Version 5.4
| Bos taurus Gene: DLAT | |||||||||
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| Summary | |||||||||
| InnateDB Gene | IDBG-630398.3 | ||||||||
| Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||
| Gene Symbol | DLAT | ||||||||
| Gene Name | dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial | ||||||||
| Synonyms | |||||||||
| Species | Bos taurus | ||||||||
| Ensembl Gene | ENSBTAG00000010709 | ||||||||
| Encoded Proteins |
Uncharacterized protein
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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 ENSG00000150768:
This gene encodes component E2 of the multi-enzyme pyruvate dehydrogenase complex (PDC). PDC resides in the inner mitochondrial membrane and catalyzes the conversion of pyruvate to acetyl coenzyme A. The protein product of this gene, dihydrolipoamide acetyltransferase, accepts acetyl groups formed by the oxidative decarboxylation of pyruvate and transfers them to coenzyme A. Dihydrolipoamide acetyltransferase is the 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 enventually leads to cirrhosis and liver failure. Mutations in this gene are also a cause of pyruvate dehydrogenase E2 deficiency which causes primary lactic acidosis in infancy and early childhood.[provided by RefSeq, Oct 2009] This gene encodes component E2 of the multi-enzyme pyruvate dehydrogenase complex (PDC). PDC resides in the inner mitochondrial membrane and catalyzes the conversion of pyruvate to acetyl coenzyme A. The protein product of this gene, dihydrolipoamide acetyltransferase, accepts acetyl groups formed by the oxidative decarboxylation of pyruvate and transfers them to coenzyme A. Dihydrolipoamide acetyltransferase is the 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 enventually leads to cirrhosis and liver failure. Mutations in this gene are also a cause of pyruvate dehydrogenase E2 deficiency which causes primary lactic acidosis in infancy and early childhood.[provided by RefSeq, Oct 2009] |
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| Gene Information | |||||||||
| Type | Protein coding | ||||||||
| Genomic Location | Chromosome 15:22665193-22697952 | ||||||||
| Strand | Forward strand | ||||||||
| Band | |||||||||
| Transcripts |
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| Interactions | |||||||||
| Number of Interactions |
This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 23 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 | |||||||||
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Species
Homo sapiens
Mus musculus
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Gene ID
Gene Order
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| 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
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 |
Glycolysis / Gluconeogenesis pathway
Pyruvate metabolism pathway
Citrate cycle (TCA cycle) pathway
Citrate cycle (TCA cycle) pathway
Glycolysis / Gluconeogenesis pathway
Pyruvate metabolism pathway
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| INOH |
Butanoate metabolism pathway
Pyruvate metabolism pathway
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| PID NCI | |||||||||
| Cross-References | |||||||||
| SwissProt | |||||||||
| TrEMBL | F1N690 Q9TRP7 | ||||||||
| UniProt Splice Variant | |||||||||
| Entrez Gene | 512723 | ||||||||
| UniGene | Bt.8679 | ||||||||
| RefSeq | NM_001205730 XM_005215823 | ||||||||
| HUGO | |||||||||
| OMIM | |||||||||
| CCDS | |||||||||
| HPRD | |||||||||
| IMGT | |||||||||
| EMBL | DAAA02040285 | ||||||||
| GenPept | |||||||||
| RNA Seq Atlas | 512723 | ||||||||