| Gene Symbol | BCKDHA |
| Entrez ID | 593 |
| Uniprot ID | P12694 |
| Description | branched chain keto acid dehydrogenase E1, alpha polypeptide |
| Chromosomal Location | chr19: 41,397,460-41,425,005 |
| Ontology | GO ID | GO Term | Definition | Evidence |
|---|---|---|---|---|
|
BP |
GO:0009083 |
branched-chain amino acid catabolic process |
The chemical reactions and pathways resulting in the breakdown of amino acids containing a branched carbon skeleton, comprising isoleucine, leucine and valine. |
IDA|TAS |
|
BP |
GO:0046487 |
glyoxylate metabolic process |
The chemical reactions and pathways involving glyoxylate, the anion of glyoxylic acid, HOC-COOH. |
TAS |
|
BP |
GO:0055114 |
oxidation-reduction process |
A metabolic process that results in the removal or addition of one or more electrons to or from a substance, with or without the concomitant removal or addition of a proton or protons. |
IEA |
|
CC |
GO:0005739 |
mitochondrion |
A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration. |
IDA|TAS |
|
CC |
GO:0005759 |
mitochondrial matrix |
The gel-like material, with considerable fine structure, that lies in the matrix space, or lumen, of a mitochondrion. It contains the enzymes of the tricarboxylic acid cycle and, in some organisms, the enzymes concerned with fatty acid oxidation. |
TAS |
|
CC |
GO:0005947 |
mitochondrial alpha-ketoglutarate dehydrogenase complex |
Mitochondrial complex that possesses alpha-ketoglutarate dehydrogenase activity. |
IDA |
|
MF |
GO:0003826 |
alpha-ketoacid dehydrogenase activity |
Catalysis of an oxidation-reduction (redox) reaction involving an alpha-ketoacid. |
IDA |
|
MF |
GO:0003863 |
3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity |
Catalysis of the reaction: 3-methyl-2-oxobutanoate + lipoamide = S-(2-methylpropanoyl)dihydrolipoamide + CO2. |
IEA |
|
MF |
GO:0005515 |
protein binding |
Interacting selectively and non-covalently with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules). |
IPI |
|
MF |
GO:0016831 |
carboxy-lyase activity |
Catalysis of the nonhydrolytic addition or removal of a carboxyl group to or from a compound. |
TAS |
|
MF |
GO:0046872 |
metal ion binding |
Interacting selectively and non-covalently with any metal ion. |
IEA |
| Domain ID | Description |
|---|---|
|
IPR001017 |
Dehydrogenase, E1 component |
|
IPR029061 |
Thiamin diphosphate-binding fold |
|
IPR034616 |
2-oxoisovalerate dehydrogenase subunit alpha |
| Pathway ID | Pathway Term | Pathway Source |
|---|---|---|
|
hsa00280 |
Valine, leucine and isoleucine degradation |
KEGG |
|
hsa00640 |
Propanoate metabolism |
KEGG |
|
hsa01100 |
Metabolic pathways |
KEGG |
| UMLS CUI | UMLS Term |
|---|---|
|
C0024776 |
Maple Syrup Urine Disease |
|
C0268568 |
Classic Maple Syrup Urine Disease |
|
C0268569 |
Intermittent Maple Syrup Urine Disease |
|
C1621920 |
Intermediate Maple Syrup Urine Disease |
| Tissue | Cell Type |
|---|---|
|
adrenal gland |
glandular cells |
|
appendix |
glandular cells |
|
bone marrow |
hematopoietic cells |
|
breast |
adipocytes |
|
breast |
glandular cells |
|
breast |
myoepithelial cells |
|
bronchus |
respiratory epithelial cells |
|
cerebellum |
cells in granular layer |
|
cerebellum |
Purkinje cells |
|
cerebral cortex |
endothelial cells |
|
cerebral cortex |
neuropil |
|
cervix, uterine |
glandular cells |
|
cervix, uterine |
squamous epithelial cells |
|
colon |
endothelial cells |
|
colon |
glandular cells |
|
duodenum |
glandular cells |
|
endometrium |
glandular cells |
|
endometrium |
cells in endometrial stroma |
|
esophagus |
squamous epithelial cells |
|
fallopian tube |
glandular cells |
|
gallbladder |
glandular cells |
|
heart muscle |
myocytes |
|
kidney |
cells in glomeruli |
|
kidney |
cells in tubules |
|
liver |
hepatocytes |
|
lung |
pneumocytes |
|
lymph node |
non-germinal center cells |
|
nasopharynx |
respiratory epithelial cells |
|
oral mucosa |
squamous epithelial cells |
|
ovary |
ovarian stroma cells |
|
pancreas |
exocrine glandular cells |
|
pancreas |
islets of Langerhans |
|
parathyroid gland |
glandular cells |
|
placenta |
decidual cells |
|
placenta |
trophoblastic cells |
|
prostate |
glandular cells |
|
rectum |
glandular cells |
|
salivary gland |
glandular cells |
|
seminal vesicle |
glandular cells |
|
skeletal muscle |
myocytes |
|
skin |
fibroblasts |
|
skin |
keratinocytes |
|
skin |
Langerhans |
|
skin |
melanocytes |
|
skin |
epidermal cells |
|
small intestine |
glandular cells |
|
smooth muscle |
smooth muscle cells |
|
soft tissue |
fibroblasts |
|
spleen |
cells in red pulp |
|
spleen |
cells in white pulp |
|
stomach |
glandular cells |
|
testis |
cells in seminiferous ducts |
|
testis |
Leydig cells |
|
thyroid gland |
glandular cells |
|
tonsil |
germinal center cells |
|
tonsil |
non-germinal center cells |
|
urinary bladder |
urothelial cells |
|
vagina |
squamous epithelial cells |
| Pubmed ID | Author | Year | Title |
|---|---|---|---|
|
22617121 |
Ouandaogo et al. |
2012 |
Differences in transcriptomic profiles of human cumulus cells isolated from oocytes at GV, MI and MII stages after in vivo andin vitro oocyte maturation |
| Gene Symbol | Entrez ID | Uniprot ID | Score |
|---|---|---|---|
|
POLB |
5423 |
P06746 |
0.63 |
|
PTEN |
5728 |
P60484 |
0.63 |
|
CUL3 |
8452 |
Q13618 |
0.63 |
|
GABARAP |
11337 |
O95166 |
0.63 |
|
SIRT4 |
23409 |
Q9Y6E7 |
0.63 |
|
GABARAPL1 |
23710 |
Q9H0R8 |
0.63 |
|
PPM1K |
152926 |
Q8N3J5 |
0.63 |
|
HDAC6 |
10013 |
Q9UBN7 |
0.72 |
|
BCKDK |
10295 |
O14874 |
0.76 |
|
BCKDHB |
594 |
P21953 |
0.84 |