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AOX1 aldehyde oxidase 1 [ Homo sapiens (human) ]

Gene ID: 316, updated on 12-Aug-2018

Summary

Official Symbol
AOX1provided by HGNC
Official Full Name
aldehyde oxidase 1provided by HGNC
Primary source
HGNC:HGNC:553
See related
Ensembl:ENSG00000138356 MIM:602841; Vega:OTTHUMG00000154536
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

Genomic context

See AOX1 in Genome Data Viewer
Location:
2q33.1
Exon count:
36
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 2 NC_000002.12 (200585952..200677064)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (201450731..201536218)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene potassium channel tetramerization domain containing 18 Neighboring gene shugoshin 2 Neighboring gene AOX3P-AOX2P readthrough, transcribed pseudogene 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

Expression

  • Project title: 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
2 iron, 2 sulfur cluster binding IDA
Inferred from Direct Assay
more info
PubMed 
FAD binding IEA
Inferred from Electronic Annotation
more info
 
NAD binding IEA
Inferred from Electronic Annotation
more info
 
aldehyde oxidase activity IDA
Inferred from Direct Assay
more info
PubMed 
aldehyde oxidase activity TAS
Traceable Author Statement
more info
 
electron transfer activity IEA
Inferred from Electronic Annotation
more info
 
flavin adenine dinucleotide binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
flavin adenine dinucleotide binding IDA
Inferred from Direct Assay
more info
PubMed 
geranial:oxygen oxidoreductase activity IEA
Inferred from Electronic Annotation
more info
 
heptaldehyde:oxygen oxidoreductase activity IEA
Inferred from Electronic Annotation
more info
 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
iron ion binding IDA
Inferred from Direct Assay
more info
PubMed 
molybdopterin cofactor binding IDA
Inferred from Direct Assay
more info
PubMed 
protein homodimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
xanthine dehydrogenase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
drug metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
electron transport chain IEA
Inferred from Electronic Annotation
more info
 
oxidation-reduction process IDA
Inferred from Direct Assay
more info
PubMed 
vitamin B6 metabolic process TAS
Traceable Author Statement
more info
 
xanthine catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

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_001159.3NP_001150.3  aldehyde oxidase

    See identical proteins and their annotated locations for NP_001150.3

    Status: REVIEWED

    Source sequence(s)
    AB046692, AL079797, BM681054, CB153864
    Consensus CDS
    CCDS33360.1
    UniProtKB/Swiss-Prot
    Q06278
    Related
    ENSP00000363832.2, OTTHUMP00000205961, ENST00000374700.6, OTTHUMT00000335844
    Conserved Domains (6) summary
    TIGR02969
    Location:51338
    mam_aldehyde_ox; aldehyde oxidase
    smart01008
    Location:594701
    Ald_Xan_dh_C; Aldehyde oxidase and xanthine dehydrogenase, a/b hammerhead domain
    pfam00941
    Location:239419
    FAD_binding_5; FAD binding domain in molybdopterin dehydrogenase
    pfam01799
    Location:88161
    Fer2_2; [2Fe-2S] binding domain
    pfam02738
    Location:7201245
    Ald_Xan_dh_C2; Molybdopterin-binding domain of aldehyde dehydrogenase
    pfam03450
    Location:426530
    CO_deh_flav_C; CO dehydrogenase flavoprotein C-terminal domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p12 Primary Assembly

    Range
    200585952..200677064
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    Conserved Domains (6) summary
    TIGR02969
    Location:51328
    mam_aldehyde_ox; aldehyde oxidase
    smart01008
    Location:594701
    Ald_Xan_dh_C; Aldehyde oxidase and xanthine dehydrogenase, a/b hammerhead domain
    pfam00941
    Location:239419
    FAD_binding_5; FAD binding domain in molybdopterin dehydrogenase
    pfam01799
    Location:88161
    Fer2_2; [2Fe-2S] binding domain
    pfam02738
    Location:7201245
    Ald_Xan_dh_C2; Molybdopterin-binding domain of aldehyde dehydrogenase
    pfam03450
    Location:426530
    CO_deh_flav_C; CO dehydrogenase flavoprotein C-terminal domain
  2. XM_017003946.1XP_016859435.1  aldehyde oxidase isoform X2

  3. XM_017003947.2XP_016859436.1  aldehyde oxidase isoform X3

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