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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ACSL4 Gene

protein-coding   GIFtS: 68
GCID: GC0XM108872

acyl-CoA synthetase long-chain family member 4

(Previous names: fatty-acid-Coenzyme A ligase, long-chain 4, mental retardation,...)
(Previous symbols: FACL4, MRX63, MRX68)
 Explore 21 diseases affiliated with
ACSL4 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for ACSL4    

Aliases
for ACSL4 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Acyl-CoA Synthetase Long-Chain Family Member 41 2     LACS 42 3
ACS41 2 3 5     EC 6.2.1.33 8
FACL41 2 3 5     Mental Retardation, X-Linked 631
LACS41 2 3     Mental Retardation, X-Linked 681
MRX631 2 5     Acyl-CoA Synthetase 42
MRX681 2     Lignoceroyl-CoA Synthase2
Fatty-Acid-Coenzyme A Ligase, Long-Chain 41 2     Long-Chain Fatty-Acid-Coenzyme A Ligase 42
Long-Chain Acyl-CoA Synthetase 42 3     Long-Chain-Fatty-Acid--CoA Ligase 42

External Ids:    HGNC: 35711   Entrez Gene: 21822   Ensembl: ENSG000000683667   OMIM: 3001575   UniProtKB: O604883   

Export aliases for ACSL4 gene to outside databases

Previous GC identifers: GC0XM107649 GC0XM108690 GC0XM108771 GC0XM108884 GC0XM098507


Summaries
for ACSL4 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for ACSL4:
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)

UniProtKB/Swiss-Prot: ACSL4_HUMAN, O60488
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

Gene Wiki entry for ACSL4


Genomic Views
for ACSL4 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NC_018934.1  NT_011651.17  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ACSL4 gene promoter:
         Egr-3   SRF   USF1   SRF (504 AA)   AP-2gamma   LCR-F1   USF-1   AP-2beta   AP-2alpha   AP-2alphaA   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): ACSL4 promoter sequence
   Search SABiosciences Chromatin IP Primers for ACSL4

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ACSL4


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xq22.3-q23   Ensembl cytogenetic band:  Xq23   HGNC cytogenetic band: Xq22.3-q23

ACSL4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ACSL4 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM108872:  view genomic region     (about GC identifiers)

Start:
 108,872,579 bp from pter      End:
 108,976,632 bp from pter
Size:
 104,054 bases      Orientation:
 minus strand

Proteins
for ACSL4 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: ACSL4_HUMAN, O60488 (See protein sequence)
Recommended Name: Long-chain-fatty-acid--CoA ligase 4  
Size: 711 amino acids; 79188 Da
Cofactor: Magnesium (By similarity)
Subcellular location: Mitochondrion outer membrane; Single-pass type III membrane protein (By similarity). Peroxisome
membrane; Single-pass type III membrane protein (By similarity). Microsome membrane; Single-pass type III membrane
protein (By similarity). Endoplasmic reticulum membrane; Single-pass type III membrane protein (By similarity)
Secondary accessions: D3DUY2 O60848 O60849
Alternative splicing: 2 isoforms:  O60488-1   O60488-2   

Explore the universe of human proteins at neXtProt for ACSL4: NX_O60488

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O60488

    • 4/9 DME Specific Peptides for ACSL4 (O60488) (see all 9)
     TGRVGAPL  PLIDNICA  GCRIGYSSP  QPNGKVFKK 

    ACSL4 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_004449.1  NP_075266.1  

    ENSEMBL proteins: 
     ENSP00000262835   ENSP00000419171   ENSP00000423539   ENSP00000424808   ENSP00000425408  
     ENSP00000425378   ENSP00000421425   ENSP00000423077   ENSP00000339787  
    Reactome Protein details: O60488
    Human Recombinant Protein Products: 
    Browse Purified and Recombinant Proteins at EMD Millipore
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    OriGene Purified Proteins (see all 2): ACSL4
    OriGene Protein Over-expression Lysate (see all 3): ACSL4
    OriGene Custom Protein Services for ACSL4 
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    Novus Biologicals ACSL4 Proteins
    Novus Biologicals ACSL4 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for ACSL4

    Gene Ontology (GO): 5/12 cellular component terms (GO ID links to tree view) (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA11889465
    GO:0005739mitochondrion ----
    GO:0005741mitochondrial outer membrane IEA--
    GO:0005777peroxisome ----
    GO:0005778peroxisomal membrane IEA--


    ACSL4 for ontologies           About GeneDecksing



    ACSL4 Antibody Products: 
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    ThermoFisher Antibodies for ACSL4

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    Uscn ELISAs and CLIAs for ACSL4

    Protein Domains /
    Families
    for ACSL4 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    ACSL4 for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR000873 AMP-dep_Synth/Lig
     IPR020845 AMP-binding_CS

    Graphical View of Domain Structure for InterPro Entry O60488

    ProtoNet protein and cluster: O60488

    1 Blocks protein family: IPB000873 AMP-binding signature

    UniProtKB/Swiss-Prot: ACSL4_HUMAN, O60488
    Similarity: Belongs to the ATP-dependent AMP-binding enzyme family


    Function
    for ACSL4 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: ACSL4_HUMAN, O60488
    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
    Catalytic activity: ATP + a long-chain fatty acid + CoA = AMP + diphosphate + an acyl-CoA

    Enzyme Number (IUBMB): EC 6.2.1.31 2

    miRNA
    Products:            		 OriGene 3'-UTR Clone (see all 2): ACSL4
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ACSL4
    8/88 QIAGEN miScript miRNA Assays for microRNAs that regulate ACSL4 (see all 88):
    hsa-miR-15a hsa-miR-106a hsa-miR-374a hsa-miR-3653 hsa-miR-519a hsa-miR-93 hsa-miR-3613-3p hsa-miR-130b
    SwitchGear 3'UTR luciferase reporter plasmid: ACSL4 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ACSL4 (see all 7)
    OriGene shRNA RFP: ACSL4
    OriGene siRNA: ACSL4
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ACSL4

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for ACSL4

    Clone
    Products:             		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ACSL4 (see all 5)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ACSL4 (see all 2)
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector (see all 2): ACSL4 (NM_022977)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ACSL4
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ACSL4 

    Cell Line
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    Search LifeMap BioReagents cell lines for ACSL4

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACSL4

    Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004467long-chain fatty acid-CoA ligase activity IDA10669417
    GO:0005524ATP binding IEA--
    GO:0031957very long-chain fatty acid-CoA ligase activity IMP11889465
    GO:0047676arachidonate-CoA ligase activity IDA9598324


    ACSL4 for ontologies           About GeneDecksing


    3 GenomeRNAi human phenotypes for ACSL4:
     Metaphase cells  Synthetic lethal with Ras  Upregulation of Wnt/beta-caten 

    Animal Models:
         Mouse knock-out Acsl4tm1Tty for ACSL4
         9 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Acsl4):
     cardiovascular system  endocrine/exocrine gland  growth/size  hearing/vestibular/ear  hematopoietic system 
     homeostasis/metabolism  mortality/aging  normal  reproductive system 

    ACSL4 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for ACSL4 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/8 super-pathways (see all 8) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Metabolism
    		Metabolism1.00
    		Metabolism of lipids and lipoproteins0.34
    		Metabolic pathways0.38
    2Fatty Acid Beta Oxidation
    		Fatty Acid Beta Oxidation1.00
    		Fatty acid metabolism0.32
    		Mitochondrial LC-Fatty Acid Beta-Oxidation0.35
    3Fatty Acyl-CoA Biosynthesis
    		Fatty Acyl-CoA Biosynthesis1.00
    		Triglyceride Biosynthesis0.47
    		Synthesis of very long-chain fatty acyl-CoAs0.78
    4Fatty Acid Biosynthesis
    		Fatty Acid Biosynthesis1.00
    5Peroxisome
    		Peroxisome1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    3 BioSystems Pathways for ACSL4 
        Fatty Acid Beta Oxidation
    Fatty Acid Biosynthesis
    Mitochondrial LC-Fatty Acid Beta-Oxidation

