PCK1 (phosphoenolpyruvate carboxykinase 1)

2011-05-01  

Identity

HGNC
LOCATION
20q13.31
LOCUSID
ALIAS
PCKDC,PEPCK-C,PEPCK1,PEPCKC
FUSION GENES

Other Information

Locus ID:

NCBI: 5105
MIM: 614168
HGNC: 8724
Ensembl: ENSG00000124253

Variants:

dbSNP: 5105
ClinVar: 5105
TCGA: ENSG00000124253
COSMIC: PCK1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000124253ENST00000319441P35558

Expression (GTEx)

0
100
200
300
400
500
600

Pathways

PathwaySourceExternal ID
Glycolysis / GluconeogenesisKEGGko00010
Citrate cycle (TCA cycle)KEGGko00020
Pyruvate metabolismKEGGko00620
PPAR signaling pathwayKEGGko03320
Insulin signaling pathwayKEGGko04910
Adipocytokine signaling pathwayKEGGko04920
Glycolysis / GluconeogenesisKEGGhsa00010
Citrate cycle (TCA cycle)KEGGhsa00020
Pyruvate metabolismKEGGhsa00620
PPAR signaling pathwayKEGGhsa03320
Insulin signaling pathwayKEGGhsa04910
Adipocytokine signaling pathwayKEGGhsa04920
Metabolic pathwaysKEGGhsa01100
Proximal tubule bicarbonate reclamationKEGGko04964
Proximal tubule bicarbonate reclamationKEGGhsa04964
Gluconeogenesis, oxaloacetate => fructose-6PKEGGhsa_M00003
Gluconeogenesis, oxaloacetate => fructose-6PKEGGM00003
PI3K-Akt signaling pathwayKEGGhsa04151
PI3K-Akt signaling pathwayKEGGko04151
FoxO signaling pathwayKEGGhsa04068
AMPK signaling pathwayKEGGhsa04152
AMPK signaling pathwayKEGGko04152
Glucagon signaling pathwayKEGGhsa04922
Glucagon signaling pathwayKEGGko04922
MetabolismREACTOMER-HSA-1430728
Metabolism of carbohydratesREACTOMER-HSA-71387
Glucose metabolismREACTOMER-HSA-70326
GluconeogenesisREACTOMER-HSA-70263
Abacavir transport and metabolismREACTOMER-HSA-2161522
Abacavir metabolismREACTOMER-HSA-2161541
Developmental BiologyREACTOMER-HSA-1266738
Transcriptional regulation of white adipocyte differentiationREACTOMER-HSA-381340
Insulin resistanceKEGGhsa04931

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
217268082011Acetylation regulates gluconeogenesis by promoting PEPCK1 degradation via recruiting the UBR5 ubiquitin ligase.136
206826872010Common variants in 40 genes assessed for diabetes incidence and response to metformin and lifestyle intervention in the diabetes prevention program.88
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
188017322008AMP-activated protein kinase activation increases phosphorylation of glycogen synthase kinase 3beta and thereby reduces cAMP-responsive element transcriptional activity and phosphoenolpyruvate carboxykinase C gene expression in the liver.61
150467422004Disregulated glyceroneogenesis: PCK1 as a candidate diabetes and obesity gene.40
123244532002Glucocorticoid signaling is perturbed by the atypical orphan receptor and corepressor SHP.34
171924902007Screening of 134 single nucleotide polymorphisms (SNPs) previously associated with type 2 diabetes replicates association with 12 SNPs in nine genes.32
186604892008Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations.26
296088932018Circular RNA circC3P1 suppresses hepatocellular carcinoma growth and metastasis through miR-4641/PCK1 pathway.26
248639702014Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith-Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivity.25

Citation

Dessen P

PCK1 (phosphoenolpyruvate carboxykinase 1)

Atlas Genet Cytogenet Oncol Haematol. 2011-05-01

Online version: http://atlasgeneticsoncology.org/gene/52227/pck1