ACAT1

Functionⁱ

Plays a major role in ketone body metabolism.

Catalytic activityⁱ

2 acetyl-CoA = CoA + acetoacetyl-CoA.PROSITE-ProRule annotation1 Publication

Activity regulationⁱ

Activated by potassium ions, but not sodium ions.1 Publication

Kineticsⁱ

K_M=
4 µM for acetoacetyl coenzyme A
1 Publication
Manual assertion based on experiment inⁱ
- Ref.14
  "Crystallographic and kinetic studies of human mitochondrial acetoacetyl-CoA thiolase: the importance of potassium and chloride ions for its structure and function."
  Haapalainen A.M., Merilaeinen G., Pirilae P.L., Kondo N., Fukao T., Wierenga R.K.
  Biochemistry 46:4305-4321(2007) [PubMed] [Europe PMC] [Abstract]
  Cited for: X-RAY CRYSTALLOGRAPHY (1.85 ANGSTROMS) OF 35-427 IN COMPLEX WITH COENZYME A AND POTASSIUM, SUBUNIT, BIOPHYSICOCHEMICAL PROPERTIES, CATALYTIC ACTIVITY, ACTIVITY REGULATION.
K_M=
20 µM for coenzyme A
1 Publication
Manual assertion based on experiment inⁱ
- Ref.14
  "Crystallographic and kinetic studies of human mitochondrial acetoacetyl-CoA thiolase: the importance of potassium and chloride ions for its structure and function."
  Haapalainen A.M., Merilaeinen G., Pirilae P.L., Kondo N., Fukao T., Wierenga R.K.
  Biochemistry 46:4305-4321(2007) [PubMed] [Europe PMC] [Abstract]
  Cited for: X-RAY CRYSTALLOGRAPHY (1.85 ANGSTROMS) OF 35-427 IN COMPLEX WITH COENZYME A AND POTASSIUM, SUBUNIT, BIOPHYSICOCHEMICAL PROPERTIES, CATALYTIC ACTIVITY, ACTIVITY REGULATION.
K_M=
8 µM for 2-methylacetoacetyl coenzyme A
1 Publication
Manual assertion based on experiment inⁱ
- Ref.14
  "Crystallographic and kinetic studies of human mitochondrial acetoacetyl-CoA thiolase: the importance of potassium and chloride ions for its structure and function."
  Haapalainen A.M., Merilaeinen G., Pirilae P.L., Kondo N., Fukao T., Wierenga R.K.
  Biochemistry 46:4305-4321(2007) [PubMed] [Europe PMC] [Abstract]
  Cited for: X-RAY CRYSTALLOGRAPHY (1.85 ANGSTROMS) OF 35-427 IN COMPLEX WITH COENZYME A AND POTASSIUM, SUBUNIT, BIOPHYSICOCHEMICAL PROPERTIES, CATALYTIC ACTIVITY, ACTIVITY REGULATION.
K_M=
508 µM for acetyl coenzyme A
1 Publication
Manual assertion based on experiment inⁱ
- Ref.14
  "Crystallographic and kinetic studies of human mitochondrial acetoacetyl-CoA thiolase: the importance of potassium and chloride ions for its structure and function."
  Haapalainen A.M., Merilaeinen G., Pirilae P.L., Kondo N., Fukao T., Wierenga R.K.
  Biochemistry 46:4305-4321(2007) [PubMed] [Europe PMC] [Abstract]
  Cited for: X-RAY CRYSTALLOGRAPHY (1.85 ANGSTROMS) OF 35-427 IN COMPLEX WITH COENZYME A AND POTASSIUM, SUBUNIT, BIOPHYSICOCHEMICAL PROPERTIES, CATALYTIC ACTIVITY, ACTIVITY REGULATION.

Sites

Feature key	Position(s)	DescriptionActions	Length
Active siteⁱ	126	Acyl-thioester intermediateCurated	1
Metal bindingⁱ	219	Potassium1 Publication	1
Binding siteⁱ	219	Coenzyme A1 Publication	1
Binding siteⁱ	263	Coenzyme A1 Publication	1
Metal bindingⁱ	280	Potassium; via carbonyl oxygen1 Publication	1
Metal bindingⁱ	281	Potassium; via carbonyl oxygen1 Publication	1
Metal bindingⁱ	283	Potassium; via carbonyl oxygen1 Publication	1
Binding siteⁱ	284	Coenzyme A1 Publication	1
Metal bindingⁱ	381	Potassium; via carbonyl oxygen1 Publication	1
Active siteⁱ	385	Proton acceptorCurated	1
Active siteⁱ	413	Proton acceptorCurated	1

GO - Molecular functionⁱ

acetyl-CoA C-acetyltransferase activity
Source: BHF-UCL
Inferred from direct assayⁱ
- 17371050
carbon-carbon lyase activity
Source: BHF-UCL
Inferred from direct assayⁱ
- 17371050
coenzyme binding Source: Ensembl
enzyme binding Source: Ensembl
ligase activity, forming carbon-carbon bonds
Source: BHF-UCL
Inferred from direct assayⁱ
- 17371050
metal ion binding Source: UniProtKB-KW
protein homodimerization activity Source: Ensembl

View the complete GO annotation on QuickGO ...

