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Aliases for ACSL6 Gene

Aliases for ACSL6 Gene

  • Acyl-CoA Synthetase Long-Chain Family Member 6 2 3 5
  • Fatty-Acid-Coenzyme A Ligase, Long-Chain 6 2 3
  • EC 6.2.1.3 4 61
  • LACS 6 3 4
  • FACL6 3 4
  • LACS5 3 4
  • ACS2 3 4
  • Long-Chain-Fatty-Acid--CoA Ligase 6 3
  • Long Fatty Acyl-CoA Synthetase 2 3
  • Long-Chain Acyl-CoA Synthetase 6 4
  • KIAA0837 4
  • EC 6.2.1 61
  • LACS2 3

External Ids for ACSL6 Gene

Previous HGNC Symbols for ACSL6 Gene

  • FACL6

Previous GeneCards Identifiers for ACSL6 Gene

  • GC05M131366
  • GC05M131170
  • GC05M126481
  • GC05M131144
  • GC05M131145
  • GC05M131146
  • GC05M131147
  • GC05M131808

Summaries for ACSL6 Gene

Entrez Gene Summary for ACSL6 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 of myelodysplastic syndrome with basophilia, acute myelogenous leukemia with eosinophilia, and acute eosinophilic leukemia. Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Apr 2011]

GeneCards Summary for ACSL6 Gene

ACSL6 (Acyl-CoA Synthetase Long-Chain Family Member 6) is a Protein Coding gene. Diseases associated with ACSL6 include Myelodysplastic Syndrome and Eosinophilia. Among its related pathways are Metabolism and Peroxisome. GO annotations related to this gene include protein homodimerization activity and long-chain fatty acid-CoA ligase activity. An important paralog of this gene is ENSG00000281938.

UniProtKB/Swiss-Prot for ACSL6 Gene

  • Activation of long-chain fatty acids for both synthesis of cellular lipids, and degradation via beta-oxidation. Plays an important role in fatty acid metabolism in brain and the acyl-CoAs produced may be utilized exclusively for the synthesis of the brain lipid.

Gene Wiki entry for ACSL6 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ACSL6 Gene

Genomics for ACSL6 Gene

Regulatory Elements for ACSL6 Gene

Enhancers for ACSL6 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH05F131980 0.9 FANTOM5 13.8 +31.7 31710 0.3 MEIKIN ACSL6 ENSG00000231585 LOC101927693 ENSG00000253067 ENSG00000281938
GH05F132031 0.2 ENCODE 12.2 -20.0 -20013 1.3 CEBPB ZBTB33 CHAMP1 ACSL6 ENSG00000231585 IL3 CSF2 ENSG00000253067 LOC101927693 FNIP1 LOC107987500 P4HA2-AS1 SLC22A5
GH05F131589 1.1 Ensembl ENCODE 11.8 +422.4 422443 0.4 ELF3 CTCF PKNOX1 ARID4B DNMT3B ZNF2 RAD21 ZNF143 SMC3 ZNF654 RAPGEF6 ACSL6 LOC101927693 FNIP1 HINT1 GC05P131572
GH05F131977 0.2 Ensembl 11.7 +35.0 35043 0.4 HDGF PKNOX1 ATF1 SIN3A GLI4 DMAP1 ZNF2 SLC30A9 ZNF121 KLF7 MEIKIN ENSG00000231585 ACSL6 LOC101927693 ENSG00000253067 ENSG00000281938
GH05F131814 1.3 Ensembl ENCODE 11.4 +197.0 197018 1.1 CBX3 ATF1 TEAD4 JUN ZEB1 ZNF316 ZNF366 TRIM24 FOS KLF8 MEIKIN LOC101927693 ACSL6 ENSG00000231585 IL3 ENSG00000253067 ENSG00000279584 PIR55504
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around ACSL6 on UCSC Golden Path with GeneCards custom track

Promoters for ACSL6 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001873711 543 1001 CTCF KLF1 MAZ NRF1 SP2 REST ZBTB7A HIC1 ZFHX2 PATZ1

Genomic Location for ACSL6 Gene

Chromosome:
5
Start:
131,949,973 bp from pter
End:
132,012,243 bp from pter
Size:
62,271 bases
Orientation:
Minus strand

Genomic View for ACSL6 Gene

Genes around ACSL6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ACSL6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ACSL6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ACSL6 Gene

Proteins for ACSL6 Gene

  • Protein details for ACSL6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UKU0-ACSL6_HUMAN
    Recommended name:
    Long-chain-fatty-acid--CoA ligase 6
    Protein Accession:
    Q9UKU0
    Secondary Accessions:
    • J3KPG3
    • O94924
    • O95829
    • Q108M9
    • Q108N0
    • Q4G191
    • Q86TN7

    Protein attributes for ACSL6 Gene

    Size:
    697 amino acids
    Molecular mass:
    77752 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH26161.1; Type=Erroneous termination; Positions=72; Note=Translated as Arg.; Evidence={ECO:0000305}; Sequence=BAA74860.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for ACSL6 Gene

neXtProt entry for ACSL6 Gene

Post-translational modifications for ACSL6 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for ACSL6 Gene

Gene Families for ACSL6 Gene

Protein Domains for ACSL6 Gene

Graphical View of Domain Structure for InterPro Entry

Q9UKU0

UniProtKB/Swiss-Prot:

ACSL6_HUMAN :
  • Belongs to the ATP-dependent AMP-binding enzyme family.
Family:
  • Belongs to the ATP-dependent AMP-binding enzyme family.
genes like me logo Genes that share domains with ACSL6: view

Function for ACSL6 Gene

Molecular function for ACSL6 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
ATP + a long-chain fatty acid + CoA = AMP + diphosphate + an acyl-CoA.
UniProtKB/Swiss-Prot Function:
Activation of long-chain fatty acids for both synthesis of cellular lipids, and degradation via beta-oxidation. Plays an important role in fatty acid metabolism in brain and the acyl-CoAs produced may be utilized exclusively for the synthesis of the brain lipid.

Enzyme Numbers (IUBMB) for ACSL6 Gene

Gene Ontology (GO) - Molecular Function for ACSL6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0004467 long-chain fatty acid-CoA ligase activity TAS --
GO:0005524 ATP binding IEA --
GO:0016874 ligase activity IEA --
GO:0042803 protein homodimerization activity IDA 20429931
genes like me logo Genes that share ontologies with ACSL6: view
genes like me logo Genes that share phenotypes with ACSL6: view

Animal Model Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ACSL6 Gene

Localization for ACSL6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ACSL6 Gene

Mitochondrion outer membrane; Single-pass type III membrane protein. Peroxisome membrane; Single-pass type III membrane protein. Microsome membrane; Single-pass type III membrane protein. Endoplasmic reticulum membrane; Single-pass type III membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ACSL6 Gene COMPARTMENTS Subcellular localization image for ACSL6 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 5
peroxisome 4
mitochondrion 3

Gene Ontology (GO) - Cellular Components for ACSL6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005741 mitochondrial outer membrane IEA --
GO:0005777 peroxisome IEA --
GO:0005778 peroxisomal membrane IEA --
GO:0005783 endoplasmic reticulum IEA --
genes like me logo Genes that share ontologies with ACSL6: view

Pathways & Interactions for ACSL6 Gene

genes like me logo Genes that share pathways with ACSL6: view

Gene Ontology (GO) - Biological Process for ACSL6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001676 long-chain fatty acid metabolic process IEA --
GO:0006629 lipid metabolic process IEA --
GO:0006631 fatty acid metabolic process IEA --
GO:0006637 acyl-CoA metabolic process NAS 10548543
GO:0008152 metabolic process IEA --
genes like me logo Genes that share ontologies with ACSL6: view

No data available for SIGNOR curated interactions for ACSL6 Gene

Drugs & Compounds for ACSL6 Gene

(7) Drugs for ACSL6 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Adenosine monophosphate Approved Nutra 0
Adenosine triphosphate Approved Nutra 0
Palmitic Acid Experimental Pharma Full agonist, Agonist 22
Propionyl-CoA Experimental Pharma 0

