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ACAA2 acetyl-CoA acyltransferase 2 [ Homo sapiens (human) ]

Gene ID: 10449, updated on 7-Jun-2020

Summary

Official Symbol
ACAA2provided by HGNC
Official Full Name
acetyl-CoA acyltransferase 2provided by HGNC
Primary source
HGNC:HGNC:83
See related
Ensembl:ENSG00000167315 MIM:604770
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
DSAEC
Summary
The encoded protein catalyzes the last step of the mitochondrial fatty acid beta-oxidation spiral. Unlike most mitochondrial matrix proteins, it contains a non-cleavable amino-terminal targeting signal. [provided by RefSeq, Jul 2008]
Expression
Broad expression in liver (RPKM 207.5), kidney (RPKM 133.1) and 19 other tissues See more
Orthologs

Genomic context

See ACAA2 in Genome Data Viewer
Location:
18q21.1
Exon count:
10
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 18 NC_000018.10 (49782164..49813533, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (47309874..47340306, complement)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372112 Neighboring gene uncharacterized LOC112268210 Neighboring gene single-strand-selective monofunctional uracil-DNA glycosylase 1 pseudogene 1 Neighboring gene uncharacterized LOC107984031 Neighboring gene small Cajal body-specific RNA 17 Neighboring gene small nucleolar RNA host gene 22 Neighboring gene myosin VB Neighboring gene Sharpr-MPRA regulatory region 7262

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?

Phenotypes

NHGRI GWAS Catalog

Description
A genome-wide search for quantitative trait loci affecting the cortical surface area and thickness of Heschl's gyrus.
NHGRI GWA Catalog
Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans.
NHGRI GWA Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Vpr vpr HIV-1 Vpr enhances PPARbeta/delta-induced PDK4, carnitine palmitoyltransferase I (CPT1), and acetyl-coenzyme A acyltransferase 2 (ACAA2) mRNA expression in cells 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

Homology

Clone Names

  • FLJ35992, FLJ95265

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA binding HDA PubMed 
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 
acetyl-CoA C-acyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
acetyl-CoA C-acyltransferase activity NAS
Non-traceable Author Statement
more info
PubMed 
acetyl-CoA hydrolase activity IEA
Inferred from Electronic Annotation
more info
 
acyl-CoA hydrolase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
myristoyl-CoA hydrolase activity IEA
Inferred from Electronic Annotation
more info
 
palmitoyl-CoA hydrolase activity IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
mitochondrial matrix TAS
Traceable Author Statement
more info
 
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrion NAS
Non-traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
3-ketoacyl-CoA thiolase, mitochondrial
Names
T1
acetyl-CoA acetyltransferase
acetyl-Coenzyme A acyltransferase 2
acyl-CoA hydrolase, mitochondrial
beta ketothiolase
mitochondrial 3-oxoacyl-CoA thiolase
mitochondrial 3-oxoacyl-Coenzyme A thiolase
NP_006102.2

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.

mRNA and Protein(s)

  1. NM_006111.3NP_006102.2  3-ketoacyl-CoA thiolase, mitochondrial

    See identical proteins and their annotated locations for NP_006102.2

    Status: REVIEWED

    Source sequence(s)
    AC090227, AK054673, BC001918
    Consensus CDS
    CCDS11939.1
    UniProtKB/Swiss-Prot
    P42765
    UniProtKB/TrEMBL
    B3KNP8
    Related
    ENSP00000285093.8, ENST00000285093.15
    Conserved Domains (1) summary
    cd00751
    Location:8394
    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_000018.10 Reference GRCh38.p13 Primary Assembly

    Range
    49782164..49813533 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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