DLAT dihydrolipoamide S-acetyltransferase [Homo sapiens (human)]
| Gene Symbol | DLAT |
| Entrez Gene ID | 1737 |
| Full Name | dihydrolipoamide S-acetyltransferase |
| Synonyms | DLTA, PDC-E2, PDCE2 |
| Gene Type | protein-coding |
| Organism | Homo sapiens (human) |
| Genome |
11 11q23.1 |
| Summary | This gene encodes component E2 of the multi-enzyme pyruvate dehydrogenase complex (PDC). PDC resides in the inner mitochondrial membrane and catalyzes the conversion of pyruvate to acetyl coenzyme A. The protein product of this gene, dihydrolipoamide acetyltransferase, accepts acetyl groups formed by the oxidative decarboxylation of pyruvate and transfers them to coenzyme A. Dihydrolipoamide acetyltransferase is the antigen for antimitochondrial antibodies. These autoantibodies are present in nearly 95% of patients with the autoimmune liver disease primary biliary cirrhosis (PBC). In PBC, activated T lymphocytes attack and destroy epithelial cells in the bile duct where this protein is abnormally distributed and overexpressed. PBC enventually leads to cirrhosis and liver failure. Mutations in this gene are also a cause of pyruvate dehydrogenase E2 deficiency which causes primary lactic acidosis in infancy and early childhood. |
| Disorder | MIM: 608770 Pyruvate dehydrogenase E2 deficiency, 245348 (3) |
| mRNA | NM_001931, 260436925 |
| Protein | NP_001922, 31711992 |
| Product | dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial precursor |
| RefSeq Status | REVIEWED |
| hsa00620 | Pyruvate metabolism |
| hsa01100 | Metabolic pathways |
| hsa00020 | Citrate cycle (TCA cycle) |
| hsa00010 | Glycolysis / Gluconeogenesis |
WikiPathways
| WP534 | Glycolysis and Gluconeogenesis |
| WP78 | TCA Cycle |
Reactome
| REACT_2071 | Pyruvate metabolism |
| REACT_1046 | Pyruvate metabolism and Citric Acid (TCA) cycle |
| REACT_12528 | Regulation of pyruvate dehydrogenase (PDH) complex |
| Homo sapiens (human) | DLAT | NP_001922.2 |
| Pan troglodytes (chimpanzee) | DLAT | XP_522180.2 |
| Canis lupus familiaris (dog) | DLAT | XP_546524.2 |
| Bos taurus (cattle) | DLAT | XP_590291.4 |
| Mus musculus (house mouse) | Dlat | NP_663589.2 |
| Rattus norvegicus (Norway rat) | Dlat | NP_112287.1 |
| Gallus gallus (chicken) | DLAT | XP_417933.2 |
| Danio rerio (zebrafish) | dlat | NP_997832.1 |
| Drosophila melanogaster (fruit fly) | CG5261 | NP_609118.1 |
| Caenorhabditis elegans | F23B12.5 | NP_506579.1 |
| Arabidopsis thaliana (thale cress) | AT3G13930 | NP_566470.1 |
| Arabidopsis thaliana (thale cress) | AT1G54220 | NP_564654.1 |
| ID | Name | Evidence |
| GO:0006085 | acetyl-CoA biosynthetic process | NAS |
| GO:0006090 | pyruvate metabolic process | TAS |
| GO:0006096 | glycolysis | IEA |
| GO:0008152 | metabolic process | IEA |
| GO:0010510 | regulation of acetyl-CoA biosynthetic process from pyruvate | EXP |
| GO:0030431 | sleep | IEA |
Component
| ID | Name | Evidence |
| GO:0005739 | mitochondrion | IEA |
| GO:0005759 | mitochondrial matrix | TAS |
| GO:0005967 | mitochondrial pyruvate dehydrogenase complex | NAS |
Function
| ID | Name | Evidence |
| GO:0004742 | dihydrolipoyllysine-residue acetyltransferase activity | NAS |
| GO:0005515 | protein binding | IPI |
| GO:0008415 | acyltransferase activity | IEA |
| GO:0016740 | transferase activity | IEA |
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