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Aliases & Descriptions for ACAT1
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
|
| Aliases |
|---|
| ACAT 2, 3 | | EC 2.3.1.9 3 | | MAT 2, 3 | | T2 2, 3 | | THIL 1, 2 |
| | | Descriptions |
|---|
| Acetoacetyl-CoA thiolase 3 | | acetoacetyl Coenzyme A thiolase 2 | | acetyl-Coenzyme A acetyltransferase 1 2 | | mitochondrial acetoacetyl-CoA thiolase 2 |
|
| | Search outside databases for aliases for ACAT1 genePrevious GC identifers: GC11P110186 GC11P109348 GC11P108026 GC11P107529 |
Summaries for ACAT1(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| EntrezGene 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] UniProtKB/Swiss-Prot: THIL_HUMAN, P24752Function: Plays a major role in ketone body metabolism |
Genomic Location for ACAT1
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to
UCSC and
Ensembl,
Transcription factor binding sites according to
SABiosciences) About This Section
| Genomic View: UCSC Golden Path with GeneCards custom track
Transcription factor binding sites upstream to the ACAT1 gene 
Entrez Gene cytogenetic band: 11q22.3-q23.1 Ensembl cytogenetic band: 11q22.3 HGNC cytogenetic band: 11q22.3ACAT1 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)
 GeneLoc gene densities for chromosome 11 GeneLoc Exon Structure GeneLoc location for GC11P107499:
(about GC identifiers)
Start:
|
107,497,468 bp from pter |
End:
|
107,523,485 bp from pter |
Size:
|
26,018 bases |
Orientation:
|
plus strand |
RefSeq DNA sequence:- NC_000011.8 NT_033899.7
| Proteins for ACAT1
(According to
1UniProtKB,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Enzo Life Sciences,
Abnova,
OriGene and/or,
Abcam,
Biochemical Assays by
Invitrogen,
Millipore,
R&D Systems,
Cell Signaling Technology, and/or
Enzo Life Sciences,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene,
Antibodies by Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Cell Signaling Technology,
Abcam,
Abnova, and/or
Novus Biologicals)
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
PDB structures from and Proteopedia :2F2S (3D)
 2IB7 (3D)
 2IB8 (3D)
 2IB9 (3D)
 2IBU (3D)
 2IBW (3D)
 2IBY (3D)
 Post-translational modifications:
View phosphorylation sites using PhosphoSite2
REFSEQ proteins: NP_000010.1
ENSEMBL proteins: ENSP00000265838 ENSP00000364826 ENSP00000299355
Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 
2 Gene Ontology (GO) cellular component terms (links to tree view): About this table
Antibodies for ACAT1: Assays for ACAT1: | Protein
Domains/ Families for ACAT1(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| - 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, P24752Similarity: Belongs to the thiolase family | Gene Function for ACAT1
(According to MGI Jun 06 2009, UniProtKB,
IUBMB,and/or Genatlas,
shRNA from
OriGene,
Sigma-Aldrich, RNAi from
Sigma-Aldrich,
RNAi Products,
Clones, and
Q-PCR Products
from Invitrogen,
Millipore,
OriGene, and/or
Abnova,
siRNAs from
Applied Biosystems,
SYBR primers from OriGene,
Cell-based Assays from Millipore,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|                OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): BC010942
Applied Biosystems Silencer® siRNAs for ACAT1
Sigma-Aldrich siRNA and siRNA Panels for ACAT1  Sigma-Aldrich shRNA for ACAT1  Explore Sigma-Aldrich super-pooled esiRNAs 
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_000019                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_000019                                  untagged cDNA clones in CMV expression vector (see all 2): BC010942 
Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_000019
UniProtKB/Swiss-Prot: THIL_HUMAN, P24752Function: Plays a major role in ketone body metabolismCatalytic activity: 2 acetyl-CoA = CoA + acetoacetyl-CoAEnzyme regulation: Activated by potassium ions, but not sodium ionsBiophysicochemical 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;Enzyme Number (IUBMB): EC 2.3.1.9 Genatlas biochemistry entry for ACAT1:acetoacetyl-CoA thiolase 1,branched chain,mitochondrial,isoleucine catabolism,fatty acid beta-oxidation5/6 Gene Ontology (GO) molecular function terms (links to tree view) (see all 6
