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ACOX1 Gene

protein-coding   GIFtS: 68
GCID: GC17M073937

Acyl-CoA Oxidase 1, Palmitoyl

(Previous names: acyl-Coenzyme A oxidase 1, palmitoyl)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Acyl-CoA Oxidase 1, Palmitoyl1 2     AOX2 3
ACOX2 3 5     EC 1.3.3.63 8
SCOX2 3 5     PALMCOX2
Acyl-Coenzyme A Oxidase 1, Palmitoyl1 2     Acyl-CoA Oxidase, Straight-Chain2
Palmitoyl-CoA Oxidase2 3     Peroxisomal Acyl-Coenzyme A Oxidase 12
Straight-Chain Acyl-CoA Oxidase2 3     Peroxisomal Fatty Acyl-CoA Oxidase2

External Ids:    HGNC: 1191   Entrez Gene: 512   Ensembl: ENSG000001615337   OMIM: 6097515   UniProtKB: Q150673   

Export aliases for ACOX1 gene to outside databases

Previous GC identifers: GC17P073433 GC17M076968 GC17M074401 GC17M074538 GC17M071453 GC17M069363


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for ACOX1 Gene:
The protein encoded by this gene is the first enzyme of the fatty acid beta-oxidation pathway, which catalyzes the
desaturation of acyl-CoAs to 2-trans-enoyl-CoAs. It donates electrons directly to molecular oxygen, thereby
producing hydrogen peroxide. Defects in this gene result in pseudoneonatal adrenoleukodystrophy, a disease that
is characterized by accumulation of very long chain fatty acids. Alternatively spliced transcript variants
encoding different isoforms have been identified. (provided by RefSeq, Jul 2008)

GeneCards Summary for ACOX1 Gene:
ACOX1 (acyl-CoA oxidase 1, palmitoyl) is a protein-coding gene. Diseases associated with ACOX1 include pseudoneonatal adrenoleukodystrophy, and peroxisomal acyl-coa oxidase deficiency. GO annotations related to this gene include flavin adenine dinucleotide binding and receptor binding. An important paralog of this gene is ACOX2.

UniProtKB/Swiss-Prot: ACOX1_HUMAN, Q15067
Function: Catalyzes the desaturation of acyl-CoAs to 2-trans-enoyl-CoAs. Isoform 1 shows highest activity against
medium-chain fatty acyl-CoAs and activity decreases with increasing chain length. Isoform 2 is active against a
much broader range of substrates and shows activity towards very long-chain acyl-CoAs. Isoform 2 is twice as
active as isoform 1 against 16-hydroxy-palmitoyl-CoA and is 25% more active against 1,16-hexadecanodioyl-CoA

Gene Wiki entry for ACOX1 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000017.11  NC_018928.2  NT_010783.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the ACOX1 gene promoter:
         AML1a   Gfi-1   GATA-1   CRE-BP1   Egr-2   PPAR-alpha   PPAR-gamma1   PPAR-gamma2   En-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): ACOX1 promoter sequence
   Search Chromatin IP Primers for ACOX1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ACOX1


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

Entrez Gene cytogenetic band: 17q25.1   Ensembl cytogenetic band:  17q25.1   HGNC cytogenetic band: 17q25.1

ACOX1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ACOX1 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M073937:  view genomic region     (about GC identifiers)

Start:
73,937,588 bp from pter      End:
73,975,515 bp from pter
Size:
37,928 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: ACOX1_HUMAN, Q15067 (See protein sequence)
Recommended Name: Peroxisomal acyl-coenzyme A oxidase 1  
Size: 660 amino acids; 74424 Da
Cofactor: FAD
Miscellaneous: Isoform 1 and isoform 2 can reverse the Acox1 null phenotype in mouse which is characterized by
severe microvesicular hepatic steatosis, sustained activation of Ppara, spontaneous massive peroxisome
proliferation and eventual development of hepatocellular carcinomas. Isoform 2 is more effective in reversal of
the phenotype than isoform 1 (PubMed:20195242)
Sequence caution: Sequence=CAD97622.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: A8K6X8 A8KAA0 B4DK61 F5GYQ8 Q12863 Q15068 Q15101 Q16131 Q7Z3W5 Q9UD31
Alternative splicing: 3 isoforms:  Q15067-1   Q15067-2   Q15067-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ACOX1: NX_Q15067

