|
Metazoan complexes |
Emili & Marcotte labs |
Please wait while page loads....
- Home
-
H.sapiens
-
M.musculus
-
D.melanogaster
-
C.elegans
-
S.purpuratus
-
Conserved map
-
PPI Projections
- Download
- Help
- Contact
Details of ACAT1 gene in Homo sapiens
IDs | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
|
| ACAT1 | ACAT,MAT | P24752 | THIL_HUMAN | 38 | ENSG00000075239 | Acetyl-CoA acetyltransferase, mitochondrial | SPROT | |
Disease | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Disease | OMIM id | ||||||||
| 3-ketothiolase deficiency (3KTD) [MIM:203750]: An inborn error of isoleucine catabolism characterized by intermittent ketoacidotic attacks associated with unconsciousness. Some patients die during an attack or are mentally retarded. Urinary excretion of 2-methyl-3-hydroxybutyric acid, 2-methylacetoacetic acid, triglylglycine, butanone is increased. It seems likely that the severity of this disease correlates better with the environmental or acquired factors than with the ACAT1 genotype. Note=The disease is caused by mutations affecting the gene represented in this entry. | 203750 | ||||||||
Phenotypes
Abdominal symptom, Abnormality of acid-base homeostasis, Abnormality of fluid regulation, Abnormality of higher mental function, Abnormality of metabolism/homeostasis, Abnormality of the abdomen, Abnormality of the central nervous system, Abnormality of the nervous system, Acidosis, All, Autosomal recessive inheritance, Cognitive impairment, Dehydration, Episodic ketoacidosis, Intellectual disability, Ketoacidosis, Ketosis, Mode of inheritance, Nausea and vomiting, Phenotypic abnormality, Vomiting.
Orthologs in other species | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
| Acat1 | CG10932 | kat-1... | --- | ||||||
| Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
Complex ID | Corum | BioGrid | IRefWeb | Novelty |
|---|---|---|---|---|---|---|---|---|---|
| ACAT1 | SIGMAR1 | 0.314525031 | ACAT1 | SIGMAR1 | cpx469 | no | no | no | Novel |
| Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
|---|---|---|---|---|
| ERCC1 | ACAT1 | 0.081297225 | ERCC1 | ACAT1 |
| ACAT1 | ACAA2 | 0.127756525 | ACAT1 | ACAA2 |
| ACAT1 | DLD | 0.073770042 | ACAT1 | DLD |
| ATP1B1 | ACAT1 | 0.161684475 | ATP1B1 | ACAT1 |
| ACAT1 | CRIP1 | 0.081083222 | ACAT1 | CRIP1 |
| ACAT1 | ERCC2 | 0.114151853 | ACAT1 | ERCC2 |
| FUS | ACAT1 | 0.086085161 | FUS | ACAT1 |
| ACAT1 | ILVBL | 0.086990451 | ACAT1 | ILVBL |
| ACAT1 | ABCB7 | 0.092434368 | ACAT1 | ABCB7 |
| ACAT1 | DDB1 | 0.073536763 | ACAT1 | DDB1 |
| CYCS | ACAT1 | 0.218608344 | CYCS | ACAT1 |
| EWSR1 | ACAT1 | 0.086727669 | EWSR1 | ACAT1 |
| ACAT1 | UQCRFS1 | 0.143426037 | ACAT1 | UQCRFS1 |
| ACAT1 | SFXN3 | 0.103748013 | ACAT1 | SFXN3 |
| SFPQ | ACAT1 | 0.075913588 | SFPQ | ACAT1 |
| PTBP1 | ACAT1 | 0.073119538 | PTBP1 | ACAT1 |
| ACAT1 | DUS3L | 0.089038279 | ACAT1 | DUS3L |
| UGT3A2 | ACAT1 | 0.083741739 | UGT3A2 | ACAT1 |
| ACAT1 | SFXN1 | 0.076124369 | ACAT1 | SFXN1 |
| UQCRQ | ACAT1 | 0.118228827 | UQCRQ | ACAT1 |
| EEF1A1 | ACAT1 | 0.072928853 | EEF1A1 | ACAT1 |
| ATP1B3 | ACAT1 | 0.103082606 | ATP1B3 | ACAT1 |