| URN | urn:agi-llid:38 |
|---|---|
| Connectivity | 63 |
| Name | Acat1 |
| Description | acetyl-Coenzyme A acetyltransferase 1 |
| Notes | This gene encodes a mitochondrially localized enzyme that catalyzes the reversible formation of acetoacetyl-CoA from two molecules of acetyl-CoA. Defects in this gene are associated with 3-ketothiolase deficiency, an inborn error of isoleucine catabolism characterized by urinary excretion of 2-methyl-3-hydroxybutyric acid, 2-methylacetoacetic acid, tiglylglycine, and butanone. [provided by RefSeq] |
| Pathway | ketone bodies metabolic pathway |
|---|
| Ariadne Ontology | Aromatic aminoacid metabolism |
|---|---|
| Asp/Lys/Thr/Met/Cys metabolsm | |
| Branced aminoacid metabolism | |
| Fatty acid oxidation |
| GO Molecular Function | molecular_function |
|---|---|
| catalytic activity | |
| protein binding | |
| metal ion binding | |
| potassium ion binding | |
| transferase activity | |
| acyltransferase activity | |
| acetyltransferase activity | |
| acetyl-CoA C-acetyltransferase activity |
| GO Cellular Component | cellular_component |
|---|---|
| mitochondrion | |
| mitochondrial matrix | |
| mitochondrial inner membrane |
| GO Biological Process | biological_process |
|---|---|
| metabolic process |
| Group | Aromatic aminoacid metabolism |
|---|---|
| Asp/Lys/Thr/Met/Cys metabolsm | |
| Branced aminoacid metabolism | |
| Fatty acid oxidation | |
| cellular_component | |
| mitochondrion | |
| mitochondrial matrix | |
| mitochondrial inner membrane | |
| molecular_function | |
| catalytic activity | |
| protein binding | |
| metal ion binding | |
| potassium ion binding | |
| transferase activity | |
| acyltransferase activity | |
| acetyltransferase activity | |
| acetyl-CoA C-acetyltransferase activity | |
| biological_process | |
| metabolic process |
| Hugo ID | 93 |
|---|
| Human chromosome position | 11q22.3-q23.1 |
|---|
| LocusLink ID | 38 |
|---|---|
| 110446 | |
| 25014 |
| Alias | T2 |
|---|---|
| MAT | |
| ACAT | |
| THIL | |
| acetyl-Coenzyme A acetyltransferase 1 | |
| acetoacetyl Coenzyme A thiolase | |
| mitochondrial acetoacetyl-CoA thiolase | |
| 6330585C21Rik | |
| RATACAL | |
| Acetyl-Co A acetyltransferase 1 mitochondrial | |
| Acetyl-Co A acetyltransferase 1, mitochondrial | |
| acetyl-Coenzyme A acetyltransferase I | |
| Acetyl-CoA acetyltransferase, mitochondrial precursor | |
| mitochondrial Acetyl-Co A acetyltransferase 1 | |
| mitochondrial Acetyl-CoA acetyltransferase precursor | |
| Acetoacetyl-CoA thiolase | |
| Acat I | |
| Acat1 | |
| mitochondrial Acetyl-Co A acetyltransferase I | |
| RATACALs | |
| ACETYL-COA ACETYLTRANSFERASE, MITOCHONDRIAL PRECURSOR (ACETOACETYL-COA THIOLASE) | |
| LOC235373 |
| Organism | Homo sapiens |
|---|---|
| Mus musculus | |
| Rattus norvegicus |
| OMIM ID | 607809 |
|---|---|
| 203750 |
| Swiss-Prot Accession | B2R6H1 |
|---|---|
| P24752 | |
| Q96FG8 | |
| Q8QZT1 | |
| Q3TQP7 | |
| P17764 |
| Unigene ID | Hs.232375 |
|---|---|
| Mm.293233 | |
| Rn.4054 |
| KEGG ID | hsa:38 |
|---|---|
| mmu:110446 | |
| rno:25014 |
| EC Number | 2.3.1.9 |
|---|
| Swiss-Prot ID | THIL_HUMAN |
|---|---|
| THIL_MOUSE | |
| THIL_RAT | |
| B2R6H1_HUMAN |
| Cell Localization | Cytoplasm |
|---|---|
| Mitochondria |
| GO ID | 0003985 |
|---|---|
| 0016407 | |
| 0046872 | |
| 0030955 | |
| 0005515 | |
| 0016740 | |
| 0008152 | |
| 0005759 | |
| 0005739 | |
| 0008415 | |
| 0003824 | |
| 0005743 | |
| 0003674 | |
| 0008150 | |
| 0005575 |
| IPI ID | IPI00030363 |
|---|---|
| IPI00062003 | |
| IPI00440499 | |
| IPI00154054 | |
| IPI00324302 |
| Mouse chromosome position | 9 30.0 cM |
|---|
| Homologene ID | 6 |
|---|
| MGI ID | 87870 |
|---|
| Rat chromosome position | 8q24.1 |
|---|
| RGD ID | 2016 |
|---|