| Gene Information | |
|---|---|
| Gene Name | BCKDHB |
| Organism | Homo sapiens (Human) |
| Gene Length | 392 |
| Protein Names | 2-oxoisovalerate dehydrogenase subunit beta, mitochondrial (EC 1.2.4.4) (Branched-chain alpha-keto acid dehydrogenase E1 component beta chain) (BCKDE1B) (BCKDH E1-beta) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | 1714 ( ENSG00000083123 ) |
| Evolutionary Stage | Cellular_organisms |
| AlphaFoldDB | P21953 |
| Gene Card | BCKDHB |
| Uniprot ID | P21953 |
| Pfam | PF02779; PF02780 |
| In ASD | no |
| Allosteric Prediction | no (-0.491202329) |
| Ortholog in Animals | Alpaca_ BCKDHB ( ortholog_one2one ) GuineaPig_ BCKDHB ( ortholog_one2one ) Macaque_ BCKDHB ( ortholog_one2one ) Mouse_ Bckdhb ( ortholog_one2one ) Pig_ BCKDHB ( ortholog_one2one ) Rat_ Bckdhb ( ortholog_one2one ) Rabbit_ BCKDHB ( ortholog_one2one ) |
| Ohnologs | NA |
| Paralogs | PDHB, TKTL2, TKTL1, TKT |
| Tissue | NA |
| Tissue Specificity | NA |
| Pharmacological Animal Models | 0.000730(Chimpanzee);0.001000(Mouse);0.004990(Rat);NULL(Rabbit) |
| Gene Ontology (biological process) |
|
| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
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| PDB | 1DTW (X-ray 2.70A ) 1OLS (X-ray 1.85A ) 1OLU (X-ray 1.90A ) 1OLX (X-ray 2.25A ) 1U5B (X-ray 1.83A ) 1V11 (X-ray 1.95A ) 1V16 (X-ray 1.90A ) 1V1M (X-ray 2.00A ) 1V1R (X-ray 1.80A ) 1WCI (X-ray 1.84A ) 1X7W (X-ray 1.73A ) 1X7X (X-ray 2.10A ) 1X7Y (X-ray 1.57A ) 1X7Z (X-ray 1.72A ) 1X80 (X-ray 2.00A ) 2BEU (X-ray 1.89A ) 2BEV (X-ray 1.80A ) 2BEW (X-ray 1.79A ) 2BFB (X-ray 1.77A ) 2BFC (X-ray 1.64A ) 2BFD (X-ray 1.39A ) 2BFE (X-ray 1.69A ) 2BFF (X-ray 1.46A ) 2J9F (X-ray 1.88A ) |
| DBSNP | rs35470366 rs371518124 rs79761867 rs386834233 |
| Subcellular location [CC] | Mitochondrion matrix. |
| Mouse PG classification | NA |
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