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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

ACAT1 Gene

protein-coding GIFtS: 68
GCID: GC11P107992

acetyl-CoA acetyltransferase 1

(Previous name: acetyl-Coenzyme A acetyltransferase 1 )
(Previous symbol: ACAT)

Explore 23 diseases affiliated with
ACAT1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Acetyl-CoA Acetyltransferase 1¹ ²		T2² ³
ACAT¹ ² ³		EC 2.3.1.9³ ⁸
THIL¹ ²		Acetoacetyl Coenzyme A Thiolase²
Acetyl-Coenzyme A Acetyltransferase 1¹ ²		Acetyl-CoA Acetyltransferase, Mitochondrial²
Acetoacetyl-CoA Thiolase² ³		Mitochondrial Acetoacetyl-CoA Thiolase²
MAT² ³		EC 2.3.1⁸

External Ids:	HGNC: 93¹	Entrez Gene: 38²	Ensembl: ENSG00000075239⁷	OMIM: 607809⁵	UniProtKB: P24752³

Export aliases for ACAT1 gene to outside databases

Previous GC identifers: GC11P110186 GC11P109348 GC11P108026 GC11P107529 GC11P107499 GC11P103917

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for ACAT1:

This gene encodes a mitochondrially localized enzyme that catalyzes the reversible formation of acetoacetyl-CoA from

two molecules of acetyl-CoA. Defects in this gene are associated with 3-ketothiolase deficiency, an inborn error of

isoleucine catabolism characterized by urinary excretion of 2-methyl-3-hydroxybutyric acid, 2-methylacetoacetic acid,

tiglylglycine, and butanone. (provided by RefSeq, Feb 2009)

UniProtKB/Swiss-Prot: THIL_HUMAN, P24752

Function: Plays a major role in ketone body metabolism

Gene Wiki entry for ACAT1

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000011.9 NC_018922.1 NT_033899.8

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the ACAT1 gene promoter:
GR GR-beta Cdc5 FOXL1 AREB6 COMP1 FOXO1a GR-alpha Hlf FOXO1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: ACAT1 promoter sequence

Search SABiosciences Chromatin IP Primers for ACAT1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ACAT1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11q22.3 Ensembl cytogenetic band: 11q22.3 HGNC cytogenetic band: 11q22.3

ACAT1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ACAT1 gene location

GeneLoc information about chromosome 11 GeneLoc Exon Structure

GeneLoc location for GC11P107992: view genomic region (about GC identifiers)

Start:	107,992,243 bp from pter	End:	108,018,895 bp from pter
Size:	26,653 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: THIL_HUMAN, P24752 (See protein sequence)

Recommended Name: Acetyl-CoA acetyltransferase, mitochondrial precursor

Size: 427 amino acids; 45200 Da

Subunit: Homotetramer

Subcellular location: Mitochondrion

6/7 PDB 3D structures from and Proteopedia for ACAT1 (see all 7):

2F2S (3D)

2IB7 (3D)

2IB8 (3D)

2IB9 (3D)

2IBU (3D)

2IBW (3D)

Secondary accessions: B2R6H1

Explore the universe of human proteins at neXtProt for ACAT1: NX_P24752

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P24752

4/14 DME Specific Peptides for ACAT1 (P24752) (see all 14)

TKLGSIA

RTPIGSF

GTVTAAN

CNGGGGAS

ACAT1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_000010.1

ENSEMBL proteins:

ENSP00000265838 ENSP00000299355 ENSP00000435965 ENSP00000433568 ENSP00000436096

Reactome Protein details: P24752
Human Recombinant Protein Products:

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	Novus Biologicals ACAT1 Proteins
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for ACAT1

Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005739	mitochondrion	IDA	--
GO:0005743	mitochondrial inner membrane	IEA	--
GO:0005759	mitochondrial matrix	TAS	--

ACAT1 for ontologies About GeneDecksing

ACAT1 Antibody Products:

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	ThermoFisher Antibodies for ACAT1

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	Uscn ELISAs and CLIAs for ACAT1

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

ACAT1 for domains About GeneDecksing

5/8 InterPro domains/families (see all 8):

