U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination
    • Showing Current items.

    ACSL4 acyl-CoA synthetase long chain family member 4 [ Homo sapiens (human) ]

    Gene ID: 2182, updated on 22-Sep-2022

    Summary

    Official Symbol
    ACSL4provided by HGNC
    Official Full Name
    acyl-CoA synthetase long chain family member 4provided by HGNC
    Primary source
    HGNC:HGNC:3571
    See related
    Ensembl:ENSG00000068366 MIM:300157; AllianceGenome:HGNC:3571
    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
    ACS4; FACL4; LACS4; MRX63; MRX68; XLID63
    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 preferentially utilizes arachidonate as substrate. The absence of this enzyme may contribute to the cognitive disability or Alport syndrome. Alternative splicing of this gene generates multiple transcript variants. [provided by RefSeq, Jan 2016]
    Expression
    Ubiquitous expression in adrenal (RPKM 24.5), appendix (RPKM 24.0) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See ACSL4 in Genome Data Viewer
    Location:
    Xq23
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    110 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (109641335..109733257, complement)
    110 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (108089125..108181021, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (108884564..108976486, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene potassium voltage-gated channel subfamily E regulatory subunit 5 Neighboring gene protein phosphatase 6 catalytic subunit pseudogene Neighboring gene uncharacterized LOC105373311 Neighboring gene RPS5 pseudogene 7 Neighboring gene Sharpr-MPRA regulatory region 2184

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Intellectual disability, X-linked 63
    MedGen: C1845672 OMIM: 300387 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    Little evidence for dosage pathogenicity (Last evaluated 2021-04-28)

    ClinGen Genome Curation PagePubMed
    Triplosensitivity

    No evidence available (Last evaluated 2021-04-28)

    ClinGen Genome Curation Page

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Vpr vpr A stable-isotope labeling by amino acids in cell culture coupled with mass spectrometry-based proteomics identifies upregulation of acyl-CoA synthetase long-chain family member 4 (ACSL4) expression by HIV-1 Vpr in Vpr transduced macrophages PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    located_in extracellular exosome HDA PubMed 
    is_active_in lipid droplet IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in lipid droplet IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in membrane HDA PubMed 
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in mitochondria-associated endoplasmic reticulum membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in mitochondrial outer membrane TAS
    Traceable Author Statement
    more info
     
    located_in peroxisomal membrane IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 

    General protein information

    Preferred Names
    long-chain-fatty-acid--CoA ligase 4
    Names
    acyl-CoA synthetase 4
    arachidonate--CoA ligase
    fatty-acid-Coenzyme A ligase, long-chain 4
    lignoceroyl-CoA synthase
    long-chain acyl-CoA synthetase 4
    long-chain fatty-acid-Coenzyme A ligase 4
    NP_001305438.1
    NP_001305439.1
    NP_004449.1
    NP_075266.1
    XP_005262166.1
    XP_006724698.1
    XP_011529190.1
    XP_011529191.1
    XP_024308119.1
    XP_047297874.1
    XP_047297875.1

    NCBI Reference Sequences (RefSeq)

    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_008053.1 RefSeqGene

      Range
      5136..97058
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001318509.2NP_001305438.1  long-chain-fatty-acid--CoA ligase 4 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and 5' coding region compared to variant 1. The encoded isoform (2) has a longer N-terminus compared to isoform 1. Variants 2 and 3 encode the same isoform (2).
      Source sequence(s)
      AF030555, AK307566, AL118496, AL138968, BQ022679
      Consensus CDS
      CCDS14548.1
      UniProtKB/Swiss-Prot
      O60488, Q5JWV8
      Related
      ENSP00000419171.2, ENST00000469796.7
      Conserved Domains (1) summary
      cd17639
      Location:121696
      LC_FACS_euk1; Eukaryotic long-chain fatty acid CoA synthetase (LC-FACS), including fungal proteins
    2. NM_001318510.2NP_001305439.1  long-chain-fatty-acid--CoA ligase 4 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variant 1 and 4 encode the same isoform (1).
      Source sequence(s)
      AF030555, AK292070, BC034959
      Consensus CDS
      CCDS14549.1
      UniProtKB/Swiss-Prot
      O60488
      UniProtKB/TrEMBL
      Q8TAF6
      Related
      ENSP00000500273.1, ENST00000672401.1
      Conserved Domains (1) summary
      cd05927
      Location:80667
      LC-FACS_euk; Eukaryotic long-chain fatty acid CoA synthetase (LC-FACS)
    3. NM_004458.3NP_004449.1  long-chain-fatty-acid--CoA ligase 4 isoform 1

