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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
branched chain keto acid dehydrogenase E1 subunit beta
Summary
- Gene Symbol
-
- BCKDHB
- Aliases
-
- 2-oxoisovalerate dehydrogenase subunit beta, mitochondrial
- maple syrup urine disease
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- 3D-structure
- Acetylation
- Alternative splicing
- Direct protein sequencing
- Disease variant
- Lipid metabolism
- Maple syrup urine disease
- Mitochondrion
- Oxidoreductase
- Reference proteome
- Signal
- Transit peptide
- Proteins
| UniProt | Protein Name |
|---|---|
| B4E2N3 |
|
| P21953 |
|
| A0A140VKB3 |
|
| B7ZB80 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| lipid metabolic process | ||
| response to glucocorticoid | ||
| response to cAMP | ||
| response to nutrient | ||
| branched-chain amino acid catabolic process |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| oxoglutarate dehydrogenase complex | ||
| mitochondrial matrix | ||
| mitochondrion | ||
| nucleolus | ||
| nucleoplasm |
| GO Term | Evidence Code | PMID |
|---|---|---|
| 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity | ||
| 2-oxoisovalerate dehydrogenase (acylating) activity | ||
| protein binding | ||
| protein-containing complex 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:0080522 | thyroid gland anaplastic carcinoma | |
| DOID:0110045 | Alzheimer's disease 12 | |
| DOID:1059 | intellectual disability | |
| DOID:10608 | celiac disease | |
| DOID:10787 | premature menopause | |
| DOID:11832 | visual epilepsy | |
| DOID:162 | cancer | |
| DOID:1793 | pancreatic cancer | |
| DOID:1826 | epilepsy | |
| DOID:2043 | hepatitis B |
PubChem Disease
- GHR Health Conditions
- MedGen Diseases
- OMIM Phenotypes
- KEGG Diseases
LIPID MAPS Gene / Proteome Database
- LMPD ID
- LMP003836
- Gene Name
- branched chain keto acid dehydrogenase E1, beta polypeptide
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 172539 | WB:WBGene00006518 | ||
| 3355069 | FB:FBgn0039993 | ||
| 100179963 | CIOIN03519 | ||
| 103186186 | CALMI34040 | ||
| 569980 | ZFIN:ZDB-GENE-030124-2 | ||
| 103035891 | ASTMX11425 | ||
| 108270547 | ICTPU14386 | ||
| 113572547 | ELEEL03569 | ||
| 115175927 | SALTR42457 | ||
| 115177377 | SALTR85167 |
