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... See more...

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--CoA Ligase 4 3 4
  • Long-Chain Acyl-CoA Synthetase 4 3 4
  • Arachidonate--CoA Ligase 3 4
  • Lignoceroyl-CoA Synthase 2 3
  • EC 6.2.1.3 4 54
  • FACL4 3 4
  • LACS4 3 4
  • ACS4 3 4
  • Long-Chain Fatty-Acid-Coenzyme A Ligase 4 2
  • Long-Chain Fatty-Acid-Coenzyme A Ligase 4 3
  • Mental Retardation, X-Linked 63 2
  • Mental Retardation, X-Linked 68 2
  • Acyl-CoA Synthetase 4 3
  • EC 6.2.1.15 4
  • LACS 4 4
  • 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 cognitive disability 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 X-Linked Non-Specific Intellectual Disability and Stroke, Ischemic. Among its related pathways are Fatty Acid Biosynthesis (WikiPathways) and PPAR signaling pathway. Gene Ontology (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 Summary for ACSL4 Gene

  • Catalyzes the conversion of long-chain fatty acids to their active form acyl-CoA for both synthesis of cellular lipids, and degradation via beta-oxidation (PubMed:24269233, PubMed:22633490, PubMed:21242590). Preferentially activates arachidonate and eicosapentaenoate as substrates (PubMed:21242590). Preferentially activates 8,9-EET > 14,15-EET > 5,6-EET > 11,12-EET. Modulates glucose-stimulated insulin secretion by regulating the levels of unesterified EETs (By similarity). Modulates prostaglandin E2 secretion (PubMed:21242590).

Gene Wiki entry for ACSL4 Gene

Additional gene information for ACSL4 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ACSL4 Gene

Genomics for ACSL4 Gene

GeneHancer (GH) Regulatory Elements for ACSL4 Gene

Promoters and enhancers for ACSL4 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XJ109727 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 754.6 +2.3 2322 7 SMARCE1 POLR2A MYC ETV6 ELF1 HLF L3MBTL2 MAX ZFX CEBPG ACSL4 LOC105373311 lnc-KCNE5-2 lnc-KCNE5-3
GH0XJ109734 Promoter 0.3 Ensembl 750.6 -1.6 -1598 0.8 ACSL4 lnc-KCNE5-3 LOC105373311 MF281481
GH0XJ109689 Promoter 0.3 EPDnew 750.3 +44.2 44237 0.1 ACSL4 RF00017-8614 lnc-ACSL4-1
GH0XJ109839 Enhancer 1.1 FANTOM5 ENCODE 56 -107.6 -107637 2.9 SMARCE1 ZNF362 TEAD4 ZNF148 ZFX ZNF384 MAFK CBFA2T2 SMARCA4 TRIM24 lnc-TMEM164-3 ACSL4 NXT2 RF00017-8615
GH0XJ109773 Enhancer 1.2 FANTOM5 Ensembl ENCODE 38 -41.6 -41618 3.2 NR2F1 NR2F6 ETV6 RELA DACH1 TEAD4 CEBPG CBFA2T2 SMARCA4 CREM ACSL4 NXT2 piR-58297-526 HSALNG0139500
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ACSL4 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ACSL4 gene promoter:
  • AP-2alpha
  • AP-2alphaA
  • AP-2beta
  • AP-2gamma
  • Egr-3
  • LCR-F1
  • SRF
  • SRF (504 AA)
  • USF-1
  • USF1

Genomic Locations for ACSL4 Gene

Genomic Locations for ACSL4 Gene
chrX:109,624,244-109,733,403
(GRCh38/hg38)
Size:
109,160 bases
Orientation:
Minus strand
chrX:108,867,473-108,976,632
(GRCh37/hg19)
Size:
109,160 bases
Orientation:
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:
    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

Selected DME Specific Peptides for ACSL4 Gene

O60488:
  • GCRIGYSSP
  • YIGYLPLAHVLEL
  • IAIFCETRAEWMIAAQ
  • QPNGKVFKK
  • LGKVEAALKN
  • TGRVGAPL
  • PLIDNICA
  • IIDRKKDLVKLQAGEYV
  • DQSSKIKKGSKGD

Post-translational modifications for ACSL4 Gene

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

Domains & Families for ACSL4 Gene

Gene Families for ACSL4 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for ACSL4 Gene

Suggested Antigen Peptide Sequences for ACSL4 Gene

GenScript: Design optimal peptide antigens:
  • Long-chain acyl-CoA synthetase 4 (ACSL4_HUMAN)
  • cDNA FLJ78368, highly similar to Homo sapiens acyl-CoA synthetase long-chain family member 4 (ACSL4), transcript variant 1, mRNA (Q5JWV8_HUMAN)
  • Acyl-CoA synthetase 4 (Q8TAF6_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O60488

