Gene Gene information from NCBI Gene database.
Entrez ID 2180
Gene name Acyl-CoA synthetase long chain family member 1
Gene symbol ACSL1
Synonyms (NCBI Gene)
ACS1FACL1FACL2LACSLACS1LACS2
Chromosome 4
Chromosome location 4q35.1
Summary The protein encoded by this gene is an isozyme of the long-chain fatty-acid-coenzyme A ligase family. Although differing in substrate specificity, subcellular localization, and tissue distribution, all isozymes of this family convert free long-chain fatty
miRNA miRNA information provided by mirtarbase database.
336
miRTarBase ID miRNA Experiments Reference
MIRT017213 hsa-miR-335-5p Microarray 18185580
MIRT025381 hsa-miR-34a-5p Reporter assay;Proteomics 21566225
MIRT025381 hsa-miR-34a-5p Proteomics 21566225
MIRT025381 hsa-miR-34a-5p Proteomics 21566225
MIRT025381 hsa-miR-34a-5p Proteomics 21566225
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
PPARA Repression 17150915
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
63
GO ID Ontology Definition Evidence Reference
GO:0000038 Process Very long-chain fatty acid metabolic process IBA
GO:0000038 Process Very long-chain fatty acid metabolic process IEA
GO:0000166 Function Nucleotide binding IEA
GO:0001676 Process Long-chain fatty acid metabolic process IBA
GO:0001676 Process Long-chain fatty acid metabolic process IDA 22022213, 24269233
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
152425 3569 ENSG00000151726
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P33121
Protein name Long-chain-fatty-acid--CoA ligase 1 (EC 6.2.1.3) (Acyl-CoA synthetase 1) (ACS1) (Arachidonate--CoA ligase) (EC 6.2.1.15) (Long-chain acyl-CoA synthetase 1) (LACS 1) (Long-chain acyl-CoA synthetase 2) (LACS 2) (Long-chain fatty acid-CoA ligase 2) (Palmitoy
Protein function Catalyzes the conversion of long-chain fatty acids to their active form acyl-CoAs for both synthesis of cellular lipids, and degradation via beta-oxidation (PubMed:21242590, PubMed:22633490, PubMed:24269233). Preferentially uses palmitoleate, ol
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00501 AMP-binding 96 563 AMP-binding enzyme Family
PF13193 AMP-binding_C 572 643 AMP-binding enzyme C-terminal domain Domain
Tissue specificity TISSUE SPECIFICITY: Highly expressed in liver, heart, skeletal muscle, kidney and erythroid cells, and to a lesser extent in brain, lung, placenta and pancreas. {ECO:0000269|PubMed:10548543}.
Sequence
Sequence length 698
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
25
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
Adrenocortical carcinoma, hereditary Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANOREXIA NERVOSA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ARTHRITIS, EXPERIMENTAL CTD
★★☆☆☆
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
Alzheimer Disease Alzheimer disease Pubtator 39508514 Associate
★☆☆☆☆
Found in Text Mining only
Anaphylaxis Anaphylaxis Pubtator 19476020 Associate
★☆☆☆☆
Found in Text Mining only
Anaplastic carcinoma Anaplastic Carcinoma CTD_human_DG 16316942
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 22308341, 26711138, 29104625
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis BEFREE 22308341, 26711138, 29104625
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis Pubtator 26711138 Associate
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 27171439, 28132807
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 27171439, 31581558, 33066575, 35739271, 38310106, 39362925 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Carcinoma CTD_human_DG 16316942
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 22022213, 34861383, 40500772 Associate
★☆☆☆☆
Found in Text Mining only