IPR002155 Thiolase

IPR020610 Thiolase_AS

IPR020616 Thiolase_N

IPR020617 Thiolase_C

IPR020613 Thiolase_CS

Graphical View of Domain Structure for InterPro Entry P24752

ProtoNet protein and cluster: P24752

1 Blocks protein family: IPB002155 Thiolase

UniProtKB/Swiss-Prot: THIL_HUMAN, P24752

Similarity: Belongs to the thiolase family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: THIL_HUMAN, P24752

Function: Plays a major role in ketone body metabolism

Catalytic activity: 2 acetyl-CoA = CoA + acetoacetyl-CoA

Enzyme regulation: Activated by potassium ions, but not sodium ions

Biophysicochemical properties: Kinetic parameters: KM=4 uM for acteoacetyl coenzyme A; KM=20 uM for coenzyme A; KM=8 uM

for 2-methylacteoacetyl coenzyme A; KM=508 uM for acetyl coenzyme A;

Genatlas biochemistry entry for ACAT1:

acetoacetyl-CoA thiolase 1,branched chain,mitochondrial,isoleucine catabolism,fatty acid beta-oxidation

Enzyme Numbers (IUBMB): EC 2.3.1.9¹ ² EC 2.3.1²

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		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ACAT1
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		hsa-miR-298 hsa-miR-3662
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Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for ACAT1

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Cell Line Products:		GenScript Custom overexpressing Cell Line Services for ACAT1
		Search LifeMap BioReagents cell lines for ACAT1

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACAT1

Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003985	acetyl-CoA C-acetyltransferase activity	EXP	--
GO:0016747	transferase activity, transferring acyl groups other than amino-acyl groups	--	--
GO:0019899	enzyme binding	IEA	--
GO:0042803	protein homodimerization activity	IEA	--
GO:0046872	metal ion binding	IEA	--

ACAT1 for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for ACAT1:

Upregulation of Wnt/beta-caten

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/15 super-pathways (see all 15) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Ketone body metabolism

Ketone body metabolism	1.00	Utilization of Ketone Bodies	0.60
Synthesis and Degradation of Ketone Bodies	1.00	Synthesis and degradation of ketone bodies	0.56
Synthesis of Ketone Bodies	0.80	Butanoate metabolism	0.17

Branched-chain amino acid catabolism

	Branched-chain amino acid catabolism	1.00			Valine, leucine and isoleucine degradation	0.39
	isoleucine degradation I	0.41			Propanoate metabolism	0.07

Metabolism

	Metabolism	1.00			Metabolism of lipids and lipoproteins	0.34
	Metabolic pathways	0.38

superpathway of geranylgeranyldiphosphate biosynthesis I (via mevalonate)

	superpathway of geranylgeranyldiphosphate biosynthesis I (via mevalonate)	1.00			Terpenoid backbone biosynthesis	0.71
	mevalonate pathway I	0.86

ketolysis

ketolysis

1.00

ketogenesis

0.57

Pathway sources
See GeneCards unified pathways
Show all pathways

1 GeneGo (Thomson Reuters) Pathway for ACAT1

Cholesterol and Sphingolipids transport / Transport from Golgi and ER to the apical membrane (normal and CF)

5/11 BioSystems Pathways for ACAT1 (see all 11)

	Synthesis and Degradation of Ketone Bodies
	isoleucine degradation I
	glutaryl-CoA degradation
	ketolysis
	Fatty Acid Beta Oxidation

5/8 Reactome Pathways for ACAT1 (see all 8)

	Metabolism
	Branched-chain amino acid catabolism
	Fatty acid, triacylglycerol, and ketone body metabolism
	Ketone body metabolism
	Synthesis of Ketone Bodies

5/11 Kegg Pathways (Kegg details for ACAT1) (see all 11):

	Fatty acid metabolism
	Synthesis and degradation of ketone bodies
	Valine, leucine and isoleucine degradation
	Lysine degradation
	Tryptophan metabolism

ACAT1 for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for ACAT1

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/149 Interacting proteins for ACAT1 (P24752³ ENSP00000265838⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 149)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
ENSG00000206435	P30504³	I2D: score=1
ENSG00000206452	P30504³	I2D: score=1
HLA-C	P30504³	I2D: score=1
ACOX1	Q15067³, ENSP00000293217⁴	I2D: score=1 STRING: ENSP00000293217
GH1	P01241³, ENSP00000312673⁴	I2D: score=1 STRING: ENSP00000312673

