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

ACOX3 Gene

protein-coding   GIFtS: 66
GCID: GC04M008368

Acyl-CoA Oxidase 3, Pristanoyl

(Previous names: acyl-Coenzyme A oxidase 3, pristanoyl)
  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)
About This Section

Aliases
Acyl-CoA Oxidase 3, Pristanoyl1 2     Peroxisomal Acyl-Coenzyme A Oxidase 32
Acyl-Coenzyme A Oxidase 3, Pristanoyl1 2     BRCOX3
Branched-Chain Acyl-CoA Oxidase2 3     EC 1.3.3.63
Pristanoyl-CoA Oxidase2 3     PRCOX3
BRCACox2 3     

External Ids:    HGNC: 1211   Entrez Gene: 83102   Ensembl: ENSG000000870087   OMIM: 6034025   UniProtKB: O152543   

Export aliases for ACOX3 gene to outside databases

Previous GC identifers: GC04M008343 GC04M008549 GC04M008561 GC04M008486 GC04M008287


(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 ACOX3 Gene:
Acyl-Coenzyme A oxidase 3 also know as pristanoyl -CoA oxidase (ACOX3)is involved in the desaturation of 2-methyl
branched fatty acids in peroxisomes. Unlike the rat homolog, the human gene is expressed in very low amounts in
liver such that its mRNA was undetectable by routine Northern-blot analysis or its product by immunoblotting or
by enzyme activity measurements. However the human cDNA encoding a 700 amino acid protein with a peroxisomal
targeting C-terminal tripeptide S-K-L was isolated and is thought to be expressed under special conditions such
as specific developmental stages or in a tissue specific manner in tissues that have not yet been examined.
(provided by RefSeq, Jul 2008)

GeneCards Summary for ACOX3 Gene: 
ACOX3 (acyl-CoA oxidase 3, pristanoyl) is a protein-coding gene. Diseases associated with ACOX3 include mutism, and zellweger syndrome, and among its related super-pathways are Metabolic pathways and Beta-oxidation of pristanoyl-CoA. GO annotations related to this gene include acyl-CoA dehydrogenase activity and receptor binding. An important paralog of this gene is ACOX2.

UniProtKB/Swiss-Prot: ACOX3_HUMAN, O15254
Function: Oxidizes the CoA-esters of 2-methyl-branched fatty acids (By similarity)

Gene Wiki entry for ACOX3 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_000004.11  NT_006051.18  NC_018915.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ACOX3 gene promoter:
         TBP   RFX1   Pax-2   Pax-2a   XBP-1   HNF-3beta   CREB   TFIID   deltaCREB   COMP1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): ACOX3 promoter sequence
   Search SABiosciences Chromatin IP Primers for ACOX3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ACOX3


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

Entrez Gene cytogenetic band: 4p15.3   Ensembl cytogenetic band:  4p16.1   HGNC cytogenetic band: 4p15.3

ACOX3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ACOX3 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04M008368:  view genomic region     (about GC identifiers)

Start:
8,368,009 bp from pter      End:
8,442,452 bp from pter
Size:
74,444 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: ACOX3_HUMAN, O15254 (See protein sequence)
Recommended Name: Peroxisomal acyl-coenzyme A oxidase 3  
Size: 700 amino acids; 77629 Da
Cofactor: FAD (By similarity)
Subcellular location: Peroxisome (Potential)
Secondary accessions: Q96AJ8
Alternative splicing: 2 isoforms:  O15254-1   O15254-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ACOX3: NX_O15254

Explore proteomics data for ACOX3 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O15254

  • ACOX3 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ACOX3 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001095137.1  NP_003492.2  

    ENSEMBL proteins: 
     ENSP00000348775   ENSP00000413994   ENSP00000421625   ENSP00000427321  
    Reactome Protein details: O15254
    Human Recombinant Protein Products for ACOX3: 
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    Cloud-Clone Corp. Proteins for ACOX3 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IEA--
    GO:0005777peroxisome IDA8993592
    GO:0005782peroxisomal matrix TAS--

    ACOX3 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):
     IPR006090 Acyl-CoA_Oxase/DH_1
     IPR012258 Acyl-CoA_oxidase
     IPR009100 AcylCoA_DH/oxidase
     IPR006091 Acyl-CoA_Oxase/DH_cen-dom
     IPR002655 Acyl-CoA_oxidase_C

    Graphical View of Domain Structure for InterPro Entry O15254

    ProtoNet protein and cluster: O15254

    1 Blocks protein domain: IPB002655 Acyl-CoA oxidase

    UniProtKB/Swiss-Prot: ACOX3_HUMAN, O15254
    Similarity: Belongs to the acyl-CoA oxidase family