GO - Biological processⁱ

acetyl-CoA biosynthetic process
Source: BHF-UCL
Inferred from direct assayⁱ
- 17371050
acetyl-CoA catabolic process
Source: BHF-UCL
Inferred from direct assayⁱ
- 17371050
adipose tissue development Source: Ensembl
brain development Source: Ensembl
branched-chain amino acid catabolic process Source: Reactome
coenzyme A biosynthetic process
Source: BHF-UCL
Inferred from direct assayⁱ
- 17371050
coenzyme A metabolic process
Source: BHF-UCL
Inferred from direct assayⁱ
- 17371050
fatty acid beta-oxidation Source: GO_Central
isoleucine catabolic process
Source: BHF-UCL
Inferred from mutant phenotypeⁱ
- 1979337
- 8103405
ketone body biosynthetic process Source: Reactome
ketone body catabolic process
Source: BHF-UCL
Inferred from mutant phenotypeⁱ
- 1979337
ketone body metabolic process
Source: BHF-UCL
Inferred by curatorⁱ
- 17371050
liver development Source: Ensembl
metanephric proximal convoluted tubule development Source: Ensembl
propionyl-CoA biosynthetic process
Source: BHF-UCL
Inferred from direct assayⁱ
- 17371050
protein homooligomerization Source: Ensembl
response to hormone Source: Ensembl
response to organic cyclic compound Source: Ensembl
response to starvation Source: Ensembl

View the complete GO annotation on QuickGO ...

Keywordsⁱ

Molecular function	Acyltransferase, Transferase
Ligand	Metal-binding, Potassium

Enzyme and pathway databases

BioCycⁱ	MetaCyc:HS01167-MONOMER
Reactomeⁱ	R-HSA-70895 Branched-chain amino acid catabolism R-HSA-77108 Utilization of Ketone Bodies R-HSA-77111 Synthesis of Ketone Bodies

Chemistry databases

SwissLipidsⁱ	SLP:000000701

SwissLipidsⁱ

SLP:000000701

Names & Taxonomyⁱ

Protein namesⁱ	Recommended name: Acetyl-CoA acetyltransferase, mitochondrial (EC:2.3.1.9) Alternative name(s): Acetoacetyl-CoA thiolase T2
Gene namesⁱ	Name:ACAT1 Synonyms:ACAT, MAT
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 11

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000075239.13
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:93 ACAT1
MIMⁱ	607809 gene
neXtProtⁱ	NX_P24752

Keywords - Cellular componentⁱ

Mitochondrion

Pathology & Biotechⁱ

Involvement in diseaseⁱ

3-ketothiolase deficiency (3KTD)4 Publications

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionAn 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.

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_007497	85	Missing in 3KTD.	1
Natural variantⁱVAR_007498	93	N → S in 3KTD; 10% activity. 1 PublicationCorresponds to variant dbSNP:rs120074145EnsemblClinVar.	1
Natural variantⁱVAR_007499	152	G → A in 3KTD. Corresponds to variant dbSNP:rs762991875EnsemblClinVar.	1
Natural variantⁱVAR_007500	158	N → D in 3KTD; no activity. 1 PublicationCorresponds to variant dbSNP:rs148639841EnsemblClinVar.	1
Natural variantⁱVAR_007501	183	G → R in 3KTD; no activity. 1 PublicationCorresponds to variant dbSNP:rs120074141EnsemblClinVar.	1
Natural variantⁱVAR_007502	297	T → M in 3KTD; 10% normal activity. 1 PublicationCorresponds to variant dbSNP:rs886041122EnsemblClinVar.	1
Natural variantⁱVAR_007503	301	A → P in 3KTD; 5% normal activity. 1 Publication	1
Natural variantⁱVAR_007504	312	I → T in 3KTD; 10% activity. 1 PublicationCorresponds to variant dbSNP:rs120074146EnsemblClinVar.	1
Natural variantⁱVAR_007505	333	A → P in 3KTD; no activity. 1 PublicationCorresponds to variant dbSNP:rs120074147EnsemblClinVar.	1
Natural variantⁱVAR_007506	379	G → V in 3KTD. Corresponds to variant dbSNP:rs120074143EnsemblClinVar.	1
Natural variantⁱVAR_007507	380	A → T in 3KTD; 7% normal activity. 1 PublicationCorresponds to variant dbSNP:rs120074140EnsemblClinVar.	1

