Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
23305
Gene name Gene Name - the full gene name approved by the HGNC.
Acyl-CoA synthetase long chain family member 6
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ACSL6
Synonyms (NCBI Gene) Gene synonyms aliases
ACS2, FACL6, LACS 6, LACS2, LACS5
Chromosome Chromosome number
5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5q31.1
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
604443 16496 ENSG00000164398
Protein
UniProt ID 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
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
  Synthesis of very long-chain fatty acyl-CoAs
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Dermatitis Atopic dermatitis N/A N/A GWAS
Associations from Text Mining Disease 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