AOX1 - aldehyde oxidase 1 Gene

Also Known as AO; AOH1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 316

About AOX1

Cytogenetic location: 2q33.1 Genomic coordinates (GRCh38): 2:200,586,014-200,682,241 (from NCBI)

This gene has 8 transcripts (splice variants), 192 orthologues and 1 paralogue. Biased expression in liver (RPKM 241.2), adrenal (RPKM 172.5) and 5 other tissues.

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]

AOX1 Products (2)

mRNA Protein Name
NM_001159.4 NP_001150.3 aldehyde oxidase
NM_001159.4 NP_001150.3 aldehyde oxidase

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Referencias Source
enables 2 iron, 2 sulfur cluster binding IDA
IDA: Inferred from direct assay
26322824 GOA
enables aldehyde oxidase activity IDA
IDA: Inferred from direct assay
22279051 GOA
enables flavin adenine dinucleotide binding IDA
IDA: Inferred from direct assay
26322824 GOA
enables identical protein binding IPI
IPI: Inferred from physical interaction
26322824 GOA
enables iron ion binding IDA
IDA: Inferred from direct assay
26322824 GOA
enables molybdopterin cofactor binding IDA
IDA: Inferred from direct assay
26322824 GOA
enables protein homodimerization activity IDA
IDA: Inferred from direct assay
26322824 GOA
Biological Process GO Annotation Evidence Referencias Source
involved in xenobiotic metabolic process IDA
IDA: Inferred from direct assay
20444863 GOA
Cellular Component GO Annotation Evidence Referencias Source
located in cytosol IDA
IDA: Inferred from direct assay
20444863 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

AOX1 Protein Structure

Fer2

Fer2: 2Fe-2S iron-sulfur cluster binding domain (10 - 78)

Fer2_2

Fer2_2: [2Fe-2S] binding domain (88 - 162)

FAD_binding_5

FAD_binding_5: FAD binding domain in molybdopterin dehydrogenase (240 - 418)

CO_deh_flav_C

CO_deh_flav_C: CO dehydrogenase flavoprotein C-terminal domain (426 - 530)

Ald_Xan_dh_C

Ald_Xan_dh_C: Aldehyde oxidase and xanthine dehydrogenase, a/b hammerhead domain (594 - 700)

Ald_Xan_dh_C2

Ald_Xan_dh_C2: Molybdopterin-binding domain of aldehyde dehydrogenase (712 - 1245)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1338 a.a.
Protein Preferred Names Protein Names

aldehyde oxidase

  • azaheterocycle hydroxylase

AOX1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Referencias
Intra
AOX1 Q06278 AOX1 Homo sapiens Q06278
X-Ray Diffraction
26322824
Intra
AOX1 Q06278 AOX1 Homo sapiens Q06278
GMS
26322824
Intra
AOX1 Q06278 CRKL Homo sapiens P46109
Y2H
21988832
Cross: Cross-species interaction Intra: Intraspecies interaction

AOX1 Antibodies

Referencia número Nombre del producto Aplicación Reactivity
HY-P86780 Aldehyde Oxidase Antibody (YA6473) WB, IHC-P, FC Human, Mouse, Rat

Related Diseases

Diseases Alias
Xanthinuria

  • Xanthine Dehydrogenase Deficiency

  • Xanthine Oxidase Deficiency

  • Hereditary Xanthinuria

  • Xanthic Urolithiasis

  • Xanthine Stone Disease

  • Xanthinuria, Type I

  • Combined Deficiency Of Xanthine Dehydrogenase And Aldehyde Oxidase

  • Xdh Deficiency

  • Classic Xanthinuria

  • Xanthinuria, Type Ii

  • Classical Xanthinuria

  • Xanthine Calculus
Molybdenum Cofactor Deficiency

  • Combined Molybdoflavoprotein Enzyme Deficiency

  • Mocod

  • Combined Deficiency Of Sulfite Oxidase, Xanthine Dehydrogenase, And Aldehyde Oxidase