    5/6        Reactome Pathways for ACSL4 (see all 6)
        Metabolism
    Synthesis of very long-chain fatty acyl-CoAs
    Triglyceride Biosynthesis
    Fatty Acyl-CoA Biosynthesis
    Fatty acid, triacylglycerol, and ketone body metabolism


    5         Kegg Pathways  (Kegg details for ACSL4):
        Fatty acid metabolism
    Metabolic pathways
    PPAR signaling pathway
    Peroxisome
    Adipocytokine signaling pathway


    ACSL4 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ACSL4

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/69 Interacting proteins for ACSL4 (O604882, 3 ENSP000003397874) via UniProtKB, MINT, STRING, and/or I2D (see all 69)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    YWHAZP631042, 3MINT-3304385 I2D: score=1 
    SPG20Q8N0X73, ENSP000003473144I2D: score=2 STRING: ENSP00000347314
    ENSG00000258947Q135093I2D: score=1 
    NMT1P304193, ENSP000002589604I2D: score=1 STRING: ENSP00000258960
    SCDO007673, ENSP000003593804I2D: score=1 STRING: ENSP00000359380
    About this table

    Gene Ontology (GO): 5/15 biological process terms (GO ID links to tree view) (see all 15):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001676long-chain fatty acid metabolic process IDA--
    GO:0006629lipid metabolic process IDA9598324
    GO:0006631fatty acid metabolic process ----
    GO:0007584response to nutrient IEA--
    GO:0008610lipid biosynthetic process IDA--


    ACSL4 for ontologies           About GeneDecksing



    Drugs & Compounds
    for ACSL4 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    ACSL4 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ACSL4

    10/41 HMDB Compounds for ACSL4 (see all 41)    About this table
    CompoundSynonyms CAS #PubMed Ids
    (2E)-Decenoyl-CoA(E)-S-2-decenoate Coenzyme A (see all 15)10018-95-8--
    (2E)-Dodecenoyl-CoA2-trans-Dodecenoyl-Coenzyme A (see all 4)1066-12-2--
    (2E)-Hexadecenoyl-CoAtrans-2-Hexadecenoyl-CoA (see all 4)4460-95-1--
    (2E)-Octenoyl-CoA(E)-S-2-octenoate Coenzyme A (see all 16)10018-94-7--
    (2E)-Tetradecenoyl-CoA(2E)-Tetradecenoyl-Coenzyme A (see all 8)38795-33-4--
    2-Methylbutyryl-CoA2-methylbutanoyl-CoA (see all 11)6712-02-3--
    2-Methylhexanoyl-CoA2-Methylhexanoyl-CoEnzyme A (see all 5)----
    20-COOH-leukotriene E420-COOH-LTE4 (see all 3)----
    3Z-dodecenoyl-CoAS-[2-[3-[[(2R)-4-[[[(2R,3R,5R)-5-(6-aminopurin-9-yl)-4-hydroxy-3-phosphonooxyoxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-hydroxyphosphoryl]oxy-2-hydroxy-3,3-dimethylbutanoyl]amino]propanoylamino]ethyl] (Z)-dodec-3-enethioate (see all 4)2152-91-2--
    6,9,12,15,18,21-Tetracosahexaenoic acidall-cis-6,9,12,15,18,21-tetracosahexaenoate (see all 8)----

    3 DrugBank Compounds for ACSL4    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Troglitazone-- 97322-87-7targetinhibitor11319222 12147264 11319232
    IcosapentEicosapentaenoic acid (see all 4)10417-94-4targetinducer15108178 12784866
    RosiglitazoneRosigliazone maleate (see all 2)122320-73-4targetinhibitor17259370

    5 Novoseek chemical compound relationships for ACSL4 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    acyl-coa 78.3 16 9480748 (3), 11485311 (1), 15108178 (1), 15794766 (1) (see all 9)
    arachidonic acid 66.9 28 15108178 (3), 10924347 (3), 11005842 (2), 15794766 (2) (see all 10)
    fatty acid 45.1 1 11889465 (1)
    acth 33.2 4 10924347 (2), 16630718 (1), 15956337 (1)
    steroid 28.3 2 15794766 (1), 20360933 (1)

