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

    Gene ID: 23305, updated on 27-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
    • 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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    Related articles in PubMed

    1. Acyl-CoA synthetase long-chain family member 6 is associated with premature ovarian failure. Kang H, et al. Fertil Steril, 2009 Apr. PMID 18555221
    2. Substrate Specificity of Human Long-Chain Acyl-CoA Synthetase ACSL6 Variants. Kurotaki A, et al. Biol Pharm Bull, 2021. PMID 34602568
    3. Acyl-CoA synthetase 6 regulates long-chain polyunsaturated fatty acid composition of membrane phospholipids in spermatids and supports normal spermatogenic processes in mice. Shishikura K, et al. FASEB J, 2019 Dec. PMID 31648559, Free PMC Article
    4. Activity of the acyl-CoA synthetase ACSL6 isoforms: role of the fatty acid Gate-domains. Soupene E, et al. BMC Biochem, 2010 Apr 29. PMID 20429931, Free PMC Article
    5. DNA pooling: a comprehensive, multi-stage association analysis of ACSL6 and SIRT5 polymorphisms in schizophrenia. Chowdari KV, et al. Genes Brain Behav, 2007 Apr. PMID 16827919

    See all (39) citations in PubMed

    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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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    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 variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    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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    NEW Try the new Transcript table

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous