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

ACOX1 Gene

protein-coding   GIFtS: 66
GCID: GC17M073937

acyl-CoA oxidase 1, palmitoyl

(Previous names: acyl-Coenzyme A oxidase 1, palmitoyl )
 Explore 29 diseases affiliated with
ACOX1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for ACOX1    

Aliases
for ACOX1 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 Oxidase 1, Palmitoyl1 2     Straight-Chain Acyl-CoA Oxidase2 3
ACOX2 3 5     AOX2 3
SCOX2 3 5     EC 1.3.3.63 8
PALMCOX1 2     Acyl-CoA Oxidase, Straight-Chain2
Acyl-Coenzyme A Oxidase 1, Palmitoyl1 2     Peroxisomal Acyl-Coenzyme A Oxidase 12
Palmitoyl-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


Summaries
for ACOX1 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 ACOX1:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NC_018928.1  NT_010783.15  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for ACOX1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for ACOX1 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: ACOX1_HUMAN, Q15067 (See protein sequence)
Recommended Name: Peroxisomal acyl-coenzyme A oxidase 1  
Size: 660 amino acids; 74424 Da
Cofactor: FAD
Subcellular location: Peroxisome
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q15067

    • 4/11 DME Specific Peptides for ACOX1 (Q15067) (see all 11)
     GLETTAT  DPDFQHE  DNGYLKMDN  TRRRREIEN 

    ACOX1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    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   ENSP00000446392  
     ENSP00000441257   ENSP00000438771  
    Reactome Protein details: Q15067
    Human Recombinant Protein Products: 
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    Novus Biologicals ACOX1 Lysate
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    Uscn Proteins for ACOX1

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    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



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    Protein Domains /
    Families
    for ACOX1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    ACOX1 for domains           About GeneDecksing

    5/6 InterPro domains/families (see all 6):
     IPR012258 Acyl-CoA_oxidase
     IPR009100 AcylCoA_DH/oxidase
     IPR013786 AcylCoA_DH/ox_N
     IPR006091 Acyl-CoA_Oxase/DH_cen-dom
     IPR002655 Acyl-CoA_oxidase_C

    Graphical View of Domain Structure for InterPro Entry Q15067

    ProtoNet protein and cluster: Q15067

    1 Blocks protein family: IPB002655 Acyl-CoA oxidase

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


    Function
    for ACOX1 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: 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

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    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
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    Clone
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    Gene Ontology (GO): 5/9 molecular function terms (GO ID links to tree view) (see all 9):    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


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

    Animal Models:
         Mouse knock-out Acox1tm1Jkr for ACOX1
         7 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Acox1):
     endocrine/exocrine gland  growth/size  homeostasis/metabolism  immune system  liver/biliary system 
     reproductive system  tumorigenesis 

    ACOX1 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for ACOX1 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 - 5/10 super-pathways (see all 10) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Regulation of Lipid Metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)
    		Regulation of Lipid Metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)1.00
    		Fatty acid, triacylglycerol, and ketone body metabolism0.52
    		PPARA Activates Gene Expression0.74
    2alpha-linolenic (omega3) and linoleic (omega6) acid metabolism
    		alpha-linolenic (omega3) and linoleic (omega6) acid metabolism1.00
    		Beta-oxidation of very long chain fatty acids0.42
    		alpha-linolenic acid (ALA) metabolism1.00
    3Metabolism
    		Metabolism1.00
    		Metabolism of lipids and lipoproteins0.34
    		Metabolic pathways0.38
    4Peroxisomal lipid metabolism
    		Peroxisomal lipid metabolism1.00
    5Peroxisome
    		Peroxisome1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    5/10        Reactome Pathways for ACOX1 (see all 10)
        Expression of ACOX1
    Beta-oxidation of very long chain fatty acids
    Metabolism
    Peroxisomal lipid metabolism
    alpha-linolenic acid (ALA) metabolism


