PDHA1 pyruvate dehydrogenase (lipoamide) alpha 1 [Homo sapiens (human)]
| Gene Symbol | PDHA1 |
| Entrez Gene ID | 5160 |
| Full Name | pyruvate dehydrogenase (lipoamide) alpha 1 |
| Synonyms | PDHA, PDHCE1A, PHE1A |
| Gene Type | protein-coding |
| Organism | Homo sapiens (human) |
| Genome |
X Xp22.1 |
| 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 alpha 1 subunit containing the E1 active site, and plays a key role in the function of the PDH complex. Mutations in this gene are associated with pyruvate dehydrogenase E1-alpha deficiency and X-linked Leigh syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. |
| Disorder | MIM: 300502 Pyruvate dehydrogenase deficiency, 312170 (3); Leigh syndrome, |
| mRNA | NM_000284, 291084749 |
| Protein | NP_000275, 4505685 |
| Product | pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial isoform 1 precursor |
| RefSeq Status | REVIEWED |
| mRNA | NM_001173454, 291084741 |
| Protein | NP_001166925, 291084742 |
| Product | pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial isoform 2 precursor |
| RefSeq Status | REVIEWED |
| mRNA | NM_001173455, 291084743 |
| Protein | NP_001166926, 291084744 |
| Product | pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial isoform 3 precursor |
| RefSeq Status | REVIEWED |
| mRNA | NM_001173456, 291084756 |
| Protein | NP_001166927, 291084757 |
| Product | pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial isoform 4 precursor |
| RefSeq Status | REVIEWED |
| hsa00020 | Citrate cycle (TCA cycle) |
| hsa00010 | Glycolysis / Gluconeogenesis |
| hsa00650 | Butanoate metabolism |
| hsa00620 | Pyruvate metabolism |
| hsa00290 | Valine, leucine and isoleucine biosynthesis |
| hsa01100 | Metabolic pathways |
WikiPathways
| WP528 | Acetylcholine Synthesis |
| WP78 | TCA Cycle |
| WP534 | Glycolysis and Gluconeogenesis |
Reactome
| REACT_1046 | Pyruvate metabolism and Citric Acid (TCA) cycle |
| REACT_12528 | Regulation of pyruvate dehydrogenase (PDH) complex |
| REACT_2071 | Pyruvate metabolism |
| Homo sapiens (human) | PDHA1 | NP_000275.1 |
| Pan troglodytes (chimpanzee) | PDHA1 | XP_520963.2 |
| Canis lupus familiaris (dog) | PDHA1 | XP_537975.2 |
| Bos taurus (cattle) | PDHA1 | NP_001094516.1 |
| Mus musculus (house mouse) | Pdha1 | NP_032836.1 |
| Rattus norvegicus (Norway rat) | LOC685778 | XP_001060918.1 |
| Gallus gallus (chicken) | PDHA1 | NP_001012562.1 |
| Danio rerio (zebrafish) | pdha1a | NP_998558.1 |
| Danio rerio (zebrafish) | pdha1b | NP_001002399.1 |
| Drosophila melanogaster (fruit fly) | l(1)G0334 | NP_572181.4 |
| ID | Name | Evidence |
| GO:0006090 | pyruvate metabolic process | TAS |
| GO:0006096 | glycolysis | IEA |
| GO:0010510 | regulation of acetyl-CoA biosynthetic process from pyruvate | EXP |
Component
| ID | Name | Evidence |
| GO:0005739 | mitochondrion | IEA |
| GO:0005759 | mitochondrial matrix | TAS |
Function
| ID | Name | Evidence |
| GO:0004739 | pyruvate dehydrogenase (acetyl-transferring) activity | IEA |
| GO:0005515 | protein binding | IPI |
| GO:0016491 | oxidoreductase activity | IEA |
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