acetyl-CoA acetyltransferase 1
| UniProt | Protein Name |
|---|---|
| A0A140VJX1 |
|
| P24752 |
|
| GO Term | Evidence Code | PMID |
|---|---|---|
| acetyl-CoA catabolic process | ||
| ketone body catabolic process | ||
| adipose tissue development | ||
| metanephric proximal convoluted tubule development | ||
| ketone body metabolic process |
| GO Term | Evidence Code | PMID |
|---|---|---|
| mitochondrion | ||
| mitochondrion | ||
| mitochondrion | ||
| mitochondrial matrix | ||
| endoplasmic reticulum |
| GO Term | Evidence Code | PMID |
|---|---|---|
| acetyl-CoA C-acetyltransferase activity | ||
| acetyl-CoA C-acetyltransferase activity | ||
| acetyl-CoA C-acetyltransferase activity | ||
| C-acetyltransferase activity | ||
| enzyme binding |
| 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:14723 | beta-ketothiolase deficiency | |
| DOID:2978 | carbohydrate metabolic disorder |
| 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 |
|---|---|
| OMIM:203750 |
|
| ORPHA:134 |
|
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 102347383 | LATCH04967 | ||
| 102462999 | PELSI12078 | ||
| 103040735 | ASTMX02980 | ||
| 103186520 | CALMI34851 | ||
| 103248398 | CHLSB00972 | ||
| 103257605 | CARSF16396 | ||
| 103662540 | URSMA10537 | ||
| 103731333 | NANGA11561 | ||
| 103827296 | SERCA01497 | ||
| 104660484 | RHIRO34589 |
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: December 8, 2025