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ACSL6 acyl-CoA synthetase long chain family member 6 [ Homo sapiens (human) ]

Gene ID: 23305, updated on 2-Nov-2024

Summary

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Official Symbol
ACSL6provided by HGNC
Official Full Name
acyl-CoA synthetase long chain family member 6provided by HGNC
Primary source
HGNC:HGNC:16496
See related
Ensembl:ENSG00000164398 MIM:604443; AllianceGenome:HGNC:16496
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ACS2; FACL6; LACS2; LACS5; LACS 6
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 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]
Annotation information
Note: This gene has been reviewed for its involvement in coronavirus biology, and is locus in the vicinity of disease-associated variant(s).
Expression
Biased expression in brain (RPKM 19.2), testis (RPKM 8.4) and 5 other tissues See more
Orthologs
mouse all
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Genomic context

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See ACSL6 in Genome Data Viewer
Location:
5q31.1
Exon count:
30
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (131949973..132012213, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (132469856..132532085, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (131285666..131347906, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene folliculin interacting protein 1 Neighboring gene ACTB pseudogene 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23059 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16308 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16309 Neighboring gene meiotic kinetochore factor Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:131267911-131268464 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:131293433-131293633 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:131329699-131330242 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:131330787-131331330 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:131337447-131338042 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16310 Neighboring gene uncharacterized LOC124901062 Neighboring gene ACSL6 antisense RNA 1 Neighboring gene MPRA-validated peak5463 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16311 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:131366011-131366190 Neighboring gene uncharacterized LOC105379174 Neighboring gene enhancer-blocking elements downstream of IL3 Neighboring gene interleukin 3 Neighboring gene colony stimulating factor 2

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. ACSL6-activated IL-18R1-NF-kappaB promotes IL-18-mediated tumor immune evasion and tumor progression.
    Title: ACSL6-activated IL-18R1-NF-κB promotes IL-18-mediated tumor immune evasion and tumor progression.
  2. ETV6::ACSL6 translocation-driven super-enhancer activation leads to eosinophilia in acute lymphoblastic leukemia through IL-3 overexpression.
    Title: ETV6::ACSL6 translocation-driven super-enhancer activation leads to eosinophilia in acute lymphoblastic leukemia through IL-3 overexpression.
  3. Substrate Specificity of Human Long-Chain Acyl-CoA Synthetase ACSL6 Variants.
    Title: Substrate Specificity of Human Long-Chain Acyl-CoA Synthetase ACSL6 Variants.
  4. The results of this study indicate that ACSL6 contributes to the local accumulation of docosahexaenoic acid and docosapentaenoic acid containing phospholipids in spermatids to support normal spermatogenesis
    Title: Acyl-CoA synthetase 6 regulates long-chain polyunsaturated fatty acid composition of membrane phospholipids in spermatids and supports normal spermatogenic processes in mice.
  5. ACSL6 drives acyl-CoA toward lipid synthesis and its downregulation improves mitochondrial biogenesis, respiratory capacity and lipid oxidation
    Title: Long-chain acyl-CoA synthetase 6 regulates lipid synthesis and mitochondrial oxidative capacity in human and rat skeletal muscle.
  6. variations in the ACSL6 gene may contribute to the quantity of cigarettes smoked
    Title: ACSL6 is associated with the number of cigarettes smoked and its expression is altered by chronic nicotine exposure.
  7. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
  8. The alternative fatty acid Gate-domain motifs are essential determinants for the activity of the human ACSL6 isoforms, which appear to act as homodimeric enzyme as well as in complex with other spliced forms.
    Title: Activity of the acyl-CoA synthetase ACSL6 isoforms: role of the fatty acid Gate-domains.
  9. The acyl-coenzyme A synthetase long-chain family member 6 (ACSL6) gene on chromosome 5q31 was associated with premature ovarian failure and identified disease-susceptibility haplotypes.
    Title: Acyl-CoA synthetase long-chain family member 6 is associated with premature ovarian failure.
  10. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
    Title: Acyl-CoA synthetase long-chain family member 6 is associated with premature ovarian failure.
Submit: New GeneRIF Correction See all GeneRIFs (18)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci.
EBI GWAS Catalog
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
EBI GWAS Catalog

