Gene Gene information from NCBI Gene database.
Entrez ID 79611
Gene name Acyl-CoA synthetase short chain family member 3
Gene symbol ACSS3
Synonyms (NCBI Gene)
-
Chromosome 12
Chromosome location 12q21.31
miRNA miRNA information provided by mirtarbase database.
131
miRTarBase ID miRNA Experiments Reference
MIRT017832 hsa-miR-335-5p Microarray 18185580
MIRT539516 hsa-miR-130a-5p PAR-CLIP 22012620
MIRT539515 hsa-miR-23b-3p PAR-CLIP 22012620
MIRT539514 hsa-miR-23a-3p PAR-CLIP 22012620
MIRT539513 hsa-miR-23c PAR-CLIP 22012620
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
21
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0003987 Function Acetate-CoA ligase activity IEA
GO:0003987 Function Acetate-CoA ligase activity ISS
GO:0003987 Function Acetate-CoA ligase activity TAS
GO:0005515 Function Protein binding IPI 32814053
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
614356 24723 ENSG00000111058
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9H6R3
Protein name Acyl-CoA synthetase short-chain family member 3, mitochondrial (EC 6.2.1.1) (Acetate--CoA ligase 3) (Acyl-CoA synthetase short-chain family member 3) (Propionate--CoA ligase) (EC 6.2.1.17)
Protein function Catalyzes the synthesis of acetyl-CoA from short-chain fatty acids (PubMed:28003429). Propionate is the preferred substrate (PubMed:28003429). Can utilize acetate and butyrate with a much lower affinity (By similarity). {ECO:0000250|UniProtKB:A0
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF16177 ACAS_N 62 116 Acetyl-coenzyme A synthetase N-terminus Family
PF00501 AMP-binding 117 562 AMP-binding enzyme Family
PF13193 AMP-binding_C 570 649 AMP-binding enzyme C-terminal domain Domain
Sequence
Sequence length 686
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Propanoate metabolism
Metabolic pathways
  Synthesis of Ketone Bodies
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
7
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
COLOR VISION DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DENTAL CARIES GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER GWAS catalog
★★☆☆☆
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 30482855 Associate
★☆☆☆☆
Found in Text Mining only
Conn Adenoma Conn Adenoma BEFREE 27777363
★☆☆☆☆
Found in Text Mining only
Depressive Disorder Major depressive disorder Pubtator 30718454 Associate
★☆☆☆☆
Found in Text Mining only
Hyperaldosteronism Hyperaldosteronism Pubtator 27777363 Associate
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of stomach Stomach Neoplasms BEFREE 29493120
★☆☆☆☆
Found in Text Mining only
Malignant Neoplasms Malignant Neoplasm BEFREE 29493120
★☆☆☆☆
Found in Text Mining only
Melanoma Melanoma Pubtator 33383577 Associate
★☆☆☆☆
Found in Text Mining only
Neoplasms Neoplasms BEFREE 29493120
★☆☆☆☆
Found in Text Mining only
Neuroblastoma Neuroblastoma Pubtator 23034519 Associate
★☆☆☆☆
Found in Text Mining only
Ovarian Diseases Ovarian diseases Pubtator 39754905 Associate
★☆☆☆☆
Found in Text Mining only