InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: ACAT1

Summary

InnateDB Protein

IDBP-70139.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

ACAT1

Protein Name

acetyl-CoA acetyltransferase 1

Synonyms

ACAT; MAT; T2; THIL;

Species

Homo sapiens

Ensembl Protein

ENSP00000265838

InnateDB Gene

IDBG-70137 (ACAT1)

Protein Structure

UniProt Annotation

Function

Plays a major role in ketone body metabolism.

Subcellular Localization

Mitochondrion.

Disease Associations

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. {ECO:0000269PubMed:1346617, ECO:0000269PubMed:1715688, ECO:0000269PubMed:7728148, ECO:0000269PubMed:9744475}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 37 experimentally validated interaction(s) in this database.

Experimentally validated
Total	37 [view]
Protein-Protein	37 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003824	catalytic activity
GO:0003985	acetyl-CoA C-acetyltransferase activity
GO:0016747	transferase activity, transferring acyl groups other than amino-acyl groups
GO:0019899	enzyme binding
GO:0042803	protein homodimerization activity
GO:0046872	metal ion binding
GO:0050662	coenzyme binding

Biological Process

GO:0001889	liver development
GO:0007420	brain development
GO:0008152	metabolic process
GO:0009083	branched-chain amino acid catabolic process
GO:0009725	response to hormone
GO:0014070	response to organic cyclic compound
GO:0034641	cellular nitrogen compound metabolic process
GO:0042594	response to starvation
GO:0044255	cellular lipid metabolic process
GO:0044281	small molecule metabolic process
GO:0046950	cellular ketone body metabolic process
GO:0046951	ketone body biosynthetic process
GO:0046952	ketone body catabolic process
GO:0051260	protein homooligomerization
GO:0060612	adipose tissue development
GO:0072229	metanephric proximal convoluted tubule development