ACAT1 - acetyl-CoA acetyltransferase 1 Gene

Homo sapiens

Also known as T2; MAT; ACAT; THIL

Gene ID: 38 | Gene type: protein coding

About ACAT1

Cytogenetic location: 11q22.3 Genomic coordinates (GRCh38): 11:108,116,705-108,147,603 (from NCBI)

This gene has 22 transcripts (splice variants), 202 orthologues, 4 paralogues and is associated with 3 phenotypes. Broad expression in liver (RPKM 166.9), kidney (RPKM 164.2) and 24 other tissues.

Summary

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]

ACAT1 Products(15)

mRNA	Protein	Name
NM_001386677.1	NP_001373606.1	acetyl-CoA acetyltransferase, mitochondrial isoform a precursor
NM_001386687.1	NP_001373616.1	acetyl-CoA acetyltransferase, mitochondrial isoform e
NM_001386690.1	NP_001373619.1	acetyl-CoA acetyltransferase, mitochondrial isoform e
NM_001386679.1	NP_001373608.1	acetyl-CoA acetyltransferase, mitochondrial isoform d
NM_000019.4	NP_000010.1	acetyl-CoA acetyltransferase, mitochondrial isoform b precursor
NM_001386688.1	NP_001373617.1	acetyl-CoA acetyltransferase, mitochondrial isoform e
NM_001386686.1	NP_001373615.1	acetyl-CoA acetyltransferase, mitochondrial isoform e
NM_001386678.1	NP_001373607.1	acetyl-CoA acetyltransferase, mitochondrial isoform c
NR_170163.1
NR_170162.1
NM_001386685.1	NP_001373614.1	acetyl-CoA acetyltransferase, mitochondrial isoform e
NM_001386689.1	NP_001373618.1	acetyl-CoA acetyltransferase, mitochondrial isoform e
NM_001386682.1	NP_001373611.1	acetyl-CoA acetyltransferase, mitochondrial isoform e
NM_001386691.1	NP_001373620.1	acetyl-CoA acetyltransferase, mitochondrial isoform e
NM_001386681.1	NP_001373610.1	acetyl-CoA acetyltransferase, mitochondrial isoform e

ACAT1 Protein Structure

Thiolase_N

Thiolase_C

0
100
200
300
400
427 a.a.

Protein Preferred Names

Protein Names

acetyl-CoA acetyltransferase, mitochondrial

acetoacetyl Coenzyme A thiolase	acetoacetyl-CoA thiolase
acetyl-Coenzyme A acetyltransferase 1	mitochondrial acetoacetyl-CoA thiolase
testicular tissue protein Li 198

Recombinant ACAT1 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P78986	ACAT1 Protein, Human (His)	P24752-1 (V34-L427)	≥95%

Related Diseases

Diseases

Alias

Alpha-Methylacetoacetic Aciduria

Beta-Ketothiolase Deficiency	3-Ketothiolase Deficiency
3-Oxothiolase Deficiency	Mitochondrial Acetoacetyl-Coa Thiolase Deficiency
Alpha-Methylacetoaceticaciduria	Mat Deficiency
T2 Deficiency	2-Methyl-3-Hydroxybutyricacidemia
Beta Ketothiolase Deficiency	Pseudo-Zellweger Syndrome
2-Methyl-3-Hydroxybutyric Acidemia	3-Ktd Deficiency
Peroxisomal Thiolase Deficiency	2-Methylacetoacetyl-Coenzyme A Thiolase Deficiency
3-Alpha-Oxothiolase Deficiency	Methylacetoacetyl-Coenzyme A Thiolase Deficiency
Mitochondrial 2-Methylacetoacetyl-Coa Thiolase Deficiency - Potassium Stimulated	Β-Ketothiolase Deficiency
Alpha Methylacetoacetic Aciduria	Alpha-Methyl-Acetoacetyl-Coa Thiolase Deficiency
Mitochondrial Acetoacetyl-Coenzyme A Thiolase Deficiency	3KTD
Aciduria, Alpha-Methylacetoacetic	Deficiency Of Acetyl-Coa Acetyltransferase
Deficiency Of Acetyl-Coa Acyltransferase	Hepatic Methionine Adenosyltransferase Deficiency
Bifunctional Peroxisomal Enzyme Deficiency

Ataxia-Telangiectasia

Ataxia Telangiectasia	Louis-Bar Syndrome
AT	At1
Ataxia-Telangiectasia Syndrome	Ataxia - Telangiectasia Variant
Boder-Sedgwick Syndrome	Louis Bar Syndrome
Cerebello-Oculocutaneous Telangiectasia	Immunodeficiency With Ataxia Telangiectasia
A-T	Ataxia Telangiectasia Syndrome
Atm	Telangiectasia, Cerebello-Oculocutaneous
Ataxia-Telangiectasia Variant

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Clinical Phase

Bioactive Molecules (6)

Cat. No.	Product Name	Effect	Purity	Phase
HY-13215	Avasimibe	Inhibitor	99.85%	Phase 3
HY-100401A	Pactimibe sulfate	Inhibitor	≥98.0%	Phase 3
HY-100401	Pactimibe	Inhibitor	99.98%	Phase 3
HY-100400A	K-604 dihydrochloride	Inhibitor	≥99.0%	Phase 2
HY-100399A	Nevanimibe hydrochloride	Inhibitor	99.92%	Phase 2
HY-100399	Nevanimibe	Inhibitor	/	Phase 2

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	ACAT1	RGD	RGD:2016
Macaca mulatta	ACAT1	VGNC	VGNC:69596
Felis catus	ACAT1	VGNC	VGNC:69007
Canis familiaris	ACAT1	VGNC	VGNC:37498
Mus musculus	ACAT1	MGD	MGI:87870
Bos taurus	ACAT1	VGNC	VGNC:25529
Others	ACAT1	NCBI

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