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Aliases for PCK1 Gene

Aliases for PCK1 Gene

  • Phosphoenolpyruvate Carboxykinase 1 2 3 5
  • Phosphoenolpyruvate Carboxykinase, Cytosolic [GTP] 3 4
  • Phosphoenolpyruvate Carboxykinase 1 (Soluble) 2 3
  • EC 4.1.1.32 4 56
  • PEPCK-C 3 4
  • PEPCK1 3 4
  • Phosphoenolpyruvate Carboxykinase, Cytosolic 3
  • Phosphoenolpyruvate Carboxylase 3
  • Phosphopyruvate Carboxylase 3
  • PEP Carboxykinase 3
  • PEPCKC 3
  • PCKDC 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 Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic and Pepck 1 Deficiency. Among its related pathways are Adipogenesis and Amino Acid metabolism. Gene Ontology (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

  • Regulates cataplerosis and anaplerosis, the processes that control the levels of metabolic intermediates in the citric acid cycle. At low glucose levels, it catalyzes the cataplerotic 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. At high glucose levels, it catalyzes the anaplerotic conversion of phosphoenolpyruvate to oxaloacetate.

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

GeneHancer (GH) Regulatory Elements for PCK1 Gene

Promoters and enhancers for PCK1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH20J057558 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 605.5 -0.8 -768 4 ELF3 MNT CBFA2T2 CEBPG RERE ZNF24 TFE3 TRIM24 SP7 SP1 PCK1 CTCFL
GH20J057482 Promoter/Enhancer 1.8 EPDnew FANTOM5 ENCODE dbSUPER 600.2 -77.7 -77681 1 SP1 ZNF687 RELA CREM MLLT1 ZBED1 IKZF1 BACH1 IKZF2 ZNF143 PCK1 ENSG00000218018 RBM38 HMGB1P1 LOC105372688
GH20J057562 Enhancer 0.7 Ensembl dbSUPER 600.7 +1.4 1421 0.2 ZBTB33 POLR2A ZGPAT HNF4A SSRP1 ATF3 EGR1 PCK1 LOC105372690
GH20J057531 Enhancer 1.3 Ensembl ENCODE dbSUPER 18.8 -25.5 -25491 7.6 MTA3 ZNF652 ELF3 CBFA2T2 MLLT1 CEBPG TRIM24 SP1 PPARG PRDM1 PCK1 PPP4R1L ENSG00000218018 RBM38 ANKRD60 CTCFL
GH20J057809 Enhancer 1.2 Ensembl ENCODE dbSUPER 10.4 +249.6 249620 2.6 MYC FOSL2 CREB1 CEBPG YBX1 ZIC2 CTBP1 GTF2F1 CEBPB SP1 PMEPA1 PCK1 ENSG00000263453 LOC105372692
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PCK1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PCK1 gene promoter:
  • CREB
  • deltaCREB
  • E47
  • Hand1
  • IRF-1
  • NF-kappaB
  • NF-kappaB1
  • Olf-1
  • Pax-4a
  • RelA

Genomic Locations for PCK1 Gene

Genomic Locations for PCK1 Gene
chr20:57,561,080-57,568,121
(GRCh38/hg38)
Size:
7,042 bases
Orientation:
Plus strand
chr20:56,136,136-56,141,513
(GRCh37/hg19)
Size:
5,378 bases
Orientation:
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:
    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;
    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

Selected DME Specific Peptides for PCK1 Gene

P35558:
  • FTNVAETSDGGVYWEGID
  • KYDNCWLA
  • AHPNSRF
  • PFSMGPLGS
  • WPGFGEN
  • ISKEFWE
  • IEGIIFG
  • IGIELTDSPYV
  • KCLHSVG
  • VPLVYEA
  • CDGSEEE
  • FLWPGFG
  • YVIPFSMGP
  • TDSPYVV
  • FPSACGKTN
  • GWLAEHMLIL
  • FGVAPGT
  • NSRFCTP
  • FGGRRPAGVPL
  • GDDIAWM
  • VNWFRKD
  • IIFGGRR
  • SPEGVPIE
  • YVVASMRIM
  • GSGYGGN
  • EQRDTVPIPK
  • LRAINPE
  • PLVYEALSW
  • MRIMTRMG
  • LLGKKCFALR
  • MKGRTMY

