InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: PCK1

Summary

InnateDB Protein

IDBP-82364.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

PCK1

Protein Name

phosphoenolpyruvate carboxykinase 1 (soluble)

Synonyms

PEPCK-C; PEPCK1; PEPCKC;

Species

Homo sapiens

Ensembl Protein

ENSP00000319814

InnateDB Gene

IDBG-82362 (PCK1)

Protein Structure

UniProt Annotation

Function

Catalyzes the conversion of oxaloacetate (OAA) to phosphoenolpyruvate (PEP), the rate-limiting step in the metabolic pathway that produces glucose from lactate and other precursors derived from the citric acid cycle.

Subcellular Localization

Cytoplasm.

Disease Associations

Cytosolic phosphoenolpyruvate carboxykinase deficiency (C-PEPCKD) [MIM:261680]: Metabolic disorder resulting from impaired gluconeogenesis. It is a rare disease with less than 10 cases reported in the literature. Clinical characteristics include hypotonia, hepatomegaly, failure to thrive, lactic acidosis and hypoglycemia. Autopsy reveals fatty infiltration of both the liver and kidneys. The disorder is transmitted as an autosomal recessive trait. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Major sites of expression are liver, kidney and adipocytes.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 80 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.

Experimentally validated
Total	80 [view]
Protein-Protein	76 [view]
Protein-DNA	4 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	2 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0000287	magnesium ion binding
GO:0004611	phosphoenolpyruvate carboxykinase activity
GO:0004613	phosphoenolpyruvate carboxykinase (GTP) activity
GO:0005525	GTP binding
GO:0017076	purine nucleotide binding
GO:0019003	GDP binding
GO:0030145	manganese ion binding
GO:0031406	carboxylic acid binding

Biological Process

GO:0005975	carbohydrate metabolic process
GO:0006006	glucose metabolic process
GO:0006094	gluconeogenesis
GO:0006107	oxaloacetate metabolic process
GO:0006475	internal protein amino acid acetylation
GO:0006629	lipid metabolic process
GO:0014823	response to activity
GO:0017144	drug metabolic process
GO:0032868	response to insulin
GO:0042593	glucose homeostasis
GO:0044281	small molecule metabolic process
GO:0046327	glycerol biosynthetic process from pyruvate