    ACOX3 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: ACOX3_HUMAN, O15254
    Function: Oxidizes the CoA-esters of 2-methyl-branched fatty acids (By similarity)
    Catalytic activity: Acyl-CoA + O(2) = trans-2,3-dehydroacyl-CoA + H(2)O(2)

         Genatlas biochemistry entry for ACOX3:
    branched-chain acyl-CoA oxidase 3,peroxisomal,acting on the CoA-esters of pristanic acid and straight chain
    mono-and dicarboxy fatty acids,expression below detection limit in man,extremely weakly expressed in liver,may be
    expressed under special conditions and tissues so far not examined

         Enzyme Number (IUBMB): EC 1.3.3.61

         Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003995acyl-CoA dehydrogenase activity IEA--
    GO:0003997acyl-CoA oxidase activity ----
    GO:0005102receptor binding IPI--
    GO:0016402pristanoyl-CoA oxidase activity TAS--
    GO:0016627oxidoreductase activity, acting on the CH-CH group of donors ----
         
    ACOX3 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for ACOX3:
     Decreased melanin production 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for ACOX3 
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    Inhib. RNA
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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 ACOX3 About   (see all 7)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Metabolism
    Metabolism0.40
    Metabolism of lipids and lipoproteins0.34
    Metabolic pathways0.40
    2Peroxisomal lipid metabolism
    Beta-oxidation of pristanoyl-CoA0.38
    Peroxisomal lipid metabolism0.38
    3Linoleic acid metabolism
    alpha-Linolenic acid metabolism0.57
    4Biosynthesis of unsaturated fatty acids
    Biosynthesis of unsaturated fatty acids0.38
    5Fatty Acid Beta Oxidation
    Fatty acid degradation0.32

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    4        Reactome Pathways for ACOX3
        Beta-oxidation of pristanoyl-CoA
    Metabolism
    Peroxisomal lipid metabolism
    Metabolism of lipids and lipoproteins


    5/6         Kegg Pathways  (Kegg details for ACOX3) (see all 6):
        Fatty acid degradation
    alpha-Linolenic acid metabolism
    Biosynthesis of unsaturated fatty acids
    Metabolic pathways
    PPAR signaling pathway

    UniProtKB/Swiss-Prot: ACOX3_HUMAN, O15254
    Pathway: Lipid metabolism; peroxisomal fatty acid beta-oxidation


    ACOX3 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ACOX3

    STRING Interaction Network Preview (showing 5 interactants - click image to see 23)

    5/25 Interacting proteins for ACOX3 (O152542, 3 ENSP000003487754) via UniProtKB, MINT, STRING, and/or I2D (see all 25)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    SMURF2Q9HAU42, 3MINT-61801 I2D: score=3 
    SLC2A4P146723I2D: score=1 
    ACAA1ENSP000003336644STRING: ENSP00000333664
    ACAA2ENSP000002850934STRING: ENSP00000285093
    ACAT1ENSP000002658384STRING: ENSP00000265838
    About this table

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006631fatty acid metabolic process ----
    GO:0006635fatty acid beta-oxidation ----
    GO:0008152metabolic process ----
    GO:0033540fatty acid beta-oxidation using acyl-CoA oxidase TAS--
    GO:0044255cellular lipid metabolic process TAS--

    ACOX3 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

    ACOX3 for compounds           About GeneDecksing

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

    Browse Tocris compounds for ACOX3

    10/42 HMDB Compounds for ACOX3 (see all 42)    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--

    6 Novoseek inferred chemical compound relationships for ACOX3 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    pristanic acid 95.5 3 10709653 (1), 8387517 (1), 9803880 (1)
    acyl-coa 83.8 6 9053547 (1), 8556358 (1), 9803880 (1)
    phytanic acid 83.2 1 1770789 (1)
    tripeptide 54.1 1 8706733 (1)
    sterol 42.5 3 11330072 (1), 9803880 (1)
    fatty acid 27.5 2 15599942 (1)

    Search CenterWatch for drugs/clinical trials and news about ACOX3

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for ACOX3 gene (2 alternative transcripts): 
    NM_001101667.1  NM_003501.2  

    Unigene Cluster for ACOX3:

    Acyl-CoA oxidase 3, pristanoyl
    Hs.479122  [show with all ESTs]
    Unigene Representative Sequence: BX640768
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000356406(uc010idk.3 uc003glc.4) ENST00000512411 ENST00000515797
    ENST00000413009(uc003gld.4) ENST00000503233 ENST00000510365 ENST00000508302
    ENST00000514423
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    Additional mRNA sequence: 

