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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
    mouse all
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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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    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

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