Keywords - Diseaseⁱ

Disease mutation

Organism-specific databases

DisGeNET More...DisGeNETⁱ	38
MalaCards human disease database More...MalaCardsⁱ	ACAT1
MIMⁱ	203750 phenotype
Open Targets More...OpenTargetsⁱ	ENSG00000075239
Orphanetⁱ	134 Ketoacidosis due to beta-ketothiolase deficiency
PharmGKBⁱ	PA24431

Chemistry databases

ChEMBLⁱ	CHEMBL2616
Drug and drug target database More...DrugBankⁱ	DB00795 Sulfasalazine

Polymorphism and mutation databases

BioMutaⁱ	ACAT1
DMDMⁱ	135755

PTM / Processingⁱ

Molecule processing

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Transit peptideⁱ	1 – 33	MitochondrionBy similarityAdd BLAST		33
ChainⁱPRO_0000034085	34 – 427	Acetyl-CoA acetyltransferase, mitochondrialAdd BLAST		394

Amino acid modifications

Feature key	Position(s)	DescriptionActions	Length
Modified residueⁱ	66	N6-acetyllysine; alternateBy similarity	1
Modified residueⁱ	66	N6-succinyllysine; alternateBy similarity	1
Modified residueⁱ	78	N6-succinyllysineBy similarity	1
Modified residueⁱ	174	N6-acetyllysine; alternateCombined sources	1
Modified residueⁱ	174	N6-succinyllysine; alternateBy similarity	1
Modified residueⁱ	181	N6-acetyllysine; alternateCombined sources	1
Modified residueⁱ	181	N6-succinyllysine; alternateBy similarity	1
Modified residueⁱ	190	N6-acetyllysine; alternateBy similarity	1
Modified residueⁱ	190	N6-succinyllysine; alternateBy similarity	1
Modified residueⁱ	202	N6-acetyllysine; alternateBy similarity	1
Modified residueⁱ	202	N6-succinyllysine; alternateBy similarity	1
Modified residueⁱ	223	N6-acetyllysine; alternateBy similarity	1
Modified residueⁱ	223	N6-succinyllysine; alternateBy similarity	1
Modified residueⁱ	230	N6-acetyllysine; alternateBy similarity	1
Modified residueⁱ	230	N6-succinyllysine; alternateBy similarity	1
Modified residueⁱ	243	N6-succinyllysineBy similarity	1
Modified residueⁱ	251	N6-acetyllysineCombined sources	1
Modified residueⁱ	257	N6-acetyllysineBy similarity	1
Modified residueⁱ	263	N6-acetyllysine; alternateCombined sources	1
Modified residueⁱ	263	N6-succinyllysine; alternateBy similarity	1
Modified residueⁱ	266	N6-succinyllysineBy similarity	1
Modified residueⁱ	268	N6-succinyllysineBy similarity	1
Modified residueⁱ	273	N6-acetyllysineBy similarity	1
Modified residueⁱ	338	N6-acetyllysineBy similarity	1

Post-translational modificationⁱ

Succinylation at Lys-268, adjacent to a coenzyme A binding site. Desuccinylated by SIRT5 (By similarity).By similarity

Keywords - PTMⁱ

Acetylation

Proteomic databases

EPDⁱ	P24752
MaxQB - The MaxQuant DataBase More...MaxQBⁱ	P24752
PaxDbⁱ	P24752
PeptideAtlas More...PeptideAtlasⁱ	P24752
PRIDEⁱ	P24752
ProteomicsDBⁱ	54224
TopDownProteomicsⁱ	P24752-1 [P24752-1]

2D gel databases

REPRODUCTION-2DPAGE More...REPRODUCTION-2DPAGEⁱ	IPI00030363
UCD-2DPAGEⁱ	P24752

PTM databases

iPTMnetⁱ	P24752
PhosphoSitePlusⁱ	P24752
SwissPalmⁱ	P24752

Expressionⁱ

Gene expression databases

Bgeeⁱ	ENSG00000075239 Expressed in 233 organ(s), highest expression level in nephron tubule
CleanExⁱ	HS_ACAT1
ExpressionAtlasⁱ	P24752 baseline and differential
Genevisibleⁱ	P24752 HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	HPA004428 HPA007569

