Acat1 acetyl-Coenzyme A acetyltransferase 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Acat1provided by MGI
Official Full Name: acetyl-Coenzyme A acetyltransferase 1provided by MGI
Primary source: MGI:MGI:87870
See related: Ensembl:ENSMUSG00000032047 AllianceGenome:MGI:87870
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Acat; 6330585C21Rik
Summary: Enables acetyl-CoA C-acetyltransferase activity. Predicted to be involved in carboxylic acid catabolic process; ketone body catabolic process; and purine nucleoside bisphosphate metabolic process. Predicted to act upstream of or within fatty acid metabolic process. Located in mitochondrial inner membrane. Is expressed in brain; embryo; heart; liver; and metanephros. Human ortholog(s) of this gene implicated in beta-ketothiolase deficiency and carbohydrate metabolic disorder. Orthologous to human ACAT1 (acetyl-CoA acetyltransferase 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in liver E18 (RPKM 193.6), heart adult (RPKM 69.0) and 20 other tissues See more
Orthologs: human all
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Genomic context

Location:: 9 A5.3; 9 29.12 cM

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	9	NC_000075.7 (53491822..53521650, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	9	NC_000075.6 (53580522..53610350, complement)

Chromosome 9 - NC_000075.7 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: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

SCD1 inhibition enhances the effector functions of CD8[+] T cells via ACAT1-dependent reduction of esterified cholesterol.
Title: SCD1 inhibition enhances the effector functions of CD8(+) T cells via ACAT1-dependent reduction of esterified cholesterol.
findings provide detailed insights into the role of free cholesterol in LD and adipocyte function and suggest that ACAT inhibitors have potential utility for managing disorders associated with extreme obesity
Title: Enhanced acyl-CoA:cholesterol acyltransferase activity increases cholesterol levels on the lipid droplet surface and impairs adipocyte function.
A Soat1 deletion present in AKR mice, and resultant N-terminal ACAT1 truncation, was confirmed to be a significant modifier of macrophage cholesterol metabolism.
Title: Quantitative Trait Locus Mapping of Macrophage Cholesterol Metabolism and CRISPR/Cas9 Editing Implicate an ACAT1 Truncation as a Causal Modifier Variant.
Data show that microRNA miR-467b regulates the acetyl-CoA acetyltransferase 1 (ACAT1) expression via targeting ACAT1 3' untranslated regions (3'UTR).
Title: miR-467b regulates the cholesterol ester formation via targeting ACAT1 gene in RAW 264.7 macrophages.
In a mouse model, targeting ACAT1 specifically in a myeloid lineage may benefit atherosclerosis progression by reducing the infiltration of foamy macrophages.
Title: Myeloid Acyl-CoA:Cholesterol Acyltransferase 1 Deficiency Reduces Lesion Macrophage Content and Suppresses Atherosclerosis Progression.
Its blockage enhances autophagy of and reduces human p301L-tau content in brain neurons of pre-symptomatic stage of Alzheimer disease.
Title: Acyl-coenzyme A:cholesterol acyltransferase 1 blockage enhances autophagy in the neurons of triple transgenic Alzheimer's disease mouse and reduces human P301L-tau content at the presymptomatic stage.
Oxidized low-density lipoprotein activated the TLR4/MyD88/NF-kappaB inflammatory signaling pathway in vascular smooth muscle cell, which upregulates the ACAT1 expression and promotes VSMC foam cell formation.
Title: TLR4-mediated inflammation promotes foam cell formation of vascular smooth muscle cell by upregulating ACAT1 expression.
Exacerbation of liver fibrosis by ACAT1 deficiency was dependent on free cholesterol accumulation-induced enhancement of TLR4 signaling.
Title: Acyl-CoA:cholesterol acyltransferase 1 mediates liver fibrosis by regulating free cholesterol accumulation in hepatic stellate cells.
ACAT1 plays important roles in hematopoiesis in normal mouse and in Apoe(-/-) mouse during atherosclerosis development.
Title: Acat1 gene ablation in mice increases hematopoietic progenitor cell proliferation in bone marrow and causes leukocytosis.
ApoA-I Helsinki promotes accumulation of ACAT1 in a mouse macrophage cell line.
Title: Apolipoprotein A-I Helsinki promotes intracellular acyl-CoA cholesterol acyltransferase (ACAT) protein accumulation.

Submit: New GeneRIF Correction See all GeneRIFs (17)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (1)
Endonuclease-mediated (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Acat1 (e-PCR), detects polymorphism
- UniSTS:546624

Acat1 (e-PCR), detects polymorphism
- UniSTS:547401

NoName (e-PCR)
- UniSTS:236128

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables C-acetyltransferase activity	ISO Inferred from Sequence Orthology more info
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	ISO Inferred from Sequence Orthology more info
enables acyltransferase activity	IEA Inferred from Electronic Annotation more info
enables acyltransferase activity, transferring groups other than amino-acyl groups	IEA Inferred from Electronic Annotation more info
enables cholesterol O-acyltransferase activity	ISO Inferred from Sequence Orthology more info
enables coenzyme A binding	ISO Inferred from Sequence Orthology more info
enables enzyme binding	ISO Inferred from Sequence Orthology more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables potassium ion binding	ISO Inferred from Sequence Orthology more info
enables transferase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in acetyl-CoA biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in acetyl-CoA catabolic process	ISO Inferred from Sequence Orthology more info
involved_in coenzyme A biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in coenzyme A metabolic process	ISO Inferred from Sequence Orthology more info
involved_in fatty acid beta-oxidation	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within fatty acid metabolic process	IEA Inferred from Electronic Annotation more info
involved_in isoleucine catabolic process	ISO Inferred from Sequence Orthology more info
involved_in ketone body catabolic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within lipid metabolic process	IEA Inferred from Electronic Annotation more info
involved_in propionyl-CoA biosynthetic process	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
is_active_in endoplasmic reticulum	ISO Inferred from Sequence Orthology more info
located_in mitochondrial inner membrane	HDA more info	PubMed
located_in mitochondrial matrix	ISO Inferred from Sequence Orthology more info
located_in mitochondrion	HDA more info	PubMed
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: acetyl-CoA acetyltransferase, mitochondrial

Names: acetoacetyl-CoA thiolase

NP_659033.1

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.

mRNA and Protein(s)

NM_144784.3 → NP_659033.1 acetyl-CoA acetyltransferase, mitochondrial precursor

See identical proteins and their annotated locations for NP_659033.1

Status: VALIDATED

Source sequence(s)

AC156640

Consensus CDS

CCDS23184.1

UniProtKB/Swiss-Prot

Q3TE92, Q8QZT1

UniProtKB/TrEMBL

Q3TQP7

Related

ENSMUSP00000034547.6, ENSMUST00000034547.6

Conserved Domains (2) summary

PLN02644
Location:38 → 424

PLN02644; acetyl-CoA C-acetyltransferase

cd00751
Location:40 → 423

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 ...