Explore proteomics data for ACOX1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for ACOX1 (Q15067) (see all 11)
     GLETTAT  DPDFQHE  DNGYLKMDN  TRRRREIEN 


    See ACOX1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001171968.1  NP_004026.2  NP_009223.2  

    ENSEMBL proteins: 
     ENSP00000293217   ENSP00000468651   ENSP00000466921   ENSP00000459936   ENSP00000458325  
     ENSP00000301608   ENSP00000466210   ENSP00000468435   ENSP00000461486   ENSP00000441257  

    ACOX1 Human Recombinant Protein Products:

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    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec
    OriGene Custom Protein Services for ACOX1
    GenScript Custom Purified and Recombinant Proteins Services for ACOX1
    Novus Biologicals ACOX1 Protein
    Novus Biologicals ACOX1 Lysate
    Sino Biological Recombinant Protein for ACOX1
    Sino Biological Cell Lysate for ACOX1
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for ACOX1

    ACOX1 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    OriGene Antibodies for ACOX1
    OriGene Custom Antibody Services for ACOX1
    Novus Biologicals ACOX1 Antibodies
    Abcam antibodies for ACOX1
    Cloud-Clone Corp. Antibodies for ACOX1
    ThermoFisher Antibodies for ACOX1
    LSBio Antibodies in human, mouse, rat for ACOX1

    ACOX1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for ACOX1
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for ACOX1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for ACOX1
    Cloud-Clone Corp. CLIAs for ACOX1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 6):
     IPR013786 AcylCoA_DH/ox_N
     IPR006091 Acyl-CoA_Oxase/DH_cen-dom
     IPR012258 Acyl-CoA_oxidase
     IPR009100 AcylCoA_DH/oxidase_NM_dom
     IPR002655 Acyl-CoA_oxidase_C

    Graphical View of Domain Structure for InterPro Entry Q15067

    ProtoNet protein and cluster: Q15067

    1 Blocks protein domain: IPB002655 Acyl-CoA oxidase

    UniProtKB/Swiss-Prot: ACOX1_HUMAN, Q15067
    Similarity: Belongs to the acyl-CoA oxidase family


    ACOX1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ACOX1_HUMAN, Q15067
    Function: Catalyzes the desaturation of acyl-CoAs to 2-trans-enoyl-CoAs. Isoform 1 shows highest activity against
    medium-chain fatty acyl-CoAs and activity decreases with increasing chain length. Isoform 2 is active against a
    much broader range of substrates and shows activity towards very long-chain acyl-CoAs. Isoform 2 is twice as
    active as isoform 1 against 16-hydroxy-palmitoyl-CoA and is 25% more active against 1,16-hexadecanodioyl-CoA
    Catalytic activity: Acyl-CoA + O(2) = trans-2,3-dehydroacyl-CoA + H(2)O(2)
    Biophysicochemical properties: Kinetic parameters: KM=73 uM for palmitoyl-CoA (isoform 1); KM=90 uM for
    palmitoyl-CoA (isoform 2); pH dependence: Optimum pH is 8.5 for isoform 1 and 7.5-8.5 for isoform 2; Temperature
    dependence: Optimum temperature for isoform 1 at pH 7.5 is 40 degrees Celsius with no activity at 50 degrees
    Celsius. Optimum temperature for isoform 2 at pH 7.5 is 47.5 degrees Celsius with 57% activity retained at 50
    degrees Celsius;

