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AOX1 Gene

protein-coding   GIFtS: 66
GCID: GC02P201450

Aldehyde Oxidase 1

  See AOX1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Aldehyde Oxidase 11 2 3     Aldehyde Oxidase2
Azaheterocycle Hydroxylase2 3     EC 1.17.3.-3
AO2 3     EC 1.2.3.13
AOH12     

External Ids:    HGNC: 5531   Entrez Gene: 3162   Ensembl: ENSG000001383567   OMIM: 6028415   UniProtKB: Q062783   

Export aliases for AOX1 gene to outside databases

Previous GC identifers: GC02P199667 GC02P200175 GC02P201414 GC02P201653 GC02P201276 GC02P201158 GC02P193302


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for AOX1 Gene:
Aldehyde oxidase produces hydrogen peroxide and, under certain conditions, can catalyze the formation of
superoxide. Aldehyde oxidase is a candidate gene for amyotrophic lateral sclerosis. (provided by RefSeq, Jul
2008)

GeneCards Summary for AOX1 Gene:
AOX1 (aldehyde oxidase 1) is a protein-coding gene. Diseases associated with AOX1 include xanthinuria type 1, and end stage renal failure. GO annotations related to this gene include electron carrier activity and flavin adenine dinucleotide binding. An important paralog of this gene is XDH.

UniProtKB/Swiss-Prot: AOXA_HUMAN, Q06278
Function: Oxidase with broad substrate specificity, oxidizing aromatic azaheterocycles, such as
N1-methylnicotinamide and N-methylphthalazinium, as well as aldehydes, such as benzaldehyde, retinal, pyridoxal,
and vanillin. Plays a key role in the metabolism of xenobiotics and drugs containing aromatic azaheterocyclic
substituents. Participates in the bioactivation of prodrugs such as famciclovir, catalyzing the oxidation step
from 6-deoxypenciclovir to penciclovir, which is a potent antiviral agent. Is probably involved in the regulation
of reactive oxygen species homeostasis. May be a prominent source of superoxide generation via the one-electron
reduction of molecular oxygen. Also may catalyze nitric oxide (NO) production via the reduction of nitrite to NO
with NADH or aldehyde as electron donor. May play a role in adipogenesis

Gene Wiki entry for AOX1 (Aldehyde oxidase 1) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000002.11  NC_018913.2  NT_005403.18  
Regulatory elements:
   Regulatory transcription factor binding sites in the AOX1 gene promoter:
         Nkx3-1   GR   Nkx3-1 v4   NRSF form 1   Nkx3-1 v1   Nkx2-5   NRSF form 2   Nkx3-1 v2   Nkx3-1 v3   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidAOX1 promoter sequence
   Search Chromatin IP Primers for AOX1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat AOX1


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

Entrez Gene cytogenetic band: 2q33   Ensembl cytogenetic band:  2q33.1   HGNC cytogenetic band: 2q33

AOX1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AOX1 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P201450:  view genomic region     (about GC identifiers)

Start:
201,450,591 bp from pter      End:
201,541,787 bp from pter
Size:
91,197 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: AOXA_HUMAN, Q06278 (See protein sequence)
Recommended Name: Aldehyde oxidase  
Size: 1338 amino acids; 147918 Da
Cofactor: Binds 2 2Fe-2S clusters per subunit
Cofactor: Binds 1 FAD per subunit
Cofactor: Binds 1 molybdenum-molybdopterin (Mo-MPT) cofactor per subunit
Subunit: Homodimer
Developmental stage: Not detected in preadipocytes but strongly induced in mature adipocytes
Miscellaneous: AOX genes evolved from a xanthine oxidoreductase ancestral precursor via a series of gene
duplication and suppression/deletion events. Different animal species contain a different complement of AOX genes
encoding an equivalent number of AOX isoenzymes. In mammals, the two extremes are represented by certain rodents
such as mice and rats, which are endowed with 4 AOX genes, and by humans, whose genome is characterized by a
single active gene (PubMed:22335465)
Caution: Was originally (PubMed:8248161) thought to be a xanthine dehydrogenase
Sequence caution: Sequence=AAA96650.1; Type=Frameshift; Positions=284, 286, 294, 302; Sequence=AAB83966.1;
Type=Frameshift; Positions=284, 286, 294, 302;
Secondary accessions: O14765 Q53RR8 Q53TV3 Q9BYF0 Q9UPG6