About this table

Gene Ontology (GO): 5/15 biological process terms (GO ID links to tree view) (see all 15): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001889	liver development	IEA	--
GO:0007420	brain development	IEA	--
GO:0009083	branched-chain amino acid catabolic process	TAS	--
GO:0009725	response to hormone stimulus	IEA	--
GO:0014070	response to organic cyclic compound	IEA	--

ACAT1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

ACAT1 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Compounds for ACAT1 available from Tocris Bioscience About this table

Compound	Action	CAS #
CI 976	Acyl-CoA:cholesterol acyltransferase (ACAT) inhibitor	[114289-47-3]
VULM 1457	Acyl-CoA: cholesterol acyltransferase (ACAT) inhibitor	[228544-65-8]

4 HMDB Compounds for ACAT1 About this table

Compound	Synonyms	CAS #	PubMed Ids
3-Oxohexanoyl-CoA	3-Oxohexanoyl-Coenzyme A (see all 6)	19774-86-8	--
Acetoacetyl-CoA	3-acetoacetyl-CoA (see all 9)	1420-36-6	--
Acetyl-CoA	S-Acetyl coenzyme A (see all 13)	72-89-9	--
Coenzyme A	Acetoacetyl coenzyme A sodium salt (see all 21)	85-61-0	--

1 DrugBank Compound for ACAT1 About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Sulfasalazine	Sulfasalazin (see all 2)	599-79-1	target	inhibitor	17139284 1357724 17016423

5 Novoseek chemical compound relationships for ACAT1 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
acetoacetyl coa	98.2	65	17371050 (4), 15128923 (3), 8099727 (2), 17236799 (2) (see all 41)
isoleucine	72.3	9	17236799 (1), 11914035 (1), 15128923 (1), 20156697 (1) (see all 9)
acetyl-coa	44.7	4	20046049 (1), 11988101 (1), 16950638 (1)
potassium	18.3	6	17371050 (2), 15128923 (1), 1349518 (1), 8725269 (1)
cholesterol	0	3	9469584 (2)

Search CenterWatch for drugs/clinical trials and news about ACAT1 / THIL

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for ACAT1 gene:

NM_000019.3

Unigene Cluster for ACAT1:

Acetyl-CoA acetyltransferase 1

Hs.232375 [show with all ESTs]

Unigene Representative Sequence: NM_000019

12 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000265838(uc001pjy.3) ENST00000524833 ENST00000299355(uc001pjw.1)

ENST00000531813(uc001pjx.3) ENST00000531853 ENST00000527942 ENST00000526119

ENST00000528370 ENST00000534773 ENST00000532792 ENST00000533610 ENST00000533597

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		hsa-miR-298 hsa-miR-3662
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Additional cDNA sequence:

AF086561.1 AK312574.1 BC010942.1 D90228.1 S70578.1

9 DOTS entries:

DT.95082281 DT.209848 DT.40305180 DT.75122408 DT.75109020 DT.92033596 DT.120707187 DT.40105792

DT.100014180

24/84 AceView cDNA sequences (see all 84):

NM_000019 AL041431 AI202672 AW297552 F36678 CA776724 AU142655 AU144630

T85734 AV708226 AU117943 F28477 AI139512 CA776496 BF528753 CB158309

BP360666 BM789408 BM722006 AA010069 BP375630 BC010942 BI763850 BM474090

GeneLoc Exon Structure

5/6 Alternative Splicing Database (ASD) splice patterns (SP) for ACAT1 (see all 6) About this scheme

ExUns:	1a	·	1b	·	1c	^	2	^	3	^	4	^	5	^	6a	·	6b	^	7	^	8	^	9	^	10a	·	10b	^	11	^	12a	·	12b	^	13a	·	13b	^	14	^	15
SP1:							-		-								-				-				-								-				-
SP2:							-		-								-		-		-				-
SP3:							-		-								-
SP4:																																	-
SP5:							-		-

ECgene alternative splicing isoforms for ACAT1

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

ACAT1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CTAATTCAGA

About this image

ACAT1 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

Stem Cell Differentiation: 2 LifeMap Cells

Name

Category

Induced pluripotent stem cell line 178B5 (Induced Pluripotent Stem Cell)

Early Embryo, Fibroblast

Induced pluripotent stem cell line 492B4 (Induced Pluripotent Stem Cell)

Early Embryo, Fibroblast

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See ACAT1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for ACAT1

SOURCE GeneReport for Unigene cluster: Hs.232375

SABiosciences Expression via Pathway-Focused PCR Arrays including ACAT1:

