Gene Gene information from NCBI Gene database.
Entrez ID 2182
Gene name Acyl-CoA synthetase long chain family member 4
Gene symbol ACSL4
Synonyms (NCBI Gene)
ACS4FACL4LACS4MRX63MRX68XLID63
Chromosome X
Chromosome location Xq23
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
SNPs SNP information provided by dbSNP.
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SNP ID Visualize variation Clinical significance Consequence
rs122458138 G>T Pathogenic Coding sequence variant, missense variant
rs122458139 G>A Pathogenic Coding sequence variant, missense variant
rs183171123 T>C Conflicting-interpretations-of-pathogenicity, benign Intron variant
rs200451158 T>C Conflicting-interpretations-of-pathogenicity, likely-benign Missense variant, coding sequence variant
rs886042180 AT>- Pathogenic Frameshift variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
520
miRTarBase ID miRNA Experiments Reference
MIRT020060 hsa-miR-375 Microarray 20215506
MIRT025215 hsa-miR-34a-5p Proteomics 21566225
MIRT025215 hsa-miR-34a-5p Proteomics 21566225
MIRT025215 hsa-miR-34a-5p Proteomics 21566225
MIRT025215 hsa-miR-34a-5p Reporter assay;Proteomics 21566225
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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GO ID Ontology Definition Evidence Reference
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 24269233
GO:0001676 Process Long-chain fatty acid metabolic process IEA
GO:0001676 Process Long-chain fatty acid metabolic process IMP 22633490
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
300157 3571 ENSG00000068366
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O60488
Protein name Long-chain-fatty-acid--CoA ligase 4 (EC 6.2.1.3) (Arachidonate--CoA ligase) (EC 6.2.1.15) (Long-chain acyl-CoA synthetase 4) (LACS 4)
Protein function Catalyzes the conversion of long-chain fatty acids to their active form acyl-CoA for both synthesis of cellular lipids, and degradation via beta-oxidation (PubMed:21242590, PubMed:22633490, PubMed:24269233). Preferentially activates arachidonate
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00501 AMP-binding 103 578 AMP-binding enzyme Family
Sequence
Sequence length 711
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Fatty acid biosynthesis
Fatty acid degradation
Metabolic pathways
Fatty acid metabolism
PPAR signaling pathway
Peroxisome
Ferroptosis
Thermogenesis
Adipocytokine signaling pathway
  Intracellular metabolism of fatty acids regulates insulin secretion
Synthesis of very long-chain fatty acyl-CoAs
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Intellectual disability Likely pathogenic rs1603401125 RCV000850208
Intellectual disability, X-linked 63 Pathogenic; Likely pathogenic rs2147437405, rs2147391497, rs2521078665, rs2521231477, rs122458138, rs1569423317, rs122458139, rs1924147806 RCV002210940
RCV002255236
RCV002290221
RCV002291087
RCV000012320
RCV000012321
RCV000012322
RCV001251654
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
ACSL4-related disorder Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign rs766630384, rs200451158, rs148996116, rs1479216378, rs140779266, rs1934534098, rs193072191, rs756576461 RCV003407807
RCV003947471
RCV003410139
RCV003898972
RCV003914123
RCV003927155
RCV003932804
RCV003953615
Autism spectrum disorder Uncertain significance rs374685754 RCV003125891
Cervical cancer Benign rs184411309 RCV005918517
Cholangiocarcinoma Benign rs184411309 RCV005918518
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Acute Kidney Injury Associate 35569444
Adrenocortical Carcinoma Associate 35500219
Arthritis Rheumatoid Associate 26147000
Atherosclerosis Associate 39742023
Brain Injuries Associate 29638160
Breast Neoplasms Associate 21085606, 27171439, 29450800, 31311992, 34482070, 38078907, 39862136, 40612672
Carcinogenesis Associate 15849811, 32357142
Carcinoma Hepatocellular Associate 12824919, 15849811, 28887439, 30138348, 32357142, 32859232, 35603967, 40500772
Carcinoma Non Small Cell Lung Associate 33730930, 36482742
Carcinoma Non Small Cell Lung Inhibit 36060648