         Genatlas biochemistry entry for ACOX1:
    acyl-CoA oxidase,peroxisomal matrix,medium or long chain,catalyzing the first step of peroxisomal fatty acid
    beta-oxidation

         Enzyme Number (IUBMB): EC 1.3.3.61 2

         Gene Ontology (GO): Selected molecular function terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003995acyl-CoA dehydrogenase activity IEA--
    GO:0003997acyl-CoA oxidase activity TAS--
    GO:0005102receptor binding IPI--
    GO:0005504fatty acid binding IEA--
    GO:0016401palmitoyl-CoA oxidase activity IEA--
         
    ACOX1 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for ACOX1:
     Increased Salmonella enterica   Increased Salmonella enterica  

         7 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Acox1):
     endocrine/exocrine gland  growth/size/body  homeostasis/metabolism  immune system  liver/biliary system 
     reproductive system  tumorigenesis 

    ACOX1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Acox1tm1Jkr for ACOX1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ACOX1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for ACOX1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ACOX1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ACOX1

    miRNA
    Products:
        
    miRTarBase miRNAs that target ACOX1:
    hsa-mir-615-3p (MIRT040279), hsa-mir-92b-5p (MIRT037792)

    Block miRNA regulation of human, mouse, rat ACOX1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ACOX1 (see all 54):
    hsa-miR-3164 hsa-miR-4291 hsa-miR-579 hsa-miR-199a-3p hsa-miR-15a hsa-miR-25 hsa-miR-219-5p hsa-miR-488
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for ACOX1
    Predesigned siRNA for gene silencing in human, mouse, rat ACOX1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for ACOX1

    Clone
    Products:
         
    OriGene clones in human, mouse for ACOX1 (see all 16)
    OriGene ORF clones in mouse, rat for ACOX1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): ACOX1 (NM_004035)
    Sino Biological Human cDNA Clone for ACOX1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ACOX1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ACOX1

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for ACOX1
    Browse ESI BIO Cell Lines and PureStem Progenitors for ACOX1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACOX1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ACOX1_HUMAN, Q15067: Peroxisome
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    peroxisome5
    mitochondrion2
    endoplasmic reticulum1
    nucleus1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ----
    GO:0005739mitochondrion IEA--
    GO:0005777peroxisome IDA17881773
    GO:0005778peroxisomal membrane IEA--
    GO:0005782peroxisomal matrix TAS--

    ACOX1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for ACOX1 About   (see all 9)  
    See pathways by source

    SuperPathContained pathways About
    1Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    Metabolic pathways0.38
    2PPAR signaling pathway
    fatty acid beta-oxidation VI (peroxisome)0.00
    PPAR signaling pathway
    3Fatty acid, triacylglycerol, and ketone body metabolism
    Fatty acid, triacylglycerol, and ketone body metabolism0.65
    PPARA Activates Gene Expression0.63
    Regulation of Lipid Metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)0.65
    4Fatty acid metabolism
    Fatty acid metabolism0.42
    Fatty acid degradation0.42
    5Peroxisomal lipid metabolism
    Peroxisomal lipid metabolism
    Beta-oxidation of very long chain fatty acids0.00

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for ACOX1
        fatty acid beta-oxidation VI (peroxisome)



    Selected Kegg Pathways  (Kegg details for ACOX1) (see all 7):
        Fatty acid degradation
    alpha-Linolenic acid metabolism
    Biosynthesis of unsaturated fatty acids
    Metabolic pathways
    Fatty acid metabolism

    UniProtKB/Swiss-Prot: ACOX1_HUMAN, Q15067
    Pathway: Lipid metabolism; peroxisomal fatty acid beta-oxidation


    ACOX1 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including ACOX1: 

              Insulin Signaling Pathway in human mouse rat
              Fatty Acid Metabolism in human mouse rat
              Fatty Liver in human mouse rat
              PPAR Targets in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for ACOX1

