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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
9
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
ACSL6-related disorder Uncertain significance; Likely benign; Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Acute myeloid leukemia Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AMPHETAMINE OR RELATED ACTING SYMPATHOMIMETIC ABUSE Disgenet
★★☆☆☆
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
Acute Coronary Syndrome Coronary Syndrome BEFREE 29566413, 30340765
★☆☆☆☆
Found in Text Mining only
Acute Erythroblastic Leukemia Erythroblastic Leukemia BEFREE 10502316
★☆☆☆☆
Found in Text Mining only
Alzheimer`s Disease Alzheimer disease GWASCAT_DG 25778476
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 32813933 Associate
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 29973580 Associate
★☆☆☆☆
Found in Text Mining only
Congestive heart failure Congestive Heart Failure BEFREE 30340765
★☆☆☆☆
Found in Text Mining only
Degenerative polyarthritis Arthritis BEFREE 28805067
★☆☆☆☆
Found in Text Mining only
Hematologic Neoplasms Hematologic Neoplasms BEFREE 10502316
★☆☆☆☆
Found in Text Mining only
Insulin Resistance Diabetes mellitus, type 2 Pubtator 27341449 Associate
★☆☆☆☆
Found in Text Mining only
Leukemia Myeloid Acute Myeloid leukemia Pubtator 27171439 Inhibit
★☆☆☆☆
Found in Text Mining only