Gene Gene information from NCBI Gene database.
Entrez ID 5105
Gene name Phosphoenolpyruvate carboxykinase 1
Gene symbol PCK1
Synonyms (NCBI Gene)
PCKDCPEPCK-CPEPCK1PEPCKC
Chromosome 20
Chromosome location 20q13.31
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 expressio
SNPs SNP information provided by dbSNP.
4
SNP ID Visualize variation Clinical significance Consequence
rs147120329 C>T Conflicting-interpretations-of-pathogenicity 5 prime UTR variant, missense variant, coding sequence variant
rs148684857 G>A Conflicting-interpretations-of-pathogenicity, uncertain-significance Missense variant, coding sequence variant
rs201186470 G>A Pathogenic, uncertain-significance Missense variant, coding sequence variant
rs373906233 G>A Likely-pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
379
miRTarBase ID miRNA Experiments Reference
MIRT054920 hsa-miR-33b-5p Luciferase reporter assayqRT-PCR 23716591
MIRT607464 hsa-miR-8485 HITS-CLIP 22927820
MIRT607463 hsa-miR-4789-3p HITS-CLIP 22927820
MIRT607462 hsa-miR-5011-5p HITS-CLIP 22927820
MIRT626357 hsa-miR-8064 HITS-CLIP 22927820
Transcription factors Transcription factors information provided by TRRUST V2 database.
4
Transcription factor Regulation Reference
ATF2 Activation 12453892
CEBPA Unknown 12237288
SP1 Activation 14744869
SREBF1 Repression 14744869
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
76
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0000287 Function Magnesium ion binding IDA 11851336
GO:0004611 Function Phosphoenolpyruvate carboxykinase activity IEA
GO:0004613 Function Phosphoenolpyruvate carboxykinase (GTP) activity EXP 11851336
GO:0004613 Function Phosphoenolpyruvate carboxykinase (GTP) activity IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
614168 8724 ENSG00000124253
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P35558
Protein name Phosphoenolpyruvate carboxykinase, cytosolic [GTP] (PEPCK-C) (EC 4.1.1.32) (Serine-protein kinase PCK1) (EC 2.7.11.-)
Protein function Cytosolic phosphoenolpyruvate carboxykinase that catalyzes the reversible decarboxylation and phosphorylation of oxaloacetate (OAA) and acts as the rate-limiting enzyme in gluconeogenesis (PubMed:24863970, PubMed:26971250, PubMed:28216384, PubMe
PDB 1KHB , 1KHE , 1KHF , 1KHG , 1M51 , 1NHX , 2GMV
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF17297 PEPCK_N 29 256 Phosphoenolpyruvate carboxykinase N-terminal domain Domain
PF00821 PEPCK_GTP 260 619 Phosphoenolpyruvate carboxykinase C-terminal P-loop domain Domain
Tissue specificity TISSUE SPECIFICITY: Major sites of expression are liver, kidney and adipocytes. {ECO:0000269|PubMed:8490617}.
Sequence
Sequence length 622
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
123
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Phosphoenolpyruvate carboxykinase deficiency, cytosolic Pathogenic; Likely pathogenic rs2070161874, rs776767788 RCV003228696
RCV001198900
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Clear cell carcinoma of kidney Uncertain significance; Conflicting classifications of pathogenicity rs151290242, rs41302559 RCV005939383
RCV005910209
Colon adenocarcinoma Conflicting classifications of pathogenicity rs41302559 RCV005910207
Hepatocellular carcinoma Conflicting classifications of pathogenicity rs41302559 RCV005910208
Ovarian serous cystadenocarcinoma Conflicting classifications of pathogenicity rs41302559 RCV005910210
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 35109912
Alzheimer Disease Associate 18830724, 21152065
Androgen Insensitivity Syndrome Associate 24863970
Atherosclerosis Associate 37904164
Brain Diseases Associate 37924129
Breast Neoplasms Associate 32028860, 39684297
Carcinogenesis Associate 39684297
Carcinoma Hepatocellular Associate 31406102, 33865459, 34238253
Carcinoma Hepatocellular Inhibit 37166978
Carcinoma Renal Cell Associate 27748938, 34528699