): About this table | Pathways & Interactions for ACAT1
(Pathways according to Invitrogen
(maps by GeneGo),
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Proteins Network according to
SABiosciences,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
| 5/8 Sigma-Aldrich "Your Favorite Gene" Pathways for ACAT1 (Your Favorite Gene powered by Ingenuity) (see all 8
) 
5/37 Interacting proteins for ACAT1 (P247521 ENSP000002658383) via UniProtKB, MINT, and/or STRING (see all 37
)About this table
1 Gene Ontology (GO) biological process term (links to tree view): | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0008152 | metabolic process |
IEA | -- | About this table
|
Drugs & Compounds for ACAT1(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
Sigma-Aldrich, Tocris Bioscience, and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB)
About This Section
|  |
Enzo Life Sciences drugs & compounds for ACAT1 |
Compounds for ACAT1 available from Tocris Bioscience
| Compound | Action |
CAS
number |
|---|
| CI 976 | Acyl-CoA:cholesterol acyltransferase (ACAT) inhibitor | [114289-47-3] | | VULM 1457 | Acyl-CoA: cholesterol acyltransferase (ACAT) inhibitor | [228544-65-8] | About this table
5 Novoseek chemical compound relationships for ACAT1 gene
| Compound |
Score |
Articles |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| acetoacetyl coa |
98.20 |
61 |
17371050 (4), 15128923 (3), 8099727 (2), 17236799 (2) (see all 39) |
| isoleucine |
69.04 |
7 |
17236799 (1), 11914035 (1), 15128923 (1), 14518824 (1) (see all 7) |
| acetyl-coa |
35.40 |
2 |
11988101 (1), 16950638 (1) |
| potassium |
20.21 |
6 |
17371050 (2), 15128923 (1), 1349518 (1), 8725269 (1) |
| cholesterol |
0.00 |
3 |
9469584 (2) |
About this table
|
Transcripts for ACAT1(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
non coding RNAs according to
RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from Invitrogen,
Millipore, and/or
Abnova,
siRNAs from Applied Biosystems,
Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
Tagged/untagged cDNA clones from
OriGene, Expression Assays from Applied Biosystems) About This Section
|                OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): BC010942
Sigma-Aldrich siRNA and siRNA Panels for ACAT1  Sigma-Aldrich shRNA for ACAT1  Explore Sigma-Aldrich super-pooled esiRNAs 
Applied Biosystems Silencer® siRNAs: NM_000019 REFSEQ mRNAs for ACAT1 gene: NM_000019.3
Applied Biosystems TaqMan ® Gene Expression Assays: NM_000019               OriGene GFP tagged cDNA clone in CMV expression vector: NM_000019                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_000019                                  untagged cDNA clones in CMV expression vector (see all 2): BC010942  Additional cDNA sequence: AF086561.1 AK312574.1 BC010942.1 D90228.1 S70578.1 10 DOTS entries: DT.95082281 DT.209848 DT.40305180 DT.75122408 DT.40105792 DT.75109020 DT.92033596 DT.120707187 DT.100014180 DT.65286160 24/84 AceView cDNA sequences (see all 84
):NM_000019 BM789408 F36678 CB158309 AA010069 CA776496 F28477 AL041431 AU142655 BP360666 AV708226 AI139512 CA776724 AU117943 BM722006 AU144630 AI202672 T85734 AW297552 BF528753 F27643 AU143159 F28457 BI870235
highest scoring ESTs for ACAT1:AW945161 BQ304506 BQ319846 BQ353622 BQ353629 BQ375090 C01800 D90228 F27643 AA312281 Unigene Cluster for ACAT1: Acetyl-Coenzyme A acetyltransferase 1 Hs.232375 [show with all ESTs]Unigene Representative Sequence: NM_000019
GeneLoc Exon Structure
5/6 Alternative Splicing Database (ASD) splice patterns (SP) for ACAT1 (see all 6
)
| 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: | |   | |   | |   | - |   | - |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   |
About this scheme
ECgene alternative splicing isoforms for ACAT1
