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Aliases for AOX1 Gene

Aliases for AOX1 Gene

  • Aldehyde Oxidase 1 2 3 4 5
  • Azaheterocycle Hydroxylase 3 4
  • AO 3 4
  • EC 1.17.3.- 4
  • EC 1.2.3.1 4
  • AOH1 3

External Ids for AOX1 Gene

Previous GeneCards Identifiers for AOX1 Gene

  • GC02P199667
  • GC02P200175
  • GC02P201414
  • GC02P201653
  • GC02P201276
  • GC02P201158
  • GC02P193302
  • GC02P201450

Summaries for AOX1 Gene

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 and xanthinuria type 2. Among its related pathways are Metabolism and Valine, leucine and isoleucine degradation. GO annotations related to this gene include oxidoreductase activity and electron carrier activity. An important paralog of this gene is XDH.

UniProtKB/Swiss-Prot for AOX1 Gene

  • 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 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AOX1 Gene

Genomics for AOX1 Gene

Regulatory Elements for AOX1 Gene

Promoters for AOX1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around AOX1 on UCSC Golden Path with GeneCards custom track

Genomic Location for AOX1 Gene

Chromosome:
2
Start:
200,585,868 bp from pter
End:
200,682,241 bp from pter
Size:
96,374 bases
Orientation:
Plus strand

Genomic View for AOX1 Gene

Genes around AOX1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AOX1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AOX1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AOX1 Gene

Proteins for AOX1 Gene

  • Protein details for AOX1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q06278-AOXA_HUMAN
    Recommended name:
    Aldehyde oxidase
    Protein Accession:
    Q06278
    Secondary Accessions:
    • O14765
    • Q53RR8
    • Q53TV3
    • Q9BYF0
    • Q9UPG6

    Protein attributes for AOX1 Gene

    Size:
    1338 amino acids
    Molecular mass:
    147918 Da
    Cofactor:
    Name=FAD; Xref=ChEBI:CHEBI:57692;
    Cofactor:
    Name=Mo-molybdopterin; Xref=ChEBI:CHEBI:71302;
    Cofactor:
    Name=[2Fe-2S] cluster; Xref=ChEBI:CHEBI:49601;
    Quaternary structure:
    • Homodimer.
    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).
    SequenceCaution:
    • Sequence=AAA96650.1; Type=Frameshift; Positions=284, 286, 294, 302; Evidence={ECO:0000305}; Sequence=AAB83966.1; Type=Frameshift; Positions=284, 286, 294, 302; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for AOX1 Gene

neXtProt entry for AOX1 Gene

Proteomics data for AOX1 Gene at MOPED

Post-translational modifications for AOX1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for AOX1 Gene

Antibody Products

  • R&D Systems Antibodies for AOX1 (Aldehyde Oxidase 1/AOX1)

No data available for DME Specific Peptides for AOX1 Gene

Domains & Families for AOX1 Gene

Suggested Antigen Peptide Sequences for AOX1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q06278

UniProtKB/Swiss-Prot:

AOXA_HUMAN :
  • Contains 1 2Fe-2S ferredoxin-type domain.
  • Belongs to the xanthine dehydrogenase family.
Domain:
  • Contains 1 2Fe-2S ferredoxin-type domain.
  • Contains 1 FAD-binding PCMH-type domain.
Family:
  • Belongs to the xanthine dehydrogenase family.
genes like me logo Genes that share domains with AOX1: view

