• Gene id: 316

Gene Summary

• Gene Symbol: AOX1   Gene   UCSC   Ensembl
• Aliases: AO, AOH1
• Gene name: aldehyde oxidase 1
• Alternate names: aldehyde oxidase, azaheterocycle hydroxylase,
• Gene location: 2q33.1 (200585951: 200677063)     Exons: 36     NC_000002.12
• Gene summary(Entrez): 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]
• OMIM: 178635

Protein Summary

• Protein general information: Q06278  
  • Name: Aldehyde oxidase (EC 1.2.3.1) (Aldehyde oxidase 1) (Azaheterocycle hydroxylase) (EC 1.17.3. )
  • Length: 1338  
  • Mass: 147918
  • Tissue specificity: Abundant in liver, expressed in adipose tissue and at lower levels in lung, skeletal muscle, pancreas. In contrast to mice, no significant gender difference in AOX1 expression level (at protein level). {ECO
• Sequence:

  MDRASELLFYVNGRKVIEKNVDPETMLLPYLRKKLRLTGTKYGCGGGGCGACTVMISRYNPITKRIRHHPANACL
  IPICSLYGAAVTTVEGIGSTHTRIHPVQERIAKCHGTQCGFCTPGMVMSIYTLLRNHPEPTLDQLTDALGGNLCR
  CTGYRPIIDACKTFCKTSGCCQSKENGVCCLDQGINGLPEFEEGSKTSPKLFAEEEFLPLDPTQELIFPPELMIM
  AEKQSQRTRVFGSERMMWFSPVTLKELLEFKFKYPQAPVIMGNTSVGPEVKFKGVFHPVIISPDRIEELSVVNHA
  YNGLTLGAGLSLAQVKDILADVVQKLPEEKTQMYHALLKHLGTLAGSQIRNMASLGGHIISRHPDSDLNPILAVG
  NCTLNLLSKEGKRQIPLNEQFLSKCPNADLKPQEILVSVNIPYSRKWEFVSAFRQAQRQENALAIVNSGMRVFFG
  EGDGIIRELCISYGGVGPATICAKNSCQKLIGRHWNEQMLDIACRLILNEVSLLGSAPGGKVEFKRTLIISFLFK
  FYLEVSQILKKMDPVHYPSLADKYESALEDLHSKHHCSTLKYQNIGPKQHPEDPIGHPIMHLSGVKHATGEAIYC
  DDMPLVDQELFLTFVTSSRAHAKIVSIDLSEALSMPGVVDIMTAEHLSDVNSFCFFTEAEKFLATDKVFCVGQLV
  CAVLADSEVQAKRAAKRVKIVYQDLEPLILTIEESIQHNSSFKPERKLEYGNVDEAFKVVDQILEGEIHMGGQEH
  FYMETQSMLVVPKGEDQEMDVYVSTQFPKYIQDIVASTLKLPANKVMCHVRRVGGAFGGKVLKTGIIAAVTAFAA
  NKHGRAVRCVLERGEDMLITGGRHPYLGKYKAGFMNDGRILALDMEHYSNAGASLDESLFVIEMGLLKMDNAYKF
  PNLRCRGWACRTNLPSNTAFRGFGFPQAALITESCITEVAAKCGLSPEKVRIINMYKEIDQTPYKQEINAKNLIQ
  CWRECMAMSSYSLRKVAVEKFNAENYWKKKGLAMVPLKFPVGLGSRAAGQAAALVHIYLDGSVLVTHGGIEMGQG
  VHTKMIQVVSRELRMPMSNVHLRGTSTETVPNANISGGSVVADLNGLAVKDACQTLLKRLEPIISKNPKGTWKDW
  AQTAFDESINLSAVGYFRGYESDMNWEKGEGQPFEYFVYGAACSEVEIDCLTGDHKNIRTDIVMDVGCSINPAID
  IGQIEGAFIQGMGLYTIEELNYSPQGILHTRGPDQYKIPAICDMPTELHIALLPPSQNSNTLYSSKGLGESGVFL
  GCSVFFAIHDAVSAARQERGLHGPLTLNSPLTPEKIRMACEDKFTKMIPRDEPGSYVPWNVPI

