PDHB pyruvate dehydrogenase (lipoamide) beta [Homo sapiens (human)]
| Gene Symbol | PDHB |
| Entrez Gene ID | 5162 |
| Full Name | pyruvate dehydrogenase (lipoamide) beta |
| Synonyms | DKFZp564K0164, PHE1B |
| Gene Type | protein-coding |
| Organism | Homo sapiens (human) |
| Genome |
3 3p21.1-p14.2 |
| Summary | The pyruvate dehydrogenase (PDH) complex is a nuclear-encoded mitochondrial multienzyme complex that catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2), and provides the primary link between glycolysis and the tricarboxylic acid (TCA) cycle. The PDH complex is composed of multiple copies of three enzymatic components: pyruvate dehydrogenase (E1), dihydrolipoamide acetyltransferase (E2) and lipoamide dehydrogenase (E3). The E1 enzyme is a heterotetramer of two alpha and two beta subunits. This gene encodes the E1 beta subunit. Mutations in this gene are associated with pyruvate dehydrogenase E1-beta deficiency. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq]. |
| Disorder | MIM: 179060 Pyruvate dehydrogenase E1-beta deficiency (3) |
| mRNA | NM_000925, 291084856 |
| Protein | NP_000916, 156564403 |
| Product | pyruvate dehydrogenase E1 component subunit beta, mitochondrial isoform 1 precursor |
| RefSeq Status | REVIEWED |
| mRNA | NM_001173468, 291084857 |
| Protein | NP_001166939, 291084858 |
| Product | pyruvate dehydrogenase E1 component subunit beta, mitochondrial isoform 2 precursor |
| RefSeq Status | REVIEWED |
| hsa00010 | Glycolysis / Gluconeogenesis |
| hsa00290 | Valine, leucine and isoleucine biosynthesis |
| hsa00620 | Pyruvate metabolism |
| hsa00020 | Citrate cycle (TCA cycle) |
| hsa00650 | Butanoate metabolism |
| hsa01100 | Metabolic pathways |
WikiPathways
| WP78 | TCA Cycle |
| WP534 | Glycolysis and Gluconeogenesis |
Reactome
| REACT_12528 | Regulation of pyruvate dehydrogenase (PDH) complex |
| REACT_1046 | Pyruvate metabolism and Citric Acid (TCA) cycle |
| REACT_2071 | Pyruvate metabolism |
| Homo sapiens (human) | PDHB | NP_000916.2 |
| Pan troglodytes (chimpanzee) | PDHB | XP_001174213.1 |
| Canis lupus familiaris (dog) | PDHB | XP_533778.2 |
| Bos taurus (cattle) | PDHB | NP_001030512.1 |
| Mus musculus (house mouse) | Pdhb | NP_077183.1 |
| Rattus norvegicus (Norway rat) | Pdhb | NP_001007621.1 |
| Gallus gallus (chicken) | PDHB | XP_414404.1 |
| Danio rerio (zebrafish) | pdhb | NP_998319.1 |
| Drosophila melanogaster (fruit fly) | CG11876 | NP_651668.1 |
| Caenorhabditis elegans | C04C3.3 | NP_500340.1 |
| Arabidopsis thaliana (thale cress) | MAB1 | NP_199898.1 |
| ID | Name | Evidence |
| GO:0006090 | pyruvate metabolic process | TAS |
| GO:0006096 | glycolysis | IEA |
| GO:0006099 | tricarboxylic acid cycle | TAS |
| GO:0010510 | regulation of acetyl-CoA biosynthetic process from pyruvate | EXP |
Component
| ID | Name | Evidence |
| GO:0005739 | mitochondrion | IEA |
| GO:0005759 | mitochondrial matrix | TAS |
| GO:0045254 | pyruvate dehydrogenase complex | IEA |
Function
| ID | Name | Evidence |
| GO:0004739 | pyruvate dehydrogenase (acetyl-transferring) activity | IEA |
| GO:0016491 | oxidoreductase activity | IEA |
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