Gene Gene information from NCBI Gene database.
Entrez ID 65985
Gene name Acetoacetyl-CoA synthetase
Gene symbol AACS
Synonyms (NCBI Gene)
ACSF1SUR-5
Chromosome 12
Chromosome location 12q24.31
miRNA miRNA information provided by mirtarbase database.
223
miRTarBase ID miRNA Experiments Reference
MIRT003093 hsa-miR-122-5p Luciferase reporter assayqRT-PCR 19296470
MIRT045810 hsa-miR-191-5p CLASH 23622248
MIRT037034 hsa-miR-877-3p CLASH 23622248
MIRT531947 hsa-miR-3614-5p PAR-CLIP 22012620
MIRT531946 hsa-miR-589-3p PAR-CLIP 22012620
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
14
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0005515 Function Protein binding IPI 25416956
GO:0005524 Function ATP binding IEA
GO:0005737 Component Cytoplasm IEA
GO:0005829 Component Cytosol IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
614364 21298 ENSG00000081760
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q86V21
Protein name Acetoacetyl-CoA synthetase (EC 6.2.1.16) (Acyl-CoA synthetase family member 1) (Protein sur-5 homolog)
Protein function Converts acetoacetate to acetoacetyl-CoA in the cytosol (By similarity). Ketone body-utilizing enzyme, responsible for the synthesis of cholesterol and fatty acids (By similarity).
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF16177 ACAS_N 47 105 Acetyl-coenzyme A synthetase N-terminus Family
PF00501 AMP-binding 103 546 AMP-binding enzyme Family
Tissue specificity TISSUE SPECIFICITY: Highly expressed in kidney, heart and brain, but low in liver. {ECO:0000269|PubMed:12623130}.
Sequence
MSKEERPGREEILECQVMWEPDSKKNTQMDRFRAAVGAACGLALESYDDLYHWSVESYSD
FWAEFWKFSGIVFSRVYDEVVDTSKGIADVPEWFKGSRLNYA
ENLLRHKENDRVALYIAR
EGKEEIVKVTFEELRQEVALFAAAMRKMGVKKGDRVVGYLPNSEHAVEAMLAAASIGAIW
SSTSPDFGVNGVLDRFSQIQPKLIFSVEAVVYNGKEHNHMEKLQQVVKGLPDLKKVVVIP
YVSSRENIDLSKIPNSVFLDDFLATGTSEQAPQLEFEQLPFSHPLFIMFSSGTTGAPKCM
VHSAGGTLIQHLKEHLLHGNMTSSDILLCYTTVGWMMWNWMVSLLATGAAMVLYDGSPLV
PTPNVLWDLVDRIGITVLVTGAKWLSVLEEKAMKPVETHSLQMLHTILSTGSPLKAQSYE
YVYRCIKSSILLGSISGGTDIISCFMGHNFSLPVYKGEIQARNLGMAVEAWNEEGKAVWG
ESGELVCTKPIPCQPTHFWNDENGNKYRKAYFSKFPGIWAHGDYCRINPKTGGIVMLGRS
DGTLNP
NGVRFGSSEIYNIVESFEEVEDSLCVPQYNKYREERVILFLKMASGHAFQPDLV
KRIRDAIRMGLSARHVPSLILETKGIPYTLNGKKVEVAVKQIIAGKAVEQGGAFSNPETL
DLYRDIPELQGF
Sequence length 672
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Valine, leucine and isoleucine degradation
Butanoate metabolism
Metabolic pathways
  Synthesis of Ketone Bodies
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
15
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 24452951 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 36205594 Stimulate
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 35924107 Associate
★☆☆☆☆
Found in Text Mining only
Insulin Resistance Diabetes mellitus, type 2 Pubtator 30913280 Associate
★☆☆☆☆
Found in Text Mining only
Leukemia, Myelocytic, Acute Leukemia GWASCAT_DG 27903959
★☆☆☆☆
Found in Text Mining only
Metabolic Syndrome Metabolic syndrome Pubtator 30913280 Associate
★☆☆☆☆
Found in Text Mining only
Neuroblastoma Neuroblastoma BEFREE 29137983
★☆☆☆☆
Found in Text Mining only
Non-alcoholic Fatty Liver Disease Non-Alcoholic Fatty Liver Disease BEFREE 28077733
★☆☆☆☆
Found in Text Mining only
Septicemia Septicemia BEFREE 31681299
★☆☆☆☆
Found in Text Mining only
Steatohepatitis Fatty Liver BEFREE 28077733
★☆☆☆☆
Found in Text Mining only