Variation

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See Variation Viewer (GRCh37.p13)

HIV-1 interactions

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Replication interactions

Interaction Pubs
Knockdown of acyl-CoA synthetase long-chain family member 6 (ACSL6) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Potential readthrough

Included gene: MEIKIN

Homology

Clone Names

  • FLJ16173, KIAA0837, DKFZp547D104

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
  
enables arachidonate-CoA ligase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables arachidonate-CoA ligase activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables enzyme binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables long-chain fatty acid-CoA ligase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables long-chain fatty acid-CoA ligase activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables long-chain fatty acid-CoA ligase activity NAS
Non-traceable Author Statement
more info
 PubMed 
enables long-chain fatty acid-CoA ligase activity TAS
Traceable Author Statement
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein homodimerization activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in acyl-CoA metabolic process NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in long-chain fatty acid metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in long-chain fatty acid metabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in long-chain fatty acid metabolic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in long-chain fatty-acyl-CoA biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in long-chain fatty-acyl-CoA biosynthetic process TAS
Traceable Author Statement
more info
  
involved_in neuroblast proliferation IEA
Inferred from Electronic Annotation
more info
  
involved_in very long-chain fatty acid metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
is_active_in endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 PubMed 
located_in endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
  
is_active_in membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in mitochondrial outer membrane IEA
Inferred from Electronic Annotation
more info
  
located_in peroxisomal membrane IEA
Inferred from Electronic Annotation
more info
  
located_in plasma membrane NAS
Non-traceable Author Statement
more info
 PubMed 

General protein information

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Preferred Names
long-chain-fatty-acid--CoA ligase 6
Names
arachidonate--CoA ligase
fatty-acid-Coenzyme A ligase, long-chain 6
long fatty acyl-CoA synthetase 2
NP_001009185.1
NP_001192176.1
NP_001192177.1
NP_001192179.1
NP_001192180.1
NP_001392404.1
NP_001392405.1
NP_001392406.1
NP_001392407.1
NP_001392408.1
NP_001392409.1
NP_001392410.1
NP_001392411.1
NP_001392412.1
NP_001392413.1
NP_001392414.1
NP_001392415.1
NP_001392416.1
NP_001392417.1
NP_001392418.1
NP_001392419.1
NP_056071.2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_028290.2 RefSeqGene

    Range
    5411..67096
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001009185.3 → NP_001009185.1  long-chain-fatty-acid--CoA ligase 6 isoform b

    See identical proteins and their annotated locations for NP_001009185.1

    Status: REVIEWED

    Source sequence(s)
    AB020644, AC034228, BM992189, DA200154
    Consensus CDS
    CCDS34229.1
    UniProtKB/TrEMBL
    B2RB13
    Related
    ENSP00000499063.2, ENST00000651883.2
    Conserved Domains (2) summary
    PLN02736
    Location:97 → 719
    PLN02736; long-chain acyl-CoA synthetase
    cd05927
    Location:141 → 718
    LC-FACS_euk; Eukaryotic long-chain fatty acid CoA synthetase (LC-FACS)

  2. NM_001205247.2 → NP_001192176.1  long-chain-fatty-acid--CoA ligase 6 isoform c

    Status: REVIEWED

    Source sequence(s)
    AB020644, AC034228, AK294291, BM992189, DA200154
    UniProtKB/TrEMBL
    B4DFW3
    Conserved Domains (2) summary
    PLN02736
    Location:62 → 684
    PLN02736; long-chain acyl-CoA synthetase
    cd05927
    Location:106 → 683
    LC-FACS_euk; Eukaryotic long-chain fatty acid CoA synthetase (LC-FACS)

