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ACAT1 acetyl-CoA acetyltransferase 1 [ Homo sapiens (human) ]

Gene ID: 38, updated on 27-Nov-2024

Summary

Official Symbol
ACAT1provided by HGNC
Official Full Name
acetyl-CoA acetyltransferase 1provided by HGNC
Primary source
HGNC:HGNC:93
See related
Ensembl:ENSG00000075239 MIM:607809; AllianceGenome:HGNC:93
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
T2; MAT; ACAT; THIL
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]
Annotation information
Note: ACAT1 (Gene ID: 38) and SOAT1 (Gene ID: 6646) share the ACAT1 symbol/alias in common. ACAT1 is a widely used alternative name for sterol O-acyltransferase 1 (SOAT1), which can be confused with the official symbol for ACAT1 (acetyl-CoA acetyltransferase 1, GeneID 38). [01 Jun 2018]
Expression
Broad expression in liver (RPKM 166.9), kidney (RPKM 164.2) and 24 other tissues See more
Orthologs
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Genomic context

See ACAT1 in Genome Data Viewer
Location:
11q22.3
Exon count:
17
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (108116705..108147603)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (108124245..108155151)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (107987432..108018330)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5478 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5479 Neighboring gene Sharpr-MPRA regulatory region 4319 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5480 Neighboring gene cullin 5 Neighboring gene uncharacterized LOC124902748 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:107991956-107992494 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5481 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5482 Neighboring gene MPRA-validated peak1447 silencer Neighboring gene ReSE screen-validated silencer GRCh37_chr11:108021496-108021664 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3877 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 11:108047982 Neighboring gene nuclear protein, coactivator of histone transcription Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 11:108089151 Neighboring gene NANOG hESC enhancer GRCh37_chr11:108089784-108090285 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5483 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5484 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5485 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5486 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5487 Neighboring gene MPRA-validated peak1449 silencer Neighboring gene MPRA-validated peak1450 silencer Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 11:108140516 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:108147863-108148662 Neighboring gene ATM serine/threonine kinase Neighboring gene chromosome 11 open reading frame 65 Neighboring gene MPRA-validated peak1451 silencer

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Vpr vpr A stable-isotope labeling by amino acids in cell culture coupled with mass spectrometry-based proteomics identifies downregulation of acetyl-CoA acetyltransferase 1 (ACAT1) expression by HIV-1 Vpr in Vpr transduced macrophages PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables C-acetyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables acetyl-CoA C-acetyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables acetyl-CoA C-acetyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables acetyl-CoA C-acetyltransferase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables cholesterol O-acyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables coenzyme A binding IEA
Inferred from Electronic Annotation
more info
 
enables enzyme binding IEA
Inferred from Electronic Annotation
more info
 
enables identical protein binding IEA
Inferred from Electronic Annotation
more info
 
enables potassium ion binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
involved_in acetyl-CoA biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in acetyl-CoA catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in adipose tissue development IEA
Inferred from Electronic Annotation
more info
 
involved_in coenzyme A biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in coenzyme A metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in fatty acid beta-oxidation IEA
Inferred from Electronic Annotation
more info
 
involved_in isoleucine catabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in isoleucine catabolic process TAS
Traceable Author Statement
more info
PubMed 
involved_in ketone body catabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in ketone body metabolic process IC
Inferred by Curator
more info
PubMed 
involved_in liver development IEA
Inferred from Electronic Annotation
more info
 
involved_in metanephric proximal convoluted tubule development IEA
Inferred from Electronic Annotation
more info
 
involved_in propionyl-CoA biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in response to hormone IEA
Inferred from Electronic Annotation
more info
 
involved_in response to organic cyclic compound IEA
Inferred from Electronic Annotation
more info
 
involved_in response to starvation IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
acetyl-CoA acetyltransferase, mitochondrial
Names
acetoacetyl Coenzyme A thiolase
acetoacetyl-CoA thiolase
acetyl-Coenzyme A acetyltransferase 1
mitochondrial acetoacetyl-CoA thiolase
testicular tissue protein Li 198
NP_000010.1
NP_001373606.1
NP_001373607.1
NP_001373608.1
NP_001373610.1
NP_001373611.1
NP_001373614.1
NP_001373615.1
NP_001373616.1
NP_001373617.1
NP_001373618.1
NP_001373619.1
NP_001373620.1

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_009888.2 RefSeqGene

    Range
    9863..35899
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1400

mRNA and Protein(s)

  1. NM_000019.4NP_000010.1  acetyl-CoA acetyltransferase, mitochondrial isoform b precursor

    See identical proteins and their annotated locations for NP_000010.1

    Status: REVIEWED

    Source sequence(s)
    AW081574, D90228
    Consensus CDS
    CCDS8339.1
    UniProtKB/Swiss-Prot
    B2R6H1, G3XAB4, P24752, Q96FG8
    UniProtKB/TrEMBL
    A0A140VJX1
    Related
    ENSP00000265838.4, ENST00000265838.9
    Conserved Domains (1) summary
    cd00751
    Location:43426
    thiolase; Thiolase are ubiquitous enzymes that catalyze the reversible thiolytic cleavage of 3-ketoacyl-CoA into acyl-CoA and acetyl-CoA, a 2-step reaction involving a covalent intermediate formed with a catalytic cysteine. They are found in prokaryotes and ...
  2. NM_001386677.1NP_001373606.1  acetyl-CoA acetyltransferase, mitochondrial isoform a precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (a).
    Source sequence(s)
    AP002433
    Consensus CDS
    CCDS91579.1
    UniProtKB/TrEMBL
    A0A5F9ZHL1
    Related
    ENSP00000500490.1, ENST00000672354.1
    Conserved Domains (1) summary
    cd00751
    Location:43433
    thiolase; Thiolase are ubiquitous enzymes that catalyze the reversible thiolytic cleavage of 3-ketoacyl-CoA into acyl-CoA and acetyl-CoA, a 2-step reaction involving a covalent intermediate formed with a catalytic cysteine. They are found in prokaryotes and ...
  3. NM_001386678.1NP_001373607.1  acetyl-CoA acetyltransferase, mitochondrial isoform c

    Status: REVIEWED

    Source sequence(s)
    AP002433
    Consensus CDS
    CCDS91580.1
    UniProtKB/TrEMBL
    A0A5F9ZHD4, A0A5F9ZI66
    Related
    ENSP00000500928.1, ENST00000672907.2
    Conserved Domains (1) summary
    cd00751
    Location:41321
    thiolase; Thiolase are ubiquitous enzymes that catalyze the reversible thiolytic cleavage of 3-ketoacyl-CoA into acyl-CoA and acetyl-CoA, a 2-step reaction involving a covalent intermediate formed with a catalytic cysteine. They are found in prokaryotes and ...
  4. NM_001386679.1NP_001373608.1  acetyl-CoA acetyltransferase, mitochondrial isoform d

    Status: REVIEWED

    Source sequence(s)
    AP002433
    UniProtKB/TrEMBL
    A0A5F9ZHD4
    Conserved Domains (1) summary
    cd00751
    Location:10327
    thiolase; Thiolase are ubiquitous enzymes that catalyze the reversible thiolytic cleavage of 3-ketoacyl-CoA into acyl-CoA and acetyl-CoA, a 2-step reaction involving a covalent intermediate formed with a catalytic cysteine. They are found in prokaryotes and ...
  5. NM_001386681.1NP_001373610.1  acetyl-CoA acetyltransferase, mitochondrial isoform e

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5), as well as variants 6-13, encodes isoform e.
    Source sequence(s)
    AP002433
    Consensus CDS
    CCDS91581.1
    UniProtKB/TrEMBL
    A0A5F9ZHD4, A0A5F9ZHJ0
    Related
    ENSP00000500444.1, ENST00000672284.1
    Conserved Domains (1) summary
    cd00751
    Location:1336
    thiolase; Thiolase are ubiquitous enzymes that catalyze the reversible thiolytic cleavage of 3-ketoacyl-CoA into acyl-CoA and acetyl-CoA, a 2-step reaction involving a covalent intermediate formed with a catalytic cysteine. They are found in prokaryotes and ...
  6. NM_001386682.1NP_001373611.1  acetyl-CoA acetyltransferase, mitochondrial isoform e

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6), as well as variants 5 and 7-13, encodes isoform e.
    Source sequence(s)
    AP002433
    Consensus CDS
    CCDS91581.1
    UniProtKB/TrEMBL
    A0A5F9ZHD4, A0A5F9ZHJ0
    Conserved Domains (1) summary
    cd00751
    Location:1336
    thiolase; Thiolase are ubiquitous enzymes that catalyze the reversible thiolytic cleavage of 3-ketoacyl-CoA into acyl-CoA and acetyl-CoA, a 2-step reaction involving a covalent intermediate formed with a catalytic cysteine. They are found in prokaryotes and ...
  7. NM_001386685.1NP_001373614.1  acetyl-CoA acetyltransferase, mitochondrial isoform e

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7), as well as variants 5, 6, and 8-13, encodes isoform e.
    Source sequence(s)
    AP002433
    Consensus CDS
    CCDS91581.1
    UniProtKB/TrEMBL
    A0A5F9ZHD4, A0A5F9ZHJ0
    Related
    ENSP00000500163.1, ENST00000673531.1
    Conserved Domains (1) summary
    cd00751
    Location:1336
    thiolase; Thiolase are ubiquitous enzymes that catalyze the reversible thiolytic cleavage of 3-ketoacyl-CoA into acyl-CoA and acetyl-CoA, a 2-step reaction involving a covalent intermediate formed with a catalytic cysteine. They are found in prokaryotes and ...
  8. NM_001386686.1NP_001373615.1  acetyl-CoA acetyltransferase, mitochondrial isoform e

