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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial
Summary
- UniProt ID
- P11182
- Gene Symbol
-
- DBT
- BCATE2
- BCKDHE2
- Organism
- Homo sapiens (human)
External Links
- GlyGen
- P11182
- PubChem
- P11182
- The Human Metabolome Database
- HMDBP03078
- The O-GlcNAc Database
- P11182
- RaftProt
- P11182
Annotation
- Keyword
-
- 3D-structure
- Acetylation
- Acyltransferase
- Direct protein sequencing
- Disease variant
- Lipoyl
- Maple syrup urine disease
- Mitochondrion
- Phosphoprotein
- Reference proteome
- Transit peptide
- Gene Ontology (GO)
| GO Term |
|---|
| branched-chain amino acid catabolic process |
| GO Term |
|---|
| cytoplasm |
| microtubule cytoskeleton |
| mitochondrion |
| mitochondrial matrix |
| cytosol |
| mitochondrial nucleoid |
| mitochondrial oxoglutarate dehydrogenase complex |
| GO Term |
|---|
| lipoic acid binding |
| ubiquitin protein ligase binding |
| dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity |
| acetyltransferase activity |
Sequence
MAAVRMLRTWSRNAGKLICVRYFQTCGNVHVLKPNYVCFFGYPSFKYSHPHHFLKTTAALRGQVVQFKLSDIGEGIREVTVKEWYVKEGDTVSQFDSICEVQSDKASVTITSRYDGVIKKLYYNLDDIAYVGKPLVDIETEALKDSEEDVVETPAVSHDEHTHQEIKGRKTLATPAVRRLAMENNIKLSEVVGSGKDGRILKEDILNYLEKQTGAILPPSPKVEIMPPPPKPKDMTVPILVSKPPVFTGKDKTEPIKGFQKAMVKTMSAALKIPHFGYCDEIDLTELVKLREELKPIAFARGIKLSFMPFFLKAASLGLLQFPILNASVDENCQNITYKASHNIGIAMDTEQGLIVPNVKNVQICSIFDIATELNRLQKLGSVSQLSTTDLTGGTFTLSNIGSIGGTFAKPVIMPPEVAIGALGSIKAIPRFNQKGEVYKAQIMNVSWSADHRVIDGATMSRFSNLWKSYLENPAFMLLDLK
Glycosylation Sites
| Position | Description | PubMed ID | GlyTouCan ID | Source |
|---|---|---|---|---|
|
|
G49108TO
Feature
: Glycosylation Site from GlyGen
: Glycosylation Site from UniProt
Pathway
| Pathway Name | Organism |
|---|---|
| Branched-chain amino acid catabolism | Homo sapiens |
| Mitochondrial protein degradation | Homo sapiens |
| Protein lipoylation | Homo sapiens |
| RHOH GTPase cycle | Homo sapiens |
Human Protein Atlas
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
Disease
| 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 |