    AK225080.1 AK313242.1 BC017053.1 BX640768.1 Y11411.1 

    10 DOTS entries:

    DT.100742019  DT.315013  DT.95141073  DT.97841659  DT.101966593  DT.95261316  DT.75102844  DT.86848005 
    DT.91740564  DT.95155153 

    24/141 AceView cDNA sequences (see all 141):

    CA306669 BU728389 BX364074 F09801 BM456773 AU132016 AU141142 CF132142 
    Z45527 BQ436455 BE467143 BM682926 BF055976 BU857907 R41954 BF437051 
    BM998046 BM010643 AU131606 Z40378 R32150 BC017053 AI435950 AW402036 

    GeneLoc Exon Structure

    5/8 Alternative Splicing Database (ASD) splice patterns (SP) for ACOX3 (see all 8)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17 ^ 18 ^ 19a · 19b ^ 20 ^ 21a ·
    SP1:                                                                                                              -                 -     -                     
    SP2:              -     -     -                                                                                   -                 -     -     -               
    SP3:                                                                                                                                                            
    SP4:                                -                                                                                                                           
    SP5:                                                                                                                                -     -                     

    ExUns: 21b · 21c
    SP1:            
    SP2:            
    SP3:            
    SP4:            
    SP5:            


    ECgene alternative splicing isoforms for ACOX3

    (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

    ACOX3 expression in normal human tissues (normalized intensities)      ACOX3 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCTACCTGAT
    ACOX3 Expression
    About this image


    ACOX3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/7 selected tissues (see all 7) fully expand
     
     Lung (Respiratory System)
             bronchoalveolar lavage cells   
     
     Breast (Uncategorized)
             breast epithelium   
     
     Primitive Streak (Early Embryonic Tissues)
             Mesendoderm-like cells ( Generation of mesendoderm and definitive endoderm cells...
     
     Gut Tube (Gastrointestinal Tract)
             Definitive endoderm-like cells ( A scalable, suspension protocol for derivation of...
     
     Endoderm (Gastrulation Derivatives)
             Definitive endoderm-like cells ( Generation of mesendoderm and definitive endoderm...

    See ACOX3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ACOX3

    SOURCE GeneReport for Unigene cluster: Hs.479122
        SABiosciences Expression via Pathway-Focused PCR Arrays including ACOX3: 
              Fatty Acid Metabolism 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 ACOX3 gene from 9/16 species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Acox31 , 5 acyl-Coenzyme A oxidase 3, pristanoyl1, 5 76.19(n)1
    73.43(a)1
      5 (18.32 cM)5
    809111  NM_030721.21  NP_109646.21 
     355830405 
    chicken
    (Gallus gallus)
    Aves ACOX31 acyl-CoA oxidase 3, pristanoyl 65.41(n)
    65.55(a)
      422869  XM_420814.3  XP_420814.3 
    lizard
    (Anolis carolinensis)
    Reptilia ACOX36
    Acyl-coenzyme A oxidase
    66(a)
    1 ↔ 1
    GL343236.1(1658704-1693226)
    zebrafish
    (Danio rerio)
    Actinopterygii wufj81d022 Danio rerio cDNA clone MGC64087 IMAGE6794774, complete more 74.75(n)    BC054613.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG175443
    CG95271
    pristanoyl-CoA oxidase3
    CG95271
    42(a)
    (best of 2)3
    52.28(n)1
    44.96(a)1
      37D43
    338981  NM_135183.31  NP_609027.31 
    worm
    (Caenorhabditis elegans)
    Secernentea F58F9.71 , 3 acyl-coenzyme A oxidase3
    Protein F58F9.71
    40(a)3
    47.73(n)1
    42.08(a)1
      IV(6245587-6248667)3
    1773861  NM_068542.31  NP_500943.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes POX16
    Fatty-acyl coenzyme A oxidase, involved in the fat...
    23(a)
    1 → many
    VII(108158-110404)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons ACX61 acyl-CoA oxidase 45.43(n)
    36.29(a)
      837141  NM_100512.2  NP_172120.2 
    rice
    (Oryza sativa)
    Liliopsida Os06g03545001 hypothetical protein 46.07(n)
    38.55(a)
      4340986  NM_001064126.1  NP_001057591.1 