Post-translational modifications for PCK1 Gene

  • Acetylated. Lysine acetylation by p300/EP300 is increased on high glucose conditions (PubMed:20167786, PubMed:21726808, PubMed:30193097). Lysine acetylation promotes ubiquitination by UBR5 (PubMed:21726808). Acetylation is enhanced in the presence of BAG6. Deacetylated by SIRT2. Deacetylation of Lys-91 is carried out by SIRT1 and depends on PCK1 phosphorylation levels (PubMed:30193097).
  • Phosphorylated in a GSK3B-mediated pathway; phosphorylation affects the efficiency of SIRT1-mediated deacetylation, and regulates PCK1 ubiquitination and degradation.
  • 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

Suggested Antigen Peptide Sequences for PCK1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ50205, highly similar to Phosphoenolpyruvate carboxykinase, cytosolic (GTP) (EC 4.1.1.32) (B4DT64_HUMAN)
  • Phosphoenolpyruvate carboxylase (PCKGC_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P35558

UniProtKB/Swiss-Prot:

PCKGC_HUMAN :
  • Belongs to the phosphoenolpyruvate carboxykinase [GTP] family.
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

UniProtKB/Swiss-Prot Function:
Regulates cataplerosis and anaplerosis, the processes that control the levels of metabolic intermediates in the citric acid cycle. At low glucose levels, it catalyzes the cataplerotic 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. At high glucose levels, it catalyzes the anaplerotic conversion of phosphoenolpyruvate to oxaloacetate.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=GTP + oxaloacetate = CO2 + GDP + phosphoenolpyruvate; Xref=Rhea:RHEA:10388, ChEBI:CHEBI:16452, ChEBI:CHEBI:16526, ChEBI:CHEBI:37565, ChEBI:CHEBI:58189, ChEBI:CHEBI:58702; EC=4.1.1.32; Evidence={ECO:0000269 PubMed:24863970, ECO:0000269 PubMed:26971250, ECO:0000269 PubMed:28216384, ECO:0000269 PubMed:30193097}; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:10389; Evidence=. ; PhysiologicalDirection=right-to-left; Xref=Rhea:RHEA:10390; Evidence=. ;.
UniProtKB/Swiss-Prot EnzymeRegulation:
Enzyme activity is regulated by acetylation and glucose levels (PubMed:30193097, PubMed:20167786). The anaplerotic conversion of phosphoenolpyruvate to oxaloacetate is improved by PCK1 acetylation on Lys-91 (K91ac), Lys-473 (K473ac) and Lys-521 (K521ac) (By similarity). High glucose concentrations favor PCK1 anaplerotic activity by triggering acetylation on Lys-91 (K91ac). At low glucose levels, SIRT1-mediated deacetylation of Lys-91 promotes the cataplerotic conversion of oxaloacetate to phosphoenolpyruvate (PubMed:30193097).
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=35 uM for oxaloacetate (for the enzyme purified from cells exposed to 10mM glucose) {ECO:0000269 PubMed:30193097}; KM=46 uM for oxaloacetate (for the enzyme purified from cells exposed to 15mM glucose) {ECO:0000269 PubMed:30193097}; KM=170 uM for GTP (for the enzyme purified from cells exposed to 10mM glucose) {ECO:0000269 PubMed:30193097}; KM=151 uM for GTP (for the enzyme purified from cells exposed to 15mM glucose) {ECO:0000269 PubMed:30193097}; KM=208 uM for phosphoenolpyruvate (for the enzyme purified from cells exposed to 10mM glucose) {ECO:0000269 PubMed:30193097}; KM=87 uM for phosphoenolpyruvate (for the enzyme purified from cells exposed to 15mM glucose) {ECO:0000269 PubMed:30193097}; KM=63 uM for GDP (for the enzyme purified from cells exposed to 10mM glucose) {ECO:0000269 PubMed:30193097}; KM=29 uM for GDP (for the enzyme purified from cells exposed to 15mM glucose) {ECO:0000269 PubMed:30193097}; Note=Kcat is 33 sec(-1) with oxaloacetate as substrate (for the enzyme purified from cells exposed to 10mM glucose). Kcat is 21 sec(-1) with oxaloacetate as substrate (for the enzyme purified from cells exposed to 15mM glucose). Kcat is 17 sec(-1) with phosphoenolpyruvate as substrate (for the enzyme purified from cells exposed to 10mM glucose). Kcat is 11 sec(-1)with phosphoenolpyruvate as substrate (for the enzyme purified from cells exposed to 15mM glucose). Kcat is 40 sec(-1) with GTP as substrate (for the enzyme purified from cells exposed to 10mM glucose). Kcat is 22 sec(-1) with GTP as substrate (for the enzyme purified from cells exposed to 15mM glucose). Kcat is 16 sec(-1) with GDP as substrate (for the enzyme purified from cells exposed to 10mM glucose). Kcat is 11 sec(-1) with GDP as substrate (for the enzyme purified from cells exposed to 15mM glucose). {ECO:0000269 PubMed:30193097};
UniProtKB/Swiss-Prot Induction:
Regulated by cAMP and insulin.
GENATLAS Biochemistry:
phosphoenolpyruvate carboxykinase 1,cytoplasmic,gluconeogenesis,energy pathway,mainly expressed in liver,kidney,adipocytes

