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

AOX1 Gene

protein-coding   GIFtS: 67
GCID: GC02P201450

Aldehyde Oxidase 1

Microbiology & Infectious Diseases Congress
  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
Aldehyde Oxidase 11 2
AO2 3
EC 1.2.3.13 8
AOH12
Aldehyde Oxidase2

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

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 molybdenum cofactor deficiency, and among its related super-pathways are pyridoxal 5-phosphate salvage pathway and Nicotine metabolism. GO annotations related to this gene include electron carrier activity and flavin adenine dinucleotide binding. An important paralog of this gene is XDH.

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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NT_005403.17  NC_018913.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for AOX1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 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: ADO_HUMAN, Q06278 (See protein sequence)
Recommended Name: Aldehyde oxidase  
Size: 1338 amino acids; 147918 Da
Cofactor: Binds 2 2Fe-2S clusters
Cofactor: FAD
Cofactor: Molybdopterin
Subunit: Homodimer
Subcellular location: Cytoplasm
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q06278

  • 4/21 DME Specific Peptides for AOX1 (Q06278) (see all 21)
     AFRQAQR  QVKDILAD  KHGRAVRC  VEFKRTLI 

    AOX1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    AOX1 Protein Expression
    REFSEQ proteins: NP_001150.3  
    ENSEMBL proteins: 
     ENSP00000363832   ENSP00000392485   ENSP00000260930   ENSP00000413326  
    Reactome Protein details: Q06278
    Human Recombinant Protein Products for AOX1: 
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    Novus Biologicals AOX1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for AOX1 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA--
    GO:0005829cytosol TAS--

    AOX1 for ontologies           About GeneDecksing



    AOX1 Antibody Products: 
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    Assay Products for AOX1: 
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    Cloud-Clone Corp. CLIAs for AOX1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/14 InterPro protein domains (see all 14):
     IPR016208 Ald_Oxase/xanthine_DH
     IPR014313 Aldehyde_oxidase
     IPR001041 2Fe-2S_ferredoxin-type
     IPR002346 Mopterin_DH_FAD-bd
     IPR012675 Beta-grasp_dom

    Graphical View of Domain Structure for InterPro Entry Q06278

    ProtoNet protein and cluster: Q06278

    5/6 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: ADO_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


    AOX1 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: ADO_HUMAN, Q06278
    Catalytic activity: An aldehyde + H(2)O + O(2) = a carboxylate + H(2)O(2)

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

         Enzyme Number (IUBMB): EC 1.2.3.11 2

         Gene Ontology (GO): 5/14 molecular function terms (GO ID links to tree view) (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--
         
    AOX1 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for AOX1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for AOX1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for AOX1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for AOX1 

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat AOX1
    4 QIAGEN miScript miRNA 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
    Products:
        
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    Clone
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                         Customized lentivirus expression plasmids for stable overexpression of AOX1 

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AOX1


    (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 AOX1 About   (see all 11)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Vitamins B6 activation to pyridoxal phosphate
    Vitamins B6 activation to pyridoxal phosphate0.67
    Vitamin B6 metabolism0.50
    2Nicotine Pathway, Pharmacokinetics
    Nicotine Pathway, Pharmacokinetics0.60
    Nicotine metabolism0.60
    3Tryptophan metabolism
    Tryptophan metabolism0.46
    Tryptophan metabolism0.46
    4NAD metabolism
    NAD metabolism0.43
    Nicotinate and nicotinamide metabolism0.43
    5Metabolism
    Metabolism0.40
    Metabolic pathways0.40

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for AOX1
        NAD metabolism


    1 GeneGo (Thomson Reuters) Pathway for AOX1
        NAD metabolism

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


    4        Reactome Pathways for AOX1
        Vitamins B6 activation to pyridoxal phosphate
    Metabolism
    Metabolism of vitamins and cofactors
    Metabolism of water-soluble vitamins and cofactors

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

    5/8         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


    AOX1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for AOX1

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

    5/23 Interacting proteins for AOX1 (Q062783 ENSP000003638324) via UniProtKB, MINT, STRING, and/or I2D (see all 23)
    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): 5/7 biological process terms (GO ID links to tree view) (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--

    AOX1 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

    AOX1 for compounds           About GeneDecksing

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

    Browse Tocris compounds for AOX1 (ADO)

    10/20 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--

    10/13 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

    10/70 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)

    Search CenterWatch for drugs/clinical trials and news about AOX1 / ADO

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

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    SwitchGear 3'UTR luciferase reporter plasmidAOX1 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector: AOX1 (NM_001159)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for AOX1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AOX1
    Sirion Biotech Customized lentivirus for stable overexpression of AOX1 
                         Customized lentivirus expression plasmids for stable overexpression of AOX1 
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat AOX1
      QIAGEN 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 

    24/130 AceView cDNA sequences (see all 130):