• Structural information:
  • Protein Domains: (5..9-)
    (/note="2Fe-2S-ferredoxin-type)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00465-)
    (236..42-)
    (/note="FAD-binding-PCMH-type)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00718"-)
  • Interpro: IPR002888  IPR036884  IPR036010  IPR001041  IPR006058   IPR000674  IPR036856  IPR016208  IPR014313  IPR008274  IPR037165  IPR005107  IPR036683  IPR016166  IPR036318  IPR002346  IPR022407  
  • Prosite: PS00197 PS51085 PS51387 PS00559
  • PDB: 4UHW 4UHX 5EPG 6Q6Q
  • PDBsum: 4UHW 4UHX 5EPG 6Q6Q
  • DIP: 61698
  • STRING: ENSP00000363832
• Other Databases: GeneCards:  AOX1  Malacards:  AOX1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0050660	flavin adenine dinucleotide binding	IBA	molecular function
GO:0005829	cytosol	IBA	cellular component
GO:0009115	xanthine catabolic process	IBA	biological process
GO:0004854	xanthine dehydrogenase activity	IBA	molecular function
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0017144	drug metabolic process	IDA	biological process
GO:0017144	drug metabolic process	IDA	biological process
GO:0017144	drug metabolic process	IDA	biological process
GO:0017144	drug metabolic process	IDA	biological process
GO:0050660	flavin adenine dinucleotide binding	IDA	molecular function
GO:0050660	flavin adenine dinucleotide binding	IDA	molecular function
GO:0043546	molybdopterin cofactor binding	IDA	molecular function
GO:0043546	molybdopterin cofactor binding	IDA	molecular function
GO:0005506	iron ion binding	IDA	molecular function
GO:0005506	iron ion binding	IDA	molecular function
GO:0055114	oxidation-reduction process	IDA	biological process
GO:0055114	oxidation-reduction process	IDA	biological process
GO:0005829	cytosol	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0004031	aldehyde oxidase activity	IDA	molecular function
GO:0004031	aldehyde oxidase activity	IDA	molecular function
GO:0051537	2 iron, 2 sulfur cluster binding	IDA	molecular function
GO:0051537	2 iron, 2 sulfur cluster binding	IDA	molecular function
GO:0005506	iron ion binding	IEA	molecular function
GO:0043546	molybdopterin cofactor binding	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0050660	flavin adenine dinucleotide binding	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0071949	FAD binding	IEA	molecular function
GO:0009055	electron transfer activity	IEA	molecular function
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0051287	NAD binding	IEA	molecular function
GO:0051536	iron-sulfur cluster binding	IEA	molecular function
GO:0051537	2 iron, 2 sulfur cluster binding	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0051537	2 iron, 2 sulfur cluster binding	IEA	molecular function
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0051536	iron-sulfur cluster binding	IEA	molecular function
GO:0004031	aldehyde oxidase activity	IEA	molecular function
GO:0102797	geranial:oxygen oxidoreductase activity	IEA	molecular function
GO:0102798	heptaldehyde:oxygen oxidoreductase activity	IEA	molecular function
GO:0042816	vitamin B6 metabolic process	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0042802	identical protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0022900	electron transport chain	IEA	biological process
GO:0070062	extracellular exosome	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa04630	JAK-STAT signaling pathway
hsa00982	Drug metabolism - cytochrome P450
hsa00830	Retinol metabolism
hsa00280	Valine, leucine and isoleucine degradation
hsa00760	Nicotinate and nicotinamide metabolism
hsa00350	Tyrosine metabolism
hsa00380	Tryptophan metabolism
hsa00750	Vitamin B6 metabolism

Diseases

Associated diseases	References
Amyotrophic lateral sclerosis	PMID:7570184
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Hypospermatogenesis	MIK: 28361989

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray