ACAT1 - acetyl-CoA acetyltransferase 1 Gene

Also Known as T2; MAT; ACAT; THIL

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 38

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

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables C-acetyltransferase activity IDA
IDA: Inferred from direct assay
17371050 GOA
enables acetyl-CoA C-acetyltransferase activity IDA
IDA: Inferred from direct assay
17371050 GOA
enables acetyl-CoA C-acetyltransferase activity IMP
IMP: Inferred from mutant phenotype
1979337 GOA
enables cholesterol O-acyltransferase activity IDA
IDA: Inferred from direct assay
32944968 GOA
enables potassium ion binding IDA
IDA: Inferred from direct assay
17371050 GOA
Biological Process GO Annotation Evidence References Source
involved in acetyl-CoA biosynthetic process IDA
IDA: Inferred from direct assay
17371050 GOA
involved in acetyl-CoA catabolic process IDA
IDA: Inferred from direct assay
17371050 GOA
involved in coenzyme A biosynthetic process IDA
IDA: Inferred from direct assay
17371050 GOA
involved in coenzyme A metabolic process IDA
IDA: Inferred from direct assay
17371050 GOA
involved in isoleucine catabolic process IMP
IMP: Inferred from mutant phenotype
1979337 GOA
involved in ketone body catabolic process IMP
IMP: Inferred from mutant phenotype
1979337 GOA
involved in propionyl-CoA biosynthetic process IDA
IDA: Inferred from direct assay
17371050 GOA
Cellular Component GO Annotation Evidence References Source
is active in endoplasmic reticulum IDA
IDA: Inferred from direct assay
32944968 GOA
located in mitochondrion IDA
IDA: Inferred from direct assay
1979337 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ACAT1 Protein Structure

Thiolase_N

Thiolase_N: Thiolase, N-terminal domain (40 - 298)

Thiolase_C

Thiolase_C: Thiolase, C-terminal domain (307 - 426)

  • 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) ≥ 90%, as determined by reducing SDS-PAGE.

ACAT1 Antibodies

Cat. No. Product Name Application Reactivity
HY-P82226 ACAT1 Antibody (YA1971) WB, IHC-P, IP Human, Mouse, Rat
HY-P82226A ACAT1 Antibody (YA1971)(PBS only) WB, IP Human

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
  • Pre-clinical Phase

Clinical Phase

Bioactive Molecules (4)
Cat. No. Product Name Effect
Purity Phase
HY-13215 Avasimibe Inhibitor 99.85% Phase 3
HY-100401 Pactimibe Inhibitor 99.98% Phase 3
HY-100400A K-604 dihydrochloride Inhibitor 99.42% Phase 2
HY-100399A Nevanimibe hydrochloride Inhibitor 99.49% Phase 2

Pre-clinical Phase

Bioactive Molecules (3)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-100399 Nevanimibe Inhibitor 98.99% Yes
HY-100401A Pactimibe sulfate Inhibitor 98.0% Unkown
HY-N18066 Esculeogenin A Inhibitor / Unkown

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