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

ACOX1 Gene

protein-coding   GIFtS: 69
GCID: GC17M073937

Acyl-CoA Oxidase 1, Palmitoyl

(Previous names: acyl-Coenzyme A oxidase 1, palmitoyl)
Microbiology & Infectious Diseases Congress
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 rhizomelic chondrodysplasia punctata type 1, and among its related super-pathways are Metabolic pathways and Linoleic acid (LA) metabolism. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NT_010783.15  NC_018928.2  
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

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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

Explore proteomics data for ACOX1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • 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 MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ACOX1 Protein Expression
    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  
    Reactome Protein details: Q15067
    Human Recombinant Protein Products for ACOX1: 
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    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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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/6 InterPro protein domains (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 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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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): 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


    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  homeostasis/metabolism  immune system  liver/biliary system 
     reproductive system  tumorigenesis 

    ACOX1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Acox1tm1Jkr for ACOX1

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    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for ACOX1 About   (see all 10)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Metabolism
    Metabolism0.40
    Metabolism of lipids and lipoproteins0.34
    Metabolic pathways0.40
    2alpha-linolenic (omega3) and linoleic (omega6) acid metabolism
    alpha-linolenic (omega3) and linoleic (omega6) acid metabolism0.55
    Beta-oxidation of very long chain fatty acids0.42
    alpha-linolenic acid (ALA) metabolism0.55
    3Regulation of Lipid Metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)
    Regulation of Lipid Metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)0.74
    Fatty acid, triacylglycerol, and ketone body metabolism0.52
    PPARA Activates Gene Expression0.74
    4Linoleic acid metabolism
    alpha-Linolenic acid metabolism0.57
    5fatty acid activation
    fatty acid beta-oxidation VI (peroxisome)0.46

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


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


    5/9        Reactome Pathways for ACOX1 (see all 9)
        Beta-oxidation of very long chain fatty acids
    Metabolism
    Peroxisomal lipid metabolism
    alpha-linolenic acid (ALA) metabolism
    Fatty acid, triacylglycerol, and ketone body metabolism


    5/6         Kegg Pathways  (Kegg details for ACOX1) (see all 6):
        Fatty acid degradation
    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)

    5/97 Interacting proteins for ACOX1 (Q150673 ENSP000002932174) via UniProtKB, MINT, STRING, and/or I2D (see all 97)

    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): 5/18 biological process terms (GO ID links to tree view) (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 HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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
    Browse drugs & compounds from Enzo Life Sciences

    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 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)

    Search CenterWatch for drugs/clinical trials and news about ACOX1

    (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,
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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
    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)

    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    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 

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

    BC008767 BM998999 AV654372 AA376469 AL598503 AW594533 AI692948 AA026003 
    H72834 CB157201 CK300004 BX473374 BM845397 H72388 NM_004035 AI905531 
    AL550517 N52509 T81178 BX280617 BI054492 AW628408 T24666 NM_007292 

    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™, 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)      ACOX1 embryonic expression: see
    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 
     5/11 selected tissues (see all 11) fully expand
     
     Brain (Nervous System)    fully expand to see all 8 entries
             Thalamus
             ganglion/cranial   
     
     Neural Tube (Nervous System)    fully expand to see all 4 entries
             Metencephalon
     
     Peripheral Nervous System (Nervous System)
             spinal/ganglion/dorsal root ganglion   
     
     Spinal Cord (Nervous System)
             spinal/ganglion/dorsal root ganglion   
     
     Colon (Gastrointestinal Tract)
             colonic mucosal (ibs)   

    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

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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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for ACOX1 gene from 10/23 species (see all 23)    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_015729.21  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-coenzyme A oxidase
    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
    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 
    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 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 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 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) 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

    10/1035 SNPs in ACOX1 are shown (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
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    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

  • 20/26 diseases for ACOX1 (see all 26):    About MalaCards
    pseudoneonatal adrenoleukodystrophy    rhizomelic chondrodysplasia punctata type 1    d-bifunctional protein deficiency    anoxia
    adrenoleukodystrophy    rhizomelic chondrodysplasia punctata    peroxisomal disease    protein s deficiency
    peroxisome biogenesis disorders    zellweger syndrome    chondrodysplasia    peroxisome disorders
    refsum disease    leukodystrophy    fatty liver disease    hepatoblastoma
    liver disease    cytochrome p450    retinoblastoma    mental retardation

    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)
    About This Section

    PubMed articles for ACOX1 gene, integrated from 9 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. (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. Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations. (PubMed id 18660489)1, 4 Lu Y....Boer J.M. (2008)
    8. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (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. (2004)

    (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)

    (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

    (According to HUGE)
    About This Section
      --

    (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

    (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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