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:

Animal Model Products

CRISPR Products

Clone Products

  • Applied Biological Materials (abm): Clones for PCK1 - Now 50% OFF >
  • * PCK1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * PCK1 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

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

Cytoplasm.

Subcellular locations from

COMPARTMENTS
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
mitochondrion 4
cytosol 4
nucleus 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for PCK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,ISS --
GO:0005739 mitochondrion IBA 21873635
GO:0005829 cytosol TAS,IEA --
GO:0070062 extracellular exosome HDA 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:0006090 pyruvate metabolic process IBA 21873635
GO:0006094 gluconeogenesis ISS,TAS --
GO:0006107 oxaloacetate metabolic process IDA 30193097
GO:0006475 internal protein amino acid acetylation IDA 20167786
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, Investigational, 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
Mersalyl Experimental Pharma Enzyme, inhibitor 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
IDP
  • 5'-IDP
  • Inosine 5'-(trihydrogen diphosphate)
  • Inosine 5'-(trihydrogen pyrophosphate)
  • Inosine 5'-diphosphate
  • Inosine 5'-pyrophosphate
86-04-4
inosine triphosphate
  • 2'-Inosine-5'-triphosphate
  • Inosine 5'-triphosphate
  • Inosine tripolyphosphate
  • O(5')-(Tetrahydroxytriphosphoryl)inosine
  • 2'-Inosine-5'-triphosphoric acid
132-06-9
Oxalacetic acid
  • 2-Oxobutanedioic acid
  • 2-Oxosuccinic acid
  • 3-Carboxy-3-oxopropanoic acid
  • keto-Succinic acid
  • Ketosuccinic acid
328-42-7
genes like me logo Genes that share compounds with PCK1: view

Transcripts for PCK1 Gene

mRNA/cDNA for PCK1 Gene

Unigene Clusters for PCK1 Gene

Phosphoenolpyruvate carboxykinase 1 (soluble):
Representative Sequences:

CRISPR Products

Clone Products

  • Applied Biological Materials (abm): Clones for PCK1 - Now 50% OFF >
  • * PCK1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * PCK1 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

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 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 and MOPED for PCK1 Gene



Protein tissue co-expression partners for PCK1 Gene

NURSA nuclear receptor signaling pathways regulating expression of PCK1 Gene:

PCK1

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.

