Human Gene AOX1 (ENST00000374700.7) from GENCODE V44
  Description: Homo sapiens aldehyde oxidase 1 (AOX1), mRNA. (from RefSeq NM_001159)
RefSeq Summary (NM_001159): 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].
Gencode Transcript: ENST00000374700.7
Gencode Gene: ENSG00000138356.14
Transcript (Including UTRs)
   Position: hg38 chr2:200,586,014-200,671,495 Size: 85,482 Total Exon Count: 35 Strand: +
Coding Region
   Position: hg38 chr2:200,586,109-200,670,679 Size: 84,571 Coding Exon Count: 35 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr2:200,586,014-200,671,495)mRNA (may differ from genome)Protein (1338 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
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HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: ADO_HUMAN
DESCRIPTION: RecName: Full=Aldehyde oxidase; EC=1.2.3.1;
CATALYTIC ACTIVITY: An aldehyde + H(2)O + O(2) = a carboxylate + H(2)O(2).
COFACTOR: Binds 2 2Fe-2S clusters.
COFACTOR: FAD.
COFACTOR: Molybdopterin.
SUBUNIT: Homodimer.
SUBCELLULAR LOCATION: Cytoplasm.
TISSUE SPECIFICITY: Abundant in liver, lower levels in lung, skeletal muscle, pancreas. Undetected in heart, brain and kidney.
SIMILARITY: Belongs to the xanthine dehydrogenase family.
SIMILARITY: Contains 1 2Fe-2S ferredoxin-type domain.
SIMILARITY: Contains 1 FAD-binding PCMH-type domain.
CAUTION: Was originally (PubMed:8248161) thought to be a xanthine dehydrogenase.
SEQUENCE CAUTION: Sequence=AAA96650.1; Type=Frameshift; Positions=284, 286, 294, 302; Sequence=AAB83966.1; Type=Frameshift; Positions=284, 286, 294, 302;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: AOX1
Diseases sorted by gene-association score: xanthinuria (21), xanthinuria, type ii (21), xanthinuria, type i (15), molybdenum cofactor deficiency (14), hereditary xanthinuria (9), purine-pyrimidine metabolic disorder (6)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 234.68 RPKM in Adrenal Gland
Total median expression: 1009.13 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -35.6095-0.375 Picture PostScript Text
3' UTR -167.70816-0.206 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR002888 - 2Fe-2S-bd
IPR001041 - 2Fe-2S_ferredoxin-type
IPR006058 - 2Fe2S_fd_BS
IPR000674 - Ald_Oxase/Xan_DH_a/b
IPR016208 - Ald_Oxase/xanthine_DH
IPR014313 - Aldehyde_oxidase
IPR008274 - AldOxase/xan_DH_Mopterin-bd
IPR012675 - Beta-grasp_dom
IPR005107 - CO_DH_flav_C
IPR016169 - CO_DH_flavot_FAD-bd_sub2
IPR016166 - FAD-bd_2
IPR016167 - FAD-bd_2_sub1
IPR002346 - Mopterin_DH_FAD-bd
IPR022407 - OxRdtase_Mopterin_BS

Pfam Domains:
PF01315 - Aldehyde oxidase and xanthine dehydrogenase, a/b hammerhead domain
PF02738 - Molybdopterin-binding domain of aldehyde dehydrogenase
PF03450 - CO dehydrogenase flavoprotein C-terminal domain
PF00941 - FAD binding domain in molybdopterin dehydrogenase
PF00111 - 2Fe-2S iron-sulfur cluster binding domain
PF01799 - [2Fe-2S] binding domain

ModBase Predicted Comparative 3D Structure on Q06278
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsembl   
Protein SequenceProtein SequenceProtein Sequence   
AlignmentAlignmentAlignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004031 aldehyde oxidase activity
GO:0005506 iron ion binding
GO:0009055 electron carrier activity
GO:0016491 oxidoreductase activity
GO:0016614 oxidoreductase activity, acting on CH-OH group of donors
GO:0016903 oxidoreductase activity, acting on the aldehyde or oxo group of donors
GO:0042802 identical protein binding
GO:0042803 protein homodimerization activity
GO:0043546 molybdopterin cofactor binding
GO:0046872 metal ion binding
GO:0050660 flavin adenine dinucleotide binding
GO:0051287 NAD binding
GO:0051536 iron-sulfur cluster binding
GO:0051537 2 iron, 2 sulfur cluster binding

Biological Process:
GO:0009115 xanthine catabolic process
GO:0017144 drug metabolic process
GO:0022900 electron transport chain
GO:0042816 vitamin B6 metabolic process
GO:0055114 oxidation-reduction process

Cellular Component:
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  L11005 - Human aldehyde oxidase (hAOX) mRNA, complete cds.
AK301052 - Homo sapiens cDNA FLJ51111 partial cds, highly similar to Aldehyde oxidase (EC 1.2.3.1).
AB046692 - Homo sapiens hAO mRNA for aldeyde oxidase, complete cds.
BC117179 - Homo sapiens aldehyde oxidase 1, mRNA (cDNA clone MGC:150788 IMAGE:40125730), complete cds.
BC117181 - Homo sapiens aldehyde oxidase 1, mRNA (cDNA clone MGC:150790 IMAGE:40125732), complete cds.
JD097025 - Sequence 78049 from Patent EP1572962.
MF667933 - Homo sapiens AOX1 (AOX1) mRNA, complete cds.
AK297930 - Homo sapiens cDNA FLJ51005 complete cds, highly similar to Aldehyde oxidase (EC 1.2.3.1).
AK307738 - Homo sapiens cDNA, FLJ97686.
JD024368 - Sequence 5392 from Patent EP1572962.
JD030674 - Sequence 11698 from Patent EP1572962.
JD161360 - Sequence 142384 from Patent EP1572962.
JD115182 - Sequence 96206 from Patent EP1572962.
JD235603 - Sequence 216627 from Patent EP1572962.
JD201056 - Sequence 182080 from Patent EP1572962.
JD433261 - Sequence 414285 from Patent EP1572962.
JD300344 - Sequence 281368 from Patent EP1572962.
JD254488 - Sequence 235512 from Patent EP1572962.
JD316665 - Sequence 297689 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00280 - Valine, leucine and isoleucine degradation
hsa00350 - Tyrosine metabolism
hsa00380 - Tryptophan metabolism
hsa00750 - Vitamin B6 metabolism
hsa00760 - Nicotinate and nicotinamide metabolism
hsa00982 - Drug metabolism - cytochrome P450
hsa01100 - Metabolic pathways

BioCyc Knowledge Library
PWY66-201 - nicotine degradation IV
PWY66-221 - nicotine degradation V

Reactome (by CSHL, EBI, and GO)

Protein Q06278 (Reactome details) participates in the following event(s):

R-HSA-3204311 AOX1 oxidises PXL to PDXate
R-HSA-964975 Vitamins B6 activation to pyridoxal phosphate
R-HSA-196849 Metabolism of water-soluble vitamins and cofactors
R-HSA-196854 Metabolism of vitamins and cofactors
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: ADO_HUMAN, AO, ENST00000374700.1, ENST00000374700.2, ENST00000374700.3, ENST00000374700.4, ENST00000374700.5, ENST00000374700.6, NM_001159, O14765, Q06278, Q53RR8, Q53TV3, Q9BYF0, Q9UPG6, uc002uvx.1, uc002uvx.2, uc002uvx.3, uc002uvx.4, uc002uvx.5
UCSC ID: ENST00000374700.7
RefSeq Accession: NM_001159
Protein: Q06278 (aka ADO_HUMAN)
CCDS: CCDS33360.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.