Explore the universe of human proteins at neXtProt for AOX1: NX_Q06278

Explore proteomics data for AOX1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See AOX1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001150.3  
    ENSEMBL proteins: 
     ENSP00000363832   ENSP00000392485   ENSP00000260930   ENSP00000413326  
    Reactome Protein details: Q06278

    AOX1 Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 14):
     IPR016208 Ald_Oxase/xanthine_DH
     IPR014313 Aldehyde_oxidase
     IPR002346 Mopterin_DH_FAD-bd
     IPR012675 Beta-grasp_dom
     IPR002888 2Fe-2S-bd

    Graphical View of Domain Structure for InterPro Entry Q06278

    ProtoNet protein and cluster: Q06278

    Selected Blocks protein domains (see all 6):
    IPB000674 Aldehyde oxidase and xanthine dehydrogenase
    IPB001041 Ferredoxin
    IPB002346 Molybdopterin dehydrogenase
    IPB002888 [2Fe-2S]-binding
    IPB005107 CO dehydrogenase flavoprotein C-terminal domain


    UniProtKB/Swiss-Prot: AOXA_HUMAN, Q06278
    Similarity: Belongs to the xanthine dehydrogenase family
    Similarity: Contains 1 2Fe-2S ferredoxin-type domain
    Similarity: Contains 1 FAD-binding PCMH-type domain


    Find genes that share domains with AOX1           About GenesLikeMe


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

         UniProtKB/Swiss-Prot Summary: AOXA_HUMAN, Q06278
    Function: Oxidase with broad substrate specificity, oxidizing aromatic azaheterocycles, such as
    N1-methylnicotinamide and N-methylphthalazinium, as well as aldehydes, such as benzaldehyde, retinal, pyridoxal,
    and vanillin. Plays a key role in the metabolism of xenobiotics and drugs containing aromatic azaheterocyclic
    substituents. Participates in the bioactivation of prodrugs such as famciclovir, catalyzing the oxidation step
    from 6-deoxypenciclovir to penciclovir, which is a potent antiviral agent. Is probably involved in the regulation
    of reactive oxygen species homeostasis. May be a prominent source of superoxide generation via the one-electron
    reduction of molecular oxygen. Also may catalyze nitric oxide (NO) production via the reduction of nitrite to NO
    with NADH or aldehyde as electron donor. May play a role in adipogenesis
    Catalytic activity: An aldehyde + H(2)O + O(2) = a carboxylate + H(2)O(2)
    Catalytic activity: Retinal + O(2) + H(2)O = retinoate + H(2)O(2)
    Enzyme regulation: Is very potently inhibited by raloxifene. Also inhibited by estradiol, ethinyl estradiol,
    hydralazine, menadione, and isovanillin. Not inhibited by allopurinol, a xanthine dehydrogenase potent inhibitor
    Biophysicochemical properties: Kinetic parameters: KM=7.1 uM for benzaldehyde (at 25 degrees Celsius and pH 7.5);
    KM=1.3 uM for phthalazine (at 25 degrees Celsius and pH 7.5); KM=3.9 uM for phenanthridine (at 25 degrees Celsius
    and pH 7.5); KM=5.2 uM for chloroquinazolinone (at 25 degrees Celsius and pH 7.5); KM=0.42 mM for
    6-deoxypenciclovir (at 37 degrees Celsius and pH 7); KM=0.15 mM for famciclovir (at 37 degrees Celsius and pH 7);
    KM=6.3 uM for N-[(2-dimethylamino)ethyl]acridine-4-carboxamide (at 37 degrees Celsius and pH 7.4); Vmax=16
    nmol/min/mg enzyme with 6-deoxypenciclovir as substrate; Vmax=61 nmol/min/mg enzyme with famciclovir as
    substrate; Vmax=2.3 nmol/min/mg enzyme with N-[(2- dimethylamino)ethyl]acridine-4-carboxamide as substrate;
    Note=kcat is 6.4 min(-1) for benzaldehyde oxidation, 5.6 min(-1) for phthalazine oxidation, 12.2 min(-1) for
    phenanthridine oxidation and 5.6 min(-1) for chloroquinazolinone oxidation;
    Induction: In liver, is down-regulated by adiponectin and by the PPARA agonist, fenofibric acid

