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    ACSL5 acyl-CoA synthetase long chain family member 5 [ Homo sapiens (human) ]

    Gene ID: 51703, updated on 2-Nov-2024

    Summary

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    Official Symbol
    ACSL5provided by HGNC
    Official Full Name
    acyl-CoA synthetase long chain family member 5provided by HGNC
    Primary source
    HGNC:HGNC:16526
    See related
    Ensembl:ENSG00000197142 MIM:605677; AllianceGenome:HGNC:16526
    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; ACS5; FACL5; DIAR13
    Summary
    The protein encoded by this gene is an isozyme of the long-chain fatty-acid-coenzyme A ligase family. Although differing in substrate specificity, subcellular localization, and tissue distribution, all isozymes of this family convert free long-chain fatty acids into fatty acyl-CoA esters, and thereby play a key role in lipid biosynthesis and fatty acid degradation. This isozyme is highly expressed in uterus and spleen, and in trace amounts in normal brain, but has markedly increased levels in malignant gliomas. This gene functions in mediating fatty acid-induced glioma cell growth. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in small intestine (RPKM 203.8), duodenum (RPKM 170.4) and 10 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ACSL5 in Genome Data Viewer
    Location:
    10q25.2
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (112374116..112428376)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (113265142..113319056)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (114133874..114188134)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 2531 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2832 Neighboring gene microRNA 6715b Neighboring gene microRNA 6715a Neighboring gene tectorin beta Neighboring gene guanylate cyclase 2G, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:114135606-114136106 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:114136107-114136607 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2833 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2834 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4065 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4066 Neighboring gene Sharpr-MPRA regulatory region 13267 Neighboring gene zinc finger DHHC-type palmitoyltransferase 6 Neighboring gene vesicle transport through interaction with t-SNAREs 1A Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4067 Neighboring gene uncharacterized LOC124902503 Neighboring gene microRNA 4295 Neighboring gene Sharpr-MPRA regulatory region 921 Neighboring gene Sharpr-MPRA regulatory region 3692 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr10:114492107-114492608 Neighboring gene Sharpr-MPRA regulatory region 7283 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:114563987-114564486 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:114570610-114571310 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:114571311-114572009 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:114572010-114572709 Neighboring gene uncharacterized LOC103344931

    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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    Related articles in PubMed

    1. ACSL5 genotype influence on fatty acid metabolism: a cellular, tissue, and whole-body study. Rajkumar A, et al. Metabolism, 2018 Jun. PMID 29605434
    2. Lipid-induced up-regulation of human acyl-CoA synthetase 5 promotes hepatocellular apoptosis. Reinartz A, et al. Biochim Biophys Acta, 2010 Sep. PMID 20470896
    3. Functional characterization of a promoter polymorphism that drives ACSL5 gene expression in skeletal muscle and associates with diet-induced weight loss. Teng AC, et al. FASEB J, 2009 Jun. PMID 19218499, Free PMC Article
    4. Promotion of glioma cell survival by acyl-CoA synthetase 5 under extracellular acidosis conditions. Mashima T, et al. Oncogene, 2009 Jan 8. PMID 18806831
    5. High ACSL5 transcript levels associate with systemic lupus erythematosus and apoptosis in Jurkat T lymphocytes and peripheral blood cells. Catalá-Rabasa A, et al. PLoS One, 2011. PMID 22163040, Free PMC Article

    See all (68) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. ACSL5, a prognostic factor in acute myeloid leukemia, modulates the activity of Wnt/beta-catenin signaling by palmitoylation modification.
      Title: ACSL5, a prognostic factor in acute myeloid leukemia, modulates the activity of Wnt/β-catenin signaling by palmitoylation modification.
    2. More than just a histone deacetylase: cytoplasmic SIRT6 facilitates fatty acid oxidation through ACSL5 deacetylation.
      Title: More than just a histone deacetylase: cytoplasmic SIRT6 facilitates fatty acid oxidation through ACSL5 deacetylation.
    3. Hypoxia-responsive PPARGC1A/BAMBI/ACSL5 axis promotes progression and resistance to lenvatinib in hepatocellular carcinoma.
      Title: Hypoxia-responsive PPARGC1A/BAMBI/ACSL5 axis promotes progression and resistance to lenvatinib in hepatocellular carcinoma.
    4. Lysophosphatidylcholine inhibits lung cancer cell proliferation by regulating fatty acid metabolism enzyme long-chain acyl-coenzyme A synthase 5.
      Title: Lysophosphatidylcholine inhibits lung cancer cell proliferation by regulating fatty acid metabolism enzyme long-chain acyl-coenzyme A synthase 5.
    5. The gene variant rs2419621 of ACYL-CoA synthetase long-chain 5 gene is associated with weight loss and metabolic changes in response to a robotic sleeve gastrectomy in morbid obese subjects.
      Title: The gene variant rs2419621 of ACYL-CoA synthetase long-chain 5 gene is associated with weight loss and metabolic changes in response to a robotic sleeve gastrectomy in morbid obese subjects.
    6. Roles of acyl-CoA synthetase long-chain family member 5 and colony stimulating factor 2 in inhibition of palmitic or stearic acids in lung cancer cell proliferation and metabolism.
      Title: Roles of acyl-CoA synthetase long-chain family member 5 and colony stimulating factor 2 in inhibition of palmitic or stearic acids in lung cancer cell proliferation and metabolism.
    7. Deficiency of acyl-CoA synthetase 5 is associated with a severe and treatable failure to thrive of neonatal onset.
      Title: Deficiency of acyl-CoA synthetase 5 is associated with a severe and treatable failure to thrive of neonatal onset.
    8. ACYL-CoA synthetase long-chain 5 polymorphism is associated with weight loss and metabolic changes in response to a partial meal-replacement hypocaloric diet.", trans "El polimorfismo de la ACYL-CoA-sintetasa de cadena larga 5 se asocia a perdida de peso y cambios metabolicos en respuesta a una dieta hipocalorica parcial de reemplazo.
      Title: ACYL-CoA synthetase long-chain 5 polymorphism is associated with weight loss and metabolic changes in response to a partial meal-replacement hypocaloric diet.
    9. A multi-ethnic meta-analysis identifies novel genes, including ACSL5, associated with amyotrophic lateral sclerosis.
      Title: A multi-ethnic meta-analysis identifies novel genes, including ACSL5, associated with amyotrophic lateral sclerosis.
    10. ONECUT2 upregulation is associated with CpG hypomethylation at promoter-proximal DNA in gastric cancer and triggers ACSL5.
      Title: ONECUT2 upregulation is associated with CpG hypomethylation at promoter-proximal DNA in gastric cancer and triggers ACSL5.
    Submit: New GeneRIF Correction See all GeneRIFs (38)

