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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
dihydrolipoamide branched chain transacylase E2
Summary
- Gene Symbol
-
- DBT
- Aliases
-
- BCKAD-E2
- BCKDH-E2
- BCOADC-E2
- branched chain 2-oxo-acid dehydrogenase complex component E2
- dihydrolipoyllysine-residue (2-methylpropanoyl)transferase
- lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- 3D-structure
- Acetylation
- Acyltransferase
- Direct protein sequencing
- Disease variant
- Lipoyl
- Maple syrup urine disease
- Mitochondrion
- Phosphoprotein
- Proteomics identification
- Reference proteome
- Transit peptide
- Proteins
| UniProt | Protein Name |
|---|---|
| P11182 |
|
| A0A7P0T9W1 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| branched-chain amino acid catabolic process |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| cytosol | ||
| cytoplasm | ||
| oxoglutarate dehydrogenase complex |
|
|
| microtubule cytoskeleton | ||
| mitochondrial matrix |
| GO Term | Evidence Code | PMID |
|---|---|---|
| lipoic acid binding | ||
| 2-oxoisovalerate dehydrogenase (acylating) activity | ||
| ubiquitin protein ligase binding | ||
| dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity | ||
| protein binding |
GO Hierarchy
Human Protein Atlas
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
KEGG BRITE Database
Rhea
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0050835 | generalized dystonia | |
| DOID:0050841 | focal hand dystonia | |
| DOID:0060823 | syndromic X-linked intellectual disability 94 | |
| DOID:0110425 | dilated cardiomyopathy 1A | |
| DOID:1059 | intellectual disability | |
| DOID:10930 | borderline personality disorder | |
| DOID:114 | heart disease | |
| DOID:11832 | visual epilepsy | |
| DOID:12236 | primary biliary cholangitis | |
| DOID:12401 | intermittent explosive disorder |
PubChem Disease
- GHR Health Conditions
- MedGen Diseases
- OMIM Phenotypes
- KEGG Diseases
LIPID MAPS Gene / Proteome Database
- LMPD ID
- LMP001763
- Gene Name
- dihydrolipoamide branched chain transacylase E2
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 174279 | WB:WBGene00014054 | ||
| 32441 | FB:FBgn0030612 | ||
| 103184741 | CALMI30555 | ||
| 102357892 | LATCH10774 | ||
| 541388 | ZFIN:ZDB-GENE-050320-85 | DANRE22141 | |
| 103035953 | ASTMX06534 | ||
| 103036231 | ASTMX02841 | ||
| 108267843 | ICTPU32192 | ||
| 108271397 | ICTPU01291 | ||
| 113574464 | ELEEL14512 |
