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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]
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 Glucose metabolism and Estrogen Receptor Pathway. Gene Ontology (GO) annotations related to this gene include GTP binding and GDP binding. An important paralog of this gene is PCK2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000166 | nucleotide binding | IEA | -- |
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 ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA,ISS | -- |
GO:0005739 | mitochondrion | IBA | 21873635 |
GO:0005783 | endoplasmic reticulum | IEA,IDA | 32322062 |
GO:0005829 | cytosol | TAS | -- |
GO:0070062 | extracellular exosome | HDA | 19056867 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Glucose metabolism |
Glycolysis and gluconeogenesis (short map)
.58
.46
|
|
2 | Citrate cycle (TCA cycle) | ||
3 | Metabolism |
.40
|
|
4 | Abacavir transport and metabolism | ||
5 | Glucose / Energy Metabolism |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006006 | glucose metabolic process | IEA,IMP | 14764811 |
GO:0006094 | gluconeogenesis | ISS,TAS | -- |
GO:0006107 | oxaloacetate metabolic process | IDA | 30193097 |
GO:0006629 | lipid metabolic process | IEA | -- |
GO:0007568 | aging | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Acyclovir | Approved | Pharma | Enzyme, substrate | 124 | ||
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 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
IDP |
|
86-04-4 |
|
|||
inosine triphosphate |
|
132-06-9 |
|
|||
Oxalacetic acid |
|
328-42-7 |
|
ExUns: | 1a | · | 1b | ^ | 2a | · | 2b | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6a | · | 6b | ^ | 7a | · | 7b | ^ | 8 | ^ | 9 | ^ | 10a | · | 10b | · | 10c |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | ||||||||||||||||||||||||||||||
SP2: | |||||||||||||||||||||||||||||||||
SP3: | |||||||||||||||||||||||||||||||||
SP4: | |||||||||||||||||||||||||||||||||
SP5: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | PCK1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | PEPCK 31 |
|
OneToOne | |
PCK1 30 |
|
||||
Oppossum (Monodelphis domestica) |
Mammalia | PCK1 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Pck1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Pck1 30 |
|
||
Cow (Bos Taurus) |
Mammalia | PCK1 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | PCK1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | PEPCK 31 |
|
OneToOne | |
PCK1 30 |
|
||||
Lizard (Anolis carolinensis) |
Reptilia | PCK1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | pck1 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | MGC68864 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | pck1 30 31 |
|
OneToOne | |
Dr.26132 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG10924 30 31 32 |
|
ManyToMany | |
Pepck 31 32 |
|
ManyToMany | |||
Worm (Caenorhabditis elegans) |
Secernentea | R11A5.4 32 |
|
|
|
pck-1 31 |
|
ManyToMany | |||
pck-2 31 |
|
ManyToMany | |||
pck-3 31 |
|
ManyToMany | |||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.10673 31 |
|
OneToMany | |
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.5335 30 |
|
SNP ID | Clinical significance and condition | Chr 20 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
895814 | Uncertain Significance: Phosphoenolpyruvate carboxykinase deficiency, cytosolic | 57,562,866(+) |
C/T NM_002591.4(PCK1):c.577C>T (p.Leu193Phe) |
MISSENSE | |
895815 | Uncertain Significance: Phosphoenolpyruvate carboxykinase deficiency, cytosolic | 57,563,068(+) |
G/A NM_002591.4(PCK1):c.651G>A (p.Thr217=) |
SYNONYMOUS | |
895816 | Uncertain Significance: Phosphoenolpyruvate carboxykinase deficiency, cytosolic | 57,563,133(+) |
C/T NM_002591.4(PCK1):c.716C>T (p.Ser239Leu) |
MISSENSE | |
895817 | Uncertain Significance: Phosphoenolpyruvate carboxykinase deficiency, cytosolic | 57,563,150(+) |
T/G NM_002591.4(PCK1):c.733T>G (p.Cys245Gly) |
MISSENSE | |
895818 | Uncertain Significance: Phosphoenolpyruvate carboxykinase deficiency, cytosolic | 57,563,164(+) |
G/A NM_002591.4(PCK1):c.747G>A (p.Arg249=) |
SYNONYMOUS |
Disorder | Aliases | PubMed IDs |
---|---|---|
phosphoenolpyruvate carboxykinase deficiency, cytosolic |
|
|
pepck 1 deficiency |
|
|
hypoglycemia |
|
|
type 2 diabetes mellitus |
|
|
maturity-onset diabetes of the young |
|
|