    BG618224 BQ774999 CB162076 CO249741 AB046692 AW292258 BG620783 AV656539 
    BM264288 CA392327 CF552167 AA371049 AV645676 BQ227352 BX280924 BG617280 
    AV647749 BQ008350 AI435836 CA405829 BM727618 CA449460 BP341559 CA443736 

    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™, 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

    AOX1 expression in normal human tissues (normalized intensities)      AOX1 embryonic expression: see
    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 
     5/26 selected tissues (see all 26) fully expand
     
     Adipose (Muscoskeletal System)    fully expand to see all 5 entries
             HyStem+BMP4-induced 7SMOO32 cells
             Human Preadipocyte-visceral (HPA-v)   
             omental adipose tissue   
     
     Brain (Nervous System)    fully expand to see all 5 entries
             Mature Choroid Plexus Cells Choroid Plexus
             Cerebral Cortex
     
     Fibroblast (Uncategorized)    fully expand to see all 5 entries
             Human Prostate Fibroblasts (HPrF)   
     
     Colon (Gastrointestinal Tract)    fully expand to see all 4 entries
             colon ; peripheral nerve/ganglion   
     
     Liver (Hepatobiliary System)    fully expand to see all 3 entries
             Hepatocytes Liver Lobule
             liver ; bile duct cells   

    See AOX1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for AOX1

    SOURCE GeneReport for Unigene cluster: Hs.406238

    UniProtKB/Swiss-Prot: ADO_HUMAN, Q06278
    Tissue specificity: Abundant in liver, lower levels in lung, skeletal muscle, pancreas. Undetected in heart, brain
    and kidney

        SABiosciences Expression via Pathway-Focused PCR Arrays including AOX1: 
              Amino Acid Metabolism I in human mouse rat
              Oxidative Stress in human mouse rat

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AOX1

    (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 animals.

    Orthologs for AOX1 gene from 6/14 species (see all 14)    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 
    African clawed frog
    (Xenopus laevis)
    Amphibia BJ094105.12   -- 76.44(n)    BJ094105.1 
    zebrafish
    (Danio rerio)
    Actinopterygii aox11 aldehyde oxidase 1 60.32(n)
    55.95(a)
      570457  XM_693938.4  XP_699030.4 
    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)
    About This Section
    Paralogs for AOX1 gene
    XDH2  
    1 SIMAP similar gene for AOX1 using alignment to 4 protein entries:     ADO_HUMAN (see all proteins):
    XDH

    AOX1 for paralogs           About GeneDecksing


    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) 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

    10/2014 SNPs in AOX1 are shown (see all 2014)    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
    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: 602841    OMIM disorders: --

    20/27 diseases for AOX1 (see all 27):    About MalaCards
    xanthinuria type 1    molybdenum cofactor deficiency    hemopneumothorax    end stage renal failure
    lateral sclerosis    benign meningioma    amyotrophic lateral sclerosis    type 1 diabetes mellitus
    type 1 diabetes    influenza    cytochrome p450    intrahepatic cholangiocarcinoma
    cholangiocarcinoma    inflammatory bowel disease    diabetes mellitus    meningioma
    parkinson's disease    alcoholism    colon cancer    tuberculosis


    AOX1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    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)
    About This Section

    PubMed articles for AOX1 gene, integrated from 9 sources (see all 202):
    (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. (1995)
    2. Novel pharmacogenetic markers for treatment outcome i n azathioprine-treated inflammatory bowel disease. (PubMed id 19500084)1, 4, 9 Smith M.A....Sanderson J.D. (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. (2001)
    4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    5. Investigation of genetic susceptibility factors for h uman longevity - A targeted nonsynonymous SNP study. (PubMed id 20800603)1, 4 Flachsbart F....Nebel A. (2010)
    6. Genetic variants in TPMT and COMT are associated with hearing loss in children receiving cisplatin chemotherapy. (PubMed id 19898482)1, 4 Ross C.J....Hayden M.R. (2009)
    7. cDNA cloning, characterization, and tissue-specific expression of human xanthine dehydrogenase/xanthine oxidase. (PubMed id 8248161)1, 2 Wright R.M....Repine J.E. (1993)
    8. Human aldehyde oxidase 1 interacts with ATP-binding cassette transporter-1 and modulates its activity in hepatocytes. (PubMed id 17992631)1, 9 Sigruener A....Schmitz G. (2007)
    9. Purification and mechanism of human aldehyde oxidase expressed in Escherichia coli. (PubMed id 19741035)1, 9 Alfaro J.F....Jones J.P. (2009)
    10. Aldehyde oxidase-catalysed oxidation of methotrexate in the liver of guinea-pig, rabbit and man. (PubMed id 10385213)7, 9 Jordan C.G....Beedham C. (1999)

    (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: 316 HGNC: 553 AceView: AOX1 Ensembl:ENSG00000138356 euGenes: HUgn316
    ECgene: AOX1 Kegg: 316 H-InvDB: AOX1

    (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 AOX1 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 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



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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