Version 5.4
| Bos taurus Gene: BCKDHB | |||||||||
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| Summary | |||||||||
| InnateDB Gene | IDBG-630116.3 | ||||||||
| Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||
| Gene Symbol | BCKDHB | ||||||||
| Gene Name | 2-oxoisovalerate dehydrogenase subunit beta, mitochondrial precursor | ||||||||
| Synonyms | |||||||||
| Species | Bos taurus | ||||||||
| Ensembl Gene | ENSBTAG00000012096 | ||||||||
| Encoded Proteins |
2-oxoisovalerate dehydrogenase subunit beta, mitochondrial precursor
2-oxoisovalerate dehydrogenase subunit beta, mitochondrial precursor
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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 ENSG00000083123:
Branched-chain keto acid dehydrogenase is a multienzyme complex associated with the inner membrane of mitochondria, and functions in the catabolism of branched-chain amino acids. The complex consists of multiple copies of 3 components: branched-chain alpha-keto acid decarboxylase (E1), lipoamide acyltransferase (E2) and lipoamide dehydrogenase (E3). This gene encodes the E1 beta subunit, and mutations therein have been associated with maple syrup urine disease (MSUD), type 1B, a disease characterized by a maple syrup odor to the urine in addition to mental and physical retardation, and feeding problems. Alternative splicing at this locus results in transcript variants with different 3' non-coding regions, but encoding the same isoform. [provided by RefSeq, Jul 2008] Branched-chain keto acid dehydrogenase is a multienzyme complex associated with the inner membrane of mitochondria, and functions in the catabolism of branched-chain amino acids. The complex consists of multiple copies of 3 components: branched-chain alpha-keto acid decarboxylase (E1), lipoamide acyltransferase (E2) and lipoamide dehydrogenase (E3). This gene encodes the E1 beta subunit, and mutations therein have been associated with maple syrup urine disease (MSUD), type 1B, a disease characterized by a maple syrup odor to the urine in addition to mental and physical retardation, and feeding problems. Alternative splicing at this locus results in transcript variants with different 3\' non-coding regions, but encoding the same isoform. [provided by RefSeq, Jul 2008] |
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| Gene Information | |||||||||
| Type | Protein coding | ||||||||
| Genomic Location | Chromosome 9:20073014-20335161 | ||||||||
| 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 1 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 |
Branched-chain amino acid catabolism pathway
Metabolism of amino acids and derivatives pathway
Metabolism pathway
Metabolism pathway
Metabolism of amino acids and derivatives pathway
Branched-chain amino acid catabolism pathway
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| KEGG |
Valine, leucine and isoleucine degradation pathway
Valine, leucine and isoleucine degradation pathway
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| INOH | |||||||||
| PID NCI | |||||||||
| Cross-References | |||||||||
| SwissProt | |||||||||
| TrEMBL | |||||||||
| UniProt Splice Variant | |||||||||
| Entrez Gene | |||||||||
| UniGene | Bt.5412 | ||||||||
| RefSeq | NM_174507 | ||||||||
| HUGO | |||||||||
| OMIM | |||||||||
| CCDS | |||||||||
| HPRD | |||||||||
| IMGT | |||||||||
| EMBL | |||||||||
| GenPept | |||||||||
| RNA Seq Atlas | |||||||||