PCK1 - phosphoenolpyruvate carboxykinase 1 Gene

Homo sapiens

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

Gene ID: 5105 | Gene type: protein coding

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]

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

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

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10152	PCK1 Human Pre-designed siRNA Set A		/	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