PDP1 - pyruvate dehydrogenase phosphatase catalytic subunit 1 Gene

Also Known as PDH; PDP; PDPC; PPM2A; PPM2C

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 54704

About PDP1

Cytogenetic location: 8q22.1 Genomic coordinates (GRCh38): 8:93,916,923-93,926,068 (from NCBI)

This gene has 10 transcripts (splice variants), 203 orthologues, 16 paralogues and is associated with 2 phenotypes. Broad expression in adrenal (RPKM 28.1), brain (RPKM 24.1) and 24 other tissues.

Summary

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 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. Mutation in this gene causes pyruvate dehydrogenase Phosphatase deficiency. Multiple alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Jun 2009]

PDP1 Products (4)

mRNA	Protein	Name
NM_001161779.2	NP_001155251.1	pyruvate dehyrogenase phosphatase catalytic subunit 1 isoform 2
NM_001161780.2	NP_001155252.1	pyruvate dehyrogenase phosphatase catalytic subunit 1 isoform 2
NM_001161781.2	NP_001155253.1	pyruvate dehyrogenase phosphatase catalytic subunit 1 isoform 3
NM_018444.4	NP_060914.2	pyruvate dehyrogenase phosphatase catalytic subunit 1 isoform 3

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables [pyruvate dehydrogenase (acetyl-transferring)]-phosphatase activity	IDA IDA: Inferred from direct assay	15554715	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	25416956	GOA
enables protein serine/threonine phosphatase activity	IDA IDA: Inferred from direct assay	20801214	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in peptidyl-threonine dephosphorylation	IDA IDA: Inferred from direct assay	20801214	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in mitochondrion	IDA IDA: Inferred from direct assay	19184109	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PDP1 Protein Structure

PP2C

0
100
200
300
400
500
537 a.a.

Protein Preferred Names	Protein Names
pyruvate dehyrogenase phosphatase catalytic subunit 1	PDP 1

PDP1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	PDP1	Q9P0J1	KRTAP6-2	Homo sapiens	Q3LI66	Y2H Array	32296183
Intra	PDP1	Q9P0J1	KRTAP6-2	Homo sapiens	Q3LI66	Y2H Prey Pooling	32296183
Intra	PDP1	Q9P0J1	MEOX2	Homo sapiens	Q6FHY5	Y2H Array	32296183
Intra	PDP1	Q9P0J1	MEOX2	Homo sapiens	Q6FHY5	Y2H Prey Pooling	32296183
Intra	PDP1	Q9P0J1	INCA1	Homo sapiens	Q0VD86	Y2H Prey Pooling	32296183
Intra	PDP1	Q9P0J1	INCA1	Homo sapiens	Q0VD86	Y2H Array	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

PDP1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P811047	PDP1 Antibody	WB, ICC/IF	Human, Mouse