UniProtKB/Swiss-Prot:

ACSL4_HUMAN :
  • Belongs to the ATP-dependent AMP-binding enzyme family.
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 Function:
Catalyzes the conversion of long-chain fatty acids to their active form acyl-CoA for both synthesis of cellular lipids, and degradation via beta-oxidation (PubMed:24269233, PubMed:22633490, PubMed:21242590). Preferentially activates arachidonate and eicosapentaenoate as substrates (PubMed:21242590). Preferentially activates 8,9-EET > 14,15-EET > 5,6-EET > 11,12-EET. Modulates glucose-stimulated insulin secretion by regulating the levels of unesterified EETs (By similarity). Modulates prostaglandin E2 secretion (PubMed:21242590).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a long-chain fatty acid + ATP + CoA = a long-chain fatty acyl-CoA + AMP + diphosphate; Xref=Rhea:RHEA:15421, ChEBI:CHEBI:30616, ChEBI:CHEBI:33019, ChEBI:CHEBI:57287, ChEBI:CHEBI:57560, ChEBI:CHEBI:83139, ChEBI:CHEBI:456215; EC=6.2.1.3; Evidence={ECO:0000269 PubMed:21242590, ECO:0000269 PubMed:22633490, ECO:0000269 PubMed:24269233}; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:15422; Evidence={ECO:0000269 PubMed:21242590, ECO:0000269 PubMed:22633490, ECO:0000269 PubMed:24269233};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(5Z,8Z,11Z,14Z)-eicosatetraenoate + ATP + CoA = (5Z,8Z,11Z,14Z)-eicosatetraenoyl-CoA + AMP + diphosphate; Xref=Rhea:RHEA:19713, ChEBI:CHEBI:30616, ChEBI:CHEBI:32395, ChEBI:CHEBI:33019, ChEBI:CHEBI:57287, ChEBI:CHEBI:57368, ChEBI:CHEBI:456215; EC=6.2.1.15; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:19714; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + CoA + hexadecanoate = AMP + diphosphate + hexadecanoyl-CoA; Xref=Rhea:RHEA:30751, ChEBI:CHEBI:7896, ChEBI:CHEBI:30616, ChEBI:CHEBI:33019, ChEBI:CHEBI:57287, ChEBI:CHEBI:57379, ChEBI:CHEBI:456215; Evidence={ECO:0000269 PubMed:21242590, ECO:0000269 PubMed:24269233}; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:30752; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(E)-hexadec-2-enoate + ATP + CoA = (2E)-hexadecenoyl-CoA + AMP + diphosphate; Xref=Rhea:RHEA:36139, ChEBI:CHEBI:30616, ChEBI:CHEBI:33019, ChEBI:CHEBI:57287, ChEBI:CHEBI:61526, ChEBI:CHEBI:72745, ChEBI:CHEBI:456215; Evidence={ECO:0000269 PubMed:22633490, ECO:0000269 PubMed:24269233}; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:36140; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=15-hydroxy-(5Z,8Z,11Z,13E)-eicosatetraenoate + ATP + CoA = 15-hydroxy-(5Z,8Z,11Z,13E)-eicosatetraenoyl-CoA + AMP + diphosphate; Xref=Rhea:RHEA:52116, ChEBI:CHEBI:30616, ChEBI:CHEBI:33019, ChEBI:CHEBI:57287, ChEBI:CHEBI:78832, ChEBI:CHEBI:136409, ChEBI:CHEBI:456215; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:52117; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=12-hydroxy-(5Z,8Z,10E,14Z)-eicosatetraenoate + ATP + CoA = 12-hydroxy-(5Z,8Z,10E,14Z)-eicosatetraenoyl-CoA + AMP + diphosphate; Xref=Rhea:RHEA:52112, ChEBI:CHEBI:30616, ChEBI:CHEBI:33019, ChEBI:CHEBI:57287, ChEBI:CHEBI:90718, ChEBI:CHEBI:136408, ChEBI:CHEBI:456215; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:52113; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=5-hydroxy-(6E,8Z,11Z,14Z)-eicosatetraenoate + ATP + CoA = 5-hydroxy-(6E,8Z,11Z,14Z)-eicosatetraenoyl-CoA + AMP + diphosphate; Xref=Rhea:RHEA:52108, ChEBI:CHEBI:30616, ChEBI:CHEBI:33019, ChEBI:CHEBI:57287, ChEBI:CHEBI:65341, ChEBI:CHEBI:136407, ChEBI:CHEBI:456215; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:52109; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=5,6-epoxy-(8Z,11Z,14Z)-eicosatrienoate + ATP + CoA = 5,6-epoxy-(8Z,11Z,14Z)-eicosatrienoyl-CoA + AMP + diphosphate; Xref=Rhea:RHEA:52088, ChEBI:CHEBI:30616, ChEBI:CHEBI:33019, ChEBI:CHEBI:57287, ChEBI:CHEBI:131992, ChEBI:CHEBI:136351, ChEBI:CHEBI:456215; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:52089; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=14,15-epoxy-(5Z,8Z,11Z)-eicosatrienoate + ATP + CoA = 14,15-epoxy-(5Z,8Z,11Z)-eicosatrienoyl-CoA + AMP + diphosphate; Xref=Rhea:RHEA:52016, ChEBI:CHEBI:30616, ChEBI:CHEBI:33019, ChEBI:CHEBI:57287, ChEBI:CHEBI:84024, ChEBI:CHEBI:136117, ChEBI:CHEBI:456215; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:52017; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=11,12-epoxy-(5Z,8Z,14Z)-eicosatrienoate + ATP + CoA = 11,12-epoxy-(5Z,8Z,14Z)-eicosatrienoyl-CoA + AMP + diphosphate; Xref=Rhea:RHEA:52012, ChEBI:CHEBI:30616, ChEBI:CHEBI:33019, ChEBI:CHEBI:57287, ChEBI:CHEBI:76625, ChEBI:CHEBI:136115, ChEBI:CHEBI:456215; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:52013; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=8,9-epoxy-(5Z,11Z,14Z)-eicosatrienoate + ATP + CoA = 8,9-epoxy-(5Z,11Z,14Z)-eicosatrienoyl-CoA + AMP + diphosphate; Xref=Rhea:RHEA:52008, ChEBI:CHEBI:30616, ChEBI:CHEBI:33019, ChEBI:CHEBI:57287, ChEBI:CHEBI:84025, ChEBI:CHEBI:136107, ChEBI:CHEBI:456215; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:52009; Evidence=. ;.
UniProtKB/Swiss-Prot EnzymeRegulation:
Both triacsin C and rosiglitazone inhibit arachidonoyl-CoA ligase activity.