    5/6         Kegg Pathways  (Kegg details for ACOX1) (see all 6):
        Fatty acid metabolism
    alpha-Linolenic acid metabolism
    Biosynthesis of unsaturated fatty acids
    Metabolic pathways
    PPAR signaling pathway

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


    ACOX1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ACOX1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 24)

    5/91 Interacting proteins for ACOX1 (Q150673 ENSP000002932174) via UniProtKB, MINT, STRING, and/or I2D (see all 91)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    SLC2A4P146723, ENSP000003209354I2D: score=3 STRING: ENSP00000320935
    SCP2P223073, ENSP000003605694I2D: score=2 STRING: ENSP00000360569
    ACAA1P091103, ENSP000003336644I2D: score=1 STRING: ENSP00000333664
    ACAT1P247523, ENSP000002658384I2D: score=1 STRING: ENSP00000265838
    PSMD3O432423I2D: score=4 
    About this table

    Gene Ontology (GO): 5/16 biological process terms (GO ID links to tree view) (see all 16):    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



    Drugs & Compounds
    for ACOX1 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

    ACOX1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for ACOX1

    10/48 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

    10/38 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about ACOX1 

    Transcripts
    for ACOX1 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,
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    About This Section
    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
    16 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000293217 ENST00000588968 ENST00000587927 ENST00000591963 ENST00000572047
    ENST00000573078 ENST00000301608 ENST00000589744 ENST00000591857 ENST00000588176
    ENST00000589301 ENST00000576743 ENST00000592329 ENST00000539791 ENST00000537812(uc002jqf.3 uc010wsq.2 uc002jqe.3 uc010wsr.2)
    ENST00000538781

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    8/54 QIAGEN miScript miRNA 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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    Additional cDNA 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.92434871  DT.95167403  DT.95164072 
    DT.92020810  DT.121007927  DT.100025740  DT.302659  DT.121007944  DT.92434868  DT.99951970  DT.432458 
    DT.91690102  DT.95202571  DT.97844071 

    24/277 AceView cDNA sequences (see all 277):

    AA377350 AA359052 F04944 BF435852 BC008767 R16218 AW628408 AI718272 
    T81178 BU616842 C04967 H72388 AV654372 BM845397 BX473374 CK299942 
    AI905531 AV646828 CK300004 AA376469 CB162655 AA026003 CR603405 AI344483 

    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

    Expression
    for ACOX1 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

    ACOX1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GTTGGACAGC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image
    See ACOX1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ACOX1

    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

        SABiosciences Expression via Pathway-Focused 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

    Primer
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    In Situ
    Assay Products:     
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    Orthologs
    for ACOX1 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 ACOX1 gene from 9/32 species (see all 32)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    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
    		 --
    		 79(a)
    		 1 ↔ 1
    		 2(113329546-113367652)
    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
    CELE_F25C8.11    		 ACYL-COENZYME A OXIDASE, PEROXISOMAL (EC
    1.3.3.6) more3
    pseudo gene CELE_F25C8.11    		 46(a)
    (best of 7)3
    51.62(n)1
    45.49(a)1    		   V(20899627-20901903)3
    1803761  NM_075635.21  NP_508036.11 
    A. gossypii yeast
    (Ashbya gossypii)    		 Saccharomycetes AGOS_AER358C1 AER358Cp 46.59(n)
    34.25(a)    		   4621430  NM_210568.1  NP_985214.1 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons ACX11 peroxisomal acyl-coenzyme A oxidase 1 51.79(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
    for ACOX1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ACOX1 gene
    ACOX22  ACOX32  ACOXL2  
    3 SIMAP similar genes for ACOX1 using alignment to 8 protein entries:     ACOX1_HUMAN (see all proteins):
    ACOX2    ACOX3    ACOXL

    ACOX1 for paralogs           About GeneDecksing



    Genomic Variants
    for ACOX1 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