Related Diseases

Diseases	Alias
Pyruvate Dehydrogenase Phosphatase Deficiency	Lactic Acidemia With Pyruvate Dehydrogenase Phosphatase Deficiency PDHPD Pdh Phosphatase Deficiency PDP DEFICIENCY
Lactic Acidosis	Acidosis, Lactic Acidosis Lactic
Typhoidal Tularemia
Oculoglandular Tularemia
Sarcosinemia	Sarcosine Dehydrogenase Complex Deficiency Sard Deficiency Sardh Deficiency SARCOS Hypersarcosinemia Sardhd Demethylation Defect Of N-Methylglycine
Gastrointestinal Tularemia	Enteric Tularemia Intestinal Tularaemia
Tularemia	Francisella Tularensis Infection Deerfly Fever Lemming Fever Ohara Disease Pahvant Valley Plague Rabbit Fever Yatobyo
Ulceroglandular Tularemia
Pneumonic Tularemia	Pulmonary Tularemia Bronchopneumonic Tularemia Pneumonic Tularaemia
Metabolic Acidosis
Leigh Syndrome	Leigh Disease Infantile Subacute Necrotizing Encephalopathy Leigh Syndrome Due To Mitochondrial Complex Iv Deficiency LS Sne Leigh'S Disease Leigh Syndrome Due To Mitochondrial Complex I Deficiency Necrotizing Encephalopathy, Infantile Subacute, Of Leigh Subacute Necrotizing Encephalomyelopathy Necrotizing Encephalopathy Infantile Subacute Of Leigh Leigh Syndrome Due To Mitochondrial Complex Iii Deficiency Infantile Necrotizing Encephalomyelopathy Juvenile Subacute Necrotizing Encephalomyelopathy Leigh'S Necrotizing Encephalopathy Subacute Necrotizing Encephalopathy Juvenile Subacute Necrotizing Encephalopathy Leigh Syndrome Due To Mitochondrial Complex Ii Deficiency Leigh Syndrome Due To Mitochondrial Complex V Deficiency Encephalopathy, Subacute Necrotizing, Infantile Encephalopathy, Subacute Necrotizing, Juvenile Maternally Inherited Leigh Syndrome Subacute Necrotising Encephalomyelopathy Subacute Necrotising Encephalopathy
Type 2 Diabetes Mellitus	Insulin Resistance NIDDM Type 2 Diabetes Diabetes Mellitus, Non-Insulin-Dependent T2D Noninsulin-Dependent Diabetes Mellitus Diabetes Mellitus, Type Ii Maturity-Onset Diabetes Insulin Resistance, Severe, Digenic Diabetes Mellitus, Type 2 Diabetes Mellitus, Noninsulin-Dependent Diabetes Mellitus, Noninsulin-Dependent, Association With Diabetes Mellitus, Noninsulin-Dependent, Late Onset Hypertension, Insulin Resistance-Related, Susceptibility To Insulin Resistance, Susceptibility To Non-Insulin-Dependent Diabetes Mellitus Type Ii Diabetes Mellitus Adult-Onset Diabetes Mellitus Maturity-Onset Diabetes Mellitus Diabetes Mellitus Type 2 Type Ii Diabetes Type 2 Diabetes Mellitus, Susceptibility To Diabetes, Type 2 Diabetes Mellitus, Noninsulin-Dependent, Susceptibility To Diabetes Mellitus, Non-Insulin-Dependent, Susceptibility To Diabetes Mellitus, Type 2, Susceptibility To Diabetes Mellitus, Noninsulin-Dependent, 2 Diabetes Mellitus, Type Ii, Susceptibility To Hypertension, Insulin Resistance-Related Adult-Onset Diabetes Aodm Diabetes Mellitus, Adult-Onset Diabetes Mellitus Type Ii Diabetes Mellitus Type 2, Susceptibility To Diabetes, Type Ii, Susceptibility To Diabetes Type 2 Diabetes Mellitus Adult Onset Diabetes Maturity Onset Diabetes Nonketotic Diabetes Non-Insulin Dependent Diabetes Mellitus T2dm - [Type 2 Diabetes Mellitus] Niddm - [Non Insulin Dependent Diabetes Mellitus] Dm2 Dm Type Ii Diabetic Type 2 Insulin Requiring Type 2 Diabetes Noninsulin Dependent Diabetes Non-Insulin-Dependent Diabetes Mellitus Without Complications Diabetes Due To Insulin Secretory Defect Diabetes Mellitus Due To Insulin Secretory Defect Non-Insulin-Dependent Diabetes Of The Young Senile Diabetes Nonketotic Hyperglycaemia Stable Diabetes
Primary Biliary Cholangitis	Primary Biliary Cirrhosis Biliary Liver Cirrhosis Chronic Nonsuppurative Destructive Cholangitis Familial Primary Biliary Cirrhosis Pbc Hanot Syndrome Cholestatic Cirrhosis Biliary Cirrhosis Primary Liver Cirrhosis, Biliary Hanot'S Cirrhosis Biliary Cirrhosis Pericholangiolic Biliary Cirrhosis Tannhauser-Magendantz Syndrome Hanot-Rossle Syndrome Hypertrophic Cirrhosis Todd Cirrhosis Hanot Cirrhosis Charcot Cirrhosis Mahon-Tannhauser Syndrome Toxic Cirrhosis Hypertrophic Biliary Cirrhosis Monolobular Cirrhosis Unilobar Cirrhosis Xanthomatous Biliary Cirrhosis
Diabetes Mellitus	Diabetes
Cystic Fibrosis	Mucoviscidosis CF Pseudomonas Aeruginosa, Susceptibility To Chronic Infection By, In Cystic Fibrosis Pseudomonas Aeruginosa Chronic Infection By, In Cystic Fibrosis Cystic Fibrosis Lung Disease, Modifier Of Cystic Fibrosis Of Pancreas Fibrocystic Disease Of Pancreas Cf - [Cystic Fibrosis] Cystic Fibrosis Nos Fibrocystic Disease Fibrocystic Disease Of The Pancreas Mucoviscidosis Of Pancreas Nonproliferative Fibrocystic Disease Pancreatic Cystic Fibrosis

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10285	PDP1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	PDP1	VGNC	VGNC:32713
Macaca mulatta	PDP1	VGNC	VGNC:76012
Mus musculus	PDP1	MGD	MGI:2685870
Rattus norvegicus	PDP1	RGD	RGD:620393
Canis familiaris	PDP1	VGNC	VGNC:44388
Others	PDP1	NCBI