3 Ensembl transcripts including schematic representations: ENST00000265838
ENST00000375674
ENST00000299355
|
Expression for ACAT1
(Experimental results according to
1GeneNote
and GNF BioGPS,
probe sets-to-genes annotations according to
2GeneAnnot ,
3GeneTide ,
Sets of similar genes according to GeneDecks,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Expression Assays from
Applied Biosystems
)
About This Section
| ACAT1 expression in normal and diseased human tissues
Applied Biosystems TaqMan ® Gene Expression Assays for ACAT1
1 / 2 / 3 5 probe-sets matching ACAT1 gene Data from
(Publications) and GNF BioGPS About these images About these images
CGAP SAGE TAG: CTAATTCAGA
SOURCE GeneReport for Unigene cluster: Hs.232375
Expression variation in blood from EXPOLDB for ACAT1 |
Orthologs for ACAT1
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
|
Orthologs for ACAT1 gene from 5/26 species (see all 26
)
About this table Species with no ortholog for ACAT1
ENSEMBL Gene Tree for ACAT1 | Paralogs for ACAT1(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| Paralogs for ACAT1 gene
- ACAA22 ACAT22
|
SNPs/Variants for ACAT1(According to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Genotyping Reagents from
Applied Biosystems)
About This Section
|
HapMap Linkage Disequilibrium images for ACAT1 (up to first 250kb)
|
Disorders & Mutations for ACAT1
(in which this Gene is Involved, According to
OMIM, UniProtKB,
Novoseek, PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
HGMD, GAD,
HuGE Navigator,
BCGD,
and/or TGDB.)
About This Section
|
OMIM: 607809 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 genotype4 Novoseek disease relationships for ACAT1 gene
About this table
Genatlas disease: ACAT1 beta-ketothiolase deficiency,recurrent acidosis,ketosis with organic aciduria Human Gene Mutation Database: ACAT1 Genetic Association Database: ACAT1 Human Genome Epidemiology Navigator: ACAT1 (9 documents)
|
Medical News for ACAT1(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications for ACAT1 (in
PubMed.
Associations of this gene to articles via
1Novoseek,
2HGNC,
3Entrez Gene,
4UniProtKB/Swiss-Prot,
5UniProtKB/TrEMBL,
6GAD, and/or
7PharmGKB)
About This Section
| 10/64 PubMed articles for ACAT1 gene (see all 64
):- 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, 4 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, 3, 4 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, 3, 4 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, 3, 4 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, 3, 4 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, 3, 4 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, 3, 4 Fukao T.... Hashimoto T. (1995)
- Structure and expression of the human mitochondrial acetoacetyl-CoA thiolase-encoding gene. (PubMed id 1684944)1, 3, 4 Kano M.... Hashimoto T. (1991)
- 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)3, 4 Aboulaich N.... Vener A.V. (2004)
- 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)3, 6 Ohta T....Fukuyama S. (2004)
|
Search for ACAT1
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing ACAT1
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing ACAT1
(According to HUGE)
About This Section
| -- |
Specialized Databases showing ACAT1(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
|
| Name | Description |
| GeneReviews | http://www.genetests.org/query?gene=ACAT1 |
|
| | | About This Section
| --
| Services for ACAT1(Reagents available from Applied Biosystems, Antibodies and assays by Cell
Signaling Technology, Abcam, Novus Biologicals, Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich, Enzo Life Sciences, and/or Tocris Bioscience) About This Section
| 
 Products for ACAT1:

 | |
 | | | | |
|
 |  |  |
| | | | Tocris compounds for ACAT1 |
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GeneCards Homepage - Last full update: 1 Jul 2009
Incremental update: 13 Oct 2009
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