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

    Selected Interacting proteins for ACOX1 (Q150673 ENSP000002932174) via UniProtKB, MINT, STRING, and/or I2D (see all 102)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000096150P622693I2D: score=3 
    ENSG00000223367P622693I2D: score=3 
    ENSG00000226225P622693I2D: score=3 
    ENSG00000235650P622693I2D: score=3 
    RPS18P622693I2D: score=3 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 18):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000038very long-chain fatty acid metabolic process IMP18536048
    GO:0006091generation of precursor metabolites and energy IMP7876265
    GO:0006629lipid metabolic process IDA8117268
    GO:0006631fatty acid metabolic process ----
    GO:0006635fatty acid beta-oxidation ----

    ACOX1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ACOX1

    Selected HMDB Compounds for ACOX1 (see all 48)    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--
    (2S,6R,10R)-Trimethyl-hendecanoyl-CoA((2S),(6R),10)-trimethylundecanoyl-CoA (see all 8)----
    2-Methylbutyryl-CoA2-methylbutanoyl-CoA (see all 11)6712-02-3--
    2-Methylhexanoyl-CoA2-Methylhexanoyl-CoEnzyme A (see all 5)----
    20-CoA-20-oxo-leukotriene B4CoA-20-COOH-LTB(,4) (see all 2)----
    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--

    2 DrugBank Compounds for ACOX1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    (3R)-3-HYDROXYDODECANOIC ACID-- --target--10592235
    Flavin-Adenine Dinucleotide-- 146-14-5target--10592235

    Selected Novoseek inferred chemical compound relationships for ACOX1 gene (see all 38)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    acyl-coa 90.7 68 1679469 (2), 9525937 (2), 17458872 (2), 20195242 (2) (see all 50)
    palmitoyl coa 78.4 5 8917673 (2), 17178630 (1), 8098915 (1), 9917524 (1)
    ciprofibrate 78 2 9209712 (1), 9917524 (1)
    salicylhydroxamic acid 70.1 5 11351100 (1), 17408956 (1), 19863756 (1)
    ubiquinol 63.3 5 15082931 (1), 11801238 (1), 18388981 (1), 19648408 (1) (see all 5)
    pfda 61.1 1 10779693 (1)
    sterol 58.3 5 19054139 (1), 11734571 (1), 15060085 (1)
    fatty acid 55.7 14 19054139 (1), 11855929 (1), 13130515 (1), 17438077 (1) (see all 10)
    tripeptide 49.7 2 1629226 (1)
    clofibric acid 49.6 2 7700886 (1), 8917673 (1)



    ACOX1 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for ACOX1 gene (3 alternative transcripts): 
    NM_001185039.1  NM_004035.6  NM_007292.5  

    Unigene Cluster for ACOX1:

    Acyl-CoA oxidase 1, palmitoyl
    Hs.464137  [show with all ESTs]
    Unigene Representative Sequence: NM_001185039
    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000293217 ENST00000588968 ENST00000587927 ENST00000591963 ENST00000572047
    ENST00000573078 ENST00000301608 ENST00000589744 ENST00000591857 ENST00000588176
    ENST00000589301 ENST00000576743 ENST00000592329 ENST00000537812(uc002jqf.3 uc010wsq.2 uc002jqe.3 uc010wsr.2)

    miRNA
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    Block miRNA regulation of human, mouse, rat ACOX1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ACOX1 (see all 54):
    hsa-miR-3164 hsa-miR-4291 hsa-miR-579 hsa-miR-199a-3p hsa-miR-15a hsa-miR-25 hsa-miR-219-5p hsa-miR-488
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for ACOX1
    Predesigned siRNA for gene silencing in human, mouse, rat ACOX1
    Clone
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    OriGene clones in human, mouse for ACOX1 (see all 16)
    OriGene ORF clones in mouse, rat for ACOX1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): ACOX1 (NM_004035)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ACOX1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ACOX1
    Primer
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    OriGene qPCR primer pairs and template standards for ACOX1
    OriGene qSTAR qPCR primer pairs in human, mouse for ACOX1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ACOX1
      QuantiTect SYBR Green Assays in human, mouse, rat ACOX1
      QuantiFast Probe-based Assays in human, mouse, rat ACOX1

    Additional mRNA sequence: 

    AK095501.1 AK225897.1 AK291793.1 AK292965.1 AK296409.1 AK300447.1 AK308218.1 BC008767.2 
    BC010425.1 BX537380.1 S69189.1 U07866.1 X71440.1 

    19 DOTS entries:

    DT.452082  DT.410755  DT.455141  DT.100795611  DT.97762581  DT.95167403  DT.92434871  DT.95164072 
    DT.92020810  DT.121007927  DT.100025740  DT.302659  DT.121007944  DT.92434868  DT.99951970  DT.432458 
    DT.91690102  DT.95202571  DT.97844071 

    Selected AceView cDNA sequences (see all 277):

    T81178 AI905531 BF435852 AL550517 AW628408 BC010425 F04944 AA448669 
    AA359052 AA026003 H72834 AA377350 BI054492 CB157201 NM_007292 CK300004 
    BX473374 AI694578 H72388 BM845397 AI692948 AI344480 AV646828 CK299942 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for ACOX1    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b · 15c ^ 16
    SP1:                          -           -                                                                                                         
    SP2:                          -                 -                                                                                                   
    SP3:                          -                 -     -     -                                                                                       
    SP4:                                                                                                                                -     -         
    SP5:                                      -     -                                                                                                   


    ECgene alternative splicing isoforms for ACOX1

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    ACOX1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTTGGACAGC
    ACOX1 Expression
    About this image


    ACOX1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 13) fully expand
     
     Brain (Nervous System)    fully expand to see all 9 entries
             Cerebral Cortex
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Kidney (Urinary System)
             Metanephros
    ACOX1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ACOX1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.464137

    UniProtKB/Swiss-Prot: ACOX1_HUMAN, Q15067
    Tissue specificity: Widely expressed with highest levels of isoform 1 and isoform 2 detected in testis. Isoform 1
    is expressed at higher levels than isoform 2 in liver and kidney while isoform 2 levels are higher in brain,
    lung, muscle, white adipose tissue and testis. Levels are almost equal in heart

        Pathway & Disease-focused RT2 Profiler PCR Arrays including ACOX1: 
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              PPAR Targets in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

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    (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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for ACOX1 gene from Selected species (see all 22)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Acox11 , 5 acyl-Coenzyme A oxidase 1, palmitoyl1, 5 81.06(n)1
    84.39(a)1
      11 (80.96 cM)5
    114301  NM_015729.31  NP_056544.21 
     1161718885 
    chicken
    (Gallus gallus)
    Aves ACOX11 acyl-CoA oxidase 1, palmitoyl 73.43(n)
    77.27(a)
      417366  NM_001006205.1  NP_001006205.1 
    lizard
    (Anolis carolinensis)
    Reptilia ACOX16
    acyl-CoA oxidase 1, palmitoyl
    78(a)
    1 ↔ 1
    2(113329069-113369463)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia BX720957.12   -- 75.04(n)    BX720957.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufb59h122 wufb59h12 75.94(n)   322402  57058522 
    fruit fly
    (Drosophila melanogaster)
    Insecta BcDNA:GH074853
    CG50091
    palmitoyl-CoA oxidase3
    CG50091
    43(a)
    (best of 4)3
    52.54(n)1
    44.72(a)1
      54E83
    370281  NM_137420.21  NP_611264.21 
    worm
    (Caenorhabditis elegans)
    Secernentea F25C8.13
    acox-11
    ACYL-COENZYME A OXIDASE, PEROXISOMAL
    (EC 1.3.3.6) more3
    acox-11
    46(a)
    (best of 7)3
    52.38(n)1
    45.03(a)1
      V(20899627-20901903)3
    1731621  NM_001025918.41  NP_001021089.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes POX1(YGL205W)4 Fatty-acyl coenzyme A oxidase, involved in the fatty more   --   7(108158-110404) 852667  NP_011310.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons ACX11 ACX1 51.84(n)
    45.11(a)
      827381  NM_117778.7  NP_567513.4 
    rice
    (Oryza sativa)
    Liliopsida Os.91922 Oryza sativa (japonica cultivar-group) cDNA clone0 more 72.47(n)    AK060849.1 


    ENSEMBL Gene Tree for ACOX1 (if available)
    TreeFam Gene Tree for ACOX1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ACOX1 gene
    ACOX22  ACOX32  ACOXL2  
    3 SIMAP similar genes for ACOX1 using alignment to 7 protein entries:     ACOX1_HUMAN (see all proteins):
    ACOX2    ACOX3    ACOXL

    ACOX1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ACOX1 (see all 1035)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0670444
    Adrenoleukodystrophy, pseudoneonatal (Pseudo-NALD)4--see VAR_0670442 S P mis40--------
    VAR_0670434
    Adrenoleukodystrophy, pseudoneonatal (Pseudo-NALD)4--see VAR_0670432 Q R mis40--------
    VAR_0670414
    Adrenoleukodystrophy, pseudoneonatal (Pseudo-NALD)4--see VAR_0670412 S L mis40--------
    VAR_0257904
    Adrenoleukodystrophy, pseudoneonatal (Pseudo-NALD)4--see VAR_0257902 M V mis40--------
    VAR_0257894
    Adrenoleukodystrophy, pseudoneonatal (Pseudo-NALD)4--see VAR_0257892 G C mis40--------
    VAR_0670424
    Adrenoleukodystrophy, pseudoneonatal (Pseudo-NALD)4--see VAR_0670422 G V mis40--------
    rs1120261811,2
    --69378692(+) ATATAC/TATACA 3 -- int11Minor allele frequency- T:0.50CSA 2
    rs72225771,2
    C--69378694(+) atataC/TaCACA 3 -- int13Minor allele frequency- T:0.43NA CSA EA 123
    rs343917741,2
    C--69390609(+) GTCTC-/AAAAAA 3 -- int11Minor allele frequency- A:0.00CSA 2
    rs1405831251,2
    C--69397621(+) AAAAG-/AAAG  
      AAAAGA
    AAAGA
    3 -- int10--------

    HapMap Linkage Disequilibrium report for ACOX1 (73937588 - 73975515 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for ACOX1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2671149CNV Deletion23128226
    nsv908825CNV Loss21882294
    nsv908824CNV Loss21882294
    nsv908821CNV Loss21882294
    dgv3267n71CNV Loss21882294
    dgv3264n71CNV Loss21882294
    nsv833545CNV Gain17160897

    Human Gene Mutation Database (HGMD): ACOX1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ACOX1
    DNA2.0 Custom Variant and Variant Library Synthesis for ACOX1

    (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.)
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    OMIM gene information: 609751   
    OMIM disorders: 264470  
    UniProtKB/Swiss-Prot: ACOX1_HUMAN, Q15067
  • Adrenoleukodystrophy, pseudoneonatal (Pseudo-NALD) [MIM:264470]: A peroxisomal single-enzyme disorder of
    fatty acid beta-oxidation, resulting in clinical manifestations that remind neonatal adrenoleukodystrophy.
    Clinical features include mental retardation, leukodystrophy, seizures, mild hepatomegaly, hearing deficit.
    Pseudo-NALD is characterized by increased plasma levels of very-long chain fatty acids, due to decreased or
    absent peroxisome acyl-CoA oxidase activity. Peroxisomes are intact and functioning. Note=The disease is caused
    by mutations affecting the gene represented in this entry

  • Selected diseases for ACOX1 (see all 27):    
    About MalaCards
    pseudoneonatal adrenoleukodystrophy    peroxisomal acyl-coa oxidase deficiency    anoxia    rhizomelic chondrodysplasia punctata type 1
    d-bifunctional protein deficiency    adrenoleukodystrophy    rhizomelic chondrodysplasia punctata    peroxisomal disease
    protein s deficiency    peroxisome disorders    zellweger syndrome    chondrodysplasia
    refsum disease    leukodystrophy    fatty liver disease    hepatoblastoma
    liver disease    retinoblastoma    mental retardation    retinitis

    3 diseases from the University of Copenhagen DISEASES database for ACOX1:
    Adrenoleukodystrophy     Zellweger syndrome     Rhizomelic chondrodysplasia punctata

    ACOX1 for disorders           About GeneDecksing

    6 Novoseek inferred disease relationships for ACOX1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    rhizomelic chondrodysplasia punctata, type 1 85.2 4 11734571 (1), 15060085 (1)
    d-bifunctional protein deficiency 84.6 8 11734571 (1), 15060085 (1)
    oxidase deficiency 75.1 2 17458872 (2)
    zellweger syndrome 73.2 4 1679469 (2), 8117268 (1)
    adrenoleukodystrophy 56.8 6 11855929 (1), 11734571 (1), 15060085 (1)
    fatty liver 41.3 2 12213584 (1), 20195242 (1)

    Genetic Association Database (GAD): ACOX1
    Human Genome Epidemiology (HuGE) Navigator: ACOX1 (2 documents)

    Export disorders for ACOX1 gene to outside databases

    (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)
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    PubMed articles for ACOX1 gene, integrated from 10 sources (see all 158):
    (articles sorted by number of sources associating them with ACOX1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Isolation of the human peroxisomal acyl-CoA oxidase gene: organization, promoter analysis, and chromosomal localization. (PubMed id 8159712)1, 2, 3, 9 Varanasi U.... Reddy J.K. (Proc. Natl. Acad. Sci. U.S.A. 1994)
    2. Reversal of mouse Acyl-CoA oxidase 1 (ACOX1) null phenotype by human ACOX1b isoform. (PubMed id 20195242)1, 2, 9 Vluggens A.... Cherkaoui-Malki M. (Lab. Invest. 2010)
    3. Overexpression and characterization of the human peroxisomal acyl-CoA oxidase in insect cells. (PubMed id 7876265)1, 2, 9 Chu R.... Reddy J.K. (J. Biol. Chem. 1995)
    4. Molecular cloning and functional expression of a human peroxisomal acyl-coenzyme A oxidase. (PubMed id 8117268)1, 2, 9 Aoyama T.... Hashimoto T. (Biochem. Biophys. Res. Commun. 1994)
    5. Clinical, biochemical, and mutational spectrum of peroxisomal acyl- coenzyme A oxidase deficiency. (PubMed id 17458872)1, 2, 9 Ferdinandusse S.... Waterham H.R. (Hum. Mutat. 2007)
    6. Biochemical characterization of two functional human liver acyl-CoA oxidase isoforms 1a and 1b encoded by a single gene. (PubMed id 17603022)1, 2, 9 Oaxaca-Castillo D.... Cherkaoui-Malki M. (Biochem. Biophys. Res. Commun. 2007)
    7. Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations. (PubMed id 18660489)1, 4 Lu Y....Boer J.M. (J. Lipid Res. 2008)
    8. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (Cell 2006)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    10. 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. (Genome Res. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 51 HGNC: 119 AceView: ACOX1 Ensembl:ENSG00000161533 euGenes: HUgn51
    ECgene: ACOX1 Kegg: 51 H-InvDB: ACOX1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for ACOX1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=ACOX1[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ACOX1 gene:
    Search GeneIP for patents involving ACOX1

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



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