ACAT1
entrez
38
canonical
uniprot
P24752
canonical
ensembl
ENSG00000075239
resolver
ensp
ENSP00000265838
resolver
ensp
ENSP00000500163
resolver
ensp
ENSP00000500444
resolver
ensp
ENSP00000500490
resolver
ensp
ENSP00000500928
resolver
enst
ENST00000672284
resolver
enst
ENST00000672354
resolver
enst
ENST00000672907
resolver
enst
ENST00000673531
resolver
genesymbol
ACAT1
resolver
genesymbol_syn
ACAT
resolver
genesymbol_syn
MAT
resolver
hgnc
HGNC:93
resolver
uniprot
A0A140VJX1
resolver
uniprot
A0A5F9ZHJ0
resolver
uniprot
A0A5F9ZHL1
resolver
uniprot
A0A5F9ZI66
resolver
uniprot
B2R6H1
resolver
uniprot
G3XAB4
resolver
uniprot
Q96FG8
resolver
uniprot_entry
A0A140VJX1_HUMAN
resolver
uniprot_entry
A0A5F9ZHJ0_HUMAN
resolver
uniprot_entry
A0A5F9ZHL1_HUMAN
resolver
uniprot_entry
A0A5F9ZI66_HUMAN
resolver
uniprot_entry
THIL_HUMAN
resolver
uniprot_sec
B2R6H1
resolver
uniprot_sec
G3XAB4
resolver
uniprot_sec
Q96FG8
resolver
activity_regulation
ACTIVITY REGULATION: Activated by potassium ions, but not sodium ions. {ECO:0000269|PubMed:17371050}.
uniprot
proteins
amino_acid_sequence
MAVLAALLRSGARSRSPLLRRLVQEIRYVERSYVSKPTLKEVVIVSATRTPIGSFLGSLSLLPATKLGSIAIQGAIEKAGIPKEEVKEAYMGNVLQGGEGQAPTRQAVLGAGLPISTPCTTINKVCASGMKAIMMASQSLMCGHQDVMVAGGMESMSNVPYVMNRGSTPYGGVKLEDLIVKDGLTDVYNKIHMGSCAENTAKKLNIARNEQDAYAINSYTRSKAAWEAGKFGNEVIPVTVTVKGQPDVVVKEDEEYKRVDFSKVPKLKTVFQKENGTVTAANASTLNDGAAALVLMTADAAKRLNVTPLARIVAFADAAVEPIDFPIAPVYAASMVLKDVGLKKEDIAMWEVNEAFSLVVLANIKMLEIDPQKVNINGGAVSLGHPIGMSGARIVGHLTHALKQGEYGLASICNGGGGASAMLIQKL
uniprot
proteins
disease_involvement
DISEASE: 3-ketothiolase deficiency (3KTD) [MIM:203750]: An autosomal recessive 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:0000269|PubMed:1346617, ECO:0000269|PubMed:1715688, ECO:0000269|PubMed:7728148, ECO:0000269|PubMed:7907600, ECO:0000269|PubMed:9744475}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.3.1.9
uniprot
proteins
function
FUNCTION: This is one of the enzymes that catalyzes the last step of the mitochondrial beta-oxidation pathway, an aerobic process breaking down fatty acids into acetyl-CoA (PubMed:1715688, PubMed:7728148, PubMed:9744475). Using free coenzyme A/CoA, catalyzes the thiolytic cleavage of medium- to long-chain 3-oxoacyl-CoAs into acetyl-CoA and a fatty acyl-CoA shortened by two carbon atoms (PubMed:1715688, PubMed:7728148, PubMed:9744475). The activity of the enzyme is reversible and it can also catalyze the condensation of two acetyl-CoA molecules into acetoacetyl-CoA (PubMed:17371050). Thereby, it plays a major role in ketone body metabolism (PubMed:1715688, PubMed:17371050, PubMed:7728148, PubMed:9744475). {ECO:0000269|PubMed:1715688, ECO:0000269|PubMed:17371050, ECO:0000269|PubMed:7728148, ECO:0000269|PubMed:9744475}.
uniprot
proteins
mass_dalton
45200
uniprot
proteins
pathway_participation
PATHWAY: Lipid metabolism; fatty acid beta-oxidation. {ECO:0000269|PubMed:1715688, ECO:0000269|PubMed:7728148, ECO:0000269|PubMed:9744475}.
uniprot
proteins
post_translational_modification
PTM: Succinylation at Lys-268, adjacent to a coenzyme A binding site. Desuccinylated by SIRT5 (By similarity). {ECO:0000250}.
uniprot
proteins
protein_family
Thiolase family
uniprot
proteins
protein_family
Thiolase-like superfamily
uniprot
proteins
pubmed
1346617
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15242332
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16554811
uniprot
proteins
pubmed
1684944
uniprot
proteins
pubmed
1715688
uniprot
proteins
pubmed
17371050
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
1979337
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
7728148
uniprot
proteins
pubmed
7749408
uniprot
proteins
pubmed
7907600
uniprot
proteins
pubmed
9744475
uniprot
proteins
sequence_length
427
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:1979337}.
uniprot
proteins