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

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; AllianceGenome:HGNC:82
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; Lnc-Myd88
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: mouse all
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Genomic context

Location:: 3p22.2

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (38122715..38137127, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (38128384..38142796, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (38164206..38178618, complement)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

[Clinical phenotypic and genotypic analysis of 5 pediatric patients with beta-ketothiolase deficiency].
Title: [Clinical phenotypic and genotypic analysis of 5 pediatric patients with β-ketothiolase deficiency].
Inhibition of ACAA1 Restrains Proliferation and Potentiates the Response to CDK4/6 Inhibitors in Triple-Negative Breast Cancer.
Title: Inhibition of ACAA1 Restrains Proliferation and Potentiates the Response to CDK4/6 Inhibitors in Triple-Negative Breast Cancer.
A novel missense variant in ACAA1 contributes to early-onset Alzheimer's disease, impairs lysosomal function, and facilitates amyloid-beta pathology and cognitive decline.
Title: A novel missense variant in ACAA1 contributes to early-onset Alzheimer's disease, impairs lysosomal function, and facilitates amyloid-β pathology and cognitive decline.
Findings suggest that protective effects of endotoxin exposure on asthma may vary depending upon the presence or absence of a polymorphism in ACAA1.
Title: Effects of endotoxin exposure on childhood asthma risk are modified by a genetic polymorphism in ACAA1.
Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Single nucleotide polymorphisms of matrix metalloproteinase 9 (MMP9) and tumor protein 73 (TP73) interact with Epstein-Barr virus in chronic lymphocytic leukemia: results from the European case-control study EpiLymph.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
Title: Polymorphisms in innate immunity genes and risk of childhood leukemia.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D3S3932 (e-PCR)
- UniSTS:8727

GDB:181192 (e-PCR)
- UniSTS:155166

D3S4185 (e-PCR)
- UniSTS:41025

D3S3102 (e-PCR)
- UniSTS:70224

D1S1425 (e-PCR)
- UniSTS:149621

G35510 (e-PCR)
- UniSTS:44150

G54049 (e-PCR)
- UniSTS:109431

WI-19140 (e-PCR)
- UniSTS:70032

STS-X14813 (e-PCR)
- UniSTS:38113

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
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
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	IEA Inferred from Electronic Annotation 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
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 more info	PubMed
located_in peroxisomal matrix	TAS Traceable Author Statement more info
is_active_in peroxisome	IBA Inferred from Biological aspect of Ancestor more info
is_active_in peroxisome	IDA Inferred from Direct Assay 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

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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

EC 2.3.1.155

EC 2.3.1.16

EC 2.3.1.9

NP_001598.1

EC 2.3.1.155

EC 2.3.1.16

EC 2.3.1.9

XP_006713185.1

EC 2.3.1.155

EC 2.3.1.16

EC 2.3.1.9

XP_011531952.1

EC 2.3.1.155

EC 2.3.1.16

EC 2.3.1.9

XP_047304013.1

EC 2.3.1.155

EC 2.3.1.16

EC 2.3.1.9

XP_054202367.1

EC 2.3.1.155

EC 2.3.1.16

EC 2.3.1.9

XP_054202368.1

EC 2.3.1.155

EC 2.3.1.16

EC 2.3.1.9

XP_054202369.1

EC 2.3.1.155

EC 2.3.1.16

EC 2.3.1.9

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

NG_023225.1 RefSeqGene

Range

5116..19528

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001130410.2 → NP_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/TrEMBL

A0A140VJX0

Related

ENSP00000301810.7, ENST00000301810.11

Conserved Domains (1) summary

cl27751
Location:1 → 327

Thiolase_N; Thiolase, N-terminal domain
NM_001607.4 → NP_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

G5E935, P09110, Q96CA6

UniProtKB/TrEMBL

A0A024R2M6, A0A384NL32, C9JDE9

Related

ENSP00000333664.8, ENST00000333167.13

Conserved Domains (1) summary

cl27751
Location:1 → 420

Thiolase_N; Thiolase, N-terminal domain

RNA

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: 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

NC_000003.12 Reference GRCh38.p14 Primary Assembly

Range

38122715..38137127 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006713122.1 → XP_006713185.1 3-ketoacyl-CoA thiolase, peroxisomal isoform X1

UniProtKB/TrEMBL

C9JDE9

Conserved Domains (2) summary

PLN02287
Location:1 → 360

PLN02287; 3-ketoacyl-CoA thiolase

cd00751
Location:39 → 361

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 ...
XM_047448057.1 → XP_047304013.1 3-ketoacyl-CoA thiolase, peroxisomal isoform X3

UniProtKB/TrEMBL

Q8NCW8
XM_011533650.3 → XP_011531952.1 3-ketoacyl-CoA thiolase, peroxisomal isoform X2

UniProtKB/TrEMBL

Q8NCW8

Conserved Domains (1) summary

cd00751
Location:1 → 276

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 ...

Alternate T2T-CHM13v2.0

Genomic

NC_060927.1 Alternate T2T-CHM13v2.0

Range

38128384..38142796 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054346392.1 → XP_054202367.1 3-ketoacyl-CoA thiolase, peroxisomal isoform X1

UniProtKB/TrEMBL

C9JDE9
XM_054346394.1 → XP_054202369.1 3-ketoacyl-CoA thiolase, peroxisomal isoform X3

UniProtKB/TrEMBL

Q8NCW8
XM_054346393.1 → XP_054202368.1 3-ketoacyl-CoA thiolase, peroxisomal isoform X2

UniProtKB/TrEMBL

Q8NCW8