Phosphoenolpyruvate Carboxykinase 1, Soluble

Alternative Names

PCK1
PEPCK1
PEPCK, Cytosolic
PEPCKC

Length

7,012 bases

No. of Exons

No. of isoforms

Protein Name

Phosphoenolpyruvate carboxykinase, cytosolic [GTP]

Molecular Mass

69195 Da

Amino Acid Count

622

Genomic Location

chr20:57,561,110-57,568,121

Gene Map Locus

20q13.31

Description

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. [From RefSeq]

Epidemiology in the Arab World

View Map

Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_002591.4:c.1268C>T	Oman; United Arab Emir...	NC_000020.11:g.57564563C>T	Pathogenic, Uncertain Significance	Likely Pathogenic	Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	NG_008205.1:g.8483C>T; NM_002591.4:c.1268C>T; NP_002582.3:p.Pro423Leu	148603002	1474811
NM_002591.4:c.574T>C	Oman	NC_000020.11:g.57562863T>C	Pathogenic	Likely Pathogenic	Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	NG_008205.1:g.6783T>C; NM_002591.4:c.574T>C; NP_002582.3:p.Cys192Arg	2070161874	2502278
NM_002591.4:c.961+1G>A	Oman	NC_000020.11:g.57563728G>A	Likely Pathogenic, Pathogenic	Pathogenic	Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	NG_008205.1:g.7648G>A; NM_002591.4:c.961+1G>A; NP_002582.3:p.?	776767788	931905

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External Links

https://www.genecards.org/cgi-bin/carddisp.pl?gene=PCK1

Contributors

Asha Deepthi: 28.05.2025

Edit History

Asha Deepthi: 28.05.2025

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