  3. NM_001205248.2 → NP_001192177.1  long-chain-fatty-acid--CoA ligase 6 isoform d

    See identical proteins and their annotated locations for NP_001192177.1

    Status: REVIEWED

    Source sequence(s)
    AB020644, AC034228, AK314452, BI464352, BM992189
    Consensus CDS
    CCDS56381.1
    UniProtKB/TrEMBL
    B2RB13
    Conserved Domains (2) summary
    PLN02736
    Location:72 → 694
    PLN02736; long-chain acyl-CoA synthetase
    cd05927
    Location:116 → 693
    LC-FACS_euk; Eukaryotic long-chain fatty acid CoA synthetase (LC-FACS)

  4. NM_001205250.1 → NP_001192179.1  long-chain-fatty-acid--CoA ligase 6 isoform e

    Status: REVIEWED

    Source sequence(s)
    AB020644, AC034228, BM992189, DA801862
    Consensus CDS
    CCDS56383.1
    UniProtKB/TrEMBL
    B2RB13
    Related
    ENSP00000368548.1, ENST00000379246.5
    Conserved Domains (2) summary
    PLN02736
    Location:83 → 705
    PLN02736; long-chain acyl-CoA synthetase
    cd05927
    Location:127 → 704
    LC-FACS_euk; Eukaryotic long-chain fatty acid CoA synthetase (LC-FACS)

  5. NM_001205251.2 → NP_001192180.1  long-chain-fatty-acid--CoA ligase 6 isoform f

    Status: REVIEWED

    Source sequence(s)
    AC034228, AK314452, BC047453, BI464352, BM992189
    Consensus CDS
    CCDS56382.1
    UniProtKB/TrEMBL
    E7ERD7
    Related
    ENSP00000349608.1, ENST00000357096.5
    Conserved Domains (2) summary
    PLN02736
    Location:37 → 619
    PLN02736; long-chain acyl-CoA synthetase
    cd05927
    Location:81 → 618
    LC-FACS_euk; Eukaryotic long-chain fatty acid CoA synthetase (LC-FACS)

  6. NM_001405475.1 → NP_001392404.1  long-chain-fatty-acid--CoA ligase 6 isoform g

    Status: REVIEWED

    Source sequence(s)
    AC034228
    UniProtKB/TrEMBL
    A0A494C0B6
    Related
    ENSP00000498444.1, ENST00000650697.1

  7. NM_001405476.1 → NP_001392405.1  long-chain-fatty-acid--CoA ligase 6 isoform h

    Status: REVIEWED

    Source sequence(s)
    AC034228

  8. NM_001405477.1 → NP_001392406.1  long-chain-fatty-acid--CoA ligase 6 isoform i

    Status: REVIEWED

    Source sequence(s)
    AC034228
    UniProtKB/TrEMBL
    A0A499FJL5
    Related
    ENSP00000296869.5, ENST00000296869.9

  9. NM_001405478.1 → NP_001392407.1  long-chain-fatty-acid--CoA ligase 6 isoform j

    Status: REVIEWED

    Source sequence(s)
    AC034228

  10. NM_001405479.1 → NP_001392408.1  long-chain-fatty-acid--CoA ligase 6 isoform k

    Status: REVIEWED

    Source sequence(s)
    AC034228
    UniProtKB/Swiss-Prot
    J3KPG3, O94924, O95829, Q108M9, Q108N0, Q4G191, Q86TN7, Q9UKU0

  11. NM_001405480.1 → NP_001392409.1  long-chain-fatty-acid--CoA ligase 6 isoform k

    Status: REVIEWED

    Source sequence(s)
    AC034228
    UniProtKB/Swiss-Prot
    J3KPG3, O94924, O95829, Q108M9, Q108N0, Q4G191, Q86TN7, Q9UKU0
    Related
    ENSP00000442124.2, ENST00000543479.5