No data available for Gene Families for AOX1 Gene

Function for AOX1 Gene

Molecular function for AOX1 Gene

GENATLAS Biochemistry:
aldehyde oxidase expressed in glial cell of spinal cord
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=7.1 uM for benzaldehyde (at 25 degrees Celsius and pH 7.5) {ECO:0000269 PubMed:22279051, ECO:0000269 PubMed:22996261, ECO:0000269 PubMed:9224775}; KM=1.3 uM for phthalazine (at 25 degrees Celsius and pH 7.5) {ECO:0000269 PubMed:22279051, ECO:0000269 PubMed:22996261, ECO:0000269 PubMed:9224775}; KM=3.9 uM for phenanthridine (at 25 degrees Celsius and pH 7.5) {ECO:0000269 PubMed:22279051, ECO:0000269 PubMed:22996261, ECO:0000269 PubMed:9224775}; KM=5.2 uM for chloroquinazolinone (at 25 degrees Celsius and pH 7.5) {ECO:0000269 PubMed:22279051, ECO:0000269 PubMed:22996261, ECO:0000269 PubMed:9224775}; KM=0.42 mM for 6-deoxypenciclovir (at 37 degrees Celsius and pH 7) {ECO:0000269 PubMed:22279051, ECO:0000269 PubMed:22996261, ECO:0000269 PubMed:9224775}; KM=0.15 mM for famciclovir (at 37 degrees Celsius and pH 7) {ECO:0000269 PubMed:22279051, ECO:0000269 PubMed:22996261, ECO:0000269 PubMed:9224775}; KM=6.3 uM for N-[(2-dimethylamino)ethyl]acridine-4-carboxamide (at 37 degrees Celsius and pH 7.4) {ECO:0000269 PubMed:22279051, ECO:0000269 PubMed:22996261, ECO:0000269 PubMed:9224775}; Vmax=16 nmol/min/mg enzyme with 6-deoxypenciclovir as substrate {ECO:0000269 PubMed:22279051, ECO:0000269 PubMed:22996261, ECO:0000269 PubMed:9224775}; Vmax=61 nmol/min/mg enzyme with famciclovir as substrate {ECO:0000269 PubMed:22279051, ECO:0000269 PubMed:22996261, ECO:0000269 PubMed:9224775}; Vmax=2.3 nmol/min/mg enzyme with N-[(2- dimethylamino)ethyl]acridine-4-carboxamide as substrate {ECO:0000269 PubMed:22279051, ECO:0000269 PubMed:22996261, ECO:0000269 PubMed:9224775}; 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.;
UniProtKB/Swiss-Prot CatalyticActivity:
An aldehyde + H(2)O + O(2) = a carboxylate + H(2)O(2).
UniProtKB/Swiss-Prot CatalyticActivity:
Retinal + O(2) + H(2)O = retinoate + H(2)O(2).
UniProtKB/Swiss-Prot EnzymeRegulation:
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.
UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot Induction:
In liver, is down-regulated by adiponectin and by the PPARA agonist, fenofibric acid.

Enzyme Numbers (IUBMB) for AOX1 Gene

Gene Ontology (GO) - Molecular Function for AOX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0043546 molybdopterin cofactor binding IEA --
GO:0046872 metal ion binding IEA --
GO:0050660 flavin adenine dinucleotide binding IEA,IBA --
GO:0051287 NAD binding IEA --
GO:0051536 iron-sulfur cluster binding IEA --
genes like me logo Genes that share ontologies with AOX1: view
genes like me logo Genes that share phenotypes with AOX1: view

Animal Model Products

miRNA for AOX1 Gene

miRTarBase miRNAs that target AOX1

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for AOX1 Gene

Localization for AOX1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AOX1 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for AOX1 Gene COMPARTMENTS Subcellular localization image for AOX1 gene
Compartment Confidence
cytosol 5
extracellular 5
mitochondrion 2
peroxisome 2
endoplasmic reticulum 1
nucleus 1

Gene Ontology (GO) - Cellular Components for AOX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
genes like me logo Genes that share ontologies with AOX1: view

Pathways & Interactions for AOX1 Gene

genes like me logo Genes that share pathways with AOX1: view

Gene Ontology (GO) - Biological Process for AOX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006766 vitamin metabolic process TAS --
GO:0006767 water-soluble vitamin metabolic process TAS --
GO:0009115 xanthine catabolic process IBA --
genes like me logo Genes that share ontologies with AOX1: view