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:0003996 acyl-CoA ligase activity IEA --
GO:0004467 long-chain fatty acid-CoA ligase activity IDA 10669417
GO:0005524 ATP binding IEA --
GO:0016874 ligase activity IEA --
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:
  • Acsl4 Acsl4<tm1a(EUCOMM)Wtsi>
  • Acsl4 Acsl4<tm1Tty>

Animal Model Products

CRISPR Products

miRNA for ACSL4 Gene

miRTarBase miRNAs that target ACSL4

Clone Products

No data available for Phenotypes From GWAS Catalog , 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. Cell membrane.

Subcellular locations from

COMPARTMENTS
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
plasma membrane 5
endoplasmic reticulum 5
mitochondrion 4
peroxisome 4
golgi apparatus 3
extracellular 1
nucleus 1
endosome 1
cytosol 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
  • Mitochondria (2)
See all subcellular structures

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:0007584 response to nutrient IEA --
GO:0015908 fatty acid transport 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

(13) 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, Channel blocker, Activator, Activation, Target, inhibitor Potent PPARγ agonist, Potent and selective PPARgamma agonist; antidiabetic agent. 224
Magnesium Approved, Experimental, Investigational Pharma 0
Palmitic Acid Approved Pharma Full agonist, Agonist 25
Phosphoric acid Approved Pharma 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(2E)-Decenoyl-CoA
  • (e)-S-2-Decenoate
  • (e)-S-2-Decenoate CoA
  • (e)-S-2-Decenoate coenzyme A
  • (e)-S-2-Decenoic acid
  • 2-trans-Decenoyl-CoA
10018-95-8
(2E)-Dodecenoyl-CoA
1066-12-2
(2E)-Hexadecenoyl-CoA
  • (e)-C16:1 N-14-CoA
  • (e)-Hexadec-2-enoyl-CoA tetraanion
  • (e)-Hexadec-2-enoyl-coenzyme A tetraanion
  • (e)-Hexadec-2-enoyl-coenzyme A(4-)
  • trans-2-Hexadecenoyl-CoA(4-)
4460-95-1
(2E)-Octenoyl-CoA
  • (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
10018-94-7
(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
  • trans-Tetra-dec-2-enoyl-coenzyme A.
38795-33-4
genes like me logo Genes that share compounds with ACSL4: view

