Free for academic non-profit institutions. Other users need a Commercial license

Aliases for ACSL4 Gene

Aliases for ACSL4 Gene

  • Acyl-CoA Synthetase Long-Chain Family Member 4 2 3 5
  • Fatty-Acid-Coenzyme A Ligase, Long-Chain 4 2 3
  • Long-Chain Fatty-Acid-Coenzyme A Ligase 4 2 3
  • Long-Chain Acyl-CoA Synthetase 4 3 4
  • Lignoceroyl-CoA Synthase 2 3
  • EC 4 61
  • LACS 4 3 4
  • FACL4 3 4
  • LACS4 3 4
  • ACS4 3 4
  • Long-Chain-Fatty-Acid--CoA Ligase 4 3
  • Mental Retardation, X-Linked 63 2
  • Mental Retardation, X-Linked 68 2
  • Acyl-CoA Synthetase 4 3
  • MRX63 3
  • MRX68 3

External Ids for ACSL4 Gene

Previous HGNC Symbols for ACSL4 Gene

  • FACL4
  • MRX63
  • MRX68

Previous GeneCards Identifiers for ACSL4 Gene

  • GC0XM107649
  • GC0XM108690
  • GC0XM108771
  • GC0XM108884
  • GC0XM108872
  • GC0XM098507

Summaries for ACSL4 Gene

Entrez Gene Summary for ACSL4 Gene

  • 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 mental retardation or Alport syndrome. Alternative splicing of this gene generates multiple transcript variants. [provided by RefSeq, Jan 2016]

GeneCards Summary for ACSL4 Gene

ACSL4 (Acyl-CoA Synthetase Long-Chain Family Member 4) is a Protein Coding gene. Diseases associated with ACSL4 include Non-Syndromic X-Linked Intellectual Disability and Alport Syndrome, Mental Retardation, Midface Hypoplasia, And Elliptocytosis. Among its related pathways are Fatty Acyl-CoA Biosynthesis and Peroxisome. GO annotations related to this gene include long-chain fatty acid-CoA ligase activity and arachidonate-CoA ligase activity. An important paralog of this gene is ACSL3.

UniProtKB/Swiss-Prot for ACSL4 Gene

  • Activation of long-chain fatty acids for both synthesis of cellular lipids, and degradation via beta-oxidation. Preferentially uses arachidonate and eicosapentaenoate as substrates.

Gene Wiki entry for ACSL4 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ACSL4 Gene

Genomics for ACSL4 Gene

Regulatory Elements for ACSL4 Gene

Enhancers for ACSL4 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH0XG109839 1.6 FANTOM5 Ensembl ENCODE 56 -107.6 -107637 2.9 ATF1 FEZF1 TCF12 GLIS2 FOS JUNB NCOA1 MAFF SMARCA4 GLIS1 ACSL4 NXT2 RPS5P7 GC0XM109745 ENSG00000252069
GH0XG109773 0.8 FANTOM5 ENCODE 38 -40.1 -40148 0.2 BHLHE40 TBX21 CREM ACSL4 NXT2 GC0XM109745 ENSG00000252069 RPS5P7
GH0XG109845 1.2 Ensembl ENCODE 12.9 -114.4 -114373 4.1 ELF3 TBP BRCA1 RAD21 THRB RARA RFX5 TCF12 GATA4 GATA2 ACSL4 RPS5P7 ENSG00000252069 GC0XM109745
GH0XG109856 1.1 Ensembl ENCODE 13.7 -124.5 -124521 2.7 ELF3 FOXA2 RAD21 RARA ETV6 CREM ELK4 ZNF654 JUNB CEBPB ACSL4 RPS5P7 GC0XP109871
GH0XG109854 1 Ensembl ENCODE 13.7 -122.3 -122339 1.6 SOX13 ZNF146 ZMYM3 ZNF664 ARID3A RELB IKZF2 GATAD2A SOX5 NFIA ACSL4 RPS5P7 GC0XP109871
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ACSL4 on UCSC Golden Path with GeneCards custom track

Promoters for ACSL4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000247942 803 3201 PKNOX1 ATF1 ARNT ARID4B FEZF1 ZNF48 ZNF766 CBX5 GATA2 ELK1