      See identical proteins and their annotated locations for NP_004449.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes isoform 1. Variants 1 and 4 encode the same isoform (1).
      Source sequence(s)
      AF030555, BC034959, BQ016115, CN310691, DR004263
      Consensus CDS
      CCDS14549.1
      UniProtKB/Swiss-Prot
      O60488
      Related
      ENSP00000262835.7, ENST00000348502.10
      Conserved Domains (1) summary
      cd05927
      Location:80667
      LC-FACS_euk; Eukaryotic long-chain fatty acid CoA synthetase (LC-FACS)
    4. NM_022977.3NP_075266.1  long-chain-fatty-acid--CoA ligase 4 isoform 2

      See identical proteins and their annotated locations for NP_075266.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and 5' coding region compared to variant 1. The encoded isoform (2) has a longer N-terminus compared to isoform 1. Variants 2 and 3 encode the same isoform (2).
      Source sequence(s)
      AF030555, BC034959, BQ016115, CN310691, DR004263, Y13058
      Consensus CDS
      CCDS14548.1
      UniProtKB/Swiss-Prot
      O60488, Q5JWV8
      Related
      ENSP00000339787.2, ENST00000340800.7
      Conserved Domains (1) summary
      cd17639
      Location:121696
      LC_FACS_euk1; Eukaryotic long-chain fatty acid CoA synthetase (LC-FACS), including fungal proteins

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      109641335..109733257 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047441919.1XP_047297875.1  long-chain-fatty-acid--CoA ligase 4 isoform X3

    2. XM_006724635.3XP_006724698.1  long-chain-fatty-acid--CoA ligase 4 isoform X3

      See identical proteins and their annotated locations for XP_006724698.1

      UniProtKB/Swiss-Prot
      O60488
      Related
      ENSP00000500678.1, ENST00000672282.1
      Conserved Domains (1) summary
      cd05927
      Location:80667
      LC-FACS_euk; Eukaryotic long-chain fatty acid CoA synthetase (LC-FACS)
    3. XM_011530889.3XP_011529191.1  long-chain-fatty-acid--CoA ligase 4 isoform X2

      See identical proteins and their annotated locations for XP_011529191.1

      UniProtKB/Swiss-Prot
      O60488, Q5JWV8
      Conserved Domains (1) summary
      cd17639
      Location:121696
      LC_FACS_euk1; Eukaryotic long-chain fatty acid CoA synthetase (LC-FACS), including fungal proteins
    4. XM_005262109.3XP_005262166.1  long-chain-fatty-acid--CoA ligase 4 isoform X2

      See identical proteins and their annotated locations for XP_005262166.1

      UniProtKB/Swiss-Prot
      O60488, Q5JWV8
      Related
      ENSP00000425408.2, ENST00000502391.6
      Conserved Domains (1) summary
      cd17639
      Location:121696
      LC_FACS_euk1; Eukaryotic long-chain fatty acid CoA synthetase (LC-FACS), including fungal proteins
    5. XM_047441918.1XP_047297874.1  long-chain-fatty-acid--CoA ligase 4 isoform X3

    6. XM_011530888.3XP_011529190.1  long-chain-fatty-acid--CoA ligase 4 isoform X2

      See identical proteins and their annotated locations for XP_011529190.1

      UniProtKB/Swiss-Prot
      O60488, Q5JWV8
      Related
      ENSP00000500897.1, ENST00000671846.1
      Conserved Domains (1) summary
      cd17639
      Location:121696
      LC_FACS_euk1; Eukaryotic long-chain fatty acid CoA synthetase (LC-FACS), including fungal proteins
    7. XM_024452351.2XP_024308119.1  long-chain-fatty-acid--CoA ligase 4 isoform X1

      Conserved Domains (1) summary
      cd05927
      Location:127714
      LC-FACS_euk; Eukaryotic long-chain fatty acid CoA synthetase (LC-FACS)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      108089125..108181021 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)