AOX1 (aldehyde oxidase 1)

2013-11-01  

Identity

HGNC
LOCATION
2q33.1
LOCUSID
ALIAS
AO,AOH1
FUSION GENES

Other Information

Locus ID:

NCBI: 316
MIM: 602841
HGNC: 553
Ensembl: ENSG00000138356

Variants:

dbSNP: 316
ClinVar: 316
TCGA: ENSG00000138356
COSMIC: AOX1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000138356ENST00000260930H7BXF7
ENSG00000138356ENST00000374700Q06278
ENSG00000138356ENST00000439380H7C3Q1
ENSG00000138356ENST00000454629C9J244

Expression (GTEx)

0
50
100
150
200
250
300
350
400
450

Pathways

PathwaySourceExternal ID
Valine, leucine and isoleucine degradationKEGGko00280
Tyrosine metabolismKEGGko00350
Tryptophan metabolismKEGGko00380
Vitamin B6 metabolismKEGGko00750
Nicotinate and nicotinamide metabolismKEGGko00760
Retinol metabolismKEGGko00830
Drug metabolism - cytochrome P450KEGGko00982
Jak-STAT signaling pathwayKEGGko04630
Valine, leucine and isoleucine degradationKEGGhsa00280
Tyrosine metabolismKEGGhsa00350
Tryptophan metabolismKEGGhsa00380
Vitamin B6 metabolismKEGGhsa00750
Nicotinate and nicotinamide metabolismKEGGhsa00760
Retinol metabolismKEGGhsa00830
Drug metabolism - cytochrome P450KEGGhsa00982
Jak-STAT signaling pathwayKEGGhsa04630
Metabolic pathwaysKEGGhsa01100
MetabolismREACTOMER-HSA-1430728
Metabolism of vitamins and cofactorsREACTOMER-HSA-196854
Metabolism of water-soluble vitamins and cofactorsREACTOMER-HSA-196849
Vitamins B6 activation to pyridoxal phosphateREACTOMER-HSA-964975

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA165958521febuxostatChemicalClinicalAnnotationassociatedPD27798726
PA166114484XK469ChemicalClinicalAnnotationassociatedPK
PA444318GoutDiseaseClinicalAnnotationassociatedPD27798726
PA446116Inflammatory Bowel DiseasesDiseaseClinicalAnnotationassociatedPD19500084
PA448320allopurinolChemicalClinicalAnnotationassociatedPD27798726
PA448515azathioprineChemicalClinicalAnnotationassociatedPD19500084

References

Pubmed IDYearTitleCitations
198984822009Genetic variants in TPMT and COMT are associated with hearing loss in children receiving cisplatin chemotherapy.84
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
239189432013DNA methylation signatures for prediction of biochemical recurrence after radical prostatectomy of clinically localized prostate cancer.58
222790512012The impact of single nucleotide polymorphisms on human aldehyde oxidase.22
197410352009Purification and mechanism of human aldehyde oxidase expressed in Escherichia coli.15
255371832015Nitrite reductase activity of rat and human xanthine oxidase, xanthine dehydrogenase, and aldehyde oxidase: evaluation of their contribution to NO formation in vivo.13
208006032010Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.12
220316252012Characterization of aldehyde oxidase enzyme activity in cryopreserved human hepatocytes.12
195000842009Novel pharmacogenetic markers for treatment outcome in azathioprine-treated inflammatory bowel disease.11
225227482012Hydralazine as a selective probe inactivator of aldehyde oxidase in human hepatocytes: estimation of the contribution of aldehyde oxidase to metabolic clearance.9

Citation

Dessen P

AOX1 (aldehyde oxidase 1)

Atlas Genet Cytogenet Oncol Haematol. 2013-11-01

Online version: http://atlasgeneticsoncology.org/gene/53623/aox1-(aldehyde-oxidase-1)