Genomic Location for ACSL4 Gene

109,624,244 bp from pter
109,733,403 bp from pter
109,160 bases
Minus strand

Genomic View for ACSL4 Gene

Genes around ACSL4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ACSL4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ACSL4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ACSL4 Gene

Proteins for ACSL4 Gene

  • Protein details for ACSL4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Long-chain-fatty-acid--CoA ligase 4
    Protein Accession:
    Secondary Accessions:
    • D3DUY2
    • O60848
    • O60849
    • Q5JWV8

    Protein attributes for ACSL4 Gene

    711 amino acids
    Molecular mass:
    79188 Da
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for ACSL4 Gene


neXtProt entry for ACSL4 Gene

Selected DME Specific Peptides for ACSL4 Gene


Post-translational modifications for ACSL4 Gene

  • Ubiquitination at Lys113, posLast=388388, Lys397, Lys401, Lys500, Lys621, posLast=670670, and posLast=702702
  • Modification sites at PhosphoSitePlus

Domains & Families for ACSL4 Gene

Protein Domains for ACSL4 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the ATP-dependent AMP-binding enzyme family.
  • Belongs to the ATP-dependent AMP-binding enzyme family.
genes like me logo Genes that share domains with ACSL4: view

Function for ACSL4 Gene

Molecular function for ACSL4 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
ATP + a long-chain fatty acid + CoA = AMP + diphosphate + an acyl-CoA.
UniProtKB/Swiss-Prot Function:
Activation of long-chain fatty acids for both synthesis of cellular lipids, and degradation via beta-oxidation. Preferentially uses arachidonate and eicosapentaenoate as substrates.

Enzyme Numbers (IUBMB) for ACSL4 Gene

Gene Ontology (GO) - Molecular Function for ACSL4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0004467 long-chain fatty acid-CoA ligase activity IDA,EXP 10669417
GO:0005524 ATP binding IEA --
GO:0016874 ligase activity IEA --
GO:0031957 very long-chain fatty acid-CoA ligase activity IMP 11889465
genes like me logo Genes that share ontologies with ACSL4: view
genes like me logo Genes that share phenotypes with ACSL4: view

Human Phenotype Ontology for ACSL4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ACSL4 Gene

MGI Knock Outs for ACSL4:

Animal Model Products

CRISPR Products

miRNA for ACSL4 Gene

miRTarBase miRNAs that target ACSL4

Inhibitory RNA Products

No data available for Transcription Factor Targets and HOMER Transcription for ACSL4 Gene

Localization for ACSL4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ACSL4 Gene

Mitochondrion outer membrane; Single-pass type III membrane protein. Peroxisome membrane; Single-pass type III membrane protein. Microsome membrane; Single-pass type III membrane protein. Endoplasmic reticulum membrane; Single-pass type III membrane protein.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ACSL4 gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 5
mitochondrion 4
peroxisome 4
golgi apparatus 3
plasma membrane 1
cytosol 1
endosome 1

Gene Ontology (GO) - Cellular Components for ACSL4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 11889465
GO:0005739 mitochondrion IEA --
GO:0005741 mitochondrial outer membrane IEA --
GO:0005777 peroxisome IEA --
GO:0005778 peroxisomal membrane IEA --
genes like me logo Genes that share ontologies with ACSL4: view

Pathways & Interactions for ACSL4 Gene

genes like me logo Genes that share pathways with ACSL4: view

Gene Ontology (GO) - Biological Process for ACSL4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001676 long-chain fatty acid metabolic process IEA --
GO:0006629 lipid metabolic process IDA,IEA 9598324
GO:0006631 fatty acid metabolic process IEA --
GO:0006641 triglyceride metabolic process IEA --
GO:0007584 response to nutrient IEA --
genes like me logo Genes that share ontologies with ACSL4: view

No data available for SIGNOR curated interactions for ACSL4 Gene

Drugs & Compounds for ACSL4 Gene

(12) Drugs for ACSL4 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Icosapent Approved Nutra Target, inducer Endogenous polyunsaturated fatty acid; stimulates ERK1/2 phosphorylation 0
Rosiglitazone Approved, Investigational Pharma Full agonist, Agonist, Target, inhibitor Potent PPARγ agonist, Potent and selective PPARgamma agonist; antidiabetic agent. 220
Phosphoric acid Approved Pharma 0
Adenosine monophosphate Approved Nutra 0
Adenosine triphosphate Approved Nutra 0

