 2009) 3 22 45 60
  3. The estrogen hypothesis of schizophrenia implicates glucose metabolism: association study in three independent samples. (PMID: 18460190) Olsen L … Werge T (BMC medical genetics 2008) 3 22 45 60
  4. Association of the promoter polymorphism -232C/G of the phosphoenolpyruvate carboxykinase gene (PCK1) with Type 2 diabetes mellitus. (PMID: 16620271) Gouni-Berthold I … Krone W (Diabetic medicine : a journal of the British Diabetic Association 2006) 3 22 45 60
  5. Large-scale study of the -232C > G polymorphism of PCK1 in Type 2 diabetes. (PMID: 16978381) Wegner L … Pedersen O (Diabetic medicine : a journal of the British Diabetic Association 2006) 3 22 45 60

Products for PCK1 Gene

Sources for PCK1 Gene

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