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ACAA1 acetyl-CoA acyltransferase 1 [ Homo sapiens (human) ]

Gene ID: 30, updated on 8-Jul-2021

Summary

Official Symbol
ACAA1provided by HGNC
Official Full Name
acetyl-CoA acyltransferase 1provided by HGNC
Primary source
HGNC:HGNC:82
See related
Ensembl:ENSG00000060971 MIM:604054
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
ACAA; THIO; PTHIO
Summary
This gene encodes an enzyme operative in the beta-oxidation system of the peroxisomes. Deficiency of this enzyme leads to pseudo-Zellweger syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]
Expression
Broad expression in liver (RPKM 125.0), kidney (RPKM 97.3) and 24 other tissues See more
Orthologs
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Genomic context

See ACAA1 in Genome Data Viewer
Location:
3p22.2
Exon count:
12
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (38122710..38137127, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (38164206..38178618, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene DLEC1 cilia and flagella associated protein Neighboring gene protein phosphatase 2 regulatory subunit Bdelta pseudogene 1 Neighboring gene uncharacterized LOC105377033 Neighboring gene uncharacterized LOC101928234 Neighboring gene MYD88 innate immune signal transduction adaptor Neighboring gene oxidative stress responsive kinase 1

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
enables acetate CoA-transferase activity EXP
Inferred from Experiment
more info
PubMed 
enables acetyl-CoA C-acetyltransferase activity IEA
Inferred from Electronic Annotation
more info
 
enables acetyl-CoA C-acyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables acetyl-CoA C-acyltransferase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
enables acetyl-CoA C-acyltransferase activity TAS
Traceable Author Statement
more info
 
enables acetyl-CoA C-myristoyltransferase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
enables palmitoyl-CoA oxidase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in alpha-linolenic acid metabolic process TAS
Traceable Author Statement
more info
 
involved_in bile acid metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in bile acid metabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in fatty acid beta-oxidation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in fatty acid beta-oxidation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in fatty acid beta-oxidation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in fatty acid beta-oxidation using acyl-CoA oxidase TAS
Traceable Author Statement
more info
 
involved_in phenylacetate catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in very long-chain fatty acid metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
located_in cytosol TAS
Traceable Author Statement
more info
 
located_in extracellular region TAS
Traceable Author Statement
more info
 
located_in membrane HDA PubMed 
located_in peroxisomal matrix TAS
Traceable Author Statement
more info
 
is_active_in peroxisome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in peroxisome IDA
Inferred from Direct Assay
more info
PubMed 
located_in specific granule lumen TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
3-ketoacyl-CoA thiolase, peroxisomal
Names
acetyl-CoA C-myristoyltransferase
acetyl-Coenzyme A acyltransferase 1
beta-ketothiolase
epididymis secretory sperm binding protein
peroxisomal 3-oxoacyl-CoA thiolase
peroxisomal 3-oxoacyl-Coenzyme A thiolase
testicular tissue protein Li 197
NP_001123882.1
NP_001598.1
XP_006713185.1
XP_006713186.1
XP_011531952.1

NCBI Reference Sequences (RefSeq)

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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_023225.1 RefSeqGene

    Range
    5116..19528
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001130410.2NP_001123882.1  3-ketoacyl-CoA thiolase, peroxisomal isoform b

    See identical proteins and their annotated locations for NP_001123882.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks alternate in-frame exons, compared to variant 1, resulting in a shorter protein (isoform b), compared to isoform a.
    Source sequence(s)
    BC011977, BC014474, DC312566
    Consensus CDS
    CCDS46794.1
    UniProtKB/Swiss-Prot
    P09110
    UniProtKB/TrEMBL
    A0A140VJX0
    Related
    ENSP00000301810.7, ENST00000301810.11
    Conserved Domains (1) summary
    cl27751
    Location:1327
    Thiolase_N; Thiolase, N-terminal domain
  2. NM_001607.4NP_001598.1  3-ketoacyl-CoA thiolase, peroxisomal isoform a

    See identical proteins and their annotated locations for NP_001598.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
    Source sequence(s)
    BC011977, DC312566
    Consensus CDS
    CCDS2673.1
    UniProtKB/Swiss-Prot
    P09110
    UniProtKB/TrEMBL
    A0A024R2M6
    Related
    ENSP00000333664.8, ENST00000333167.13
    Conserved Domains (1) summary
    cl27751
    Location:1420
    Thiolase_N; Thiolase, N-terminal domain

RNA

  1. NR_024024.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an alternate exon in the coding region, compared to variant 1, which results in a frameshift and early stop codon. The transcript is sufficiently abundant to represent as a RefSeq record; however, the predicted protein is not represented because the product is significantly truncated and the transcript is a candidate for nonsense-mediated decay (NMD).
    Source sequence(s)
    AF035295, BC011977, BC039837, DC312566
    Related
    ENST00000411549.5

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    38122710..38137127 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006713123.2XP_006713186.1  3-ketoacyl-CoA thiolase, peroxisomal isoform X3

    Conserved Domains (1) summary
    cd00751
    Location:1269
    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. XM_011533650.2XP_011531952.1  3-ketoacyl-CoA thiolase, peroxisomal isoform X2

    Conserved Domains (1) summary
    cd00751
    Location:1276
    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. XM_006713122.1XP_006713185.1  3-ketoacyl-CoA thiolase, peroxisomal isoform X1

    Conserved Domains (2) summary
    PLN02287
    Location:1360
    PLN02287; 3-ketoacyl-CoA thiolase
    cd00751
    Location:39361
    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 ...
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