Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5105
Gene name Gene Name - the full gene name approved by the HGNC.
Phosphoenolpyruvate carboxykinase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PCK1
Synonyms (NCBI Gene) Gene synonyms aliases
PCKDC, PEPCK-C, PEPCK1, PEPCKC
Disease Acronyms (UniProt) Disease acronyms from UniProt database
PCKDC
Chromosome Chromosome number
20
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
20q13.31
Summary Summary of gene provided in NCBI Entrez 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 expressio
SNPs SNP information provided by dbSNP.
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.
miRTarBase ID miRNA Experiments Reference
MIRT054920 hsa-miR-33b-5p Luciferase reporter assay, qRT-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 factor Regulation Reference
ATF2 Activation 12453892
CEBPA Unknown 12237288
SP1 Activation 14744869
SREBF1 Repression 14744869
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000287 Function Magnesium ion binding IDA 11851336
GO:0004613 Function Phosphoenolpyruvate carboxykinase (GTP) activity IBA 21873635
GO:0004613 Function Phosphoenolpyruvate carboxykinase (GTP) activity IDA 30193097, 32322062
GO:0004613 Function Phosphoenolpyruvate carboxykinase (GTP) activity IMP 26971250
GO:0004613 Function Phosphoenolpyruvate carboxykinase (GTP) activity ISS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
614168 8724 ENSG00000124253
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Unknown
Disease term Disease name Evidence References Source
Phosphoenolpyruvate carboxykinase deficiency phosphoenolpyruvate carboxykinase deficiency, cytosolic, phosphoenolpyruvate carboxykinase deficiency GenCC
Metabolic Syndrome Metabolic Syndrome GWAS
Diabetes Diabetes GWAS
Associations from Text Mining
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