(36) Additional Compounds for ACSL4 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • (E)-S-2-decenoate
  • (E)-S-2-decenoate CoA
  • (E)-S-2-decenoate Coenzyme A
  • (E)-S-2-decenoic acid
  • 2-trans-Decenoyl-CoA
  • (2E)-Dodec-2-enoyl-CoA
  • (2E)-Dodec-2-enoyl-Coenzyme A
  • 2-trans-Dodecenoyl-CoA
  • 2-trans-Dodecenoyl-Coenzyme A
  • (2E)-Hexadecenoyl-CoA
  • (2E)-Hexadecenoyl-Coenzyme A
  • trans-2-Hexadecenoyl-CoA
  • trans-2-Hexadecenoyl-Coenzyme A
  • (E)-S-2-octenoate
  • (E)-S-2-octenoate CoA
  • (E)-S-2-octenoate Coenzyme A
  • (E)-S-2-octenoic acid
  • 2,3-trans-Octenoyl coenzyme A
  • (2E)-Tetradecenoyl-CoA
  • (2E)-Tetradecenoyl-Coenzyme A
  • Trans-tetra-dec-2-enoyl-CoA
  • Trans-tetra-dec-2-enoyl-CoA.
  • Trans-tetra-dec-2-enoyl-Coenzyme A
genes like me logo Genes that share compounds with ACSL4: view

Transcripts for ACSL4 Gene

Unigene Clusters for ACSL4 Gene

Acyl-CoA synthetase long-chain family member 4:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for ACSL4 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b ^ 3a · 3b · 3c · 3d ^ 4a · 4b · 4c · 4d ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^
SP1: - - -
SP2: - - -
SP3: -
SP4: - -
SP5: - -
SP6: - - -

ExUns: 16

Relevant External Links for ACSL4 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ACSL4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ACSL4 Gene

Protein differential expression in normal tissues from HIPED for ACSL4 Gene

This gene is overexpressed in Breast (29.9) and Fetal Liver (13.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ACSL4 Gene

Protein tissue co-expression partners for ACSL4 Gene

NURSA nuclear receptor signaling pathways regulating expression of ACSL4 Gene:


SOURCE GeneReport for Unigene cluster for ACSL4 Gene:


Evidence on tissue expression from TISSUES for ACSL4 Gene

  • Eye(4.3)
  • Stomach(4.2)
  • Nervous system(4.1)
  • Liver(2.7)
  • Muscle(2.3)
  • Adrenal gland(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ACSL4 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Head and neck:
  • brain
  • cerebellum
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • nose
  • outer ear
  • salivary gland
  • skull
  • tooth
  • lung
  • rib
  • rib cage
  • kidney
  • pelvis
  • testicle
  • ureter
  • urinary bladder
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
  • blood
  • blood vessel
  • coagulation system
  • hair
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with ACSL4: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for ACSL4 Gene

Orthologs for ACSL4 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ACSL4 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia ACSL4 34 35
  • 99.75 (n)
(Canis familiaris)
Mammalia ACSL4 34 35
  • 93.86 (n)
(Bos Taurus)
Mammalia ACSL4 34 35
  • 93.48 (n)
(Mus musculus)
Mammalia Acsl4 34 16 35
  • 92.69 (n)
(Monodelphis domestica)
Mammalia ACSL4 35
  • 92 (a)
(Ornithorhynchus anatinus)
Mammalia ACSL4 35
  • 92 (a)
(Rattus norvegicus)
Mammalia Acsl4 34
  • 91 (n)
(Gallus gallus)
Aves ACSL4 34 35
  • 79.47 (n)
(Anolis carolinensis)
Reptilia ACSL4 35
  • 83 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100494759 34
  • 76.42 (n)
(Danio rerio)
Actinopterygii acsl4a 35
  • 74 (a)
acsl4 34
  • 70.02 (n)
acsl4l 35
  • 68 (a)
-- 34
fruit fly
(Drosophila melanogaster)
Insecta Acsl 35
  • 46 (a)
(Caenorhabditis elegans)
Secernentea acs-4 34 35
  • 53.24 (n)
acs-17 35
  • 45 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes FAA4 35 37
  • 31 (a)
FAA1 35
  • 28 (a)
FAA3 35
  • 28 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons LACS9 34
  • 53.33 (n)
(Oryza sativa)
Liliopsida Os12g0168700 34
  • 54.1 (n)
Species where no ortholog for ACSL4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ACSL4 Gene

