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
  • FACL4 3 4 6
  • ACS4 3 4 6
  • 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 6.2.1.3 4 63
  • LACS 4 3 4
  • MRX63 3 6
  • LACS4 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
  • MRX68 3

External Ids for ACSL4 Gene

Previous Symbols for ACSL4 Gene

  • FACL4
  • MRX63
  • MRX68

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 2 transcript variants. [provided by RefSeq, Jul 2008]

GeneCards Summary for ACSL4 Gene

ACSL4 (Acyl-CoA Synthetase Long-Chain Family Member 4) is a Protein Coding gene. Diseases associated with ACSL4 include alport syndrome - intellectual disability - midface hypoplasia - elliptocytosis and alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis. Among its related pathways are Metabolism and Metabolism. 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 Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ACSL4 Gene

Genomics for ACSL4 Gene

Genomic Location for ACSL4 Gene

Start:
109,624,244 bp from pter
End:
109,733,403 bp from pter
Size:
109,160 bases
Orientation:
Minus strand

Genomic View for ACSL4 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ACSL4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ACSL4 Gene

Regulatory Elements for ACSL4 Gene

Proteins for ACSL4 Gene

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

    Protein Symbol:
    O60488-ACSL4_HUMAN
    Recommended name:
    Long-chain-fatty-acid--CoA ligase 4
    Protein Accession:
    O60488
    Secondary Accessions:
    • D3DUY2
    • O60848
    • O60849
    • Q5JWV8

    Protein attributes for ACSL4 Gene

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

    Alternative splice isoforms for ACSL4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ACSL4 Gene

Proteomics data for ACSL4 Gene at MOPED

Post-translational modifications for ACSL4 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys113, Lys388, Lys397, Lys401, Lys500, Lys621, Lys670, and Lys702

Other Protein References for ACSL4 Gene

Domains for ACSL4 Gene

Gene Families for ACSL4 Gene

HGNC:
  • ACS :Acyl-CoA synthetase family

Protein Domains for ACSL4 Gene

Graphical View of Domain Structure for InterPro Entry

O60488

UniProtKB/Swiss-Prot:

ACSL4_HUMAN
Family:
  • Belongs to the ATP-dependent AMP-binding enzyme family.:
    • O60488
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 --
GO:0004467 long-chain fatty acid-CoA ligase activity IDA 10669417
GO:0005524 ATP binding IEA --
GO:0031957 very long-chain fatty acid-CoA ligase activity IMP 11889465
GO:0047676 arachidonate-CoA ligase activity IDA 21242590
genes like me logo Genes that share ontologies with ACSL4: view
genes like me logo Genes that share phenotypes with ACSL4: view

Animal Models for ACSL4 Gene

MGI Knock Outs for ACSL4:

miRNA for ACSL4 Gene

No data available for Transcription Factor Targeting 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

COMPARTMENTS
Jensen Localization Image for ACSL4 Gene COMPARTMENTS Subcellular localization image for ACSL4 gene
Compartment Confidence
endoplasmic reticulum 5
mitochondrion 5
peroxisome 5
cytosol 1
endosome 1
extracellular 1
golgi apparatus 1
plasma membrane 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 --
GO:0005741 mitochondrial outer membrane IEA --
GO:0005777 peroxisome --
GO:0005778 peroxisomal membrane IEA --
genes like me logo Genes that share ontologies with ACSL4: view

Pathways 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 9598324
GO:0006641 triglyceride metabolic process --
GO:0007584 response to nutrient IEA --
GO:0008152 metabolic process --
genes like me logo Genes that share ontologies with ACSL4: view

Compounds for ACSL4 Gene

(41) HMDB Compounds for ACSL4 Gene

Compound Synonyms Cas Number PubMed IDs
(2E)-Decenoyl-CoA
  • (E)-S-2-decenoate Coenzyme A
10018-95-8
(2E)-Dodecenoyl-CoA
  • 2-trans-Dodecenoyl-Coenzyme A
1066-12-2
(2E)-Hexadecenoyl-CoA
  • trans-2-Hexadecenoyl-CoA
4460-95-1
(2E)-Octenoyl-CoA
  • (E)-S-2-octenoate Coenzyme A
10018-94-7
(2E)-Tetradecenoyl-CoA
  • (2E)-Tetradecenoyl-Coenzyme A
38795-33-4

(3) Drugbank Compounds for ACSL4 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Icosapent
  • Eicosapentaenoic acid
10417-94-4 target inducer
Rosiglitazone
122320-73-4 target inhibitor
Troglitazone
97322-87-7 target inhibitor

(5) Novoseek inferred chemical compound relationships for ACSL4 Gene

Compound -log(P) Hits PubMed IDs
acyl-coa 78.3 11
arachidonic acid 66.9 20
fatty acid 45.1 1
acth 33.2 4
steroid 28.3 2
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:

