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Aliases for PCK1 Gene

Aliases for PCK1 Gene

  • Phosphoenolpyruvate Carboxykinase 1 (Soluble) 2 3
  • EC 4.1.1.32 4 63
  • 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 (Soluble)) is a Protein Coding gene. Diseases associated with PCK1 include phosphoenolpyruvate carboxykinase-1, cytosolic, deficiency and pepck 1 deficiency. Among its related pathways are PI3K-Akt signaling pathway and L1CAM interactions. 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

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

Genomics for PCK1 Gene

Regulatory Elements for PCK1 Gene

Genomic Location for PCK1 Gene

Start:
57,561,080 bp from pter
End:
57,568,112 bp from pter
Size:
7,033 bases
Orientation:
Plus strand

Genomic View for PCK1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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:
    P35558-PCKGC_HUMAN
    Recommended name:
    Phosphoenolpyruvate carboxykinase, cytosolic [GTP]
    Protein Accession:
    P35558
    Secondary Accessions:
    • A8K437
    • B4DT64
    • Q8TCA3
    • Q9UJD2

    Protein attributes for PCK1 Gene

    Size:
    622 amino acids
    Molecular mass:
    69195 Da
    Cofactor:
    Name=Mn(2+); Xref=ChEBI:CHEBI:29035; Note=Binds 1 Mn(2+) ion per subunit.;
    Quaternary structure:
    • Monomer.
    Miscellaneous:
    • 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

    UniProtKB/Swiss-Prot:

neXtProt entry for PCK1 Gene

Proteomics data for PCK1 Gene at MOPED

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:
Reactome Protein details:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for PCK1 (PCK1)

Domains for PCK1 Gene

Graphical View of Domain Structure for InterPro Entry

P35558

UniProtKB/Swiss-Prot:

PCKGC_HUMAN :
  • P35558
Family:
  • Belongs to the phosphoenolpyruvate carboxykinase [GTP] family.
genes like me logo Genes that share domains with PCK1: view

No data available for Gene Families for PCK1 Gene

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

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 --
GO:0004613 phosphoenolpyruvate carboxykinase (GTP) activity ISS --
GO:0005525 GTP binding IDA 11851336
GO:0017076 purine nucleotide binding --
genes like me logo Genes that share ontologies with PCK1: view
genes like me logo Genes that share phenotypes with PCK1: view

Animal Models for PCK1 Gene

MGI Knock Outs for PCK1:

No data available for miRNA , Transcription Factor Targeting and HOMER Transcription for PCK1 Gene

Localization for PCK1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PCK1 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PCK1 Gene COMPARTMENTS Subcellular localization image for PCK1 gene
Compartment Confidence
cytosol 4
chloroplast 3
golgi apparatus 3
mitochondrion 2
nucleus 2
vacuole 2

Gene Ontology (GO) - Cellular Components for PCK1 Gene

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

Pathways for PCK1 Gene

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

PCR Array Products

UniProtKB/Swiss-Prot P35558-PCKGC_HUMAN

  • Pathway: Carbohydrate biosynthesis; gluconeogenesis

Interacting Proteins for PCK1 Gene

Gene Ontology (GO) - Biological Process for PCK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process TAS --
GO:0006006 glucose metabolic process TAS --
GO:0006094 gluconeogenesis TAS --
GO:0006107 oxaloacetate metabolic process IEA --
GO:0006475 internal protein amino acid acetylation IDA 20167786
genes like me logo Genes that share ontologies with PCK1: view

Compounds for PCK1 Gene

(7) HMDB Compounds for PCK1 Gene

Compound Synonyms Cas Number PubMed IDs
Carbon dioxide
  • Carbon oxide
124-38-9
Guanosine diphosphate
  • 5'-GDP
146-91-8
Guanosine triphosphate
  • 5'-GTP
86-01-1
IDP
  • 5'-IDP
86-04-4
Inosine triphosphate
  • inosine 5'-(tetrahydrogen triphosphate)
132-06-9

(14) Novoseek inferred chemical compound relationships for PCK1 Gene

Compound -log(P) Hits PubMed IDs
phosphoenolpyruvate 93.7 59
glycerol 3-phosphate 69.1 2
gtp 64.8 10
pyruvate 58 3
fatty acid 41.1 5
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:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PCK1

Primer Products

Flow Cytometry 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: - - -
SP2:
SP3:
SP4:
SP5:

Relevant External Links for PCK1 Gene

GeneLoc Exon Structure for
PCK1
ECgene alternative splicing isoforms for
PCK1

Expression for PCK1 Gene

mRNA expression in normal human tissues 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 (29.5) and Kidney - Cortex (12.5).

Protein differential expression in normal tissues for PCK1 Gene

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

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for PCK1 Gene

SOURCE GeneReport for Unigene cluster for PCK1 Gene Hs.1872

mRNA Expression by UniProt/SwissProt for PCK1 Gene

P35558-PCKGC_HUMAN
Tissue specificity: Major sites of expression are liver, kidney and adipocytes
genes like me logo Genes that share expressions with PCK1: view

Expression partners for PCK1 Gene

In Situ Assay Products

Orthologs for PCK1 Gene

This gene was present in the common ancestor of animals.

Orthologs for PCK1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia PCK1 35
  • 84.19 (n)
  • 86.66 (a)
PCK1 36
  • 87 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PCK1 35
  • 87.3 (n)
  • 89.71 (a)
PEPCK 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pck1 35
  • 85.53 (n)
  • 90.84 (a)
Pck1 16
Pck1 36
  • 91 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PCK1 35
  • 99.04 (n)
  • 99.36 (a)
PCK1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pck1 35
  • 85.16 (n)
  • 90.84 (a)
oppossum
(Monodelphis domestica)
Mammalia PCK1 36
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PCK1 36
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves PCK1 35
  • 77.01 (n)
  • 83.76 (a)
PEPCK 36
  • 85 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PCK1 36
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pck1 35
  • 75.83 (n)
  • 80.71 (a)
African clawed frog
(Xenopus laevis)
Amphibia MGC68864 35
zebrafish
(Danio rerio)
Actinopterygii Dr.26132 35
pck1 35
  • 70.59 (n)
  • 73.75 (a)
pck1 36
  • 73 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG10924 37
  • 64 (a)
Pepck 37
  • 64 (a)
CG10924 35
  • 63.86 (n)
  • 64.34 (a)
CG10924 36
  • 62 (a)
ManyToMany
Pepck 36
  • 62 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea R11A5.4 37
  • 57 (a)
pck-1 36
  • 54 (a)
ManyToMany
pck-2 36
  • 54 (a)
ManyToMany
pck-3 36
  • 25 (a)
ManyToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5335 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10673 36
  • 66 (a)
OneToMany
Species with no ortholog for PCK1:
  • 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

ENSEMBL:
Gene Tree for PCK1 (if available)
TreeFam:
Gene Tree for PCK1 (if available)

Paralogs for PCK1 Gene

Paralogs for PCK1 Gene

Selected 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 MAF
rs707555 - 57,562,839(-) GCCCA(C/G)TGCTT missense, reference
rs1023049 -- 57,564,911(-) TTTGC(A/G)TTCAC intron-variant
rs1040566 -- 57,562,631(-) GCATT(G/T)TTTTC intron-variant
rs1042521 -- 57,561,480(+) AGCCT(A/G)CCCCA reference, synonymous-codon
rs1042523 -- 57,562,751(+) CTGTC(A/G)AAGAT reference, synonymous-codon

Relevant External Links for PCK1 Gene

HapMap Linkage Disequilibrium report
PCK1
Human Gene Mutation Database (HGMD)
PCK1

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

MalaCards: The human disease database.

Search for PCK1 Gene in MalaCards »

(2) Diseases for PCK1 Gene including...

(1) OMIM Diseases for PCK1 Gene (614168)

UniProtKB/Swiss-Prot

PCKGC_HUMAN
  • 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.

(2) Novoseek inferred disease relationships for PCK1 Gene

Disease -log(P) Hits PubMed IDs
niddm 39.9 11
insulin resistance 34.5 1

Relevant External Links for PCK1

Genetic Association Database (GAD)
PCK1
Human Genome Epidemiology (HuGE) Navigator
PCK1
genes like me logo Genes that share disorders with PCK1: view

No data available for University of Copenhagen DISEASES and Genatlas for PCK1 Gene

Publications for PCK1 Gene

  1. cDNA sequence and localization of polymorphic human cytosolic phosphoenolpyruvate carboxykinase gene (PCK1) to chromosome 20, band q13.31: PCK1 is not tightly linked to maturity-onset diabetes of the young. (PMID: 8490617) Stoffel M. … Bell G.I. (Hum. Mol. Genet. 1993) 3 4 23
  2. Crystal structure of human cytosolic phosphoenolpyruvate carboxykinase reveals a new GTP-binding site. (PMID: 11851336) Dunten P. … Wertheimer S.J. (J. Mol. Biol. 2002) 3 4 23
  3. The genes coding for phosphoenolpyruvate carboxykinase-1 (PCK1) and neuronal nicotinic acetylcholine receptor alpha 4 subunit (CHRNA4) map to human chromosome 20, extending the known region of homology with mouse chromosome 2. (PMID: 1492743) Pilz A.J. … Abbott C.M. (Ann. Hum. Genet. 1992) 2 3 23
  4. Promoter polymorphism in PCK1 (phosphoenolpyruvate carboxykinase gene) associated with type 2 diabetes mellitus. (PMID: 14764811) Cao H. … Hegele R.A. (J. Clin. Endocrinol. Metab. 2004) 3 23 48
  5. Large-scale study of the -232C > G polymorphism of PCK1 in Type 2 diabetes. (PMID: 16978381) Wegner L. … Pedersen O. (Diabet. Med. 2006) 3 23 48

Products for PCK1 Gene

Sources for PCK1 Gene

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