Transcripts for ACSL4 Gene

CRISPR Products

Clone 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: - - -
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 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, MaxQB, and MOPED for ACSL4 Gene



Protein tissue co-expression partners for ACSL4 Gene

NURSA nuclear receptor signaling pathways regulating expression of ACSL4 Gene:

ACSL4

SOURCE GeneReport for Unigene cluster for ACSL4 Gene:

Hs.268785

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)

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

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
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
Thorax:
  • lung
  • rib
  • rib cage
Abdomen:
  • kidney
Pelvis:
  • pelvis
  • testicle
  • ureter
  • urinary bladder
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • 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

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
chimpanzee
(Pan troglodytes)
Mammalia ACSL4 33 32
  • 99.75 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ACSL4 33 32
  • 93.86 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ACSL4 33 32
  • 93.48 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Acsl4 17 33 32
  • 92.69 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ACSL4 33
  • 92 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ACSL4 33
  • 92 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Acsl4 32
  • 91 (n)
chicken
(Gallus gallus)
Aves ACSL4 33 32
  • 79.47 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ACSL4 33
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100494759 32
  • 76.42 (n)
zebrafish
(Danio rerio)
Actinopterygii acsl4a 33
  • 74 (a)
OneToMany
acsl4 32
  • 70.02 (n)
acsl4l 33
  • 68 (a)
OneToMany
-- 32
fruit fly
(Drosophila melanogaster)
Insecta Acsl 33
  • 46 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea acs-4 33 32
  • 53.24 (n)
ManyToMany
acs-17 33
  • 45 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes FAA4 35 33
  • 31 (a)
FAA3 33
  • 28 (a)
ManyToMany
FAA1 33
  • 28 (a)
ManyToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons LACS9 32
  • 53.33 (n)
rice
(Oryza sativa)
Liliopsida Os12g0168700 32
  • 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

ENSEMBL:
Gene Tree for ACSL4 (if available)
TreeFam:
Gene Tree for ACSL4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ACSL4: view image

Paralogs for ACSL4 Gene

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

  • ACSL4_HUMAN
  • D6RD96_HUMAN
  • D6RDA8_HUMAN
  • D6RF95_HUMAN
  • D6RFW9_HUMAN
  • H0Y9A0_HUMAN
  • Q5JWV8_HUMAN
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 Variation AA Info Type
rs122458138 pathogenic, Mental retardation 63, X-linked, Mental retardation, X-linked 63 (MRX63) [MIM:300387] 109,661,643(-) G/T coding_sequence_variant, missense_variant
rs122458139 pathogenic, Mental retardation 63, X-linked 109,674,403(-) G/A coding_sequence_variant, missense_variant
rs1556225792 uncertain-significance, Inborn genetic diseases, Mental retardation 63, X-linked 109,663,232(-) C/T coding_sequence_variant, missense_variant
rs1569423317 pathogenic, Mental retardation 63, X-linked 109,669,175(-) T/C splice_acceptor_variant
rs1569427252 uncertain-significance, History of neurodevelopmental disorder 109,678,308(-) T/G coding_sequence_variant, missense_variant

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)

Additional Variant Information for ACSL4 Gene

Human Gene Mutation Database (HGMD)
ACSL4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ACSL4

SNP Genotyping and Copy Number Assay Products

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

Disorders for ACSL4 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
x-linked non-specific intellectual disability
  • x-linked non-syndromic intellectual disability
stroke, ischemic
  • cerebrovascular accident
alport syndrome
  • thin membrane nephropathy
alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome
  • amme complex
syndromic x-linked intellectual disability
  • x-linked syndromic intellectual disability
- elite association - COSMIC cancer census association via MalaCards
Search ACSL4 in MalaCards View complete list of genes associated with diseases

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. {ECO:0000269 PubMed:9480748}. Note=The gene represented in this entry may be involved in disease pathogenesis.

Additional Disease Information for ACSL4

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
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 HR (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2004) 3 23 26 43 56
  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 23 56
  3. Fatty acid CoA ligase-4 gene polymorphism influences fatty acid metabolism in metabolic syndrome, but not in depression. (PMID: 19346733) Zeman M … Zák A (The Tohoku journal of experimental medicine 2009) 3 23 43 56
  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 (Neuroscience letters 2008) 3 23 43 56
  5. Localization of a non-syndromic X-linked mental retardation gene (MRX80) to Xq22-q24. (PMID: 12949969) Verot L … Edery P (American journal of medical genetics. Part A 2003) 2 3 23 56

Products for ACSL4 Gene

Sources for ACSL4 Gene