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: - - -
SP7:

ExUns: 16
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:

Relevant External Links for ACSL4 Gene

GeneLoc Exon Structure for
ACSL4
ECgene alternative splicing isoforms for
ACSL4

Expression for ACSL4 Gene

mRNA expression in normal human tissues for ACSL4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for ACSL4 Gene

SOURCE GeneReport for Unigene cluster for ACSL4 Gene Hs.268785

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

No data available for 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
chimpanzee
(Pan troglodytes)
Mammalia ACSL4 35
  • 99.75 (n)
  • 99.85 (a)
ACSL4 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ACSL4 35
  • 93.48 (n)
  • 95.92 (a)
ACSL4 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ACSL4 35
  • 93.86 (n)
  • 97.47 (a)
ACSL4 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Acsl4 35
  • 92.69 (n)
  • 96.77 (a)
Acsl4 16
Acsl4 36
  • 97 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ACSL4 36
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ACSL4 36
  • 92 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Acsl4 35
  • 91 (n)
  • 97.46 (a)
chicken
(Gallus gallus)
Aves ACSL4 35
  • 79.47 (n)
  • 85.94 (a)
ACSL4 36
  • 87 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ACSL4 36
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100494759 35
  • 76.42 (n)
  • 81.43 (a)
zebrafish
(Danio rerio)
Actinopterygii -- 35
acsl4 35
  • 70.02 (n)
  • 74.08 (a)
acsl4a 36
  • 74 (a)
OneToMany
acsl4l 36
  • 68 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Acsl 36
  • 46 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea acs-17 36
  • 45 (a)
ManyToMany
acs-4 35
  • 53.24 (n)
  • 46.61 (a)
acs-4 36
  • 43 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes FAA1 36
  • 28 (a)
ManyToMany
FAA3 36
  • 28 (a)
ManyToMany
FAA4 36
  • 31 (a)
ManyToMany
FAA4 38
thale cress
(Arabidopsis thaliana)
eudicotyledons LACS9 35
  • 53.33 (n)
  • 48.27 (a)
rice
(Oryza sativa)
Liliopsida Os12g0168700 35
  • 54.1 (n)
  • 49.62 (a)
Species with no ortholog for ACSL4:
  • 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

ENSEMBL:
Gene Tree for ACSL4 (if available)
TreeFam:
Gene Tree for ACSL4 (if available)

Paralogs for ACSL4 Gene

Paralogs for ACSL4 Gene

Selected 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 MAF
rs839402 -- 109,650,486(-) gtcca(C/T)gtgtt intron-variant
rs839403 -- 109,650,069(-) aacag(C/T)gtaaa intron-variant
rs839404 -- 109,670,315(-) gccac(C/T)atgcc intron-variant
rs839405 -- 109,669,643(-) AGGCC(A/G)AGGTG intron-variant
rs839406 -- 109,668,538(-) TTTTT(A/T)CCTCT intron-variant

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

Variant ID Type Subtype PubMed ID
dgv2463e1 CNV Complex 17122850
nsv438149 CNV Loss 16468122
esv2674329 CNV Deletion 23128226
nsv7034 CNV Loss 18451855
nsv523984 CNV Gain 19592680

Relevant External Links for ACSL4 Gene

HapMap Linkage Disequilibrium report
ACSL4
Human Gene Mutation Database (HGMD)
ACSL4
Locus Specific Mutation Databases (LSDB)
ACSL4

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

Disorders for ACSL4 Gene

(1) OMIM Diseases for ACSL4 Gene (300157)

UniProtKB/Swiss-Prot

ACSL4_HUMAN
  • 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.
  • 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. Note=The gene represented in this entry may be involved in disease pathogenesis.

(2) University of Copenhagen DISEASES for ACSL4 Gene

(11) Novoseek inferred disease relationships for ACSL4 Gene

Disease -log(P) Hits PubMed IDs
alports syndrome 77.1 3
elliptocytosis hereditary 70 1
mental retardation 59.5 13
colon adenocarcinoma 56.4 2
hepatocellular carcinoma 28.2 4

Relevant External Links for ACSL4

Genetic Association Database (GAD)
ACSL4
Human Genome Epidemiology (HuGE) Navigator
ACSL4
genes like me logo Genes that share disorders with ACSL4: view

Publications for ACSL4 Gene

  1. 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 23
  2. 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 23 25 48
  3. Cloning, expression, and chromosomal localization of human long-chain fatty acid-CoA ligase 4 (FACL4). (PMID: 9598324) Cao Y. … Prescott S.M. (Genomics 1998) 3 4 23
  4. FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X- linked mental retardation. (PMID: 11889465) Meloni I. … Renieri A. (Nat. Genet. 2002) 3 4 23
  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 23

Products for ACSL4 Gene

Sources for ACSL4 Gene

Back to Top

Content