Tbio PDHX Pyruvate dehydrogenase protein X component, mitochondrial

Protein Summary

Description

Required for anchoring dihydrolipoamide dehydrogenase (E3) to the dihydrolipoamide transacetylase (E2) core of the pyruvate dehydrogenase complexes of eukaryotes. This specific binding is essential for a functional PDH complex. The pyruvate dehydrogenase (PDH) complex is located in the mitochondrial matrix and catalyzes the conversion of pyruvate to acetyl coenzyme A. The PDH complex thereby links glycolysis to Krebs cycle. The PDH complex contains three catalytic subunits, E1, E2, and E3, two regulatory subunits, E1 kinase and E1 phosphatase, and a non-catalytic subunit, E3 binding protein (E3BP). This gene encodes the E3 binding protein subunit; also known as component X of the pyruvate dehydrogenase complex. This protein tethers E3 dimers to the E2 core of the PDH complex. Defects in this gene are a cause of pyruvate dehydrogenase deficiency which results in neurological dysfunction and lactic acidosis in infancy and early childhood. This protein is also a minor antigen for antimitochondrial antibodies. These autoantibodies are present in nearly 95% of patients with the autoimmune liver disease primary biliary cirrhosis (PBC). In PBC, activated T lymphocytes attack and destroy epithelial cells in the bile duct where this protein is abnormally distributed and overexpressed. PBC eventually leads to cirrhosis and liver failure. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Oct 2009]

Uniprot Accession IDs

• O00330
• B4DW62
• D3DR11
• E9PB14
• E9PBP7
• O60221
• Q96FV8
• Q99783

Gene Name

• PDHX

Ensembl ID

• ENST00000227868
• ENSP00000227868
• ENSG00000110435
• ENST00000430469
• ENSP00000415695
• ENST00000448838
• ENSP00000389404

Symbol

• PDX1
• E3BP
• OPDX
• PDX1
• proX
• DLDBP
• PDHXD

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
protein complex	0.89
protein domain	0.85
histone modification site profile	0.76
virus perturbation	0.76
disease perturbation	0.68

Protein Classes

PANTHER Classes

Protein / Transferase / Acyltransferase / Pyruvate Dehydrogenase Protein X Component, Mitochondrial

Protein / Transferase / Acetyltransferase / Pyruvate Dehydrogenase Protein X Component, Mitochondrial

DTO Classes

Protein / Enzyme / Transferase / Acetyltransferase / Pyruvate Dehydrogenase Protein X Component, Mitochondrial

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 424.35   (req: < 5)

Gene RIFs: 14   (req: <= 3)

Antibodies: 281   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 424.35   (req: >= 5)

Gene RIFs: 14   (req: > 3)

Antibodies: 281   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 2

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0