(34) Additional Compounds for ACSL6 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(2E)-Decenoyl-CoA
  • (E)-S-2-decenoate
  • (E)-S-2-decenoate CoA
  • (E)-S-2-decenoate Coenzyme A
  • (E)-S-2-decenoic acid
  • 2-trans-Decenoyl-CoA
10018-95-8
(2E)-Dodecenoyl-CoA
  • (2E)-Dodec-2-enoyl-CoA
  • (2E)-Dodec-2-enoyl-Coenzyme A
  • 2-trans-Dodecenoyl-CoA
  • 2-trans-Dodecenoyl-Coenzyme A
1066-12-2
(2E)-Hexadecenoyl-CoA
  • (2E)-Hexadecenoyl-CoA
  • (2E)-Hexadecenoyl-Coenzyme A
  • trans-2-Hexadecenoyl-CoA
  • trans-2-Hexadecenoyl-Coenzyme A
4460-95-1
(2E)-Octenoyl-CoA
  • (E)-S-2-octenoate
  • (E)-S-2-octenoate CoA
  • (E)-S-2-octenoate Coenzyme A
  • (E)-S-2-octenoic acid
  • 2,3-trans-Octenoyl coenzyme A
10018-94-7
(2E)-Tetradecenoyl-CoA
  • (2E)-Tetradecenoyl-CoA
  • (2E)-Tetradecenoyl-Coenzyme A
  • Trans-tetra-dec-2-enoyl-CoA
  • Trans-tetra-dec-2-enoyl-CoA.
  • Trans-tetra-dec-2-enoyl-Coenzyme A
38795-33-4
genes like me logo Genes that share compounds with ACSL6: view

Transcripts for ACSL6 Gene

Unigene Clusters for ACSL6 Gene

Acyl-CoA synthetase long-chain family member 6:
Representative Sequences:

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ACSL6 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b · 12c ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21a · 21b
SP1: - -
SP2: - -
SP3: - - - - -
SP4:

Relevant External Links for ACSL6 Gene

GeneLoc Exon Structure for
ACSL6
ECgene alternative splicing isoforms for
ACSL6

Expression for ACSL6 Gene

mRNA expression in normal human tissues for ACSL6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ACSL6 Gene

This gene is overexpressed in Brain - Cerebellum (x5.5), Brain - Cerebellar Hemisphere (x5.4), Brain - Frontal Cortex (BA9) (x5.1), Brain - Anterior cingulate cortex (BA24) (x4.7), and Brain - Cortex (x4.0).

Protein differential expression in normal tissues from HIPED for ACSL6 Gene

This gene is overexpressed in Retina (25.1), Frontal cortex (20.3), and Testis (8.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ACSL6 Gene



Protein tissue co-expression partners for ACSL6 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ACSL6 Gene:

ACSL6

SOURCE GeneReport for Unigene cluster for ACSL6 Gene:

Hs.14945

mRNA Expression by UniProt/SwissProt for ACSL6 Gene:

Q9UKU0-ACSL6_HUMAN
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.
genes like me logo Genes that share expression patterns with ACSL6: view

Primer Products

Orthologs for ACSL6 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ACSL6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ACSL6 34 35
  • 97.84 (n)
dog
(Canis familiaris)
Mammalia ACSL6 34 35
  • 91.51 (n)
cow
(Bos Taurus)
Mammalia ACSL6 34 35
  • 91.15 (n)
mouse
(Mus musculus)
Mammalia Acsl6 34 16 35
  • 88.86 (n)
rat
(Rattus norvegicus)
Mammalia Acsl6 34
  • 87.42 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ACSL6 35
  • 86 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ACSL6 35
  • 85 (a)
OneToOne
chicken
(Gallus gallus)
Aves ACSL6 34 35
  • 77.38 (n)
lizard
(Anolis carolinensis)
Reptilia ACSL6 35
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia acsl6 34
  • 71.28 (n)
zebrafish
(Danio rerio)
Actinopterygii acsl6 35
  • 82 (a)
OneToOne
acsl1a 34
  • 65.85 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG3961 35
  • 48 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea acs-13 35
  • 45 (a)
ManyToMany
acs-5 35
  • 45 (a)
ManyToMany
acs-15 35
  • 33 (a)
ManyToMany
R09E10.4 35
  • 27 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes FAA2 35
  • 29 (a)
OneToMany
barley
(Hordeum vulgare)
Liliopsida Hv.10667 34
wheat
(Triticum aestivum)
Liliopsida Ta.27153 34
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 50 (a)
ManyToMany
CSA.10659 35
  • 50 (a)
ManyToMany
Species where no ortholog for ACSL6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for ACSL6 Gene

