Bos taurus Gene: BT.105088 | |||||||||||||||||
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Summary | |||||||||||||||||
InnateDB Gene | IDBG-632271.3 | ||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||
Gene Symbol | BT.105088 | ||||||||||||||||
Gene Name | dihydrolipoyl dehydrogenase, mitochondrial | ||||||||||||||||
Synonyms | |||||||||||||||||
Species | Bos taurus | ||||||||||||||||
Ensembl Gene | ENSBTAG00000001908 | ||||||||||||||||
Encoded Proteins |
Dihydrolipoyl dehydrogenase
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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 ENSG00000091140:
This gene encodes the L protein of the mitochondrial glycine cleavage system. The L protein, also named dihydrolipoamide dehydrogenase, is also a component of the pyruvate dehydrogenase complex, the alpha-ketoglutarate dehydrogenase complex, and the branched-chain alpha-keto acide dehydrogenase complex. Mutations in this gene have been identified in patients with E3-deficient maple syrup urine disease and lipoamide dehydrogenase deficiency. [provided by RefSeq, Jul 2008] This gene encodes a member of the class-I pyridine nucleotide-disulfide oxidoreductase family. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. In homodimeric form, the encoded protein functions as a dehydrogenase and is found in several multi-enzyme complexes that regulate energy metabolism. However, as a monomer, this protein can function as a protease. Mutations in this gene have been identified in patients with E3-deficient maple syrup urine disease and lipoamide dehydrogenase deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014] |
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Gene Information | |||||||||||||||||
Type | Protein coding | ||||||||||||||||
Genomic Location | Chromosome 4:49230967-49257713 | ||||||||||||||||
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 25 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
Mus musculus
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Gene ID
Gene Order
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Pathway Predictions based on Human Orthology Data | |||||||||||||||||
NETPATH | |||||||||||||||||
REACTOME |
Branched-chain amino acid catabolism pathway
Lysine catabolism pathway
Regulation of pyruvate dehydrogenase (PDH) complex pathway
Pyruvate metabolism pathway
Citric acid cycle (TCA cycle) pathway
Pyruvate metabolism and Citric Acid (TCA) cycle pathway
Metabolism of amino acids and derivatives 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
Metabolism of amino acids and derivatives pathway
Pyruvate metabolism pathway
Pyruvate metabolism and Citric Acid (TCA) cycle pathway
Lysine catabolism pathway
Citric acid cycle (TCA cycle) pathway
Branched-chain amino acid catabolism pathway
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KEGG |
Glycolysis / Gluconeogenesis pathway
Pyruvate metabolism pathway
Valine, leucine and isoleucine degradation pathway
Citrate cycle (TCA cycle) pathway
Glycine, serine and threonine metabolism pathway
Valine, leucine and isoleucine degradation pathway
Citrate cycle (TCA cycle) pathway
Glycolysis / Gluconeogenesis pathway
Glycine, serine and threonine metabolism pathway
Pyruvate metabolism pathway
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INOH |
Citrate cycle pathway
Pyruvate metabolism pathway
Glycine Serine metabolism pathway
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PID NCI | |||||||||||||||||
Cross-References | |||||||||||||||||
SwissProt | |||||||||||||||||
TrEMBL | F1N206 | ||||||||||||||||
UniProt Splice Variant | |||||||||||||||||
Entrez Gene | 533910 | ||||||||||||||||
UniGene | Bt.105088 | ||||||||||||||||
RefSeq | NM_001206170 | ||||||||||||||||
HUGO | |||||||||||||||||
OMIM | |||||||||||||||||
CCDS | |||||||||||||||||
HPRD | |||||||||||||||||
IMGT | |||||||||||||||||
EMBL | DAAA02010596 | ||||||||||||||||
GenPept | |||||||||||||||||
RNA Seq Atlas | 533910 | ||||||||||||||||