HPAⁱ

HPA004428
HPA007569

Interactionⁱ

Subunit structureⁱ

Homotetramer.1 Publication

GO - Molecular functionⁱ

enzyme binding Source: Ensembl
protein homodimerization activity Source: Ensembl

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridⁱ	106556, 69 interactors
IntActⁱ	P24752, 17 interactors
Molecular INTeraction database More...MINTⁱ	P24752
STRINGⁱ	9606.ENSP00000265838

Structureⁱ

Secondary structure

Legend: HelixTurnBeta strandPDB Structure known for this area

Feature key	Position(s)	DescriptionActions	Length
Beta strandⁱ	42 – 49	Combined sources	8
Turnⁱ	58 – 61	Combined sources	4
Helixⁱ	64 – 79	Combined sources	16
Helixⁱ	83 – 85	Combined sources	3
Beta strandⁱ	88 – 92	Combined sources	5
Helixⁱ	103 – 110	Combined sources	8
Beta strandⁱ	119 – 123	Combined sources	5
Helixⁱ	125 – 127	Combined sources	3
Helixⁱ	128 – 141	Combined sources	14
Beta strandⁱ	146 – 155	Combined sources	10
Helixⁱ	156 – 158	Combined sources	3
Beta strandⁱ	161 – 163	Combined sources	3
Beta strandⁱ	165 – 167	Combined sources	3
Beta strandⁱ	173 – 177	Combined sources	5
Helixⁱ	178 – 182	Combined sources	5
Turnⁱ	187 – 190	Combined sources	4
Helixⁱ	193 – 204	Combined sources	12
Helixⁱ	208 – 227	Combined sources	20
Turnⁱ	228 – 234	Combined sources	7
Beta strandⁱ	238 – 240	Combined sources	3
Beta strandⁱ	248 – 250	Combined sources	3
Helixⁱ	255 – 257	Combined sources	3
Turnⁱ	261 – 263	Combined sources	3
Helixⁱ	264 – 266	Combined sources	3
Beta strandⁱ	273 – 275	Combined sources	3
Turnⁱ	280 – 282	Combined sources	3
Beta strandⁱ	287 – 297	Combined sources	11
Helixⁱ	298 – 303	Combined sources	6
Beta strandⁱ	310 – 319	Combined sources	10
Helixⁱ	322 – 327	Combined sources	6
Helixⁱ	328 – 340	Combined sources	13
Helixⁱ	344 – 346	Combined sources	3
Beta strandⁱ	347 – 352	Combined sources	6
Helixⁱ	357 – 367	Combined sources	11
Helixⁱ	371 – 373	Combined sources	3
Helixⁱ	380 – 383	Combined sources	4
Turnⁱ	387 – 389	Combined sources	3
Helixⁱ	390 – 401	Combined sources	12
Beta strandⁱ	407 – 414	Combined sources	8
Turnⁱ	415 – 417	Combined sources	3
Beta strandⁱ	418 – 426	Combined sources	9

Show more details

3D structure databases

ProteinModelPortalⁱ	P24752
SMRⁱ	P24752
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Miscellaneous databases

EvolutionaryTraceⁱ	P24752

EvolutionaryTraceⁱ

P24752

Family & Domainsⁱ

Region

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Regionⁱ	258 – 260	Coenzyme A binding		3

Sequence similaritiesⁱ

Belongs to the thiolase family.Curated

Keywords - Domainⁱ

Transit peptide

Phylogenomic databases

eggNOGⁱ	KOG1390 Eukaryota COG0183 LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00390000009412
HOGENOMⁱ	HOG000012238
HOVERGENⁱ	HBG003112
InParanoidⁱ	P24752
KEGG Orthology (KO) More...KOⁱ	K00626
OMAⁱ	WDVYNKF
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G09C6
PhylomeDBⁱ	P24752
TreeFamⁱ	TF300650

Family and domain databases

Conserved Domains Database More...CDDⁱ	cd00751 thiolase, 1 hit
Gene3Dⁱ	3.40.47.10, 4 hits
InterProⁱ	View protein in InterPro IPR002155 Thiolase IPR016039 Thiolase-like IPR020615 Thiolase_acyl_enz_int_AS IPR020610 Thiolase_AS IPR020617 Thiolase_C IPR020613 Thiolase_CS IPR020616 Thiolase_N
Pfam protein domain database More...Pfamⁱ	View protein in Pfam PF02803 Thiolase_C, 1 hit PF00108 Thiolase_N, 1 hit
PIRSFⁱ	PIRSF000429 Ac-CoA_Ac_transf, 1 hit
SUPFAMⁱ	SSF53901 SSF53901, 2 hits
TIGRFAMsⁱ	TIGR01930 AcCoA-C-Actrans, 1 hit
PROSITEⁱ	View protein in PROSITE PS00098 THIOLASE_1, 1 hit PS00737 THIOLASE_2, 1 hit PS00099 THIOLASE_3, 1 hit

Sequences (2+)ⁱ

Sequence statusⁱ: Complete.

