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Aliases for AOX1 Gene

Aliases for AOX1 Gene

  • Aldehyde Oxidase 1 2 3 4
  • Azaheterocycle Hydroxylase 3 4
  • AO 3 4
  • Aldehyde Oxidase 3
  • 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 end stage renal failure and xanthinuria. Among its related pathways are Disease and Metabolism. 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 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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for AOX1 Gene

Start:
200,585,868 bp from pter
End:
200,677,064 bp from pter
Size:
91,197 bases
Orientation:
Plus strand

Genomic View for AOX1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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; Note=Binds 1 FAD per subunit.;
    Cofactor:
    Name=Mo-molybdopterin; Xref=ChEBI:CHEBI:71302; Note=Binds 1 Mo-molybdopterin (Mo-MPT) cofactor per subunit.;
    Cofactor:
    Name=[2Fe-2S] cluster; Xref=ChEBI:CHEBI:49601; Note=Binds 2 [2Fe-2S] clusters per subunit.;
    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};

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

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for AOX1 Gene

Domains 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 :
  • Q06278
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:0003824 catalytic activity --
GO:0004031 aldehyde oxidase activity TAS --
GO:0004854 xanthine dehydrogenase activity TAS 8248161
GO:0005506 iron ion binding IEA --
GO:0008762 UDP-N-acetylmuramate dehydrogenase activity IEA --
genes like me logo Genes that share ontologies with AOX1: view

Animal Model Products

CRISPR Products

miRNA for AOX1 Gene

miRTarBase miRNAs that target AOX1

No data available for Phenotypes , Animal Models , Transcription Factor Targeting 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 3
mitochondrion 2
peroxisome 2

Gene Ontology (GO) - Cellular Components for AOX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
GO:0005829 cytosol TAS --
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with AOX1: view

Pathways for AOX1 Gene

SuperPathways for AOX1 Gene

Superpath Contained pathways
1 Defective BTD causes biotidinase deficiency
2 Metabolism
3 Nicotinate and nicotinamide metabolism
4 Chemical carcinogenesis
5 Vitamin B6 metabolism
genes like me logo Genes that share pathways with AOX1: view

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

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:0006954 inflammatory response TAS 8248161
GO:0042816 vitamin B6 metabolic process TAS --
GO:0044281 small molecule metabolic process TAS --
genes like me logo Genes that share ontologies with AOX1: view

Compounds for AOX1 Gene

(20) HMDB Compounds for AOX1 Gene

Compound Synonyms Cas Number PubMed IDs
(S)-Methylmalonic acid semialdehyde
  • (S)-Methylmalonate semialdehyde
99043-16-0
1-Methylnicotinamide
  • 1-Methyl-3-carbamoylpyridinium
3106-60-3
4-Pyridoxic acid
  • 2-Methyl-3-hydroxy-4-carboxy-5-hydroxymethylpyridine
82-82-6
5-Hydroxyindoleacetaldehyde
  • (5-hydroxy-1H-indol-3-yl)acetaldehyde
1892-21-3
5-Hydroxyindoleacetic acid
  • 5-Hydroxy-1H-indole-3-acetate
54-16-0

(13) Drugbank Compounds for AOX1 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Allopurinol
  • Allopurinol Sodium
315-30-0 enzyme substrate
Aminocaproic Acid
  • 6-aminohexanoic acid
60-32-2 enzyme substrate
Brimonidine
  • Brimonidine tartrate
59803-98-4 enzyme substrate
Ethyl carbamate
  • Aethylcarbamat [german]
51-79-6 enzyme substrate
Famciclovir
  • Famciclovirum [INN-Latin]
104227-87-4 enzyme substrate

(70) Novoseek inferred chemical compound relationships for AOX1 Gene

Compound -log(P) Hits PubMed IDs
xanthine 87.3 85
moco 85.6 5
ipdr 85.3 4
molybdenum 85.1 32
5-hydroxypyrazinamide 83.7 2

(1) PharmGKB related drug/compound annotations for AOX1 Gene

Drug/compound Annotation
azathioprine CA
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:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for AOX1

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for AOX1

Flow Cytometry Products

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 (15.0) and Adrenal Gland (8.1).

Integrated Proteomics: protein expression 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 expressions with AOX1: view

In Situ Assay Products

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 35
  • 84.2 (n)
  • 83.45 (a)
Aox1 16
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 CG18516 36
  • 29 (a)
ManyToMany
CG18519 36
  • 28 (a)
ManyToMany
CG18522 36
  • 29 (a)
ManyToMany
CG6045 36
  • 29 (a)
ManyToMany
CG6045 37
  • 28 (a)
CG18519 37
  • 31 (a)
ry 37
  • 44 (a)
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

Selected 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 MAF
rs868810 -- 200,651,216(-) TGTGC(A/G)TTTGG intron-variant
rs1050880 -- 200,670,816(+) TTTCT(A/C)TGGAG utr-variant-3-prime
rs1050883 -- 200,670,979(+) ACTTG(C/G)ATGTG utr-variant-3-prime
rs1050884 -- 200,671,058(+) TTCAT(G/T)ACTAA utr-variant-3-prime
rs1050887 -- 200,671,207(+) CAAAA(A/G)CTTTA utr-variant-3-prime

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

(10) Novoseek inferred disease relationships for AOX1 Gene

Disease -log(P) Hits PubMed IDs
molybdenum cofactor deficiency 90.6 7
xanthinuria, type ii 90.1 3
xanthinuria, type i 88.7 1
xanthinuria 87.7 2
tumors 2.72 3

Relevant External Links for AOX1

Genetic Association Database (GAD)
AOX1
Human Genome Epidemiology (HuGE) Navigator
AOX1
genes like me logo Genes that share disorders with AOX1: view

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

Publications for AOX1 Gene

  1. Mutation of human molybdenum cofactor sulfurase gene is responsible to classical xanthinuria type II. (PMID: 11302742) Ichida K. … Nishino T. (Biochem. Biophys. Res. Commun. 2001) 3 4 23
  2. 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
  3. Novel pharmacogenetic markers for treatment outcome in azathioprine-treated inflammatory bowel disease. (PMID: 19500084) Smith M.A. … Sanderson J.D. (Aliment. Pharmacol. Ther. 2009) 3 23 48
  4. In vitro oxidation of famciclovir and 6-deoxypenciclovir by aldehyde oxidase from human, guinea pig, rabbit, and rat liver. (PMID: 9224775) Rashidi M.R. … Beedham C. (Drug Metab. Dispos. 1997) 4 23 25
  5. cDNA cloning, characterization, and tissue-specific expression of human xanthine dehydrogenase/xanthine oxidase. (PMID: 8248161) Wright R.M. … Repine J.E. (Proc. Natl. Acad. Sci. U.S.A. 1993) 3 4

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