Aliases for ACSL4 Gene
Aliases for ACSL4 Gene
External Ids for ACSL4 Gene
- HGNC: 3571
- Entrez Gene: 2182
- Ensembl: ENSG00000068366
- OMIM: 300157
- UniProtKB: O60488
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
-
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.
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 ENSG00000252069 GC0XM109745 |
| 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
- Transcription factor binding sites by QIAGEN in the ACSL4 gene promoter:
Regulatory Element Products
Genomic Location for ACSL4 Gene
- Chromosome:
- X
- 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
Genes around ACSL4 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- Xq23 by Ensembl
- Xq23 by Entrez Gene
- Xq23 by HGNC
ACSL4 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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
Protein Expression 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
Other Protein References for ACSL4 Gene
Antibody Products
- Novus Biologicals Antibodies for ACSL4
- Invitrogen Antibodies for ACSL4
- antibodies-online Antibodies for ACSL4: See all 78
- GeneTex ACSL4 antibody for ACSL4
-
Santa Cruz Biotechnology (SCBT) Antibodies for ACSL4
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for ACSL4
- Origene Custom Protein Services for ACSL4
- antibodies-online Proteins for ACSL4: See all 9
- Search antibodies-online for peptides
- Search GeneTex for Proteins for ACSL4
Assay Products
Domains & Families for ACSL4 Gene
Gene Families for ACSL4 Gene
Protein Domains for ACSL4 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for ACSL4 Gene
Graphical View of Domain Structure for InterPro Entry
O60488- Family:
-
- Belongs to the ATP-dependent AMP-binding enzyme family.
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
| 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 |
Phenotypes for ACSL4 Gene
- MGI mutant phenotypes for ACSL4:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for ACSL4:
-
- Increased vaccinia virus (VACV) infection
- shRNA abundance <= 50%
- Synthetic lethal with Ras
- Lamellipodia cells
- Decreased viability in esophageal squamous lineage
- Increased shRNA abundance (Z-score > 2)
- Decreased shRNA abundance
- Decreased shRNA abundance (Z-score < -2)
- Increased shRNA abundance
- Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for ACSL4
-
-
ViGene Biosciences lentiviral particle packaged cDNA for ACSL4 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for ACSL4 gene
- Search ViGene Biosciences for ACSL4
CRISPR Products
-
OriGene CRISPR knockouts for ACSL4
-
Santa Cruz Biotechnology (SCBT) CRISPR for ACSL4
- GenScript: Design CRISPR guide RNA sequences for ACSL4
miRNA for ACSL4 Gene
- miRTarBase miRNAs that target ACSL4
-
- hsa-mir-375 (MIRT020060)
- hsa-mir-34a-5p (MIRT025215)
- hsa-mir-30a-5p (MIRT028658)
- hsa-mir-378a-3p (MIRT043925)
- hsa-mir-205-5p (MIRT054569)
- hsa-mir-129-5p (MIRT108438)
- hsa-mir-200b-3p (MIRT108446)
- hsa-mir-200c-3p (MIRT108447)
- hsa-mir-429 (MIRT108448)
- hsa-mir-507 (MIRT108449)
- hsa-mir-557 (MIRT108450)
- hsa-mir-190a-3p (MIRT124869)
- hsa-mir-5011-5p (MIRT124873)
- hsa-mir-450b-5p (MIRT175287)
- hsa-mir-4789-3p (MIRT175300)
- hsa-mir-448 (MIRT175328)
- hsa-mir-8084 (MIRT175377)
- hsa-mir-17-5p (MIRT175378)
- hsa-mir-20a-5p (MIRT175379)
- hsa-mir-93-5p (MIRT175380)
- hsa-mir-106a-5p (MIRT175381)
- hsa-mir-106b-5p (MIRT175384)
- hsa-mir-20b-5p (MIRT175396)
- hsa-mir-519c-3p (MIRT175400)
- hsa-mir-526b-3p (MIRT175402)
- hsa-mir-519b-3p (MIRT175403)
- hsa-mir-519d-3p (MIRT175406)
- hsa-mir-519a-3p (MIRT175408)
- hsa-mir-548t-5p (MIRT175420)
- hsa-mir-4477a (MIRT175430)
- hsa-mir-548az-5p (MIRT175442)
- hsa-mir-142-3p (MIRT441285)
- ebv-mir-bart10-3p (MIRT441286)
- hsa-mir-578 (MIRT444489)
- hsa-mir-1298-5p (MIRT444490)
- hsa-mir-374b-5p (MIRT444491)
- hsa-mir-374a-5p (MIRT444492)
- hsa-mir-5692c (MIRT444493)
- hsa-mir-5692b (MIRT444494)
- hsa-mir-369-3p (MIRT444495)
- hsa-mir-3680-3p (MIRT549440)
- hsa-mir-3658 (MIRT549441)
- hsa-mir-33b-5p (MIRT549442)
- hsa-mir-33a-5p (MIRT549443)
- hsa-mir-527 (MIRT549444)
- hsa-mir-518a-5p (MIRT549445)
- hsa-mir-3653-3p (MIRT549446)
- hsa-mir-16-1-3p (MIRT549447)
- hsa-mir-586 (MIRT549448)
- hsa-mir-410-3p (MIRT549449)
- hsa-mir-3163 (MIRT549450)
- hsa-mir-8485 (MIRT549451)
- hsa-mir-580-5p (MIRT549452)
- hsa-mir-6507-5p (MIRT549453)
- hsa-mir-212-3p (MIRT549454)
- hsa-mir-132-3p (MIRT549455)
- hsa-mir-186-5p (MIRT549456)
- hsa-mir-3662 (MIRT549457)
- hsa-mir-301b-3p (MIRT549458)
- hsa-mir-130b-3p (MIRT549459)
- hsa-mir-130a-3p (MIRT549460)
- hsa-mir-4295 (MIRT549461)
- hsa-mir-301a-3p (MIRT549462)
- hsa-mir-454-3p (MIRT549463)
- hsa-mir-3666 (MIRT549464)
- hsa-mir-19b-3p (MIRT549465)
- hsa-mir-19a-3p (MIRT549466)
- hsa-mir-144-3p (MIRT549467)
miRNA Products
- Search ViGene Biosciences for ACSL4
Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for ACSL4
- Browse OriGene Inhibitory RNA Products For ACSL4
-
ViGene Biosciences ready-to-package AAV shRNAs for ACSL4 gene
Clone Products
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for ACSL4
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for ACSL4
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Cell Line Products
-
Horizon Cell Lines for ACSL4
-
ViGene Biosciences adenoviral particle packaged cDNA for ACSL4 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for ACSL4 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for ACSL4 gene
Flow Cytometry 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.
