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PCK1 (phosphoenolpyruvate carboxykinase 1)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5105
Gene nameGene Name - the full gene name approved by the HGNC.
Phosphoenolpyruvate carboxykinase 1
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
PCK1
SynonymsGene synonyms aliases
PCKDC, PEPCK-C, PEPCK1, PEPCKC
ChromosomeChromosome number
20
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
20q13.31
SummarySummary 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
SNPsSNP 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
miRNAmiRNA 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 IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
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
Sequence
Sequence length 622
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
KEGG
 
Reactome
  Glycolysis / Gluconeogenesis
Citrate cycle (TCA cycle)
Pyruvate metabolism
Metabolic pathways
PPAR signaling pathway
FoxO signaling pathway
PI3K-Akt signaling pathway
AMPK signaling pathway
Insulin signaling pathway
Adipocytokine signaling pathway
Glucagon signaling pathway
Insulin resistance
Proximal tubule bicarbonate reclamation
  Transcriptional regulation of white adipocyte differentiation
Gluconeogenesis
NR1H2 & NR1H3 regulate gene expression linked to gluconeogenesis
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Liver failure Liver Failure rs118203990, rs118203991, rs118203992, rs387907022, rs201861847, rs796065037, rs759315662, rs368196005, rs796052121, rs369437593, rs367683258, rs766314948, rs368085185, rs770446752, rs753039116, rs776797592, rs1490906786, rs1562849964, rs759960319, rs776597537, rs375350359, rs1573008071, rs1601977105, rs1174791046, rs1019313682
Myocardial infarction Myocardial Failure rs12316150, rs41303970, rs909253, rs7291467, rs2234693 26670611
Obesity Obesity rs34911341, rs74315349, rs1474810899, rs2282440, rs2491132, rs121918111, rs796065034, rs753856820, rs796065035, rs121918112, rs104894023, rs137852821, rs1580764441, rs137852822, rs137852823, rs137852824, rs13447324, rs121913562, rs121913564, rs74315393, rs121913556, rs2989924, rs193922650, rs193922685, rs193922687, rs751160202, rs1421085, rs747681609, rs1553400259, rs13447339, rs370479598, rs1554394014, rs1553174844, rs756232889, rs369841551, rs1557670950, rs1571321748, rs148538980, rs1572820988, rs1591461970, rs1419374563, rs745921568, rs144159890, rs1570714352, rs779783209, rs1573250294, rs1573254045, rs1580744791, rs1580746829, rs6548238, rs7138803, rs7754840 20882379
Unknown
Disease name Disease term dbSNP ID References
Celiac disease Celiac Disease rs2305764, rs35218876 30097691
Cerebral atrophy Cerebral atrophy
Congestive heart failure Congestive heart failure rs2301610, rs3833910, rs12301951, rs201674674, rs186741807, rs150140412, rs786205727, rs757840030, rs552050895, rs759465783, rs201978086, rs572757800, rs1572143354, rs749160569 26670611
Fatty liver Fatty Liver, Steatohepatitis

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