ENSEMBL:
Gene Tree for ACSL6 (if available)
TreeFam:
Gene Tree for ACSL6 (if available)

Paralogs for ACSL6 Gene

Paralogs for ACSL6 Gene

genes like me logo Genes that share paralogs with ACSL6: view

Variants for ACSL6 Gene

Sequence variations from dbSNP and Humsavar for ACSL6 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs10040809 -- 132,007,324(+) CTTCA(A/C)CTTCA intron-variant, downstream-variant-500B
rs10052554 -- 131,974,365(+) CAACT(G/T)TACTC intron-variant
rs10054987 -- 132,006,026(+) CTTCC(C/T)GCTCT intron-variant
rs10059315 -- 131,986,945(+) cacac(A/G)cacat intron-variant
rs10068865 -- 131,972,115(+) AAACA(C/T)TTTGT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ACSL6 Gene

Variant ID Type Subtype PubMed ID
esv25745 CNV gain 19812545
esv3307926 CNV mobile element insertion 20981092
esv3409875 CNV insertion 20981092
esv3415163 CNV insertion 20981092
nsv1024604 CNV gain 25217958
nsv1031854 CNV gain 25217958
nsv1131914 CNV deletion 24896259

Variation tolerance for ACSL6 Gene

Residual Variation Intolerance Score: 12.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.14; 38.90% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ACSL6 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ACSL6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ACSL6 Gene

Disorders for ACSL6 Gene

MalaCards: The human disease database

(4) MalaCards diseases for ACSL6 Gene - From: OMIM, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
myelodysplastic syndrome
  • myelodysplastic syndrome, somatic
eosinophilia
  • eosinophil count raised
chronic intestinal vascular insufficiency
  • chronic mesenteric ischemia
schizophrenia
  • schizophrenia 12
- elite association - COSMIC cancer census association via MalaCards
Search ACSL6 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ACSL6_HUMAN
  • Note=A chromosomal aberration involving ACSL6 may be a cause of acute eosinophilic leukemia (AEL). Translocation t(5;12)(q31;p13) with ETV6. {ECO:0000269 PubMed:10502316}.
  • Note=A chromosomal aberration involving ACSL6 may be a cause of acute myelogenous leukemia with eosinophilia. Translocation t(5;12)(q31;p13) with ETV6. {ECO:0000269 PubMed:10502316}.
  • Note=A chromosomal aberration involving ACSL6 may be a cause of myelodysplastic syndrome with basophilia. Translocation t(5;12)(q31;p13) with ETV6. {ECO:0000269 PubMed:10502316}.

Relevant External Links for ACSL6

Genetic Association Database (GAD)
ACSL6
Human Genome Epidemiology (HuGE) Navigator
ACSL6
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ACSL6
genes like me logo Genes that share disorders with ACSL6: view

No data available for Genatlas for ACSL6 Gene

Publications for ACSL6 Gene

  1. Fusion of TEL/ETV6 to a novel ACS2 in myelodysplastic syndrome and acute myelogenous leukemia with t(5;12)(q31;p13). (PMID: 10502316) Yagasaki F. … Hirashima K. (Genes Chromosomes Cancer 1999) 2 3 4 22 64
  2. Identification and molecular characterization of acyl-CoA synthetase in human red cells and erythroid precursor. (PMID: 10548543) Malhotra K.T. … Kuypers F.A. (Biochem. J. 1999) 2 3 4 22 64
  3. Acyl-CoA synthetase long-chain family member 6 is associated with premature ovarian failure. (PMID: 18555221) Kang H. … Kwack K. (Fertil. Steril. 2009) 3 22 46 64
  4. Multiple erythroid isoforms of human long-chain acyl-CoA synthetases are produced by switch of the fatty acid gate domains. (PMID: 16834775) Soupene E. … Kuypers F.A. (BMC Mol. Biol. 2006) 3 4 22 64
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64

Products for ACSL6 Gene

Sources for ACSL6 Gene

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