  • Combined Deficiency Of Sulfite Oxidase, Xanthine Dehydrogenase And Aldehyde Oxidase

  • Combined Xanthine Oxidase And Sulfite Oxidase And Aldehyde Oxidase Deficiency

  • Deficiency Of Molybdenum Cofactor

  • Deficiency, Molybdenum Cofactor
Xanthinuria, Type Ii

  • Xanthinuria Type Ii

  • XAN2

  • Xdh And Aox Dual Deficiency

  • Xanthine Dehydrogenase And Aldehyde Oxidase, Combined Deficiency Of

  • Xanthinuria Type 2

  • Type 2 Xanthinuria

  • Type Ii Xanthinuria

  • Xanthine Dehydrogenase And Aldehyde Oxidase Combined Deficiency Of

  • Xanthine Dehydrogenase And Xanthine Aldehyde Oxidase Dual Deficiency

  • Xanthinuria 2

  • Combined Deficiency Of Xanthine Dehydrogenase And Aldehyde Oxidase

  • Xanthic Urolithiasis
Xanthinuria, Type I

  • Xanthine Dehydrogenase Deficiency

  • Xdh Deficiency

  • Xanthine Oxidase Deficiency

  • XAN1

  • Xanthinuria Type 1

  • Type 1 Xanthinuria

  • Xanthinuria Type I

  • Xo Deficiency

  • Xor Deficiency

  • Xanthine Oxidoreductase Deficiency

  • Xanthinuria 1

  • Xanthic Urolithiasis

  • Urolithiasis
Molybdenum Cofactor Deficiency, Complementation Group B

  • MOCODB

  • Sulfite Oxidase Deficiency Due To Molybdenum Cofactor Deficiency Type B

  • Molybdenum Cofactor Deficiency B

  • Molybdenum Cofactor Deficiency Type B

  • Combined Deficiency Of Sulfite Oxidase, Xanthine Dehydrogenase And Aldehyde Oxidase Type B

  • Mocod Type B

  • Molybdenum Cofactor Deficiency Complementation Group B

  • Deficiency, Molybdenum Cofactor, Complementation Group B
Sulfite Oxidase Deficiency, Isolated

  • Sulfite Oxidase Deficiency

  • Sulfocysteinuria

  • Isolated Sulfite Oxidase Deficiency

  • ISOD

  • Encephalopathy Due To Sulfite Oxidase Deficiency
Purine-Pyrimidine Metabolic Disorder

  • Inborn Errors Of Purine-Pyrimidine Metabolism

  • Disorder Of Purine Or Pyrimidine Metabolism
Molybdenum Cofactor Deficiency, Complementation Group C

  • MOCODC

  • Sulfite Oxidase Deficiency Due To Molybdenum Cofactor Deficiency Type C

  • Molybdenum Cofactor Deficiency C

  • Molybdenum Cofactor Deficiency Type C

  • Combined Deficiency Of Sulfite Oxidase, Xanthine Dehydrogenase And Aldehyde Oxidase Type C

  • Mocod Type C

  • Molybdenum Cofactor Deficiency Complementation Group C

  • Deficiency, Molybdenum Cofactor, Complementation Group C
Epilepsy, Early-Onset, Vitamin B6-Dependent

  • EPVB6D

  • Early-Onset Vitamin B6-Dependent Epilepsy
Molybdenum Cofactor Deficiency, Complementation Group A

  • MOCODA

  • Sulfite Oxidase Deficiency Due To Molybdenum Cofactor Deficiency Type A

  • Molybdenum Cofactor Deficiency A

  • Molybdenum Cofactor Deficiency Type A

  • Combined Deficiency Of Sulfite Oxidase, Xanthine Dehydrogenase And Aldehyde Oxidase Type A

  • Mocod Type A

  • Combined Deficiency Of Sulfite Oxidase, Xanthine Dehydrogenase, And Aldehyde Oxidase