    10/770 NCBI SNPs in ACOX1 are shown (see all 770)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 17 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs781176731,2
    		F,--69363028(+) GCCCAC/TTTCTG 3 -- ds50011Minor allele frequency- T:0.09WA 118
    rs1163095751,2
    		C,F,--69363340(+) ACAGCT/CGTCCA 3 -- ut311Minor allele frequency- C:0.04WA 118
    rs733557121,2
    		C,F,--69363350(+) AACCAT/CGATCC 3 -- ut315Minor allele frequency- C:0.12WA CSA 126
    rs2007989381,2
    		C--69364179(-) GTTTTG/TCTTTT 3 -- ut310--------
    rs1125418151,2
    		C,--69364224(+) TAGTCC/AATTAC 3 -- ut311Minor allele frequency- A:0.50NA 2
    rs169683331,2
    		C,F,--69364531(+) AACTCG/AGAAAA 3 -- ut314Minor allele frequency- A:0.05NA WA 260
    rs739976701,2
    		C,--69365497(+) ACAGAG/ACATAA 3 -- ut311Minor allele frequency- A:0.50WA 2
    rs99159731,2
    		C,F,--69365703(+) tataaT/Gctcag 3 -- ut315Minor allele frequency- G:0.26WA CSA 126
    rs1123255641,2
    		C--69365952(+) TACCCA/C/TGTCTC 6 -- ut311CSA 1
    rs739976711,2
    		C,--69366174(+) CTAAAG/ATGACT 3 -- ut311Minor allele frequency- A:0.50WA 2

    HapMap Linkage Disequilibrium report for ACOX1 (73937588 - 73975515 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for ACOX1: --
    Human Gene Mutation Database (HGMD): ACOX1

    SABiosciences Cancer Mutation PCR Assays
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    Disorders / Diseases
    for ACOX1 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
    ACOX1 for disorders           About GeneDecksing

    OMIM gene information: 609751   
    OMIM disorders: 264470  
    UniProtKB/Swiss-Prot: ACOX1_HUMAN, Q15067
  • Defects in ACOX1 are the cause of adrenoleukodystrophy pseudoneonatal (Pseudo-NALD) [MIM:264470]; also known
    • as peroxisomal acyl-CoA oxidase deficiency. Pseudo-NALD is a peroxisomal single-enzyme disorder. Clinical features
    include mental retardation, leukodystrophy, seizures, mild hepatomegaly, hearing deficit. Pseudo-NALD is characterized
    by increased plasma levels of very-long chain fatty cids, due to decreased or absent peroxisome acyl-CoA oxidase
    activity. Peroxisomes are intact and functioning

    20/29 diseases for ACOX1 (see all 29):    About MalaCards
    pseudoneonatal adrenoleukodystrophy    d-bifunctional protein deficiency    rhizomelic chondrodysplasia punctata type 1    rhizomelic chondrodysplasia punctata
    adrenoleukodystrophy    acyl-coa dehydrogenase    chondrodysplasia punctata    peroxisomal biogenesis disorder
    peroxisome biogenesis disorders    chondrodysplasia    zellweger syndrome    protein s deficiency
    fatty liver disease    refsum disease    peroxisomal disease    liver disease
    leukodystrophy    anoxia    hepatoblastoma    colon carcinoma

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

    6 Novoseek 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)

    Human Genome Epidemiology (HuGE) Navigator: ACOX1 (2 documents)

    Export disorders for ACOX1 gene to outside databases

    Publications
    for ACOX1 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 ACOX1 gene, integrated from 9 sources (see all 156):
    (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. (1994)
    2. Reversal of mouse Acyl-CoA oxidase 1 (ACOX1) null phe notype by human ACOX1b isoform [corrected]. (PubMed id 20195242)1, 2, 9 Vluggens A....Cherkaoui-Malki M. (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. (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. (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. (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. (2007)
    7. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    9. 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)
    10. Peroxisomal acyl-CoA oxidase deficiency. (PubMed id 11815777)1, 2 Suzuki Y.... Kondo N. (2002)

    External Searches for ACOX1 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 ACOX1 gene

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

    Other Databases showing ACOX1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing ACOX1 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 ACOX1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ACOX1

    Intellectual Property
    for ACOX1 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		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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