    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

    Associated conditions

    Description Tests
    Diarrhea 13
    MedGen: C5830477 OMIM: 620357 GeneReviews: Not available
    		not available

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    capsid gag Depletion of the ACSL5 expression upregulates HIV-1 CA A92E mutant infectivity in CsA-untreated HeLa cells and downregulates its infectivity in CsA-treated HeLa 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

    Homology

    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 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 TAS
    Traceable Author Statement
    more info
    		  
    enables oleoyl-CoA ligase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    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 positive regulation of long-chain fatty acid import across plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of extrinsic apoptotic signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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
    		  
    located_in membrane HDA PubMed 
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrial outer membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    long-chain-fatty-acid--CoA ligase 5
    Names
    FACL5 for fatty acid coenzyme A ligase 5
    LACS 5
    arachidonate--CoA ligase
    fatty acid coenzyme A ligase 5
    fatty-acid-Coenzyme A ligase, long-chain 5
    long-chain acyl-CoA synthetase 5
    long-chain fatty acid coenzyme A ligase 5
    NP_001373966.1
    NP_057318.2
    NP_976313.1
    NP_976314.1

    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.

    mRNA and Protein(s)

    1. NM_001387037.1 → NP_001373966.1  long-chain-fatty-acid--CoA ligase 5 isoform c

      Status: REVIEWED

      Source sequence(s)
      AL157786
      Consensus CDS
      CCDS91344.1
      UniProtKB/TrEMBL
      A0A8C8KCK5, A0A8C8L3F5
      Related
      ENSP00000403647.2, ENST00000433418.6
      Conserved Domains (1) summary
      cd05927
      Location:157 → 710
      LC-FACS_euk; Eukaryotic long-chain fatty acid CoA synthetase (LC-FACS)

    2. NM_016234.4 → NP_057318.2  long-chain-fatty-acid--CoA ligase 5 isoform a

      See identical proteins and their annotated locations for NP_057318.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (a).
      Source sequence(s)
      AK024932, AL708480, AY358520
      Consensus CDS
      CCDS7572.1
      UniProtKB/TrEMBL
      A0A8C8KCK5
      Related
      ENSP00000348429.1, ENST00000356116.6
      Conserved Domains (2) summary
      PLN02736
      Location:127 → 737
      PLN02736; long-chain acyl-CoA synthetase
      cd05927
      Location:157 → 734
      LC-FACS_euk; Eukaryotic long-chain fatty acid CoA synthetase (LC-FACS)

    3. NM_203379.2 → NP_976313.1  long-chain-fatty-acid--CoA ligase 5 isoform b

      See identical proteins and their annotated locations for NP_976313.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and coding region compared to variant 1. This results in translation initiation from a downstream ATG and an isoform (b) that has a shorter N-terminus compared to isoform a. Both variants 2 and 3 encode isoform b.
      Source sequence(s)
      AK000339, AK024932, AL157786, AY358520, CF595490
      Consensus CDS
      CCDS7573.1
      UniProtKB/Swiss-Prot
      A6GV77, D3DRB3, Q6UX44, Q9UIU4, Q9ULC5
      UniProtKB/TrEMBL
      A0A8C8KCK5
      Related
      ENSP00000346680.4, ENST00000354655.9
      Conserved Domains (1) summary
      cd05927
      Location:101 → 678
      LC-FACS_euk; Eukaryotic long-chain fatty acid CoA synthetase (LC-FACS)

    4. NM_203380.2 → NP_976314.1  long-chain-fatty-acid--CoA ligase 5 isoform b

      See identical proteins and their annotated locations for NP_976314.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and coding region compared to variant 1. This results in translation initiation from a downstream ATG and an isoform (b) that has a shorter N-terminus compared to isoform a. Both variants 2 and 3 encode isoform b.
      Source sequence(s)
      AK024932, AL708480, AY358520, CD689921
      Consensus CDS
      CCDS7573.1
      UniProtKB/Swiss-Prot
      A6GV77, D3DRB3, Q6UX44, Q9UIU4, Q9ULC5
      UniProtKB/TrEMBL
      A0A8C8KCK5
      Related
      ENSP00000376796.1, ENST00000393081.6
      Conserved Domains (1) summary
      cd05927
      Location:101 → 678
      LC-FACS_euk; Eukaryotic long-chain fatty acid CoA synthetase (LC-FACS)

    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_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      112374116..112428376
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      113265142..113319056
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9ULC5.1 GenPept UniProtKB/Swiss-Prot:Q9ULC5

    Gene LinkOut

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

    Other Literature Sources
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