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ACAT2 acetyl-CoA acetyltransferase 2 [ Homo sapiens (human) ]

Gene ID: 39, updated on 7-Jun-2020

Summary

Official Symbol
ACAT2provided by HGNC
Official Full Name
acetyl-CoA acetyltransferase 2provided by HGNC
Primary source
HGNC:HGNC:94
See related
Ensembl:ENSG00000120437 MIM:100678
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
Summary
The product of this gene is an enzyme involved in lipid metabolism, and it encodes cytosolic acetoacetyl-CoA thiolase. This gene shows complementary overlapping with the 3-prime region of the TCP1 gene in both mouse and human. These genes are encoded on opposite strands of DNA, as well as in opposite transcriptional orientation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2014]
Annotation information
Note: ACAT2 (Gene ID: 39) and SOAT2 (Gene ID: 8435) share the ACAT2 symbol/alias in common. ACAT2 is a widely used alternative name for sterol O-acyltransferase 2 (SOAT2), which can be confused with acetyl-CoA acetyltransferase 2 (ACAT2). [20 Jun 2018]
Note: ACAT2 (GeneID 39) and SOAT2 (GeneID 8435) loci share the ACAT2 symbol/alias in common. ACAT2 is widely used alternative name for acyl-Coenzyme A: cholesterol acyltransferase 2 (SOAT2) conflicting with the official symbol for acetyl-Coenzyme A acetyltransferase 2 (acetoacetyl Coenzyme A thiolase) (ACAT2). [13 Feb 2013]
Expression
Ubiquitous expression in liver (RPKM 42.3), brain (RPKM 30.7) and 24 other tissues See more
Orthologs

Genomic context

See ACAT2 in Genome Data Viewer
Location:
6q25.3
Exon count:
10
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (159762045..159779112)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (160182989..160200087)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene superoxide dismutase 2 Neighboring gene RNA, U4atac small nuclear 18, pseudogene Neighboring gene WT1 associated protein Neighboring gene SOD2 overlapping transcript 1 Neighboring gene small nucleolar RNA, H/ACA box 20 Neighboring gene t-complex 1 Neighboring gene small nucleolar RNA, H/ACA box 29

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?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
acetyl-CoA C-acetyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
acetyl-CoA C-acetyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
acetyl-CoA C-acyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cholesterol biosynthetic process TAS
Traceable Author Statement
more info
 
fatty acid beta-oxidation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
lipid metabolic process IC
Inferred by Curator
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleolus IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
acetyl-CoA acetyltransferase, cytosolic
Names
acetoacetyl Coenzyme A thiolase
acetyl-CoA transferase-like protein
cytosolic acetoacetyl-CoA thiolase
NP_001290182.1
NP_005882.2

NCBI Reference Sequences (RefSeq)

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_023389.2 RefSeqGene

    Range
    5089..22156
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001303253.1NP_001290182.1  acetyl-CoA acetyltransferase, cytosolic isoform 2

    See identical proteins and their annotated locations for NP_001290182.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and has an alternate 5' coding region, compared to variant 1. The resulting isoform (2) is longer and has a distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AK294273
    UniProtKB/Swiss-Prot
    Q9BWD1
    Conserved Domains (2) summary
    PRK05790
    Location:49425
    PRK05790; putative acyltransferase; Provisional
    cd00751
    Location:45425
    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_005891.3NP_005882.2  acetyl-CoA acetyltransferase, cytosolic isoform 1

    See identical proteins and their annotated locations for NP_005882.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the predominant transcript and encodes the shorter isoform (1).
    Source sequence(s)
    AF356877, AL135914, BM997310, BP210609
    Consensus CDS
    CCDS5268.1
    UniProtKB/Swiss-Prot
    Q9BWD1
    Related
    ENSP00000356015.4, ENST00000367048.5
    Conserved Domains (2) summary
    PRK05790
    Location:8396
    PRK05790; putative acyltransferase; Provisional
    cd00751
    Location:9396
    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 ...

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    159762045..159779112
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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