Mus musculus Gene: Pdhx | |||||||||||||||||||||||
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Summary | |||||||||||||||||||||||
InnateDB Gene | IDBG-193701.6 | ||||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||
Gene Symbol | Pdhx | ||||||||||||||||||||||
Gene Name | pyruvate dehydrogenase complex, component X | ||||||||||||||||||||||
Synonyms | AI481367; E3bp; Pdx1 | ||||||||||||||||||||||
Species | Mus musculus | ||||||||||||||||||||||
Ensembl Gene | ENSMUSG00000010914 | ||||||||||||||||||||||
Encoded Proteins |
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 |
This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000110435:
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 2:103021075-103073513 | ||||||||||||||||||||||
Strand | Reverse strand | ||||||||||||||||||||||
Band | E2 | ||||||||||||||||||||||
Transcripts |
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Interactions | |||||||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 6 experimentally validated interaction(s) in this database.
They are also associated with 13 interaction(s) predicted by orthology.
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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 | |||||||||||||||||||||||
Species
Homo sapiens
Bos taurus
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Gene ID
Gene Order
Not yet available
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Pathways | |||||||||||||||||||||||
NETPATH | |||||||||||||||||||||||
REACTOME |
The citric acid (TCA) cycle and respiratory electron transport pathway
Regulation of pyruvate dehydrogenase (PDH) complex pathway
Metabolism pathway
Pyruvate metabolism pathway
Pyruvate metabolism and Citric Acid (TCA) cycle pathway
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KEGG | |||||||||||||||||||||||
INOH | |||||||||||||||||||||||
PID NCI | |||||||||||||||||||||||
Pathway Predictions based on Human Orthology Data | |||||||||||||||||||||||
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
Regulation of pyruvate dehydrogenase (PDH) complex pathway
The citric acid (TCA) cycle and respiratory electron transport pathway
Pyruvate metabolism pathway
Metabolism pathway
Pyruvate metabolism and Citric Acid (TCA) cycle pathway
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KEGG | |||||||||||||||||||||||
INOH |
Butanoate metabolism pathway
Pyruvate metabolism pathway
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PID NCI | |||||||||||||||||||||||
Cross-References | |||||||||||||||||||||||
SwissProt | |||||||||||||||||||||||
TrEMBL | A2AWH7 | ||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||
Entrez Gene | 27402 | ||||||||||||||||||||||
UniGene | Mm.315011 | ||||||||||||||||||||||
RefSeq | NM_175094 | ||||||||||||||||||||||
OMIM | |||||||||||||||||||||||
CCDS | CCDS16473 | ||||||||||||||||||||||
HPRD | |||||||||||||||||||||||
IMGT | |||||||||||||||||||||||
MGI ID | MGI:1351627 | ||||||||||||||||||||||
MGI Symbol | Pdhx | ||||||||||||||||||||||
EMBL | AL954375 | ||||||||||||||||||||||
GenPept | |||||||||||||||||||||||
RNA Seq Atlas | 27402 | ||||||||||||||||||||||