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AOX1 aldehyde oxidase 1 [ Homo sapiens (human) ]

Gene ID: 316, updated on 2-Nov-2024

Summary

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Official Symbol
AOX1provided by HGNC
Official Full Name
aldehyde oxidase 1provided by HGNC
Primary source
HGNC:HGNC:553
See related
Ensembl:ENSG00000138356 MIM:602841; AllianceGenome:HGNC:553
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
AO; AOH1
Summary
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]
Expression
Biased expression in liver (RPKM 241.2), adrenal (RPKM 172.5) and 5 other tissues See more
Orthologs
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Genomic context

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See AOX1 in Genome Data Viewer
Location:
2q33.1
Exon count:
38
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (200586014..200682241)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (201069494..201165683)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (201450737..201536218)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12225 Neighboring gene potassium channel tetramerization domain containing 18 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12226 Neighboring gene shugoshin 2 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:201473343-201474542 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:201513174-201514373 Neighboring gene AOX3P-AOX2P readthrough, transcribed pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16961 Neighboring gene long intergenic non-protein coding RNA 1792 Neighboring gene aldehyde oxidase 3, pseudogene Neighboring gene aldehyde oxidase 2, pseudogene Neighboring gene RNA, U1 small nuclear 133, pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Human aldehyde oxidase (hAOX1): structure determination of the Moco-free form of the natural variant G1269R and biophysical studies of single nucleotide polymorphisms. Mota C, et al. FEBS Open Bio, 2019 May. PMID 30985987, Free PMC Article
  2. A novel reaction mediated by human aldehyde oxidase: amide hydrolysis of GDC-0834. Sodhi JK, et al. Drug Metab Dispos, 2015 Jun. PMID 25845827, Free PMC Article
  3. A single nucleotide polymorphism causes enhanced radical oxygen species production by human aldehyde oxidase. Foti A, et al. PLoS One, 2017. PMID 28750088, Free PMC Article
  4. Genome-wide Scan Identifies Role for AOX1 in Prostate Cancer Survival. Li W, et al. Eur Urol, 2018 Dec. PMID 30289108, Free PMC Article
  5. Substrate selectivity of human aldehyde oxidase 1 in reduction of nitroaromatic drugs. Ogiso T, et al. Arch Biochem Biophys, 2018 Dec 1. PMID 30367827

See all (52) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Role of AOX1 on RXR signaling regulates osteoblastogenesis in hPDLMSCs.
    Title: Role of AOX1 on RXR signaling regulates osteoblastogenesis in hPDLMSCs.
  2. Aldehyde oxidase 1 promotes gallbladder carcinogenesis through ROS-mediated activation of the Wnt/beta-catenin pathway.
    Title: Aldehyde oxidase 1 promotes gallbladder carcinogenesis through ROS-mediated activation of the Wnt/β-catenin pathway.
  3. Aldehyde oxidase 1 activity and protein expression in human, rabbit, and pig ocular tissues.
    Title: Aldehyde oxidase 1 activity and protein expression in human, rabbit, and pig ocular tissues.
  4. DNA Methylation-Mediated Lowly Expressed AOX1 Promotes Cell Migration and Invasion of Prostate Cancer.
    Title: DNA Methylation-Mediated Lowly Expressed AOX1 Promotes Cell Migration and Invasion of Prostate Cancer.
  5. Aldehyde oxidase 1 promoted the occurrence and development of colorectal cancer by up-regulation of expression of CD133.
    Title: Aldehyde oxidase 1 promoted the occurrence and development of colorectal cancer by up-regulation of expression of CD133.
  6. Epigenetic loss of AOX1 expression via EZH2 leads to metabolic deregulations and promotes bladder cancer progression.
    Title: Epigenetic loss of AOX1 expression via EZH2 leads to metabolic deregulations and promotes bladder cancer progression.
  7. Study utilized a collection of computational tools with concordance analysis approaches to predict putative phenotypic effects and protein stability changes of all validated hAOX1 nonsynonymous single nucleotide polymorphisms (nsSNPs) deposited in the dbSNP. Study constitutes the first extensive analysis for the presence of nsSNPs in hAOX1.
    Title: Systematic exploration of predicted destabilizing nonsynonymous single nucleotide polymorphisms (nsSNPs) of human aldehyde oxidase: A Bio-informatics study.
  8. This prospective study aimed to evaluate the effects of genetic polymorphisms in sulindac-related metabolizing enzyme genes including FMO3 and AOX1 on the population pharmacokinetics of sulindac in 58 pregnant women with preterm labor
    Title: Population Pharmacokinetics of Sulindac and Genetic Polymorphisms of FMO3 and AOX1 in Women with Preterm Labor.
  9. In this study, the authors present the crystal structure of the inactive variant G1269R, revealing the first structure of a molybdenum cofactor (Moco)-free form of hAOX1. These data allowed to model, for the first time, the flexible Gate 1 that controls access to the active site.
    Title: Human aldehyde oxidase (hAOX1): structure determination of the Moco-free form of the natural variant G1269R and biophysical studies of single nucleotide polymorphisms.
  10. substrate selectivity of human AOX1 for the reduction of nitroaromatic drugs
    Title: Substrate selectivity of human aldehyde oxidase 1 in reduction of nitroaromatic drugs.
Submit: New GeneRIF Correction See all GeneRIFs (29)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association study of intelligence: additive effects of novel brain expressed genes.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables 2 iron, 2 sulfur cluster binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables FAD binding IEA
Inferred from Electronic Annotation
more info
  
