Acaa1a acetyl-Coenzyme A acyltransferase 1A [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Acaa1aprovided by MGI
Official Full Name: acetyl-Coenzyme A acyltransferase 1Aprovided by MGI
Primary source: MGI:MGI:2148491
See related: Ensembl:ENSMUSG00000036138 AllianceGenome:MGI:2148491
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: PTL; Acaa; Acaa1; D9Ertd25e
Summary: Predicted to enable C-acyltransferase activity; acetate CoA-transferase activity; and palmitoyl-CoA oxidase activity. Predicted to be involved in monocarboxylic acid metabolic process; response to nutrient; and response to steroid hormone. Predicted to act upstream of or within fatty acid metabolic process. Located in peroxisome. Is expressed in several structures, including alimentary system; genitourinary system; integumental system; nervous system; and sensory organ. Orthologous to human ACAA1 (acetyl-CoA acyltransferase 1). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in duodenum adult (RPKM 294.0), liver adult (RPKM 221.7) and 26 other tissues See more
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Genomic context

Location:: 9 F3; 9 71.33 cM

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	9	NC_000075.7 (119170113..119179361)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	9	NC_000075.6 (119341028..119350296)

Chromosome 9 - NC_000075.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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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?

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.
Molecular cloning, gene structure and tissue distribution of 3-ketoacyl-CoA thiolase A.
Title: Molecular cloning, gene structure and expression profile of two mouse peroxisomal 3-ketoacyl-CoA thiolase genes.

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Variation

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Alleles

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

Endonuclease-mediated (1)
Gene trapped (1)
Targeted (1)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables acetate CoA-transferase activity	ISO Inferred from Sequence Orthology more info
enables acetyl-CoA C-acetyltransferase activity	TAS Traceable Author Statement more info	PubMed
enables acetyl-CoA C-acyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables acetyl-CoA C-acyltransferase activity	ISO Inferred from Sequence Orthology more info
enables acetyl-CoA C-acyltransferase activity	ISS Inferred from Sequence or Structural Similarity more info
enables acetyl-CoA C-myristoyltransferase activity	ISO Inferred from Sequence Orthology more info
enables acetyl-CoA C-myristoyltransferase activity	ISS Inferred from Sequence or Structural Similarity more info
enables palmitoyl-CoA oxidase activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in bile acid metabolic process	ISO Inferred from Sequence Orthology more info
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	ISO Inferred from Sequence Orthology more info
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
acts_upstream_of_or_within fatty acid metabolic process	TAS Traceable Author Statement more info	PubMed
involved_in phenylacetate catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in response to nutrient	ISO Inferred from Sequence Orthology more info
involved_in response to steroid hormone	ISO Inferred from Sequence Orthology more info
involved_in very long-chain fatty acid metabolic process	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in mitochondrion	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
located_in peroxisome	IDA Inferred from Direct Assay more info	PubMed
is_active_in peroxisome	ISO Inferred from Sequence Orthology more info
located_in peroxisome	ISO Inferred from Sequence Orthology more info
located_in peroxisome	ISS Inferred from Sequence or Structural Similarity more info
located_in peroxisome	TAS Traceable Author Statement more info	PubMed

General protein information

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Preferred Names: 3-ketoacyl-CoA thiolase A, peroxisomal

Names: acetyl-CoA C-myristoyltransferase; acetyl-CoA acyltransferase A; beta-ketothiolase A; peroxisomal 3-ketoacyl-CoA thiolase; peroxisomal 3-oxoacyl-CoA thiolase A; peroxisomal 3-oxoacyl-Coenzyme A thiolase; thiolase A

NP_001344445.1

EC 2.3.1.155

EC 2.3.1.16

EC 2.3.1.9

NP_001408349.1

EC 2.3.1.155

EC 2.3.1.16

EC 2.3.1.9

NP_570934.1

EC 2.3.1.155

EC 2.3.1.16

EC 2.3.1.9

XP_030099878.1

EC 2.3.1.155

EC 2.3.1.16

EC 2.3.1.9

XP_030099879.1

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.

mRNA and Protein(s)

NM_001357516.1 → NP_001344445.1 3-ketoacyl-CoA thiolase A, peroxisomal isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an alternate exon compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.

Source sequence(s)

AC128702

UniProtKB/TrEMBL

Q8BLD7

Conserved Domains (1) summary

cl27751
Location:1 → 268

Thiolase_N; Thiolase, N-terminal domain
NM_001421420.1 → NP_001408349.1 3-ketoacyl-CoA thiolase A, peroxisomal isoform 1

Status: VALIDATED

Source sequence(s)

AC128702

UniProtKB/Swiss-Prot

Q921H8
NM_130864.3 → NP_570934.1 3-ketoacyl-CoA thiolase A, peroxisomal isoform 1 precursor

See identical proteins and their annotated locations for NP_570934.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AC128702

Consensus CDS

CCDS23613.1

UniProtKB/Swiss-Prot

Q921H8

UniProtKB/TrEMBL

Q3UPU8

Related

ENSMUSP00000042351.6, ENSMUST00000039784.12

Conserved Domains (1) summary

PLN02287
Location:1 → 420

PLN02287; 3-ketoacyl-CoA thiolase

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000075.7 Reference GRCm39 C57BL/6J

Range

119170113..119179361

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_030244019.2 → XP_030099879.1 3-ketoacyl-CoA thiolase A, peroxisomal isoform X1

UniProtKB/Swiss-Prot

Q921H8

UniProtKB/TrEMBL

Q3UPU8

Conserved Domains (1) summary

PLN02287
Location:1 → 420

PLN02287; 3-ketoacyl-CoA thiolase
XM_030244018.2 → XP_030099878.1 3-ketoacyl-CoA thiolase A, peroxisomal isoform X1

UniProtKB/Swiss-Prot

Q921H8

UniProtKB/TrEMBL

Q3UPU8

Conserved Domains (1) summary

PLN02287
Location:1 → 420

PLN02287; 3-ketoacyl-CoA thiolase