  • Sulfite Oxidase, Xanthine Dehydrogenase, And Aldehyde Oxidase, Combined Deficiency Of

  • Molybdenum Cofactor Deficiency Complementation Group A

  • Molybdenum Cofactor Deficiency, Type A

  • Deficiency, Molybdenum Cofactor, Complementation Group A
Methylmalonic Aciduria And Homocystinuria, Cbld Type

  • Homocystinuria, Cbld Type, Variant 1

  • Methylmalonic Aciduria And Homocystinuria Type Cbld

  • Vitamin B12-Responsive Methylmalonic Acidemia, Type Cbldv2

  • MAHCD

  • Methylmalonic Acidemia And Homocystinuria, Cbld Type

  • Methylmalonic Aciduria, Cblh Type, Formerly

  • Methylmalonic Acidemia, Cblh Type, Formerly

  • Methylmalonic Aciduria, Cbld Type, Variant 2

  • Cobalamin D Deficiency

  • Methylcobalamin Deficiency Type Cbldv1

  • Functional Methionine Synthase Deficiency Type Cbldv1

  • Vitamin B12-Responsive Methylmalonic Aciduria, Type Cbldv2

  • Methylmalonic Acidemia With Homocystinuria, Type Cbld

  • Cbld Defect

  • Cobalamin D Defect

  • Combined Defect In Adenosylcobalamin And Methylcobalamin Synthesis, Type Cbld

  • Methylmalonic Aciduria With Homocystinuria, Type Cbld

  • Homocystinuria Cbld Variant 1

  • Methylmalonic Acidemia And Homocystinuria Cbld Type

  • Methylmalonic Aciduria And Homocystinuria Cbld-Combined

  • Methylmalonic Aciduria And Homocystinuria Cbld Original

  • Methylmalonic Aciduria Cbld Variant 2

  • Aciduria, Methylmalonic, And Homocystinuria, Cbld Type
Amyotrophic Lateral Sclerosis 1

  • Amyotrophic Lateral Sclerosis

  • ALS

  • Lou Gehrig Disease

  • Amyotrophic Lateral Sclerosis Type 1

  • Charcot Disease

  • ALS1

  • Amyotrophic Lateral Sclerosis, Susceptibility To

  • Fals

  • Lou Gehrig'S Disease

  • Mnd

  • Motor Neuron Disease

  • Familial Amyotrophic Lateral Sclerosis

  • Amyotrophic Lateral Sclerosis 1, Familial

  • Amyotrophic Lateral Sclerosis 1, Autosomal Dominant

  • Motor Neuron Disease, Bulbar

  • Motor Neurone Disease

  • Amyotrophic Lateral Sclerosis With Dementia

  • Dementia With Amyotrophic Lateral Sclerosis

  • Motor Neuron Disease, Amyotrophic Lateral Sclerosis

  • Sclerosis, Lateral, Amyotrophic

  • Sclerosis, Lateral, Amyotrophic, Type 1

  • Amyotrophic Sclerosis

  • Als - [Amyotrophic Lateral Sclerosis]

  • Wasting Palsy

  • Amyotrophic Paralysis

  • Amyotrophy Lateral Sclerosis

  • Wasting Paralysis

  • Spinal Progressive Amyotrophy

  • Progressive Atrophic Paralysis
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (2)
Referencia número Nombre del producto
Efecto
Pureza
Rare Diseases
HY-W142745 Phenanthridine Substrate / Unkown
HY-RS17631 Aox1 Mouse Pre-designed siRNA Set A Inhibitor / Unkown

Orthologs Information

Species Symbol Source ID
Bos taurus AOX1 VGNC VGNC:25974
Rattus norvegicus AOX1 RGD RGD:620528
Macaca mulatta AOX1 VGNC VGNC:69956
Mus musculus AOX1 MGD MGI:88035
Others AOX1 NCBI