    ENSEMBL Gene Tree for ACOX3 (if available)
    TreeFam Gene Tree for ACOX3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ACOX3 gene
    ACOX22  ACOX12  ACOXL2  
    3 SIMAP similar genes for ACOX3 using alignment to 2 protein entries:     ACOX3_HUMAN (see all proteins):
    ACOX2    ACOXL    ACOX1

    ACOX3 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

    10/2042 SNPs in ACOX3 are shown (see all 2042)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1455061141,2
    --8367585(+) TCAGAC/TGCTCA 2 -- int10--------
    rs1912717151,2
    --8367586(+) CAGACA/GCTCAA 2 -- int10--------
    rs8994911,2
    C,F,O,A,H--8367799(+) AGGACA/CCAGAT 2 -- int119Minor allele frequency- C:0.48MN NS EA NA WA 2526
    rs286908301,2
    C,F--8367867(+) CCTGCA/GGGGAG 2 -- int19Minor allele frequency- G:0.21NA WA CSA EA 369
    rs1473010181,2
    C--8367883(+) GTGACC/TGGGGG 2 -- int10--------
    rs1403626581,2
    --8367884(+) TGACCA/GGGGGA 2 -- int10--------
    rs1443259421,2
    C--8367892(+) GGAGGC/TGTGCA 2 -- int10--------
    rs1181824941,2
    C,F--8367908(+) GGCCCC/TGGTCT 2 -- int11Minor allele frequency- T:0.01EA 120
    rs1826629911,2
    --8367951(+) ACAGGA/CCACAT 2 -- int10--------
    rs7082431,2
    C,F--8368039(+) ACTGGC/TGGCAG 2 -- ut3111Minor allele frequency- T:0.33MN NA WA CSA EA 555

    HapMap Linkage Disequilibrium report for ACOX3 (8368009 - 8442452 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/19 variations for ACOX3 (see all 19):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv1516082CNV Deletion17803354
    esv2148081CNV Deletion18987734
    esv2727114CNV Deletion23290073
    esv2727113CNV Deletion23290073
    esv1005399CNV Deletion20482838
    esv2676067CNV Deletion23128226
    nsv4223CNV Insertion18451855
    nsv526508CNV Loss19592680
    dgv5455n71CNV Loss21882294
    dgv5459n71CNV Loss21882294

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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: 603402    OMIM disorders: --

    7 diseases for ACOX3:    About MalaCards
    mutism    zellweger syndrome    peroxisome disorders    narcolepsy
    prostate cancer    prostatitis    leukemia

    2 diseases from the University of Copenhagen DISEASES database for ACOX3:
    Zellweger syndrome     Mutism

    ACOX3 for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for ACOX3 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    zellweger syndrome 79.9 2 2241949 (1), 1770789 (1)

    Genetic Association Database (GAD): ACOX3
    Human Genome Epidemiology (HuGE) Navigator: ACOX3 (2 documents)

    Export disorders for ACOX3 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 ACOX3 gene, integrated from 9 sources (see all 29):
    (articles sorted by number of sources associating them with ACOX3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Evidence for the existence of a pristanoyl-CoA oxidase gene in man. (PubMed id 9271077)1, 2, 3, 9 Vanhooren J.C.T.... van Veldhoven P.P. (1997)
    2. An approach based on a genome-wide association study reveals candidate loci for narcolepsy. (PubMed id 20677014)1, 4 Shimada M....Tokunaga K. (2010)
    3. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (2010)
    4. 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)
    5. Peroxisomal branched chain fatty acid beta-oxidation pathway is upregulated in prostate cancer. (PubMed id 15599942)1, 9 Zha S....Isaacs W.B. (2005)
    6. The CoA esters of 2-methyl-branched chain fatty acids and of the bile acid intermediates di- and trihydroxycoprostanic acids are oxidized by one single peroxisomal branched chain acyl-CoA oxidase in human liver and kidney. (PubMed id 8387517)1, 9 Vanhove G.F....Mannaerts G.P. (1993)
    7. Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (2012)
    8. Association between SNP-genotype and chronic lymphocy tic leukemia outcome in a randomized chemotherapy trial. (PubMed id 21659360)1 Wade R....Houlston R.S. (2011)
    9. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    10. A proteome-wide perspective on peroxisome targeting s ignal 1(PTS1)-Pex5p affinities. (PubMed id 20178365)1 Ghosh D. and Berg J.M. (2010)

    (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: 8310 HGNC: 121 AceView: ACOX3 Ensembl:ENSG00000087008 euGenes: HUgn8310
    ECgene: ACOX3 Kegg: 8310 H-InvDB: ACOX3

    (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 ACOX3 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for ACOX3 gene:
    Search GeneIP for patents involving ACOX3

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



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