Fatty Acid Metabolism in human mouse rat

Amino Acid Metabolism I in human mouse rat

Molecular Toxicology PathwayFinder 384HT in human mouse rat

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACAT1

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for ACAT1 gene from 8/36 species (see all 36) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	ACAT1¹	acetyl-CoA acetyltransferase 1	76.09(n) 78.86(a)		418968 XM_417162.3 XP_417162.2
lizard (Anolis carolinensis)	Reptilia	ACAT1⁶	--	79(a)	1 ↔ 1	GL343659.1(250076-261358)
African clawed frog (Xenopus laevis)	Amphibia	Xl.25595²	Xenopus laevis transcribed sequence with moderate similarity more	72.89(n)		CA983451.1
zebrafish (Danio rerio)	Actinopterygii	wufb49g01²	Transcribed sequence with moderate similarity to protein more	75.34(n)		57056184
fruit fly (Drosophila melanogaster)	Insecta	CG10932^{1 , 3}	acetyl-CoA C-acetyltransferase³ CG10932¹	65(a)³ 59.51(n)¹ 65.68(a)¹		7C1³ 31695¹ NM_132186.1¹ NP_572414.1¹
worm (Caenorhabditis elegans)	Secernentea	T02G5.8³ kat-1¹	acetoacetyl-C0A thiolase³ Protein KAT-1¹	54(a) (best of 3)³ 57.43(n)¹ 55.18(a)¹		II(7073747-7075341)³ 174161¹ NM_063054.5¹ NP_495455.2¹
thale cress (Arabidopsis thaliana)	eudicotyledons	ACAT2¹	acetyl-CoA acetyltransferase, cytosolic 1	56.79(n) 52.32(a)		834876 NM_124198.3 NP_568694.2
rice (Oryza sativa)	Liliopsida	Os.12579²	Oryza sativa (japonica cultivar-group) cDNA cloneJ more	73.97(n)		AK059654.1

ENSEMBL Gene Tree for ACAT1 (if available)
TreeFam Gene Tree for ACAT1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for ACAT1 gene

ACAT2² ACAA2²

4 SIMAP similar genes for ACAT1 using alignment to 6 protein entries: THIL_HUMAN (see all proteins):

ACAT2 ACAA2 ACAA1 HADHB

ACAT1 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
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SNP ID	Valid	Clinical significance	Chr 11 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs120074148^1,2	C,	pathogenic	108005967(+)	`GACATC/GAGGTA`	2	Q E	mis¹		0	--	--	--	--
rs120074146^1,2	C	pathogenic	108013272(+)	`AAGAAC/TAGTAG`	2	T I	mis¹		0	--	--	--	--
rs71047672^1,2	C,	--	107990369(-)	`AGAGA-/GAAACAG`	1	--	us2k¹		1		NA	2
rs61913673^1,2		--	107990389(+)	`CTCTCA/TCACAC`	1	--	us2k¹		2		NA CSA	4
rs7101683^1,2	C	--	107990391(+)	`CTCTCT/ACACAC`	1	--	us2k¹		1		CSA	2
rs187282272^1,2		--	107990486(+)	`TTGTCC/TTTGGC`	1	--	us2k¹		0	--	--	--	--
rs139931879^1,2		--	107990564(+)	`AATAGA/CGAGGT`	1	--	us2k¹		0	--	--	--	--
rs61214973^1,2	C,F,	--	107990733(+)	`GAGCTC/AAGGAG`	1	--	us2k¹		5		NA CSA WA EA	362
rs7102368^1,2	C,F,A,	--	107990887(+)	`AAGATT/CGCGCC`	1	--	us2k¹		10		NA WA EA	376
rs192169235^1,2		--	107991046(+)	`TAGCAA/GGACCC`	1	--	us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for ACAT1 (107992243 - 108018895 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for ACAT1: --
Human Gene Mutation Database (HGMD): ACAT1

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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ACAT1 for disorders           About GeneDecksing

OMIM gene information: 607809
OMIM disorders: 203750
UniProtKB/Swiss-Prot: THIL_HUMAN, P24752

Defects in ACAT1 are a cause of 3-ketothiolase deficiency (3KTD) [MIM:203750]; also known as

alpha-methylacetoaceticaciduria. 3KTD is 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