Sequence processingⁱ: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsⁱ produced by alternative splicing. Align Add to basket

This entry has 2 described isoforms and 3 potential isoforms that are computationally mapped.Show all Align All

Isoform 1 (identifier: P24752-1) [UniParc]FASTA Add to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MAVLAALLRS GARSRSPLLR RLVQEIRYVE RSYVSKPTLK EVVIVSATRT 
        60         70         80         90        100
PIGSFLGSLS LLPATKLGSI AIQGAIEKAG IPKEEVKEAY MGNVLQGGEG 
       110        120        130        140        150
QAPTRQAVLG AGLPISTPCT TINKVCASGM KAIMMASQSL MCGHQDVMVA 
       160        170        180        190        200
GGMESMSNVP YVMNRGSTPY GGVKLEDLIV KDGLTDVYNK IHMGSCAENT 
       210        220        230        240        250
AKKLNIARNE QDAYAINSYT RSKAAWEAGK FGNEVIPVTV TVKGQPDVVV 
       260        270        280        290        300
KEDEEYKRVD FSKVPKLKTV FQKENGTVTA ANASTLNDGA AALVLMTADA 
       310        320        330        340        350
AKRLNVTPLA RIVAFADAAV EPIDFPIAPV YAASMVLKDV GLKKEDIAMW 
       360        370        380        390        400
EVNEAFSLVV LANIKMLEID PQKVNINGGA VSLGHPIGMS GARIVGHLTH 
       410        420 
ALKQGEYGLA SICNGGGGAS AMLIQKL

Length:427

Mass (Da):45,200

Last modified:March 1, 1992 - v1

Checksum:ⁱ2E81168EB39D0142

GO

Isoform 2 (identifier: P24752-2) [UniParc]FASTA Add to basket

The sequence of this isoform differs from the canonical sequence as follows:
146-162: DVMVAGGMESMSNVPYV → IKQETGSLAKICCHVRR
163-427: Missing.

« Hide

        10         20         30         40         50
MAVLAALLRS GARSRSPLLR RLVQEIRYVE RSYVSKPTLK EVVIVSATRT 
        60         70         80         90        100
PIGSFLGSLS LLPATKLGSI AIQGAIEKAG IPKEEVKEAY MGNVLQGGEG 
       110        120        130        140        150
QAPTRQAVLG AGLPISTPCT TINKVCASGM KAIMMASQSL MCGHQIKQET 
       160 
GSLAKICCHV RR

Note: No experimental confirmation available.

Show »

Length:162

Mass (Da):17,175

Checksum:ⁱC76EA13AED1868FC

GO

Computationally mapped potential isoform sequencesⁱ

There are 3 potential isoforms mapped to this entry.BLAST Align Show all Add to basket

Entry	Entry name	Protein names	Gene names	Length	Annotation

H0YEL7	H0YEL7_HUMAN	Acetyl-CoA acetyltransferase, mitoc... Acetyl-CoA acetyltransferase, mitochondrial	ACAT1	136	Annotation score:
E9PKF3	E9PKF3_HUMAN	Acetyl-CoA acetyltransferase, mitoc... Acetyl-CoA acetyltransferase, mitochondrial	ACAT1	54	Annotation score:
E9PRQ6	E9PRQ6_HUMAN	Acetyl-CoA acetyltransferase, mitoc... Acetyl-CoA acetyltransferase, mitochondrial	ACAT1	141	Annotation score:

Experimental Info

Feature key	Position(s)	DescriptionActions	Length
Sequence conflictⁱ	340	V → M in BAA01387 (PubMed:1684944).Curated	1
Sequence conflictⁱ	346	D → N in BAA01387 (PubMed:1684944).Curated	1
Sequence conflictⁱ	380	A → S in BAA01387 (PubMed:1684944).Curated	1
Sequence conflictⁱ	412	I → F in BAA01387 (PubMed:1684944).Curated	1

