acetyl-CoA acetyltransferase 1
| UniProt | Protein Name |
|---|---|
| A0A5F9ZHL1 |
|
| A0A5F9ZHJ0 |
|
| A0A140VJX1 |
|
| A0A5F9ZI66 |
|
| P24752 |
|
| GO Term | Evidence Code | PMID |
|---|---|---|
| liver development |
|
|
| acetyl-CoA biosynthetic process |
|
|
| L-isoleucine catabolic process |
|
|
| L-isoleucine catabolic process |
|
|
| fatty acid beta-oxidation |
|
| GO Term | Evidence Code | PMID |
|---|---|---|
| mitochondrion |
|
|
| mitochondrion |
|
|
| mitochondrion |
|
|
| mitochondrion |
|
|
| mitochondrial matrix |
|
| GO Term | Evidence Code | PMID |
|---|---|---|
| acetyl-CoA C-acetyltransferase activity |
|
|
| acetyl-CoA C-acetyltransferase activity |
|
|
| acetyl-CoA C-acetyltransferase activity |
|
|
| acetyl-CoA C-acetyltransferase activity |
|
|
| acetyl-CoA C-acetyltransferase activity |
|
| Gene Ontology |
|---|
| acyltransferase activity, transferring groups other than amino-acyl groups |
| fatty acid beta-oxidation |
| transferase activity |
| InterPro |
|---|
| Thiolase, C-terminal |
| Thiolase, N-terminal |
| Thiolase, active site |
| Thiolase, acyl-enzyme intermediate active site |
| Thiolase, conserved site |
| Thiolase-like |
| Thiolase |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:2978 | carbohydrate metabolic disorder | |
| DOID:14723 | beta-ketothiolase deficiency |
| HPO ID | HPO Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000713 | Agitation |
| HP:0000741 | Apathy |
| HP:0000822 | Hypertension |
| HP:0000969 | Edema |
| HP:0000980 | Pallor |
| HP:0001249 | Intellectual disability |
| HP:0001250 | Seizure |
| HP:0001251 | Ataxia |
| HP:0001252 | Hypotonia |
| Disease ID | Disease Name |
|---|---|
| ORPHA:134 |
|
| OMIM:203750 |
|
GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.
Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
This work is licensed under Creative Commons Attribution 4.0 International
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Last updated: April 6, 2026