Pyruvate dehydrogenase phosphatase

Pyruvate dehydrogenase phosphatase catalytic subunit 1 (PDPC 1), also known as protein phosphatase 2C, is an enzyme that in humans is encoded by the PDP1 gene.^[5][6] PDPC 1 is an enzyme which serves to reverse the effects of pyruvate dehydrogenase kinase upon pyruvate dehydrogenase, activating pyruvate dehydrogenase.

PDP1
Identifiers
Aliases	PDP1, PDH, PDP, PDPC, PPM2C, PPM2A, pyruvate dehyrogenase phosphatase catalytic subunit 1, pyruvate dehydrogenase phosphatase catalytic subunit 1
External IDs	OMIM: 605993; MGI: 2685870; HomoloGene: 31928; GeneCards: PDP1; OMA:PDP1 - orthologs
Gene location (Human) Chr. Chromosome 8 (human)[1] Band 8q22.1 Start 93,857,807 bp[1] End 93,926,068 bp[1]
Gene location (Mouse) Chr. Chromosome 4 (mouse)[2] Band 4|4 A1 Start 11,958,184 bp[2] End 11,966,452 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in lateral nuclear group of thalamus buccal mucosa cell biceps brachii parietal lobe postcentral gyrus Brodmann area 23 right ventricle superior frontal gyrus Skeletal muscle tissue of biceps brachii primary visual cortex Top expressed in lateral geniculate nucleus medial dorsal nucleus medial geniculate nucleus olfactory tubercle primary motor cortex prefrontal cortex piriform cortex seminal vesicula cingulate gyrus lateral septal nucleus More reference expression data BioGPS n/a
Gene ontology Molecular function protein serine/threonine phosphatase activity protein binding catalytic activity phosphoprotein phosphatase activity hydrolase activity cation binding metal ion binding [pyruvate dehydrogenase (lipoamide) phosphatase activity] Cellular component mitochondrial matrix mitochondrion Biological process protein dephosphorylation regulation of acetyl-CoA biosynthetic process from pyruvate peptidyl-threonine dephosphorylation positive regulation of pyruvate dehydrogenase activity Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 54704 381511 Ensembl ENSG00000164951 ENSMUSG00000049225 UniProt Q9P0J1 Q3UV70 RefSeq (mRNA) NM_001161778 NM_001161779 NM_001161780 NM_001161781 NM_018444 NM_001033453 NM_001098230 NM_001098231 NM_001290387 NM_001290391 RefSeq (protein) NP_001155251 NP_001155252 NP_001155253 NP_060914 NP_001028625 NP_001091700 NP_001091701 NP_001277316 NP_001277320 Location (UCSC) Chr 8: 93.86 – 93.93 Mb Chr 4: 11.96 – 11.97 Mb PubMed search [3] [4]
Wikidata
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Function

Pyruvate dehydrogenase (E1) is one of the three components (E1, E2, and E3) of the large pyruvate dehydrogenase complex. Pyruvate dehydrogenase kinases catalyze phosphorylation of serine residues of E1 to inactivate the E1 component and inhibit the complex. Pyruvate dehydrogenase phosphatases catalyze the dephosphorylation and activation of the E1 component to reverse the effects of pyruvate dehydrogenase kinases.

Pyruvate dehydrogenase phosphatase is a heterodimer consisting of catalytic and regulatory subunits. Two catalytic subunits have been reported; one is predominantly expressed in skeletal muscle, and another one is much more abundant in the liver. The catalytic subunit, encoded by this gene, is the former, and belongs to the protein phosphatase 2C (PP2C) superfamily. Along with the pyruvate dehydrogenase complex and pyruvate dehydrogenase kinases, this enzyme is located in the mitochondrial matrix.^[5]

Regulation

Pyruvate dehydrogenase phosphatase is stimulated by insulin, PEP, and AMP, but competitively inhibited by ATP, NADH, and Acetyl-CoA.

Clinical significance

Mutation in the PDP1 gene causes pyruvate dehydrogenase phosphatase deficiency.^{[5][clarification needed]}