Pyruvate dehydrogenase phosphatase

PDP1
Identifiers
AliasesPDP1, PDH, PDP, PDPC, PPM2C, PPM2A, pyruvate dehyrogenase phosphatase catalytic subunit 1, pyruvate dehydrogenase phosphatase catalytic subunit 1
External IDsOMIM: 605993; MGI: 2685870; HomoloGene: 31928; GeneCards: PDP1; OMA:PDP1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
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 MbChr 4: 11.96 – 11.97 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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.

Function

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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

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

Clinical significance

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

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000164951Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000049225Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ a b c "Entrez Gene: pyruvate dehydrogenase phosphatase catalytic subunit 1".
  6. ^ Lawson JE, Niu XD, Browning KS, Trong HL, Yan J, Reed LJ (Sep 1993). "Molecular cloning and expression of the catalytic subunit of bovine pyruvate dehydrogenase phosphatase and sequence similarity with protein phosphatase 2C". Biochemistry. 32 (35): 8987–93. doi:10.1021/bi00086a002. PMID 8396421.

Further reading

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This article incorporates text from the United States National Library of Medicine, which is in the public domain.