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PCK1 - phosphoenolpyruvate carboxykinase 1 Gene

Also Known as PCKDC; PEPCK1; PEPCKC; PEPCK-C

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 5105

About PCK1

Cytogenetic location: 20q13.31 Genomic coordinates (GRCh38): 20:57,561,110-57,568,121 (from NCBI)

This gene has 6 transcripts (splice variants), 199 orthologues, 1 paralogue and is associated with 2 phenotypes. Biased expression in liver (RPKM 471.7), kidney (RPKM 448.1) and 4 other tissues.

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 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 Products (1)

mRNA	Protein	Name
NM_002591.4	NP_002582.3	phosphoenolpyruvate carboxykinase, cytosolic [GTP]

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables GTP binding	IDA IDA: Inferred from direct assay	11851336	GOA
enables carboxylic acid binding	IDA IDA: Inferred from direct assay	11851336	GOA
enables magnesium ion binding	IDA IDA: Inferred from direct assay	11851336	GOA
enables manganese ion binding	IDA IDA: Inferred from direct assay	11851336	GOA
enables phosphoenolpyruvate carboxykinase (GTP) activity	EXP EXP: Inferred from Experiment	11851336	GOA
enables phosphoenolpyruvate carboxykinase (GTP) activity	IDA IDA: Inferred from direct assay	30193097	GOA
enables phosphoenolpyruvate carboxykinase (GTP) activity	IMP IMP: Inferred from mutant phenotype	26971250	GOA
enables protein serine kinase activity (using GTP as donor)	IDA IDA: Inferred from direct assay	32322062	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in cellular response to glucose stimulus	IDA IDA: Inferred from direct assay	30193097	GOA
involved in cellular response to insulin stimulus	IDA IDA: Inferred from direct assay	32322062	GOA
involved in gluconeogenesis	IDA IDA: Inferred from direct assay	30193097	GOA
involved in gluconeogenesis	IMP IMP: Inferred from mutant phenotype	26971250	GOA
involved in glucose metabolic process	IMP IMP: Inferred from mutant phenotype	14764811	GOA
involved in oxaloacetate metabolic process	IDA IDA: Inferred from direct assay	30193097	GOA
involved in peptidyl-serine phosphorylation	IDA IDA: Inferred from direct assay	32322062	GOA
involved in positive regulation of lipid biosynthetic process	IDA IDA: Inferred from direct assay	32322062	GOA
involved in regulation of lipid biosynthetic process	IDA IDA: Inferred from direct assay	32322062	GOA
involved in response to insulin	IDA IDA: Inferred from direct assay	14764811	GOA
involved in tricarboxylic acid metabolic process	IDA IDA: Inferred from direct assay	30193097	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in cytosol	IDA IDA: Inferred from direct assay	32322062	GOA
located in endoplasmic reticulum	IDA IDA: Inferred from direct assay	32322062	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PCK1 Protein Structure

PEPCK_C

0
100
200
300
400
500
622 a.a.

Protein Preferred Names	Protein Names
phosphoenolpyruvate carboxykinase, cytosolic [GTP]	PEP carboxykinase

PCK1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P80267	PCK1 Antibody (YA242)	ICC/IF, IHC-P, WB	Human

Related Diseases

Diseases	Alias
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	PCKDC Pck1 Deficiency, Cytosolic Pepck Deficiency, Cytosolic Deficiency, Phosphoenolpyruvate Carboxykinase, Cytosolic
Pepck 1 Deficiency	Phosphoenolpyruvate Carboxykinase Deficiency Phosphoenolpyruvate Carboxykinase Deficiency Pep Carboxykinase Deficiency Phosphoenolpyruvate Carboxykinase-1 Deficiency Phosphoenolpyruvate Carboxylase Deficiency Phosphopyruvate Carboxylase Deficiency Pepck Deficiency
Hypoglycemia	Hypoglycaemia Low Blood Sugar Hypoglycaemia Nos Spontaneous Hypoglycaemia Nondiabetic Hypoglycaemia Hypoglycaemic Disorder Nos Hypoglycaemic Syndrome
Type 2 Diabetes Mellitus	Insulin Resistance NIDDM Type 2 Diabetes Diabetes Mellitus, Non-Insulin-Dependent T2D Noninsulin-Dependent Diabetes Mellitus Diabetes Mellitus, Type Ii Maturity-Onset Diabetes Insulin Resistance, Severe, Digenic Diabetes Mellitus, Type 2 Diabetes Mellitus, Noninsulin-Dependent Diabetes Mellitus, Noninsulin-Dependent, Association With Diabetes Mellitus, Noninsulin-Dependent, Late Onset Hypertension, Insulin Resistance-Related, Susceptibility To Insulin Resistance, Susceptibility To Non-Insulin-Dependent Diabetes Mellitus Type Ii Diabetes Mellitus Adult-Onset Diabetes Mellitus Maturity-Onset Diabetes Mellitus Diabetes Mellitus Type 2 Type Ii Diabetes Type 2 Diabetes Mellitus, Susceptibility To Diabetes, Type 2 Diabetes Mellitus, Noninsulin-Dependent, Susceptibility To Diabetes Mellitus, Non-Insulin-Dependent, Susceptibility To Diabetes Mellitus, Type 2, Susceptibility To Diabetes Mellitus, Noninsulin-Dependent, 2 Diabetes Mellitus, Type Ii, Susceptibility To Hypertension, Insulin Resistance-Related Adult-Onset Diabetes Aodm Diabetes Mellitus, Adult-Onset Diabetes Mellitus Type Ii Diabetes Mellitus Type 2, Susceptibility To Diabetes, Type Ii, Susceptibility To Diabetes Type 2 Diabetes Mellitus Adult Onset Diabetes Maturity Onset Diabetes Nonketotic Diabetes Non-Insulin Dependent Diabetes Mellitus T2dm - [Type 2 Diabetes Mellitus] Niddm - [Non Insulin Dependent Diabetes Mellitus] Dm2 Dm Type Ii Diabetic Type 2 Insulin Requiring Type 2 Diabetes Noninsulin Dependent Diabetes Non-Insulin-Dependent Diabetes Mellitus Without Complications Diabetes Due To Insulin Secretory Defect Diabetes Mellitus Due To Insulin Secretory Defect Non-Insulin-Dependent Diabetes Of The Young Senile Diabetes Nonketotic Hyperglycaemia Stable Diabetes
Smith-Magenis Syndrome	SMS Chromosome 17p11.2 Deletion Syndrome 17p11.2 Microdeletion Syndrome 17p11.2 Monosomy Chromosome 17p Deletion Syndrome Del(17) P11.2 17p- Syndrome Deletion 17p Syndrome Partial Monosomy 17p
Lactic Acidosis	Acidosis, Lactic Acidosis Lactic
Diabetes Mellitus	Diabetes

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (6)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-116688	2-Hydroxy-4-(methylthio)butyric acid		88.0%	Unkown
HY-N2368	Arecaidine		99.63%	Unkown
HY-175266	MI1013		99.10%	Unkown
HY-RS10152	PCK1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS17590	Pck1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24050	Pck1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	PCK1	MGD	MGI:97501
Canis familiaris	PCK1	VGNC	VGNC:44307
Macaca mulatta	PCK1	VGNC	VGNC:75779
Felis catus	PCK1	VGNC	VGNC:68726
Bos taurus	PCK1	VGNC	VGNC:32631
Rattus norvegicus	PCK1	RGD	RGD:3267
Others	PCK1	NCBI