No data available for SIGNOR curated interactions for AOX1 Gene

Drugs & Compounds for AOX1 Gene

(52) Drugs for AOX1 Gene - From: Novoseek, DrugBank, HMDB, PharmGKB, and FDA Approved Drugs

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Allopurinol Approved Pharma Enzyme, substrate 129
Brimonidine Approved Pharma Full agonist, Agonist, Enzyme, substrate 0
Famciclovir Approved Pharma Enzyme, substrate 18
Methotrexate Approved Pharma Enzyme, substrate Folate antagonist,inhibits DFHR, Cytotoxic agent 1444
Pyrazinamide Approved Pharma Enzyme, substrate 84

(48) Additional Compounds for AOX1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
molybdopterin
  • MoCo
  • Molybdenum cofactor
  • Molybdenum enzyme molybdenum cofactor
  • Molybdoenzyme molybdenum-containing cofactor
  • Nitrate reductase molybdenum cofactor
73508-07-3
oxygen
  • Dioxygen
  • Molecular oxygen
  • O2
  • Oxygen
  • Oxygen molecule
7782-44-7
(S)-Methylmalonic acid semialdehyde
  • (2S)-2-methyl-3-oxopropanoate
  • (2S)-2-methyl-3-oxopropanoic acid
  • (S)-Methylmalonate semialdehyde
99043-16-0
1-Methylnicotinamide
  • 1-Methyl-3-carbamoylpyridinium
  • 1-Methyl-3-carbamoylpyridinium cation
  • 1-Methylnicotinamide
  • 3-Amido-N-methylpyridinium: 1-methyl-3-Pyridinecarboxamide
  • 3-Carbamoyl-1-methyl-Pyridinium
3106-60-3
2-Methyl-3-oxopropanoic acid
  • 2-Methyl-3-oxopropanoate
  • 2-Methyl-3-oxopropanoic acid
  • 3-Oxo-2-methylpropanoate
  • 3-Oxo-2-methylpropanoic acid
  • Ch3-malonate-semialdehyde
6236-08-4
genes like me logo Genes that share compounds with AOX1: view

Transcripts for AOX1 Gene

Unigene Clusters for AOX1 Gene

Aldehyde oxidase 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for AOX1 Gene

No ASD Table

Relevant External Links for AOX1 Gene

GeneLoc Exon Structure for
AOX1
ECgene alternative splicing isoforms for
AOX1

Expression for AOX1 Gene

mRNA expression in normal human tissues for AOX1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for AOX1 Gene

This gene is overexpressed in Liver (x15.0) and Adrenal Gland (x8.1).

Protein differential expression in normal tissues from HIPED for AOX1 Gene

This gene is overexpressed in Liver, secretome (39.3) and Liver (18.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for AOX1 Gene



SOURCE GeneReport for Unigene cluster for AOX1 Gene Hs.406238

mRNA Expression by UniProt/SwissProt for AOX1 Gene

Q06278-AOXA_HUMAN
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).
genes like me logo Genes that share expression patterns with AOX1: view

Primer Products

In Situ Assay Products

No data available for Protein tissue co-expression partners for AOX1 Gene

Orthologs for AOX1 Gene

This gene was present in the common ancestor of animals.

Orthologs for AOX1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia AOX1 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia AOX1 35
  • 87.99 (n)
  • 86.92 (a)
AOX1 36
  • 86 (a)
OneToOne
dog
(Canis familiaris)
Mammalia -- 36
  • 70 (a)
OneToMany
AOH2 36
  • 61 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Aox1 16
Aox1 35
  • 84.2 (n)
  • 83.45 (a)
Aox1 36
  • 83 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia AOX1 36
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AOX1 36
  • 61 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Aox1 35
  • 83.5 (n)
  • 82.99 (a)
chicken
(Gallus gallus)
Aves AOX1 35
  • 68.92 (n)
  • 66.14 (a)
AOX2P 36
  • 60 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AOX1 36
  • 57 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100495429 35
  • 65.65 (n)
  • 63.23 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.568 35
zebrafish
(Danio rerio)
Actinopterygii aox1 36
  • 55 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG18519 37
  • 31 (a)
CG6045 37
  • 28 (a)
ry 37
  • 44 (a)
CG18516 36
  • 29 (a)
ManyToMany
CG18519 36
  • 28 (a)
ManyToMany
CG18522 36
  • 29 (a)
ManyToMany
CG6045 36
  • 29 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea F15E6.6 36
  • 34 (a)
ManyToMany
gad-3 36
  • 34 (a)
ManyToMany
F15E6.6 37
  • 34 (a)
F55B11.1 37
  • 40 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 29 (a)
ManyToMany
Species with no ortholog for AOX1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for AOX1 Gene