         Genatlas biochemistry entry for AOX1:
    aldehyde oxidase expressed in glial cell of spinal cord

         Enzyme Numbers (IUBMB): EC 1.17.3.-1 EC 1.2.3.11

         Gene Ontology (GO): Selected molecular function terms (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0004031aldehyde oxidase activity TAS--
    GO:0004854xanthine dehydrogenase activity TAS8248161
    GO:0005506iron ion binding IEA--
    GO:0008762UDP-N-acetylmuramate dehydrogenase activity IEA--
         
    Find genes that share ontologies with AOX1           About GenesLikeMe


    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for AOX1

    miRNA
    Products:
        
    miRTarBase miRNAs that target AOX1:
    hsa-mir-26b-5p (MIRT029520)

    Block miRNA regulation of human, mouse, rat AOX1 using miScript Target Protectors
    4 qRT-PCR Assays for microRNAs that regulate AOX1:
    hsa-miR-34a* hsa-miR-877 hsa-miR-3916 hsa-miR-3125
    SwitchGear 3'UTR luciferase reporter plasmidAOX1 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    AOXA_HUMAN, Q06278: Cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol3
    mitochondrion2
    peroxisome2

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ----
    GO:0005829cytosol TAS--
    GO:0070062extracellular vesicular exosome IDA19056867

    Find genes that share ontologies with AOX1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for AOX1 About   (see all 12)  
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Tryptophan metabolism
    Tryptophan metabolism0.46
    Tryptophan metabolism0.46
    2Nicotinate and nicotinamide metabolism
    Nicotinate and nicotinamide metabolism0.43
    NAD metabolism0.43
    3Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    4Vitamin B6 metabolism
    Vitamin B6 metabolism
    Vitamins B6 activation to pyridoxal phosphate0.00
    5Nicotine Pathway, Pharmacokinetics
    Nicotine Pathway, Pharmacokinetics
    Nicotine metabolism0.00


    Find genes that share SuperPaths with AOX1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for AOX1
        NAD metabolism

    4 BioSystems Pathways for AOX1
        nicotine degradation IV
    nicotine degradation III
    Nicotine metabolism
    Tryptophan metabolism


    1 Reactome Pathway for AOX1
        Vitamins B6 activation to pyridoxal phosphate

    2 PharmGKB Pathways for AOX1
        Nicotine Pathway, Pharmacokinetics
    Thiopurine Pathway, Pharmacokinetics/Pharmacodynamics

    Selected Kegg Pathways  (Kegg details for AOX1) (see all 8):
        Valine, leucine and isoleucine degradation
    Tyrosine metabolism
    Tryptophan metabolism
    Vitamin B6 metabolism
    Nicotinate and nicotinamide metabolism

        Pathway & Disease-focused RT2 Profiler PCR Arrays including AOX1: 
              Amino Acid Metabolism I in human mouse rat
              Oxidative Stress in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for AOX1

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

    Selected Interacting proteins for AOX1 (Q062783 ENSP000003638324) via UniProtKB, MINT, STRING, and/or I2D (see all 24)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ABCA1O954773, ENSP000003638684I2D: score=2 STRING: ENSP00000363868
    CYP2U1ENSP000003332124STRING: ENSP00000333212
    CYP4X1ENSP000003609684STRING: ENSP00000360968
    MAOAENSP000003406844STRING: ENSP00000340684
    MAOBENSP000003673094STRING: ENSP00000367309
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006766vitamin metabolic process TAS--
    GO:0006767water-soluble vitamin metabolic process TAS--
    GO:0006954inflammatory response TAS8248161
    GO:0042816vitamin B6 metabolic process TAS--
    GO:0044281small molecule metabolic process TAS--

    Find genes that share ontologies with AOX1           About GenesLikeMe



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

    Browse Tocris compounds for AOX1 (AOXA)