20/23 diseases for ACAT1 (see all 23): About MalaCards

ketothiolase deficiency beta-ketothiolase deficiency spinal muscular atrophy lipid metabolism disorder

thiolase deficiency metabolic disorders ataxia telangiectasia muscular atrophy

sitosterolemia hypertriglyceridemia ataxia hypercholesterolemia

cervical cancer alzheimer's disease cervicitis dementia

breast cancer hypertension cholesterol tuberculosis

1 disease from the University of Copenhagen DISEASES database for ACAT1:

beta-ketothiolase deficiency

4 Novoseek disease relationships for ACAT1 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
beta-ketothiolase deficiency	98.7	32	14518824 (5), 15128923 (4), 20156697 (4), 7749408 (3) (see all 18)
ketoacidosis	51.9	1	16950638 (1)
ataxia telangiectasia	39.3	1	8786135 (1)
metabolic disorder	30.9	3	20046049 (1), 9001814 (1), 16935016 (1)

Genatlas disease: ACAT1

beta-ketothiolase deficiency,recurrent acidosis,ketosis with organic aciduria

Genetic Association Database (GAD): ACAT1
Human Genome Epidemiology (HuGE) Navigator: ACAT1 (20 documents)

Export disorders for ACAT1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for ACAT1 gene, integrated from 9 sources (see all 98):
(articles sorted by number of sources associating them with ACAT1)

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Molecular cloning and sequence of the complementary DNA encoding human mitochondrial acetoacetyl-coenzyme A thiolase and study of the variant enzymes in cultured fibroblasts from patients with 3- ketothiolase deficiency. (PubMed id 1979337)^{1, 2, 3, 9} Fukao T....Hashimoto T. (1990)
Crystallographic and kinetic studies of human mitochondrial acetoacetyl-CoA thiolase: the importance of potassium and chloride ions for its structure and function. (PubMed id 17371050)^{1, 2, 9} Haapalainen A.M....Wierenga R.K. (2007)
Characterization of N93S, I312T, and A333P missense mutations in two Japanese families with mitochondrial acetoacetyl-CoA thiolase deficiency. (PubMed id 9744475)^{1, 2, 9} Fukao T.... Kondo N. (1998)
Evidence for a structural mutation (347Ala to Thr) in a German family with 3-ketothiolase deficiency. (PubMed id 1715688)^{1, 2, 9} Fukao T.... Hashimoto T. (1991)
Identification of three mutant alleles of the gene for mitochondrial acetoacetyl-coenzyme A thiolase. A complete analysis of two generations of a family with 3-ketothiolase deficiency. (PubMed id 1346617)^{1, 2, 9} Fukao T....Hashimoto T. (1992)
Molecular, biochemical, and clinical characterization of mitochondrial acetoacetyl-coenzyme A thiolase deficiency in two further patients. (PubMed id 7728148)^{1, 2, 9} Wakazono A.... Hashimoto T. (1995)
Molecular basis of beta-ketothiolase deficiency: mutations and polymorphisms in the human mitochondrial acetoacetyl-coenzyme A thiolase gene. (PubMed id 7749408)^{1, 2, 9} Fukao T.... Hashimoto T. (1995)
Structure and expression of the human mitochondrial acetoacetyl-CoA thiolase-encoding gene. (PubMed id 1684944)^{1, 2, 9} Kano M.... Hashimoto T. (1991)
The influence of the acyl-CoA:cholesterol acyltransferase-1 gene (-77G-->A) polymorphisms on plasma lipid and apolipoprotein levels in normolipidemic and hyperlipidemic subjects. (PubMed id 15158756)^{1, 4} Ohta T....Fukuyama S. (2004)
Vectorial proteomics reveal targeting, phosphorylation and specific fragmentation of polymerase I and transcript release factor (PTRF) at the surface of caveolae in human adipocytes. (PubMed id 15242332)^{1, 2} Aboulaich N.... Vener A.V. (2004)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 38	HGNC: 93	AceView: ACAT1	Ensembl:ENSG00000075239	euGenes: HUgn38
ECgene: ACAT1	Kegg: 38	H-InvDB: ACAT1

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for ACAT1	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ACAT1

Intellectual Property for ACAT1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for ACAT1 gene:
Search GeneIP for patents involving ACAT1

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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acetyl-CoA acetyltransferase 1

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ACAT1 Gene

acetyl-CoA acetyltransferase 1

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