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8), as well as variants 5-7 and 9-13, encodes isoform e.
    Source sequence(s)
    AP002433
    Consensus CDS
    CCDS91581.1
    UniProtKB/TrEMBL
    A0A5F9ZHD4, A0A5F9ZHJ0
    Conserved Domains (1) summary
    cd00751
    Location:1336
    thiolase; Thiolase are ubiquitous enzymes that catalyze the reversible thiolytic cleavage of 3-ketoacyl-CoA into acyl-CoA and acetyl-CoA, a 2-step reaction involving a covalent intermediate formed with a catalytic cysteine. They are found in prokaryotes and ...
  9. NM_001386687.1NP_001373616.1  acetyl-CoA acetyltransferase, mitochondrial isoform e

    Status: REVIEWED

    Description
    Transcript Variant: This variant (9), as well as variants 5-8 and 10-13, encodes isoform e.
    Source sequence(s)
    AP002433
    Consensus CDS
    CCDS91581.1
    UniProtKB/TrEMBL
    A0A5F9ZHD4, A0A5F9ZHJ0
    Conserved Domains (1) summary
    cd00751
    Location:1336
    thiolase; Thiolase are ubiquitous enzymes that catalyze the reversible thiolytic cleavage of 3-ketoacyl-CoA into acyl-CoA and acetyl-CoA, a 2-step reaction involving a covalent intermediate formed with a catalytic cysteine. They are found in prokaryotes and ...
  10. NM_001386688.1NP_001373617.1  acetyl-CoA acetyltransferase, mitochondrial isoform e

    Status: REVIEWED

    Description
    Transcript Variant: This variant (10), as well as variants 5-9 and 11-13, encodes isoform e.
    Source sequence(s)
    AP002433
    Consensus CDS
    CCDS91581.1
    UniProtKB/TrEMBL
    A0A5F9ZHD4, A0A5F9ZHJ0
    Conserved Domains (1) summary
    cd00751
    Location:1336
    thiolase; Thiolase are ubiquitous enzymes that catalyze the reversible thiolytic cleavage of 3-ketoacyl-CoA into acyl-CoA and acetyl-CoA, a 2-step reaction involving a covalent intermediate formed with a catalytic cysteine. They are found in prokaryotes and ...
  11. NM_001386689.1NP_001373618.1  acetyl-CoA acetyltransferase, mitochondrial isoform e

    Status: REVIEWED

    Description
    Transcript Variant: This variant (11), as well as variants 5-10, 12, and 13, encodes isoform e.
    Source sequence(s)
    AP002433
    Consensus CDS
    CCDS91581.1
    UniProtKB/TrEMBL
    A0A5F9ZHD4, A0A5F9ZHJ0
    Conserved Domains (1) summary
    cd00751
    Location:1336
    thiolase; Thiolase are ubiquitous enzymes that catalyze the reversible thiolytic cleavage of 3-ketoacyl-CoA into acyl-CoA and acetyl-CoA, a 2-step reaction involving a covalent intermediate formed with a catalytic cysteine. They are found in prokaryotes and ...
  12. NM_001386690.1NP_001373619.1  acetyl-CoA acetyltransferase, mitochondrial isoform e

    Status: REVIEWED

    Description
    Transcript Variant: This variant (12), as well as variants 5-11 and 13, encodes isoform e.
    Source sequence(s)
    AP002433
    Consensus CDS
    CCDS91581.1
    UniProtKB/TrEMBL
    A0A5F9ZHD4, A0A5F9ZHJ0
    Conserved Domains (1) summary
    cd00751
    Location:1336
    thiolase; Thiolase are ubiquitous enzymes that catalyze the reversible thiolytic cleavage of 3-ketoacyl-CoA into acyl-CoA and acetyl-CoA, a 2-step reaction involving a covalent intermediate formed with a catalytic cysteine. They are found in prokaryotes and ...
  13. NM_001386691.1NP_001373620.1  acetyl-CoA acetyltransferase, mitochondrial isoform e

    Status: REVIEWED

    Description
    Transcript Variant: This variant (13), as well as variants 5-12, encodes isoform e.
    Source sequence(s)
    AP002433
    Consensus CDS
    CCDS91581.1
    UniProtKB/TrEMBL
    A0A5F9ZHD4, A0A5F9ZHJ0
    Conserved Domains (1) summary
    cd00751
    Location:1336
    thiolase; Thiolase are ubiquitous enzymes that catalyze the reversible thiolytic cleavage of 3-ketoacyl-CoA into acyl-CoA and acetyl-CoA, a 2-step reaction involving a covalent intermediate formed with a catalytic cysteine. They are found in prokaryotes and ...

RNA

  1. NR_170162.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AP002433
    Related
    ENST00000672031.1
  2. NR_170163.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AP002433

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    108116705..108147603
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    108124245..108155151
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)