Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
branched chain keto acid dehydrogenase E1 subunit alpha
Summary
- Gene Symbol
-
- BCKDHA
- Aliases
-
- MSU
- maple syrup urine disease
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- 3D-structure
- Acetylation
- Alternative splicing
- Direct protein sequencing
- Disease variant
- Maple syrup urine disease
- Metal-binding
- Mitochondrion
- Oxidoreductase
- Phosphoprotein
- Potassium
- Reference proteome
- Thiamine pyrophosphate
- Transit peptide
- Proteins
Gene Ontology (GO)
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| oxoglutarate dehydrogenase complex | ||
| mitochondrial matrix | ||
| mitochondrion |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity | ||
| 2-oxoisovalerate dehydrogenase (acylating) activity | ||
| carboxy-lyase activity |
|
|
| metal ion binding | ||
| 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:0040085 | bacterial sepsis | |
| DOID:0050589 | inflammatory bowel disease | |
| DOID:0060192 | Crohn's colitis | |
| DOID:0110892 | inflammatory bowel disease 1 | |
| DOID:0111414 | trichohepatoenteric syndrome | |
| DOID:0111415 | trichohepatoenteric syndrome 1 | |
| DOID:1059 | intellectual disability | |
| DOID:11832 | visual epilepsy | |
| DOID:12385 | shigellosis | |
| DOID:13189 | gout |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000738 | Hallucinations |
| HP:0001249 | Intellectual disability |
| HP:0001250 | Seizure |
| HP:0001251 | Ataxia |
| HP:0001252 | Hypotonia |
| HP:0001254 | Lethargy |
| HP:0001259 | Coma |
| HP:0001276 | Hypertonia |
| HP:0001290 | Generalized hypotonia |
| Disease ID | Disease Name |
|---|---|
| OMIM:248600 |
|
PubChem Disease
- GHR Health Conditions
- MedGen Diseases
- OMIM Phenotypes
- KEGG Diseases
LIPID MAPS Gene / Proteome Database
- LMPD ID
- LMP005481
- Gene Name
- branched chain keto acid dehydrogenase E1, alpha polypeptide
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 176716 | WB:WBGene00012713 | ||
| 41149 | FB:FBgn0037709 | ||
| 100184456 | CIOIN06972 | ||
| 102364931 | LATCH19141 | ||
| 554124 | ZFIN:ZDB-GENE-050522-376 | DANRE13554 | |
| 124627911 | ICTPU27917 | ||
| 113589579 | ELEEL43389 | ||
| 106613373 | SALSA141194 | ||
| 115206704 | SALTR110376 | ||
| 115560688 | GADMO17510 |