enables NAD binding IEA
Inferred from Electronic Annotation
more info
  
enables aldehyde oxidase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables aldehyde oxidase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables flavin adenine dinucleotide binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables identical protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables iron ion binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables molybdopterin cofactor binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein homodimerization activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in lipid metabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in xenobiotic metabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in cytosol IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in extracellular exosome HDA PubMed 

General protein information

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Preferred Names
aldehyde oxidase
Names
azaheterocycle hydroxylase
NP_001150.3
XP_011509364.1
XP_016859435.1
XP_016859436.1
XP_054197619.1
XP_054197620.1
XP_054197621.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001159.4 → NP_001150.3  aldehyde oxidase

    See identical proteins and their annotated locations for NP_001150.3

    Status: REVIEWED

    Source sequence(s)
    AC007163, AC080164
    Consensus CDS
    CCDS33360.1
    UniProtKB/Swiss-Prot
    O14765, Q06278, Q53RR8, Q53TV3, Q9BYF0, Q9UPG6
    UniProtKB/TrEMBL
    A0A286LWX1
    Related
    ENSP00000363832.2, ENST00000374700.7
    Conserved Domains (1) summary
    TIGR02969
    Location:5 → 1338
    mam_aldehyde_ox; aldehyde oxidase

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    200586014..200682241
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011511062.2 → XP_011509364.1  aldehyde oxidase isoform X1

    UniProtKB/TrEMBL
    A0A286LWX1
    Conserved Domains (6) summary
    TIGR02969
    Location:5 → 1328
    mam_aldehyde_ox; aldehyde oxidase
    smart01008
    Location:594 → 701
    Ald_Xan_dh_C; Aldehyde oxidase and xanthine dehydrogenase, a/b hammerhead domain
    pfam00941
    Location:239 → 419
    FAD_binding_5; FAD binding domain in molybdopterin dehydrogenase
    pfam01799
    Location:88 → 161
    Fer2_2; [2Fe-2S] binding domain
    pfam02738
    Location:720 → 1245
    Ald_Xan_dh_C2; Molybdopterin-binding domain of aldehyde dehydrogenase
    pfam03450
    Location:426 → 530
    CO_deh_flav_C; CO dehydrogenase flavoprotein C-terminal domain

  2. XM_017003946.2 → XP_016859435.1  aldehyde oxidase isoform X2

    UniProtKB/TrEMBL
    A0A286LWX1

  3. XM_017003947.3 → XP_016859436.1  aldehyde oxidase isoform X3

    UniProtKB/TrEMBL
    A0A286LWX1

RNA

  1. XR_007073113.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    201069494..201165683
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054341644.1 → XP_054197619.1  aldehyde oxidase isoform X1

  2. XM_054341645.1 → XP_054197620.1  aldehyde oxidase isoform X2

  3. XM_054341646.1 → XP_054197621.1  aldehyde oxidase isoform X3

RNA

  1. XR_008486352.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q06278.2 GenPept UniProtKB/Swiss-Prot:Q06278

Gene LinkOut

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