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

Paralogs for AOX1 Gene

Paralogs for AOX1 Gene

(1) SIMAP similar genes for AOX1 Gene using alignment to 4 proteins:

Pseudogenes.org Pseudogenes for AOX1 Gene

genes like me logo Genes that share paralogs with AOX1: view

Variants for AOX1 Gene

Sequence variations from dbSNP and Humsavar for AOX1 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs41309768 - 200,636,968(+) TAAGG(C/T)GTGTT nc-transcript-variant, reference, missense
rs3731722 - 200,669,666(-) GTCCA(C/T)GCAGG nc-transcript-variant, reference, missense
rs58185012 - 200,609,017(+) AGCCC(A/G)GGTGA nc-transcript-variant, reference, missense
rs56199635 - 200,642,716(+) TTTTC(A/C/G)TGGGT nc-transcript-variant, reference, missense
rs55754655 - 200,661,607(+) CATTA(A/G)CCTTT nc-transcript-variant, reference, missense

Variation tolerance for AOX1 Gene

Residual Variation Intolerance Score: 8.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.86; 74.03% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for AOX1 Gene

HapMap Linkage Disequilibrium report
AOX1
Human Gene Mutation Database (HGMD)
AOX1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for AOX1 Gene

Disorders for AOX1 Gene

MalaCards: The human disease database

(6) MalaCards diseases for AOX1 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
xanthinuria
  • xanthinuria, type i
xanthinuria type 2
  • type 2 xanthinuria
xanthinuria, type i
  • xanthinuria type 1
hereditary xanthinuria
  • xanthinuria, type i
molybdenum cofactor deficiency
  • combined deficiency of sulfite oxidase, xanthine dehydrogenase, and aldehyde oxidase
- elite association - COSMIC cancer census association via MalaCards
Search AOX1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for AOX1

Genetic Association Database (GAD)
AOX1
Human Genome Epidemiology (HuGE) Navigator
AOX1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
AOX1
genes like me logo Genes that share disorders with AOX1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for AOX1 Gene

Publications for AOX1 Gene

  1. Analysis of aldehyde oxidase and xanthine dehydrogenase/oxidase as possible candidate genes for autosomal recessive familial amyotrophic lateral sclerosis. (PMID: 7570184) Berger R. … Patterson D. (Somat. Cell Mol. Genet. 1995) 2 3 23 67
  2. Aldehyde oxidase activity and inhibition in hepatocytes and cytosolic fractions from mouse, rat, monkey and human. (PMID: 19356090) Sahi J. … Black C.B. (Drug Metab Lett 2008) 23 25 26
  3. Human liver aldehyde oxidase: inhibition by 239 drugs. (PMID: 14681337) Obach R.S. … Beedham C. (J Clin Pharmacol 2004) 23 25 26
  4. Potent inhibition of human liver aldehyde oxidase by raloxifene. (PMID: 14709625) Obach R.S. (Drug Metab. Dispos. 2004) 23 25 26
  5. Metabolism of zaleplon by human liver: evidence for involvement of aldehyde oxidase. (PMID: 12419014) Lake B.G. … Scatina J.A. (Xenobiotica 2002) 23 25 26

Products for AOX1 Gene

Sources for AOX1 Gene

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