Entity Details

Primary name PCKGM_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ16822
EntryNamePCKGM_HUMAN
FullNamePhosphoenolpyruvate carboxykinase [GTP], mitochondrial
TaxID9606
Evidenceevidence at protein level
Length640
SequenceStatuscomplete
DateCreated1998-07-15
DateModified2021-06-02

Ontological Relatives

GenesPCK2

GO terms

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GOName
GO:0004611 phosphoenolpyruvate carboxykinase activity
GO:0004613 phosphoenolpyruvate carboxykinase (GTP) activity
GO:0005525 GTP binding
GO:0005739 mitochondrion
GO:0005759 mitochondrial matrix
GO:0005829 cytosol
GO:0006094 gluconeogenesis
GO:0006107 oxaloacetate metabolic process
GO:0006116 NADH oxidation
GO:0019543 propionate catabolic process
GO:0030145 manganese ion binding
GO:0032024 positive regulation of insulin secretion
GO:0032496 response to lipopolysaccharide
GO:0032869 cellular response to insulin stimulus
GO:0033993 response to lipid
GO:0042594 response to starvation
GO:0046327 glycerol biosynthetic process from pyruvate
GO:0070365 hepatocyte differentiation
GO:0071333 cellular response to glucose stimulus
GO:0071356 cellular response to tumor necrosis factor
GO:0071549 cellular response to dexamethasone stimulus

Subcellular Location

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Subcellular Location
Mitochondrion

Domains

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DomainNameCategoryType
IPR008209 Phosphoenolpyruvate carboxykinase, GTP-utilisingFamilyFamily
IPR008210 Phosphoenolpyruvate carboxykinase, N-terminalFamilyHomologous superfamily
IPR013035 Phosphoenolpyruvate carboxykinase, C-terminalFamilyHomologous superfamily
IPR018091 Phosphoenolpyruvate carboxykinase, GTP-utilising, conserved siteSiteConserved site
IPR035077 Phosphoenolpyruvate carboxykinase, C-terminal P-loop domainDomainDomain
IPR035078 Phosphoenolpyruvate carboxykinase, GTP-utilising, N-terminalDomainDomain

Diseases

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Disease IDSourceNameDescription
261650 OMIMMitochondrial phosphoenolpyruvate carboxykinase deficiency (M-PEPCKD)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. The disease is caused by variants affecting the gene represented in this entry.

Drugs

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DrugNameSourceType
DB00787 AcyclovirDrugbanksmall molecule

Interactions

4 interactions