Evidence on tissue expression from TISSUES for PCK1 Gene

  • Kidney(4.8)
  • Liver(4.8)
  • Intestine(2.2)

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

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • urinary
Regions:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • eye
  • head
Thorax:
  • heart
  • lung
Abdomen:
  • adrenal gland
  • kidney
  • liver
General:
  • 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
chimpanzee
(Pan troglodytes)
Mammalia PCK1 34 35
  • 99.04 (n)
dog
(Canis familiaris)
Mammalia PEPCK 35
  • 90 (a)
OneToOne
PCK1 34
  • 87.3 (n)
oppossum
(Monodelphis domestica)
Mammalia PCK1 35
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pck1 17 34 35
  • 85.53 (n)
rat
(Rattus norvegicus)
Mammalia Pck1 34
  • 85.16 (n)
cow
(Bos Taurus)
Mammalia PCK1 35 34
  • 84.19 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PCK1 35
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves PEPCK 35
  • 85 (a)
OneToOne
PCK1 34
  • 77.01 (n)
lizard
(Anolis carolinensis)
Reptilia PCK1 35
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pck1 34
  • 75.83 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC68864 34
zebrafish
(Danio rerio)
Actinopterygii pck1 35 34
  • 70.59 (n)
OneToOne
Dr.26132 34
fruit fly
(Drosophila melanogaster)
Insecta CG10924 35 36 34
  • 63.86 (n)
ManyToMany
Pepck 35 36
  • 62 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea R11A5.4 36
  • 57 (a)
pck-1 35
  • 54 (a)
ManyToMany
pck-2 35
  • 54 (a)
ManyToMany
pck-3 35
  • 25 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10673 35
  • 66 (a)
OneToMany
Cin.5335 34
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5335 34
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

ENSEMBL:
Gene Tree for PCK1 (if available)
TreeFam:
Gene Tree for PCK1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PCK1: view image

Paralogs for PCK1 Gene

Paralogs for PCK1 Gene

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

  • PCKGC_HUMAN
  • B4DT64_HUMAN
  • F5GZM4_HUMAN
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 Variation AA Info Type
rs1042521 benign, Phosphoenolpyruvate carboxykinase (GTP) deficiency 57,561,480(+) A/C/G 5_prime_UTR_variant, coding_sequence_variant, synonymous_variant
rs1042523 benign, Phosphoenolpyruvate carboxykinase (GTP) deficiency 57,562,751(+) A/G coding_sequence_variant, synonymous_variant
rs1042531 benign, Phosphoenolpyruvate carboxykinase (GTP) deficiency 57,565,924(+) T/G 3_prime_UTR_variant
rs1062600 benign, Phosphoenolpyruvate carboxykinase (GTP) deficiency 57,562,742(+) G/A coding_sequence_variant, synonymous_variant
rs1062601 benign, Phosphoenolpyruvate carboxykinase (GTP) deficiency 57,562,778(+) A/C/G coding_sequence_variant, synonymous_variant

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)

Additional Variant Information for PCK1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PCK1
Human Gene Mutation Database (HGMD)
PCK1

SNP Genotyping and Copy Number Assay Products

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, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search PCK1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PCKGC_HUMAN
  • Phosphoenolpyruvate carboxykinase deficiency, cytosolic (PCKDC) [MIM:261680]: An autosomal recessive metabolic disorder characterized by impaired gluconeogenesis, hypoglycemia, hypotonia, hepatomegaly, hepatic dysfunction, failure to thrive, lactic acidosis, and elevated tricarboxylic acid intermediates, particularly fumarate, in urine. {ECO:0000269 PubMed:24863970, ECO:0000269 PubMed:26971250, ECO:0000269 PubMed:28216384}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for PCK1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
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 23 45 58
  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 23 45 58
  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 23 45 58
  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 23 45 58
  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 23 45 58

Products for PCK1 Gene

Sources for PCK1 Gene

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