Gene Tree for ACSL4 (if available)
Gene Tree for ACSL4 (if available)

Paralogs for ACSL4 Gene

Paralogs for ACSL4 Gene

(6) SIMAP similar genes for ACSL4 Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with ACSL4: view

Variants for ACSL4 Gene

Sequence variations from dbSNP and Humsavar for ACSL4 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
rs122458138 Pathogenic, Mental retardation, X-linked 63 (MRX63) [MIM:300387] 109,661,643(-) CAGAT(A/C)GTAAG reference, missense
rs753267653 A colorectal cancer sample 109,682,851(+) TCTGC(A/G)ATTCA reference, missense
rs122458139 Pathogenic 109,674,403(-) TGTTC(C/T)GGTGA reference, missense
rs886042180 Pathogenic 109,678,072(+) AGCAC(-/AT)GAGCC reference, frameshift-variant
rs200451158 Likely benign 109,665,485(+) TAGTA(C/T)AGTCA reference, missense

Structural Variations from Database of Genomic Variants (DGV) for ACSL4 Gene

Variant ID Type Subtype PubMed ID
esv2674329 CNV deletion 23128226
esv2758883 CNV loss 17122850
esv3577041 CNV gain 25503493
esv3577042 CNV gain 25503493
nsv1152281 CNV duplication 26484159
nsv438149 CNV loss 16468122
nsv473766 CNV novel sequence insertion 20440878
nsv523984 CNV gain 19592680
nsv7034 CNV deletion 18451855

Variation tolerance for ACSL4 Gene

Residual Variation Intolerance Score: 12.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.55; 11.85% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ACSL4 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ACSL4 Gene

Disorders for ACSL4 Gene

MalaCards: The human disease database

(6) MalaCards diseases for ACSL4 Gene - From: Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search ACSL4 in MalaCards View complete list of genes associated with diseases


  • Alport syndrome with mental retardation, midface hypoplasia and elliptocytosis (ATS-MR) [MIM:300194]: A X-linked contiguous gene deletion syndrome characterized by glomerulonephritis, sensorineural hearing loss, mental retardation, midface hypoplasia and elliptocytosis. {ECO:0000269 PubMed:9480748}. Note=The gene represented in this entry may be involved in disease pathogenesis.
  • Mental retardation, X-linked 63 (MRX63) [MIM:300387]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked mental retardation, while syndromic mental retardation presents with associated physical, neurological and/or psychiatric manifestations. {ECO:0000269 PubMed:11889465}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ACSL4

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with ACSL4: view

No data available for Genatlas for ACSL4 Gene

Publications for ACSL4 Gene

  1. Association of a long-chain fatty acid-CoA ligase 4 gene polymorphism with depression and with enhanced niacin-induced dermal erythema. (PMID: 15108178) Covault J. … Kranzler H.R. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2004) 3 22 25 46 64
  2. FACL4, a new gene encoding long-chain acyl-CoA synthetase 4, is deleted in a family with Alport syndrome, elliptocytosis, and mental retardation. (PMID: 9480748) Piccini M. … Renieri A. (Genomics 1998) 2 3 4 22 64
  3. Fatty acid CoA ligase-4 gene polymorphism influences fatty acid metabolism in metabolic syndrome, but not in depression. (PMID: 19346733) Zeman M. … ZA!k A. (Tohoku J. Exp. Med. 2009) 3 22 46 64
  4. No association between polymorphisms in the FACL4 (fatty acid-CoA ligase 4) gene and nonspecific mental retardation in Qin-Ba mountain region of China. (PMID: 18614287) An C. … Zhang F. (Neurosci. Lett. 2008) 3 22 46 64
  5. Localization of a non-syndromic X-linked mental retardation gene (MRX80) to Xq22-q24. (PMID: 12949969) Verot L. … Edery P. (Am. J. Med. Genet. A 2003) 2 3 22 64

Products for ACSL4 Gene

Sources for ACSL4 Gene

Loading form....