  12. NM_001405481.1 → NP_001392410.1  long-chain-fatty-acid--CoA ligase 6 isoform d

    Status: REVIEWED

    Source sequence(s)
    AC034228
    Related
    ENSP00000368546.1, ENST00000379244.5

  13. NM_001405482.1 → NP_001392411.1  long-chain-fatty-acid--CoA ligase 6 isoform k

    Status: REVIEWED

    Source sequence(s)
    AC034228
    UniProtKB/Swiss-Prot
    J3KPG3, O94924, O95829, Q108M9, Q108N0, Q4G191, Q86TN7, Q9UKU0

  14. NM_001405483.1 → NP_001392412.1  long-chain-fatty-acid--CoA ligase 6 isoform k

    Status: REVIEWED

    Source sequence(s)
    AC034228
    UniProtKB/Swiss-Prot
    J3KPG3, O94924, O95829, Q108M9, Q108N0, Q4G191, Q86TN7, Q9UKU0
    Related
    ENSP00000368542.1, ENST00000379240.5

  15. NM_001405484.1 → NP_001392413.1  long-chain-fatty-acid--CoA ligase 6 isoform d

    Status: REVIEWED

    Source sequence(s)
    AC034228

  16. NM_001405485.1 → NP_001392414.1  long-chain-fatty-acid--CoA ligase 6 isoform l

    Status: REVIEWED

    Source sequence(s)
    AC034228
    UniProtKB/TrEMBL
    C9J8C7
    Related
    ENSP00000397507.2, ENST00000434099.6

  17. NM_001405486.1 → NP_001392415.1  long-chain-fatty-acid--CoA ligase 6 isoform m

    Status: REVIEWED

    Source sequence(s)
    AC034228
    UniProtKB/TrEMBL
    A0A494C0J9
    Related
    ENSP00000498588.1, ENST00000651250.1

  18. NM_001405487.1 → NP_001392416.1  long-chain-fatty-acid--CoA ligase 6 isoform n

    Status: REVIEWED

    Source sequence(s)
    AC034228

  19. NM_001405488.1 → NP_001392417.1  long-chain-fatty-acid--CoA ligase 6 isoform n

    Status: REVIEWED

    Source sequence(s)
    AC034228
    Related
    ENSP00000413329.1, ENST00000431707.5

  20. NM_001405489.1 → NP_001392418.1  long-chain-fatty-acid--CoA ligase 6 isoform o

    Status: REVIEWED

    Source sequence(s)
    AC034228
    UniProtKB/TrEMBL
    A0A494BZW8
    Related
    ENSP00000498263.1, ENST00000651427.1

  21. NM_001405490.1 → NP_001392419.1  long-chain-fatty-acid--CoA ligase 6 isoform f

    Status: REVIEWED

    Source sequence(s)
    AC034228
    Related
    ENSP00000368557.1, ENST00000379255.5

  22. NM_015256.4 → NP_056071.2  long-chain-fatty-acid--CoA ligase 6 isoform a

    Status: REVIEWED

    Source sequence(s)
    AB020644, AC034228, AK294291, BM992189, DA200154
    Consensus CDS
    CCDS34228.1
    UniProtKB/TrEMBL
    B2RB13
    Related
    ENSP00000498260.1, ENST00000651356.1
    Conserved Domains (2) summary
    PLN02736
    Location:97 → 719
    PLN02736; long-chain acyl-CoA synthetase
    cd05927
    Location:141 → 718
    LC-FACS_euk; Eukaryotic long-chain fatty acid CoA synthetase (LC-FACS)

RNA

  1. NR_175945.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC034228

  2. NR_175946.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC034228

  3. NR_175947.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC034228

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    131949973..132012213 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    132469856..132532085 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9UKU0.4 GenPept UniProtKB/Swiss-Prot:Q9UKU0

Gene LinkOut

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