PDP1 (pyruvate dehydrogenase phosphatase catalytic subunit 1)

2007-04-01  

Identity

HGNC
LOCATION
8q22.1
LOCUSID
ALIAS
PDH,PDP,PDPC,PPM2A,PPM2C
FUSION GENES

Other Information

Locus ID:

NCBI: 54704
MIM: 605993
HGNC: 9279
Ensembl: ENSG00000164951

Variants:

dbSNP: 54704
ClinVar: 54704
TCGA: ENSG00000164951
COSMIC: PDP1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000164951ENST00000297598Q9P0J1
ENSG00000164951ENST00000297598A0A024R9C0
ENSG00000164951ENST00000396200Q9P0J1
ENSG00000164951ENST00000517764Q9P0J1
ENSG00000164951ENST00000517764A0A024R9C0
ENSG00000164951ENST00000518107E5RFL8
ENSG00000164951ENST00000518573E5RIE5
ENSG00000164951ENST00000518827E5RIV4
ENSG00000164951ENST00000520614E5RHB9
ENSG00000164951ENST00000520728Q9P0J1
ENSG00000164951ENST00000520728A0A024R9C0
ENSG00000164951ENST00000521144E5RI96

Expression (GTEx)

0
10
20
30
40
50
60

Pathways

PathwaySourceExternal ID
MetabolismREACTOMER-HSA-1430728
The citric acid (TCA) cycle and respiratory electron transportREACTOMER-HSA-1428517
Pyruvate metabolism and Citric Acid (TCA) cycleREACTOMER-HSA-71406
Pyruvate metabolismREACTOMER-HSA-70268
Regulation of pyruvate dehydrogenase (PDH) complexREACTOMER-HSA-204174

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
244860172014Tyr phosphorylation of PDP1 toggles recruitment between ACAT1 and SIRT3 to regulate the pyruvate dehydrogenase complex.67
96513651998Isoenzymes of pyruvate dehydrogenase phosphatase. DNA-derived amino acid sequences, expression, and regulation.64
161889092006Decreased PDH activation and glycogenolysis during exercise following fat adaptation with carbohydrate restoration.32
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
83964211993Molecular cloning and expression of the catalytic subunit of bovine pyruvate dehydrogenase phosphatase and sequence similarity with protein phosphatase 2C.14
249625782014Tyr-94 phosphorylation inhibits pyruvate dehydrogenase phosphatase 1 and promotes tumor growth.13
158974762005Down-regulation of pyruvate dehydrogenase phosphatase in obese subjects is a defect that signals insulin resistance.7
216808802011Exercise-induced pyruvate dehydrogenase activation is not affected by 7 days of bed rest.7
1728501975Pyruvate dehydrogenase phosphatase deficiency: a cause of congenital chronic lactic acidosis in infancy.4
13275851992Decrease of pyruvate dehydrogenase phosphatase activity in patients with congenital lactic acidemia.2

Citation

Dessen P

PDP1 (pyruvate dehydrogenase phosphatase catalytic subunit 1)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/47314/pdp1