Gene Gene information from NCBI Gene database.
Entrez ID 23305
Gene name Acyl-CoA synthetase long chain family member 6
Gene symbol ACSL6
Synonyms (NCBI Gene)
ACS2FACL6LACS 6LACS2LACS5
Chromosome 5
Chromosome location 5q31.1
Summary The protein encoded by this gene catalyzes the formation of acyl-CoA from fatty acids, ATP, and CoA, using magnesium as a cofactor. The encoded protein plays a major role in fatty acid metabolism in the brain. Translocations with the ETV6 gene are causes
miRNA miRNA information provided by mirtarbase database.
271
miRTarBase ID miRNA Experiments Reference
MIRT025504 hsa-miR-34a-5p Proteomics 21566225
MIRT669636 hsa-miR-6890-3p HITS-CLIP 23824327
MIRT669635 hsa-miR-6840-3p HITS-CLIP 23824327
MIRT669634 hsa-miR-1915-3p HITS-CLIP 23824327
MIRT669633 hsa-miR-6764-5p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
37
GO ID Ontology Definition Evidence Reference
GO:0000038 Process Very long-chain fatty acid metabolic process IBA
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 20429931, 24269233
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
604443 16496 ENSG00000164398
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UKU0
Protein name Long-chain-fatty-acid--CoA ligase 6 (EC 6.2.1.3) (Arachidonate--CoA ligase) (EC 6.2.1.15) (Long-chain acyl-CoA synthetase 6) (LACS 6)
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:22633490, PubMed:24269233). Plays an important role in fatty acid metabolism in br
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00501 AMP-binding 103 563 AMP-binding enzyme Family
PF13193 AMP-binding_C 572 661 AMP-binding enzyme C-terminal domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed predominantly in erythrocyte precursors, in particular in reticulocytes, fetal blood cells derived from fetal liver, hemopoietic stem cells from cord blood, bone marrow and brain. {ECO:0000269|PubMed:10548543}.
Sequence
Sequence length 697
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
12
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
ACSL6-related disorder Uncertain significance; Likely benign; Benign rs115302912, rs3763118, rs11740791, rs143653785, rs73264077, rs145839757, rs140341663, rs200587334, rs77931625 RCV003963241
RCV003921893
RCV003974618
RCV003909550
RCV003931670
RCV003926847
RCV003954378
RCV003962314
RCV003968986
Acute myeloid leukemia Benign rs150654858 RCV005905883
Malignant lymphoma, large B-cell, diffuse Benign rs11740791 RCV005937158
Ovarian serous cystadenocarcinoma Benign rs150654858 RCV005905884
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Carcinoma Hepatocellular Associate 32813933
Colorectal Neoplasms Associate 29973580
Insulin Resistance Associate 27341449
Leukemia Myeloid Acute Inhibit 27171439
Myelodysplastic Myeloproliferative Diseases Associate 32723365
Myopathy with Giant Abnormal Mitochondria Stimulate 28805067
Neoplasms Inhibit 22436383
Neoplasms Associate 32723365
Osteoarthritis Associate 28805067
Pdgfra Associated Chronic Eosinophilic Leukemia Associate 32723365