Natural variant

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_007496	5	A → P1 PublicationCorresponds to variant dbSNP:rs3741056EnsemblClinVar.	1
Natural variantⁱVAR_007497	85	Missing in 3KTD.	1
Natural variantⁱVAR_007498	93	N → S in 3KTD; 10% activity. 1 PublicationCorresponds to variant dbSNP:rs120074145EnsemblClinVar.	1
Natural variantⁱVAR_007499	152	G → A in 3KTD. Corresponds to variant dbSNP:rs762991875EnsemblClinVar.	1
Natural variantⁱVAR_007500	158	N → D in 3KTD; no activity. 1 PublicationCorresponds to variant dbSNP:rs148639841EnsemblClinVar.	1
Natural variantⁱVAR_007501	183	G → R in 3KTD; no activity. 1 PublicationCorresponds to variant dbSNP:rs120074141EnsemblClinVar.	1
Natural variantⁱVAR_007502	297	T → M in 3KTD; 10% normal activity. 1 PublicationCorresponds to variant dbSNP:rs886041122EnsemblClinVar.	1
Natural variantⁱVAR_007503	301	A → P in 3KTD; 5% normal activity. 1 Publication	1
Natural variantⁱVAR_007504	312	I → T in 3KTD; 10% activity. 1 PublicationCorresponds to variant dbSNP:rs120074146EnsemblClinVar.	1
Natural variantⁱVAR_007505	333	A → P in 3KTD; no activity. 1 PublicationCorresponds to variant dbSNP:rs120074147EnsemblClinVar.	1
Natural variantⁱVAR_007506	379	G → V in 3KTD. Corresponds to variant dbSNP:rs120074143EnsemblClinVar.	1
Natural variantⁱVAR_007507	380	A → T in 3KTD; 7% normal activity. 1 PublicationCorresponds to variant dbSNP:rs120074140EnsemblClinVar.	1

Alternative sequence

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Alternative sequenceⁱVSP_056844	146 – 162	DVMVA…NVPYV → IKQETGSLAKICCHVRR in isoform 2. 1 PublicationAdd BLAST		17
Alternative sequenceⁱVSP_056845	163 – 427	Missing in isoform 2. 1 PublicationAdd BLAST		265

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	D90228 mRNA Translation: BAA14278.1 D10511 Genomic DNA Translation: BAA01387.1 AK312574 mRNA Translation: BAG35468.1 AP002433 Genomic DNA No translation available. CH471065 Genomic DNA Translation: EAW67104.1 CH471065 Genomic DNA Translation: EAW67105.1 BC010942 mRNA Translation: AAH10942.1
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS8339.1 [P24752-1]
PIRⁱ	JH0255
NCBI Reference Sequences More...RefSeqⁱ	NP_000010.1, NM_000019.3 [P24752-1]
UniGeneⁱ	Hs.232375

Genome annotation databases

Ensemblⁱ	ENST00000265838; ENSP00000265838; ENSG00000075239 [P24752-1] ENST00000299355; ENSP00000299355; ENSG00000075239 [P24752-2]
GeneIDⁱ	38
KEGGⁱ	hsa:38
UCSC genome browser More...UCSCⁱ	uc001pjw.2 human [P24752-1]

Keywords - Coding sequence diversityⁱ

Alternative splicing, Polymorphism

Similar proteinsⁱ

100% Identity
90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length	Source
P24752	Testicular tissue protein Li 198		HUMAN		427	UniRef100_P24752
ACAT1 isoform 1		PANTR		427
Uncharacterized protein		PANPA		427
UPI0003EAF58E		HUMAN		337
P24752-2	ACAT1 isoform 8		PANTR		162	UniRef100_A0A2I3RWP3
Uncharacterized protein		PANPA		162

Protein	Similar proteins		Species	Score	Length	Source
P24752	Acetyl-CoA acetyltransferase, mitochondrial		BOVIN		422	UniRef90_P24752
Testicular tissue protein Li 198		HUMAN		427
ACAT1 isoform 1		PANTR		427
Uncharacterized protein		PANPA		427
Acetyl-CoA acetyltransferase 1		OTOGA		428
+56
P24752-2	Uncharacterized protein		MACMU		162	UniRef90_F6XBZ6
Uncharacterized protein		CERAT		162
Uncharacterized protein		PAPAN		162
Uncharacterized protein		MACNE		162
Uncharacterized protein		MANLE		138
+11