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| endoplasmic reticulum | 5 |
| mitochondrion | 4 |
| peroxisome | 4 |
| golgi apparatus | 3 |
| plasma membrane | 1 |
| cytosol | 1 |
| endosome | 1 |
| 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 | -- |
Pathways & Interactions for ACSL4 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Metabolism |
.37
|
|
| 2 | Fatty Acyl-CoA Biosynthesis | ||
| 3 | Fatty acid metabolism | ||
| 4 | Mitochondrial LC-Fatty Acid Beta-Oxidation | ||
| 5 | Adipocytokine signaling pathway | ||
Pathways by source for ACSL4 Gene
3 BioSystems pathways for ACSL4 Gene
8 KEGG pathways for ACSL4 Gene
Interacting Proteins for ACSL4 Gene
Selected Interacting proteins:
ENSP00000339787
O60488-ACSL4_HUMAN
for ACSL4 Gene via
STRING
MINT
IID
| 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 | -- |
No data available for SIGNOR curated interactions for ACSL4 Gene
Drugs & Compounds for ACSL4 Gene
| 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 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| (2E)-Decenoyl-CoA |
|
10018-95-8 |
|
|||
| (2E)-Dodecenoyl-CoA |
|
1066-12-2 |
|
|||
| (2E)-Hexadecenoyl-CoA |
|
4460-95-1 |
|
|||
| (2E)-Octenoyl-CoA |
|
10018-94-7 |
|
|||
| (2E)-Tetradecenoyl-CoA |
|
38795-33-4 |
|
Transcripts for ACSL4 Gene
mRNA/cDNA for ACSL4 Gene
- (8) REFSEQ mRNAs :
- (11) Additional mRNA sequences :
- (231) Selected AceView cDNA sequences:
- (12) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for ACSL4 Gene
CRISPR Products
-
OriGene CRISPR knockouts for ACSL4
-
Santa Cruz Biotechnology (SCBT) CRISPR for ACSL4
- GenScript: Design CRISPR guide RNA sequences for ACSL4
miRNA Products
- Search ViGene Biosciences for ACSL4
Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for ACSL4
- Browse OriGene Inhibitory RNA Products For ACSL4
-
ViGene Biosciences ready-to-package AAV shRNAs for ACSL4 gene
Clone Products
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for ACSL4
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for ACSL4
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Flow Cytometry Products
| 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: |
Expression 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
NURSA nuclear receptor signaling pathways regulating expression of ACSL4 Gene:
ACSL4SOURCE GeneReport for Unigene cluster for ACSL4 Gene:
Hs.268785Evidence 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
Systems:
- cardiovascular
- digestive
- immune
- integumentary
- nervous
- reproductive
- respiratory
- skeletal muscle
- skeleton
- urinary
Organs:
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
Primer Products
-
OriGene qPCR primer pairs and template standards for ACSL4
-
OriGene qPCR primer pairs for ACSL4
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | ACSL4 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | ACSL4 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | ACSL4 34 35 |
|
||
| mouse (Mus musculus) |
Mammalia | Acsl4 34 16 35 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | ACSL4 35 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | ACSL4 35 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Acsl4 34 |
|
||
| chicken (Gallus gallus) |
Aves | ACSL4 34 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | ACSL4 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | LOC100494759 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | acsl4a 35 |
|
OneToMany | |
| acsl4 34 |
|
||||
| acsl4l 35 |
|
OneToMany | |||
| -- 34 |
|
||||
| fruit fly (Drosophila melanogaster) |
Insecta | Acsl 35 |
|
OneToMany | |
| worm (Caenorhabditis elegans) |
Secernentea | acs-4 34 35 |
|
||
| acs-17 35 |
|
ManyToMany | |||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | FAA4 35 37 |
|
ManyToMany | |
| FAA1 35 |
|
ManyToMany | |||
| FAA3 35 |
|
ManyToMany | |||
| thale cress (Arabidopsis thaliana) |
eudicotyledons | LACS9 34 |
|
||
| rice (Oryza sativa) |
Liliopsida | Os12g0168700 34 |
|
- 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)
Paralogs for ACSL4 Gene
(6) SIMAP similar genes for ACSL4 Gene using alignment to 7 proteins:
Variants 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 |
| 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 |
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
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ACSL4 Gene
Disorders for ACSL4 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| non-syndromic x-linked intellectual disability |
|
|
| alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis |
|
|
| alport syndrome |
|
|
| colon adenocarcinoma |
|
|
| syndromic x-linked intellectual disability |
|
|
Search ACSL4 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
ACSL4_HUMAN- 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
No data available for Genatlas for ACSL4 Gene
Publications for ACSL4 Gene
- 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
- 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
- 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
- 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
- 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
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- Mammalian expression: PiggyBac
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- Yeast expression
Sources for ACSL4 Gene
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