    Selected HMDB Compounds for AOX1 (see all 20)    About this table
    CompoundSynonyms CAS #PubMed Ids
    4-Pyridoxic acid2-Methyl-3-hydroxy-4-carboxy-5-hydroxymethylpyridine (see all 18)82-82-6939227
    (S)-Methylmalonic acid semialdehyde(S)-Methylmalonate semialdehyde (see all 3)99043-16-0--
    1-Methylnicotinamide1-Methyl-3-carbamoylpyridinium (see all 13)3106-60-3--
    5-Hydroxyindoleacetaldehyde(5-hydroxy-1H-indol-3-yl)acetaldehyde (see all 6)1892-21-3--
    5-Hydroxyindoleacetic acid5-Hydroxy-1H-indole-3-acetate (see all 18)54-16-0--
    Cotinine(-)-Cotinine (see all 6)486-56-6--
    FAD1H-Purin-6-amine flavin dinucleotide (see all 21)146-14-5--
    Gentisate aldehyde2,5-Dihydroxybenzaldehyde polymer (see all 3)1194-98-5--
    Gentisic acid2,5-Dihydroxybenzoate (see all 20)490-79-9--
    Heme(protoporphyrinato)iron (see all 19)14875-96-8--

    Selected DrugBank Compounds for AOX1 (see all 13)    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    MethotrexateAmethopterin (see all 12)59-05-2enzymesubstrate10385213 19644884 20444863
    RaloxifeneLY-139481 (see all 6)84449-90-1enzymeinhibitor14709625 19356090 14681337
    FamciclovirFamciclovirum [INN-Latin] (see all 2)104227-87-4enzymesubstrate9224775 12161167
    NADHbeta-DPNH (see all 18)606-68-8enzymesubstrate19801639 10687026
    Zaleplon-- 151319-34-5enzymesubstrate14709625 12419014
    ZonisamideZonisamida [Spanish] (see all 2)68291-97-4enzymesubstrate8742231 11456132
    AllopurinolAllopurinol Sodium (see all 3)315-30-0enzymesubstrate8216357
    Aminocaproic Acid6-aminohexanoic acid (see all 7)60-32-2enzymesubstrate2502880
    BrimonidineBrimonidine tartrate (see all 2)59803-98-4enzymesubstrate8905918
    Ethyl carbamateAethylcarbamat [german] (see all 20)51-79-6enzymesubstrate6689178

    Selected Novoseek inferred chemical compound relationships for AOX1 gene (see all 70)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    xanthine 87.3 105 1449601 (5), 15569272 (3), 15230339 (3), 7570184 (2) (see all 67)
    moco 85.6 7 10327149 (1), 17368066 (1), 10746556 (1), 11549764 (1) (see all 5)
    ipdr 85.3 9 1599512 (2), 8168099 (1), 9516958 (1)
    molybdenum 85.1 39 11302742 (3), 8302261 (2), 16784786 (2), 12385777 (1) (see all 28)
    5-hydroxypyrazinamide 83.7 3 10481935 (1), 8216357 (1)
    isovanillin 82.3 3 11569533 (1), 9516958 (1), 7736920 (1)
    abscisic aldehyde 82.1 2 11050171 (2)
    n(1)-methylnicotinamide 80 3 19960564 (1), 8654204 (1), 9161710 (1)
    2-hydroxypyrimidine 77.6 1 11456132 (1)
    menadione 77.3 14 10385213 (2), 8149871 (1), 11456132 (1), 2170242 (1) (see all 11)

    1 PharmGKB related drug/compound annotation for AOX1 gene    About this table
    Drug/compound PharmGKB Annotation
    azathioprineCA  



    Find genes that share compounds with AOX1           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for AOX1 gene: 
    NM_001159.3  

    Unigene Cluster for AOX1:

    Aldehyde oxidase 1
    Hs.406238  [show with all ESTs]
    Unigene Representative Sequence: L11005
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000374700(uc002uvx.3 uc010zhf.2 uc010fsu.3) ENST00000454629
    ENST00000485965 ENST00000465297 ENST00000485106 ENST00000472553 ENST00000260930
    ENST00000439380
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    hsa-miR-34a* hsa-miR-877 hsa-miR-3916 hsa-miR-3125
    SwitchGear 3'UTR luciferase reporter plasmidAOX1 3' UTR sequence
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      QuantiFast Probe-based Assays in human, mouse, rat AOX1

    Additional mRNA sequence: 

    AB046692.1 AK297930.1 AK301052.1 AK307738.1 BC117179.1 BC117181.1 L11005.1 

    6 DOTS entries:

    DT.445122  DT.100820510  DT.100820508  DT.92063691  DT.99997703  DT.120971915 

    Selected AceView cDNA sequences (see all 130):

    CB162076 AV656539 BG620783 BQ774999 CO249741 AV645676 CF552167 BQ227352 
    BX280924 AW292258 CA392327 BG617280 AB046692 BG618224 BM264288 AA371049 
    AL049080 BP363893 BQ009893 NM_001159 AI435836 CA422886 BU616780 BX509550 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    AOX1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CATAAATATT
    AOX1 Expression
    About this image


    AOX1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 8) fully expand
     
     Brain (Nervous System)    fully expand to see all 5 entries
             Adult Endothelial Cells Blood Brain Barrier
             Cerebral Cortex
     
     Liver (Hepatobiliary System)    fully expand to see all 2 entries
             Hepatocytes Liver Lobule
     
     Epithelial Cells
             Mature Choroid Plexus Cells Choroid Plexus
     
     Heart (Cardiovascular System)
             Atrioventricular Node Cells Atrioventricular Node
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
    AOX1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    AOX1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.406238

    UniProtKB/Swiss-Prot: AOXA_HUMAN, Q06278
    Tissue specificity: Abundant in liver, expressed in adipose tissue and at lower levels in lung, skeletal muscle,
    pancreas. In contrast to mice, no significant gender difference in AOX1 expression level (at protein level)

        Pathway & Disease-focused RT2 Profiler PCR Arrays including AOX1: 
              Amino Acid Metabolism I in human mouse rat
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for AOX1 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Aox11 , 5 aldehyde oxidase 11, 5 84.2(n)1
    83.45(a)1
      1 (28.86 cM)5
    117611  NM_009676.21  NP_033806.21 
     580299315 
    chicken
    (Gallus gallus)
    Aves AOX11 aldehyde oxidase 1 68.92(n)
    66.14(a)
      424071  NM_001038692.1  NP_001033781.1 
    lizard
    (Anolis carolinensis)
    Reptilia AOX16
    aldehyde oxidase 1
    57(a)
    1 ↔ 1
    1(118008643-118069785)
    African clawed frog
    (Xenopus laevis)
    Amphibia BJ094105.12   -- 76.44(n)    BJ094105.1 
    zebrafish
    (Danio rerio)
    Actinopterygii aox16
    aldehyde oxidase 1
    55(a)
    1 ↔ 1
    22(14196009-14228138) ENSDARG00000020054
    fruit fly
    (Drosophila melanogaster)
    Insecta ry3 xanthine dehydrogenase 44(a)
    (best of 3)
      3 87D9   --
    worm
    (Caenorhabditis elegans)
    Secernentea F55B11.13 xanthine dehydrogenase 40(a)
    (best of 2)
      IV(14401351-14413053)   --


    ENSEMBL Gene Tree for AOX1 (if available)
    TreeFam Gene Tree for AOX1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for AOX1 gene
    XDH2  
    1 SIMAP similar gene for AOX1 using alignment to 4 protein entries:     AOXA_HUMAN (see all proteins):
    XDH

    Find genes that share paralogs with AOX1           About GenesLikeMe


    2 Pseudogenes.org Pseudogenes for AOX1
    PGOHUM00000241059 PGOHUM00000241060


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for AOX1 (see all 2017)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs46741971,2
    F--201449374(+) CTTTAG/CATCTA 1 -- us2k14Minor allele frequency- C:0.05NA EA 244
    rs126210631,2
    C,F,A,H--201449442(+) AGCCAC/AATTCA 1 -- us2k126Minor allele frequency- A:0.31NS EA NA WA CSA 2772
    rs1931239801,2
    --201449526(+) TTTAGA/GTCAAA 1 -- us2k10--------
    rs1436890321,2
    --201449633(+) GTTGCA/GGCTGA 1 -- us2k10--------
    rs1164601991,2
    F--201449712(+) TACTAC/GAAAAA 1 -- us2k11Minor allele frequency- G:0.01WA 118
    rs20720341,2
    C,F,O,A,H--201449734(+) CAAAAC/GGTTGA 1 -- us2k138Minor allele frequency- G:0.36EA NS NA WA CSA 4988
    rs1467980871,2
    C--201449743(+) GACCAA/C/TTGTTA 1 -- us2k10--------
    rs126218521,2
    C,F,H--201449867(+) ATGTTC/TTAAGG 1 -- us2k11Minor allele frequency- T:0.33NA 6
    rs168337931,2
    C,F--201449887(+) TGAAAG/AAAGCC 1 -- us2k13Minor allele frequency- A:0.13NA 136
    rs725420931,2
    C--201449887(+) TGAAA-/GARAGC 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for AOX1 (201450591 - 201541787 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for AOX1: --
    Human Gene Mutation Database (HGMD): AOX1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing AOX1
    DNA2.0 Custom Variant and Variant Library Synthesis for AOX1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 602841    OMIM disorders: --

    5 diseases for AOX1:    
    About MalaCards
    xanthinuria type 1    end stage renal failure    molybdenum cofactor deficiency    lateral sclerosis
    amyotrophic lateral sclerosis


    Find genes that share disorders with AOX1           About GenesLikeMe

    10 Novoseek inferred disease relationships for AOX1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    molybdenum cofactor deficiency 90.6 11 9634514 (1), 12385777 (1), 9415683 (1), 19544009 (1) (see all 7)
    xanthinuria, type ii 90.1 3 11302742 (2), 17368066 (1)
    xanthinuria, type i 88.7 1 8216357 (1)
    xanthinuria 87.7 3 9510406 (1), 8216357 (1)
    tumors 2.72 3 8168099 (1), 17992631 (1), 9816221 (1)
    genetic disorder 0 1 15115759 (1)
    neurological disorders 0 2 12385777 (1), 10701843 (1)
    renal disease 0 1 15734728 (1)
    amyotrophic lateral sclerosis 0 1 7570184 (1)
    influenza 0 1 9631526 (1)

    Genetic Association Database (GAD): AOX1
    Human Genome Epidemiology (HuGE) Navigator: AOX1 (5 documents)

    Export disorders for AOX1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for AOX1 gene, integrated from 10 sources (see all 207):
    (articles sorted by number of sources associating them with AOX1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Analysis of aldehyde oxidase and xanthine dehydrogenase/oxidase as possible candidate genes for autosomal recessive familial amyotrophic lateral sclerosis. (PubMed id 7570184)1, 3, 9 Berger R....Patterson D. (Somat. Cell Mol. Genet. 1995)
    2. Novel pharmacogenetic markers for treatment outcome in azathioprine-treated inflammatory bowel disease. (PubMed id 19500084)1, 4, 9 Smith M.A....Sanderson J.D. (amp 2009)
    3. Mutation of human molybdenum cofactor sulfurase gene is responsible to classical xanthinuria type II. (PubMed id 11302742)1, 2, 9 Ichida K.... Nishino T. (Biochem. Biophys. Res. Commun. 2001)
    4. In vitro oxidation of famciclovir and 6-deoxypenciclovir by aldehyde oxidase from human, guinea pig, rabbit, and rat liver. (PubMed id 9224775)2, 7, 9 Rashidi M.R....Beedham C. (Drug Metab. Dispos. 1997)
    5. Characterization of aldehyde oxidase enzyme activity in cryopreserved human hepatocytes. (PubMed id 22031625)1, 2 Hutzler J.M....Fisher M.B. (Drug Metab. Dispos. 2012)
    6. Hydralazine as a selective probe inactivator of aldehyde oxidase in human hepatocytes: estimation of the contribution of aldehyde oxidase to metabolic clearance. (PubMed id 22522748)1, 2 Strelevitz T.J....Obach R.S. (Drug Metab. Dispos. 2012)
    7. The impact of single nucleotide polymorphisms on human aldehyde oxidase. (PubMed id 22279051)1, 2 Hartmann T....LeimkA1hler S. (Drug Metab. Dispos. 2012)
    8. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    9. Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. (PubMed id 20800603)1, 4 Flachsbart F....Nebel A. (Mutat. Res. 2010)
    10. In vitro-in vivo correlation for intrinsic clearance for drugs metabolized by human aldehyde oxidase. (PubMed id 20444863)2, 7 Zientek M....Obach R.S. (Drug Metab. Dispos. 2010)

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

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

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 316 HGNC: 553 AceView: AOX1 Ensembl:ENSG00000138356 euGenes: HUgn316
    ECgene: AOX1 Kegg: 316 H-InvDB: AOX1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for AOX1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for AOX1 gene:
    Search GeneIP for patents involving AOX1

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from genOway)
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