Protein	Similar proteins		Species	Score	Length	Source
P24752	Acetyl-CoA acetyltransferase, mitochondrial		BOVIN		422	UniRef50_P24752
Acetyl-CoA acetyltransferase, mitochondrial		MACFA		427
Testicular tissue protein Li 198		HUMAN		427
ACAT1 isoform 1		PANTR		427
Uncharacterized protein		PANPA		427
+107
P24752-2	Uncharacterized protein		STRPU		160	UniRef50_W4XT17
Uncharacterized protein		MANES		150
ACAT1 isoform 8		PANTR		162
Uncharacterized protein		PANPA		162
Uncharacterized protein		PROCO		162
+17

Cross-referencesⁱ

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	D90228 mRNA Translation: BAA14278.1 D10511 Genomic DNA Translation: BAA01387.1 AK312574 mRNA Translation: BAG35468.1 AP002433 Genomic DNA No translation available. CH471065 Genomic DNA Translation: EAW67104.1 CH471065 Genomic DNA Translation: EAW67105.1 BC010942 mRNA Translation: AAH10942.1
CCDSⁱ	CCDS8339.1 [P24752-1]
PIRⁱ	JH0255
RefSeqⁱ	NP_000010.1, NM_000019.3 [P24752-1]
UniGeneⁱ	Hs.232375

3D structure databases

Select the link destinations: Protein Data Bank Europe More...PDBeⁱ Protein Data Bank RCSB More...RCSB PDBⁱ Protein Data Bank Japan More...PDBjⁱ Links Updated	PDB entry	Method	Resolution (Å)	Chain	Positions	PDBsum
	2F2S	X-ray	2.00	A/B/C/D	41-427	[»]
	2IB7	X-ray	2.05	A/B/C/D	34-427	[»]
	2IB8	X-ray	1.85	A/B/C/D	34-427	[»]
	2IB9	X-ray	2.05	A/B/C/D	34-427	[»]
	2IBU	X-ray	1.90	A/B/C/D	34-427	[»]
	2IBW	X-ray	1.90	A/B/C/D	34-427	[»]
	2IBY	X-ray	1.85	A/B/C/D	34-427	[»]
ProteinModelPortalⁱ	P24752
SMRⁱ	P24752
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Protein-protein interaction databases

BioGridⁱ	106556, 69 interactors
IntActⁱ	P24752, 17 interactors
MINTⁱ	P24752
STRINGⁱ	9606.ENSP00000265838

Chemistry databases

ChEMBLⁱ	CHEMBL2616
DrugBankⁱ	DB00795 Sulfasalazine
SwissLipidsⁱ	SLP:000000701

PTM databases

iPTMnetⁱ	P24752
PhosphoSitePlusⁱ	P24752
SwissPalmⁱ	P24752

Polymorphism and mutation databases

BioMutaⁱ	ACAT1
DMDMⁱ	135755

2D gel databases

REPRODUCTION-2DPAGEⁱ	IPI00030363
UCD-2DPAGEⁱ	P24752

Proteomic databases

EPDⁱ	P24752
MaxQBⁱ	P24752
PaxDbⁱ	P24752
PeptideAtlasⁱ	P24752
PRIDEⁱ	P24752
ProteomicsDBⁱ	54224
TopDownProteomicsⁱ	P24752-1 [P24752-1]

Protocols and materials databases

The DNASU plasmid repository More...DNASUⁱ	38
Structural Biology Knowledgebase	Search...

Genome annotation databases

Ensemblⁱ	ENST00000265838; ENSP00000265838; ENSG00000075239 [P24752-1] ENST00000299355; ENSP00000299355; ENSG00000075239 [P24752-2]
GeneIDⁱ	38
KEGGⁱ	hsa:38
UCSCⁱ	uc001pjw.2 human [P24752-1]

Organism-specific databases

CTDⁱ	38
DisGeNETⁱ	38
EuPathDBⁱ	HostDB:ENSG00000075239.13
GeneCardsⁱ	ACAT1
HGNCⁱ	HGNC:93 ACAT1
HPAⁱ	HPA004428 HPA007569
MalaCardsⁱ	ACAT1
MIMⁱ	203750 phenotype 607809 gene
neXtProtⁱ	NX_P24752
OpenTargetsⁱ	ENSG00000075239
Orphanetⁱ	134 Ketoacidosis due to beta-ketothiolase deficiency
PharmGKBⁱ	PA24431
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	KOG1390 Eukaryota COG0183 LUCA
GeneTreeⁱ	ENSGT00390000009412
HOGENOMⁱ	HOG000012238
HOVERGENⁱ	HBG003112
InParanoidⁱ	P24752
KOⁱ	K00626
OMAⁱ	WDVYNKF
OrthoDBⁱ	EOG091G09C6
PhylomeDBⁱ	P24752
TreeFamⁱ	TF300650

