AACS (gene)

AACS
Identifiers
Aliases	AACS , ACSF1, SUR-5, acetoacetyl-CoA synthetase
External IDs	OMIM: 614364; MGI: 1926144; HomoloGene: 11322; GeneCards: AACS; OMA:AACS - orthologs
Gene location (Human) Chr. Chromosome 12 (human) [1] Band 12q24.31 Start 125,065,434 bp [1] End 125,143,333 bp [1]
Gene location (Mouse) Chr. Chromosome 5 (mouse) [2] Band 5|5 G1.1 Start 125,552,878 bp [2] End 125,594,474 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in parotid gland gingival epithelium skin of arm nipple middle temporal gyrus vulva trachea tibia human penis skin of thigh Top expressed in right kidney tunica adventitia of aorta granulocyte proximal tubule lumbar spinal ganglion lip brown adipose tissue trachea white adipose tissue morula More reference expression data BioGPS n/a
Gene ontology Molecular function nucleotide binding butyrate-CoA ligase activity ligase activity protein binding catalytic activity ATP binding acetoacetate-CoA ligase activity Cellular component cytoplasm cytosol Biological process response to organic cyclic compound response to nutrient lipid metabolism cellular response to testosterone stimulus cellular response to cholesterol fatty acid metabolic process response to purine-containing compound ketone body biosynthetic process response to organonitrogen compound response to starvation white fat cell differentiation liver development adipose tissue development metabolism response to ethanol cellular response to glucose stimulus response to oleic acid positive regulation of insulin secretion Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 65985 78894 Ensembl ENSG00000081760 ENSMUSG00000029482 UniProt Q86V21 Q9D2R0 RefSeq (mRNA) NM_023928 NM_001319839 NM_001319840 NM_030210 RefSeq (protein) NP_001306768 NP_001306769 NP_076417 NP_084486 Location (UCSC) Chr 12: 125.07 – 125.14 Mb Chr 5: 125.55 – 125.59 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

The acetoacetyl-CoA synthetase (AACS) gene encodes a protein of the same name, which converts acetoacetate to acetoacetyl-CoA, and plays a crucial role in ketone body utilization and fatty acid synthesis. The gene is found on human chromosome 12.

The AACS protein is a member of the acyl-CoA synthetase family and is involved in cellular energy production, ketogenesis, and cholesterol synthesis. ^[5] It is expressed in a wide range of human tissues. ^[6]

Function

The protein's function is regulated transcriptionally by sterol regulatory element-binding protein (SREBP) and peroxisome proliferator-activated receptor gamma (PPARγ). ^[7]

References

1. GRCh38: Ensembl release 89: ENSG00000081760 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000029482 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "Q86V21 · AACS_HUMAN". www.uniprot.org. Uniprot. Retrieved 2023-12-09.
6. "AACS acetoacetyl-CoA synthetase". www.ncbi.nlm.nih.gov. NCBI Gene. Retrieved 2023-12-09.
7. Aguiló F, Camarero N, Relat J, Marrero PF, Haro D (March 2010). "Transcriptional regulation of the human acetoacetyl-CoA synthetase gene by PPARgamma" (PDF). The Biochemical Journal. 427 (2): 255–264. doi:10.1042/bj20090851. PMID   20102333. S2CID   1043396.