Gene Gene information from NCBI Gene database.
Entrez ID 84532
Gene name Acyl-CoA synthetase short chain family member 1
Gene symbol ACSS1
Synonyms (NCBI Gene)
ACAS2LACECS1AceCS2L
Chromosome 20
Chromosome location 20p11.21
Summary This gene encodes a mitochondrial acetyl-CoA synthetase enzyme. A similar protein in mice plays an important role in the tricarboxylic acid cycle by catalyzing the conversion of acetate to acetyl CoA. Alternatively spliced transcript variants encoding mul
miRNA miRNA information provided by mirtarbase database.
165
miRTarBase ID miRNA Experiments Reference
MIRT025533 hsa-miR-34a-5p Proteomics 21566225
MIRT025533 hsa-miR-34a-5p Proteomics 21566225
MIRT050224 hsa-miR-25-3p CLASH 23622248
MIRT046084 hsa-miR-125b-5p CLASH 23622248
MIRT045786 hsa-miR-191-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
27
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0003987 Function Acetate-CoA ligase activity EXP 16788062
GO:0003987 Function Acetate-CoA ligase activity IBA
GO:0003987 Function Acetate-CoA ligase activity IDA 16788062
GO:0003987 Function Acetate-CoA ligase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
614355 16091 ENSG00000154930
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NUB1
Protein name Acetyl-coenzyme A synthetase 2-like, mitochondrial (EC 6.2.1.1) (Acetate--CoA ligase 2) (Acetyl-CoA synthetase 2) (AceCS2) (Acyl-CoA synthetase short-chain family member 1) (Propionate--CoA ligase) (EC 6.2.1.17)
Protein function Catalyzes the synthesis of acetyl-CoA from short-chain fatty acids (PubMed:16788062). Acetate is the preferred substrate (PubMed:16788062). Can also utilize propionate with a much lower affinity (By similarity). Provides acetyl-CoA that is utili
PDB 3GLR , 3GLT , 3GLU , 4BVE , 4BVF , 4BVG , 4C78 , 5Y4H , 5YTK
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF16177 ACAS_N 58 114 Acetyl-coenzyme A synthetase N-terminus Family
PF00501 AMP-binding 115 556 AMP-binding enzyme Family
PF13193 AMP-binding_C 564 642 AMP-binding enzyme C-terminal domain Domain
Sequence
Sequence length 689
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Glycolysis / Gluconeogenesis
Pyruvate metabolism
Glyoxylate and dicarboxylate metabolism
Propanoate metabolism
Metabolic pathways
Carbon metabolism
  Ethanol oxidation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Bladder Neoplasm Bladder Neoplasm BEFREE 29568353
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 33667222 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 27357947, 27363021 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma of bladder Bladder carcinoma BEFREE 29568353
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 27713423
★☆☆☆☆
Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma Renal Carcinoma BEFREE 29503142
★☆☆☆☆
Found in Text Mining only
Liver carcinoma Liver carcinoma BEFREE 26655911
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of urinary bladder Urinary bladder cancer BEFREE 29568353
★☆☆☆☆
Found in Text Mining only
Malignant Neoplasms Malignant Neoplasm BEFREE 26655911, 27713423
★☆☆☆☆
Found in Text Mining only
melanoma Melanoma BEFREE 27539851
★☆☆☆☆
Found in Text Mining only