Enzyme and pathway databases

BioCycⁱ	MetaCyc:HS01167-MONOMER
Reactomeⁱ	R-HSA-70895 Branched-chain amino acid catabolism R-HSA-77108 Utilization of Ketone Bodies R-HSA-77111 Synthesis of Ketone Bodies

Miscellaneous databases

ChiTaRSⁱ	ACAT1 human
EvolutionaryTraceⁱ	P24752
GeneWikiⁱ	ACAT1
GenomeRNAiⁱ	38
Protein Ontology More...PROⁱ	PR:P24752
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000075239 Expressed in 233 organ(s), highest expression level in nephron tubule
CleanExⁱ	HS_ACAT1
ExpressionAtlasⁱ	P24752 baseline and differential
Genevisibleⁱ	P24752 HS

Family and domain databases

CDDⁱ	cd00751 thiolase, 1 hit
Gene3Dⁱ	3.40.47.10, 4 hits
InterProⁱ	View protein in InterPro IPR002155 Thiolase IPR016039 Thiolase-like IPR020615 Thiolase_acyl_enz_int_AS IPR020610 Thiolase_AS IPR020617 Thiolase_C IPR020613 Thiolase_CS IPR020616 Thiolase_N
Pfamⁱ	View protein in Pfam PF02803 Thiolase_C, 1 hit PF00108 Thiolase_N, 1 hit
PIRSFⁱ	PIRSF000429 Ac-CoA_Ac_transf, 1 hit
SUPFAMⁱ	SSF53901 SSF53901, 2 hits
TIGRFAMsⁱ	TIGR01930 AcCoA-C-Actrans, 1 hit
PROSITEⁱ	View protein in PROSITE PS00098 THIOLASE_1, 1 hit PS00737 THIOLASE_2, 1 hit PS00099 THIOLASE_3, 1 hit
ProtoNetⁱ	Search...

Entry informationⁱ

Entry nameⁱ	THIL_HUMAN
Accessionⁱ	P24752Primary (citable) accession number: P24752 Secondary accession number(s): B2R6H1, G3XAB4, Q96FG8
Entry historyⁱ	Integrated into UniProtKB/Swiss-Prot:	March 1, 1992
	Last sequence update:	March 1, 1992
	Last modified:	September 12, 2018
	This is version 198 of the entry and version 1 of the sequence. See complete history.
Entry statusⁱ	Reviewed (UniProtKB/Swiss-Prot)
Annotation program	Chordata Protein Annotation Program
Disclaimer	Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousⁱ

Keywords - Technical termⁱ

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations
SIMILARITY comments
Index of protein domains and families
PDB cross-references
Index of Protein Data Bank (PDB) cross-references
Human chromosome 11
Human chromosome 11: entries, gene names and cross-references to MIM
Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations
MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

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UniProtKB - P24752 (THIL_HUMAN)

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Acetyl-CoA acetyltransferase, mitochondrial

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<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

<p>This subsection of the ‘Function’ section describes biophysical and chemical properties, such as maximal absorption, kinetic parameters, pH dependence, redox potentials and temperature dependence.<p><a href='/help/biophysicochemical_properties' target='_top'>More...</a></p>Kineticsi

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<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

Organism-specific databases

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Mitochondrion

Extracellular region or secreted

Mitochondrion

Keywords - Cellular componenti

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Keywords - Diseasei

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Chemistry databases

Polymorphism and mutation databases

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Amino acid modifications

Keywords - PTMi

Proteomic databases

2D gel databases

PTM databases

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Organism-specific databases

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

GO - Molecular functioni

Protein-protein interaction databases

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

3D structure databases

Miscellaneous databases

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

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Experimental Info

Natural variant

Alternative sequence

Sequence databases

Genome annotation databases

Keywords - Coding sequence diversityi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

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Protein-protein interaction databases

Chemistry databases

PTM databases

Polymorphism and mutation databases

2D gel databases

Proteomic databases

Protocols and materials databases

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Enzyme and pathway databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

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Functionⁱ

Kineticsⁱ

GO - Molecular functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Keywords - Cellular componentⁱ

Pathology & Biotechⁱ

Keywords - Diseaseⁱ

PTM / Processingⁱ

Keywords - PTMⁱ

Expressionⁱ

Interactionⁱ

GO - Molecular functionⁱ

Structureⁱ

Family & Domainsⁱ

Sequence similaritiesⁱ

Keywords - Domainⁱ

Keywords - Coding sequence diversityⁱ

Cross-referencesⁱ

Entry informationⁱ

Miscellaneousⁱ

Keywords - Technical termⁱ