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

Gene ID: 2182, updated on 10-Oct-2019

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
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
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

Genomic context

See ACSL4 in Genome Data Viewer
Location:
Xq23
Exon count:
18
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (109641335..109733392, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (108884564..108976621, 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 ribosomal protein S5 pseudogene 7 Neighboring gene transmembrane protein 164 Neighboring gene microRNA 652

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
Mental retardation 63, X-linked
MedGen: C1845672 OMIM: 300387 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2012-05-10)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2012-05-10)

ClinGen Genome Curation PagePubMed

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 BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
acyl-CoA ligase activity IEA
Inferred from Electronic Annotation
more info
 
arachidonate-CoA ligase activity IDA
Inferred from Direct Assay
more info
PubMed 
decanoate-CoA ligase activity IEA
Inferred from Electronic Annotation
more info
 
long-chain fatty acid-CoA ligase activity IDA
Inferred from Direct Assay
more info
PubMed 
long-chain fatty acid-CoA ligase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
very long-chain fatty acid-CoA ligase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
Process Evidence Code Pubs
dendritic spine development IEA
Inferred from Electronic Annotation
more info
 
embryonic process involved in female pregnancy IEA
Inferred from Electronic Annotation
more info
 
fatty acid transport IEA
Inferred from Electronic Annotation
more info
 
lipid metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
long-chain fatty acid metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
long-chain fatty acid metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
long-chain fatty-acyl-CoA biosynthetic process TAS
Traceable Author Statement
more info
 
positive regulation of insulin secretion ISS
Inferred from Sequence or Structural Similarity
more info
 
response to interleukin-15 IEA
Inferred from Electronic Annotation
more info
 
response to nutrient IEA
Inferred from Electronic Annotation
more info
 
triglyceride biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Mitochondria-associated ER Membrane IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
lipid droplet IDA
Inferred from Direct Assay
more info
PubMed 
membrane HDA PubMed 
mitochondrial outer membrane IEA
Inferred from Electronic Annotation
more info
 
neuronal cell body IEA
Inferred from Electronic Annotation
more info
 
peroxisomal membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IEA
Inferred from Electronic Annotation
more info
 

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

NCBI Reference Sequences (RefSeq)

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
    5001..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
    Related
    ENSP00000419171.2, ENST00000469796.7
    Conserved Domains (2) summary
    cd05927
    Location:121708
    LC-FACS_euk; Eukaryotic long-chain fatty acid CoA synthetase (LC-FACS)
    PLN02387
    Location:32708
    PLN02387; long-chain-fatty-acid-CoA ligase family protein
  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_022977.2NP_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
    Related
    ENSP00000339787.2, ENST00000340800.6
    Conserved Domains (2) summary
    cd05927
    Location:121708
    LC-FACS_euk; Eukaryotic long-chain fatty acid CoA synthetase (LC-FACS)
    PLN02387
    Location:32708
    PLN02387; long-chain-fatty-acid-CoA ligase family protein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    109641335..109733392 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011530889.2XP_011529191.1  long-chain-fatty-acid--CoA ligase 4 isoform X1

    See identical proteins and their annotated locations for XP_011529191.1

    UniProtKB/Swiss-Prot
    O60488
    Conserved Domains (2) summary
    cd05927
    Location:121708
    LC-FACS_euk; Eukaryotic long-chain fatty acid CoA synthetase (LC-FACS)
    PLN02387
    Location:32708
    PLN02387; long-chain-fatty-acid-CoA ligase family protein
  2. XM_005262109.2XP_005262166.1  long-chain-fatty-acid--CoA ligase 4 isoform X1

    See identical proteins and their annotated locations for XP_005262166.1

    UniProtKB/Swiss-Prot
    O60488
    Related
    ENSP00000425408.2, ENST00000502391.6
    Conserved Domains (2) summary
    cd05927
    Location:121708
    LC-FACS_euk; Eukaryotic long-chain fatty acid CoA synthetase (LC-FACS)
    PLN02387
    Location:32708
    PLN02387; long-chain-fatty-acid-CoA ligase family protein
  3. XM_011530888.2XP_011529190.1  long-chain-fatty-acid--CoA ligase 4 isoform X1

    See identical proteins and their annotated locations for XP_011529190.1

    UniProtKB/Swiss-Prot
    O60488
    Related
    ENSP00000500897.1, ENST00000671846.1
    Conserved Domains (2) summary
    cd05927
    Location:121708
    LC-FACS_euk; Eukaryotic long-chain fatty acid CoA synthetase (LC-FACS)
    PLN02387
    Location:32708
    PLN02387; long-chain-fatty-acid-CoA ligase family protein
  4. XM_006724635.2XP_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)
  5. XM_024452351.1XP_024308119.1  long-chain-fatty-acid--CoA ligase 4 isoform X2

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