    Search CenterWatch for drugs/clinical trials and news about ACSL4 

    Transcripts
    for ACSL4 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for ACSL4 gene (2 alternative transcripts): 
    NM_004458.2  NM_022977.2  

    Unigene Cluster for ACSL4:

    Acyl-CoA synthetase long-chain family member 4
    Hs.268785  [show with all ESTs]
    Unigene Representative Sequence: NM_022977
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000505075 ENST00000348502(uc004eoj.2) ENST00000469796 ENST00000514500
    ENST00000505855 ENST00000502391 ENST00000508092 ENST00000504980 ENST00000469857
    ENST00000504383 ENST00000340800(uc004eoi.2 uc004eok.2 uc010npp.1)


    miRNA
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    8/88 QIAGEN miScript miRNA Assays for microRNAs that regulate ACSL4 (see all 88):
    hsa-miR-15a hsa-miR-106a hsa-miR-374a hsa-miR-3653 hsa-miR-519a hsa-miR-93 hsa-miR-3613-3p hsa-miR-130b
    SwitchGear 3'UTR luciferase reporter plasmid: ACSL4 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ACSL4 (see all 7)
    OriGene shRNA RFP: ACSL4
    OriGene siRNA: ACSL4
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ACSL4
    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 2): ACSL4 (NM_022977)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ACSL4 
    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ACSL4
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ACSL4

    Additional cDNA sequence: 

    AB061713.1 AB061714.1 AF030555.1 AK054631.1 AK292070.1 AK294197.1 AK294915.1 AK307566.1 
    BC034959.2 Y12777.1 Y13058.1 

    15 DOTS entries:

    DT.317429  DT.99998784  DT.92436948  DT.100814367  DT.105846  DT.121301757  DT.100802668  DT.121301738 
    DT.121301650  DT.121301752  DT.100814371  DT.121301762  DT.40117087  DT.91830694  DT.92436949 

    24/231 AceView cDNA sequences (see all 231):

    Z43734 BM800997 AI540829 AA633818 AL550201 CA450610 BM452675 AI610538 
    BM977314 BM930104 AA831304 AW089807 AI359286 AA251792 BM684738 BQ008315 
    BU634080 AI269401 Z39796 CR603171 AL705114 CB159241 BQ050038 BM974237 

    GeneLoc Exon Structure

    5/7 Alternative Splicing Database (ASD) splice patterns (SP) for ACSL4 (see all 7)    About this scheme

    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:                                      -     -                                                                                                               

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


    ECgene alternative splicing isoforms for ACSL4

    Expression
    for ACSL4 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ACSL4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TTATCAAAAA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    ACSL4 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    4 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Spinal CordSpinal Ventral ColumnsVentral Spinal Cord Progenitor CellsMotor Neurons
    EyeInner Nuclear LayerEye
    EyeOuter Nuclear LayerEye
    Spinal CordSpinal Ventral ColumnsSpinal Cord
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See ACSL4 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ACSL4

    SOURCE GeneReport for Unigene cluster: Hs.268785
        SABiosciences Expression via Pathway-Focused PCR Arrays including ACSL4 (see all 6): 
              Fatty Acid Metabolism in human mouse rat
              Insulin Resistance in human mouse rat
              Cancer PathwayFinder in human mouse rat
              Signal Transduction PathwayFinder in human mouse rat
              Drug Metabolism: Phase II Enzymes in human mouse rat

    Primer
    Products:    		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ACSL4
    Browse OriGene validated miRNA SYBR primer pairs
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    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACSL4

    Orthologs
    for ACSL4 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of eukaryotes.

    Orthologs for ACSL4 gene from 8/26 species (see all 26)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves ACSL41 acyl-CoA synthetase long-chain family member 4 79.3(n)
    86.72(a)    		   422345  XM_420317.3  XP_420317.2 
    lizard
    (Anolis carolinensis)    		 Reptilia ACSL46
    		 --
    		 82(a)
    		 1 ↔ 1
    		 GL343202.1(4353104-4371394)
    zebrafish
    (Danio rerio)    		 Actinopterygii BC057476.12   -- 76.81(n)   393622  BC057476.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta Acsl6
    		 Acyl-CoA synthetase long-chain
    		 45(a)
    		 1 → many
    		 2R(4553318-4570527)
    worm
    (Caenorhabditis elegans)    		 Secernentea acs-41 Protein ACS-4 53.24(n)
    46.61(a)    		   176005  NM_066167.4  NP_498568.1 
    baker's yeast
    (Saccharomyces cerevisiae)    		 Saccharomycetes FAA4(YMR246W)4
    FAA41    		 Long chain fatty acyl-CoA synthetase, activates imported more4
    Faa4p1    		 46.19(n)1
    34.85(a)1    		   13(759807-761891)4
    8552881, 4  NP_013974.11, 4 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons LACS91 long chain acyl-CoA synthetase 9 51.74(n)
    46.54(a)    		   844094  NM_106407.6  NP_177882.1 
    rice
    (Oryza sativa)    		 Liliopsida Os12g01687001 hypothetical protein 54.08(n)
    49.7(a)    		   4351610  NM_001072788.1  NP_001066256.1 


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

    Paralogs
    for ACSL4 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ACSL4 gene
    ACSBG12  ACSL32  ACSL62  ACSBG22  ACSL12  ACSL52  
    6 SIMAP similar genes for ACSL4 using alignment to 7 protein entries:     ACSL4_HUMAN (see all proteins):
    FACL4    ACSL3    ACSL5    ACSL6    FACL5    ACSL1

    ACSL4 for paralogs           About GeneDecksing



    Genomic Variants
    for ACSL4 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/904 NCBI SNPs in ACSL4 are shown (see all 904)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr X posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1475476861,2
    		--108884436(+) AAGCCA/GGTTTA 2 -- ds50010--------
    rs792654061,2
    		F--108884800(+) CCTTAG/AAAACA 2 -- ut311Minor allele frequency- A:0.33NA 6
    rs1378816871,2
    		--108885177(+) ATATGG/TAAAGA 2 -- ut310--------
    rs1868241921,2
    		--108885209(+) ATTTTC/TAGATG 2 -- ut310--------
    rs559425371,2
    		C--108885387(+) CAAATA/GTCTGA 2 -- ut310--------
    rs115520881,2
    		C--108885463(-) GACTTC/TTCCAA 2 -- ut310--------
    rs1915557891,2
    		--108885533(+) TACTTC/GATAAT 2 -- ut310--------
    rs559556201,2
    		C,--108885899(+) TTTTAC/TAGTAA 2 -- ut310--------
    rs1816171701,2
    		--108885907(+) TAACTA/GTGGTT 2 -- ut310--------
    rs1853980011,2
    		--108886012(+) CCCTTA/GTCAAG 2 -- ut310--------

    HapMap Linkage Disequilibrium report for ACSL4 (108872579 - 108976632 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 5 variations for ACSL4
         3 CNVs: 96890 1862 4163
         2 Indels: 96891 83677
    Human Gene Mutation Database (HGMD): ACSL4

    Locus Specific Mutation Databases (LSDB): ACSL4

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ACSL4
    DNA2.0 Custom Variant and Variant Library Synthesis for ACSL4

    Disorders / Diseases
    for ACSL4 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    ACSL4 for disorders           About GeneDecksing

    OMIM gene information: 300157   
    OMIM disorders: 300387  
    UniProtKB/Swiss-Prot: ACSL4_HUMAN, O60488
  • Defects in ACSL4 are the cause of mental retardation X-linked type 63 (MRX63) [MIM:300387]. Mental retardation
    • is a mental disorder characterized by significantly sub-average general intellectual functioning associated with
    impairments in adaptative behavior and manifested during the developmental period. Non-syndromic mental retardation
    patients do not manifest other clinical signs
  • Defects in ACSL4 are involved in Alport syndrome with mental retardation midface hypoplasia and elliptocytosis
    • (ATS-MR) [MIM:300194]. A X-linked contiguous gene deletion syndrome characterized by glomerulonephritis, deafness,
    mental retardation, midface hypoplasia and elliptocytosis

    20/21 diseases for ACSL4 (see all 21):    About MalaCards
    mental retardation, x-linked    mental retardation, x-linked nonspecific, 63    mental retardation, x-linked, nonspecific    alport syndrome
    alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis    elliptocytosis    autism spectrum disorder    intellectual disability
    insulin resistance    colon adenocarcinoma    mental disorders    hepatocellular carcinoma
    hypotonia    adenocarcinoma    schizophrenia    nephropathy
    prostate cancer    carcinoma    prostatitis    hepatitis

    2 diseases from the University of Copenhagen DISEASES database for ACSL4:
    Intellectual disability     Alport syndrome

    10/11 Novoseek disease relationships for ACSL4 gene (see all 11)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    alports syndrome 77.1 3 9480748 (1), 20186809 (1), 12525535 (1)
    elliptocytosis hereditary 70 1 9480748 (1)
    mental retardation 59.5 15 18614287 (4), 11889465 (3), 12525535 (2), 9480748 (1) (see all 7)
    colon adenocarcinoma 56.4 2 12824887 (1), 11731423 (1)
    hepatocellular carcinoma 28.2 5 18059177 (1), 12824887 (1), 15849811 (1), 17934335 (1)
    colon cancer 26.7 3 15849811 (1), 11731423 (1)
    adenoma 14.5 4 11731423 (1)
    schizophrenia 1.56 1 15108178 (1)
    adenocarcinoma 0.199 3 11731423 (2)
    tumors 0 4 12824887 (1), 11731423 (1), 10924347 (1), 20360933 (1)

    Genetic Association Database (GAD): ACSL4
    Human Genome Epidemiology (HuGE) Navigator: ACSL4 (7 documents)

    Export disorders for ACSL4 gene to outside databases

    Publications
    for ACSL4 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for ACSL4 gene, integrated from 9 sources (see all 69):
    (articles sorted by number of sources associating them with ACSL4)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Association of a long-chain fatty acid-CoA ligase 4 gene polymorphism with depression and with enhanced niacin-induced dermal erythema. (PubMed id 15108178)1, 4, 7, 9 Covault J....Kranzler H.R. (2004)
    2. FACL4, a new gene encoding long-chain acyl-CoA synthetase 4, is deleted in a family with Alport syndrome, elliptocytosis, and mental retardation. (PubMed id 9480748)1, 2, 3, 9 Piccini M....Renieri A. (1998)
    3. Cloning, expression, and chromosomal localization of human long-chain fatty acid-CoA ligase 4 (FACL4). (PubMed id 9598324)1, 2, 9 Cao Y.... Prescott S.M. (1998)
    4. FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X- linked mental retardation. (PubMed id 11889465)1, 2, 9 Meloni I.... Renieri A. (2002)
    5. Localization of a non-syndromic X-linked mental retardation gene (MRX80) to Xq22-q24. (PubMed id 12949969)1, 3, 9 Verot L....Edery P. (2003)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    7. Regulation of cell growth by fatty acid-CoA ligase 4 in human hepatocellular carcinoma cells. (PubMed id 17934335)1, 9 Sung Y.K....Kim M.K. (2007)
    8. Fatty acid CoA ligase 4 is up-regulated in colon adenocarcinoma. (PubMed id 11731423)1, 9 Cao Y....Prescott S.M. (2001)
    9. Involvement of fatty acid-CoA ligase 4 in hepatocellular carcinoma growth: roles of cyclic AMP and p38 mitogen-activated protein kinase. (PubMed id 15849811)1, 9 Liang Y.C....Lin S.Y. (2005)
    10. Fatty acid-CoA ligase 4 is overexpressed in human hepatocellular carcinoma. (PubMed id 12824887)1, 9 Sung Y.K....Kim M. (2003)

    External Searches for ACSL4 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing ACSL4 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 2182 HGNC: 3571 AceView: ACSL4 Ensembl:ENSG00000068366 euGenes: HUgn2182
    ECgene: ACSL4 Kegg: 2182 H-InvDB: ACSL4

    Other Databases showing ACSL4 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing ACSL4 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for ACSL4 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ACSL4

    Intellectual Property
    for ACSL4 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for ACSL4 gene:
    Search GeneIP for patents involving ACSL4

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    Products
    for ACSL4 gene

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    About This Section

     
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