Version 5.4
| Homo sapiens Gene: PDHX | |||||||||||||||||||
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| Summary | |||||||||||||||||||
| InnateDB Gene | IDBG-39515.6 | ||||||||||||||||||
| Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||
| Gene Symbol | PDHX | ||||||||||||||||||
| Gene Name | pyruvate dehydrogenase complex, component X | ||||||||||||||||||
| Synonyms | DLDBP; E3BP; OPDX; PDX1; proX | ||||||||||||||||||
| Species | Homo sapiens | ||||||||||||||||||
| Ensembl Gene | ENSG00000110435 | ||||||||||||||||||
| Encoded Proteins |
pyruvate dehydrogenase complex, component X
pyruvate dehydrogenase complex, component X
pyruvate dehydrogenase complex, component X
pyruvate dehydrogenase complex, component X
pyruvate dehydrogenase complex, component X
pyruvate dehydrogenase complex, component X
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| Protein Structure | |||||||||||||||||||
| Useful resources | Stemformatics EHFPI ImmGen | ||||||||||||||||||
| Entrez Gene | |||||||||||||||||||
| Summary |
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] 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] |
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| Gene Information | |||||||||||||||||||
| Type | Protein coding | ||||||||||||||||||
| Genomic Location | Chromosome 11:34915829-35020591 | ||||||||||||||||||
| Strand | Forward strand | ||||||||||||||||||
| Band | p13 | ||||||||||||||||||
| Transcripts | |||||||||||||||||||
| Interactions | |||||||||||||||||||
| Number of Interactions |
This gene and/or its encoded proteins are associated with 18 experimentally validated interaction(s) in this database.
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| Gene Ontology | |||||||||||||||||||
Molecular Function |
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| Biological Process |
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| Cellular Component |
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| Orthologs | |||||||||||||||||||
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Species
Mus musculus
Bos taurus
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Gene ID
Gene Order
Not yet available
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| Pathways | |||||||||||||||||||
| NETPATH | |||||||||||||||||||
| REACTOME |
Regulation of pyruvate dehydrogenase (PDH) complex pathway
Pyruvate metabolism pathway
Pyruvate metabolism and Citric Acid (TCA) cycle pathway
The citric acid (TCA) cycle and respiratory electron transport pathway
Metabolism pathway
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| KEGG | |||||||||||||||||||
| INOH |
Butanoate metabolism pathway
Pyruvate metabolism pathway
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| PID NCI | |||||||||||||||||||
| Cross-References | |||||||||||||||||||
| SwissProt | |||||||||||||||||||
| TrEMBL | E9PLU0 | ||||||||||||||||||
| UniProt Splice Variant | |||||||||||||||||||
| Entrez Gene | 8050 | ||||||||||||||||||
| UniGene | Hs.502315 | ||||||||||||||||||
| RefSeq | NM_001135024 NM_001166158 NM_003477 | ||||||||||||||||||
| HUGO | HGNC:21350 | ||||||||||||||||||
| OMIM | 608769 | ||||||||||||||||||
| CCDS | CCDS44569 CCDS53616 CCDS7896 | ||||||||||||||||||
| HPRD | 02002 | ||||||||||||||||||
| IMGT | |||||||||||||||||||
| EMBL | AC107928 AL138810 AL356215 | ||||||||||||||||||
| GenPept | |||||||||||||||||||
| RNA Seq Atlas | 8050 | ||||||||||||||||||