AOX1 (aldehyde oxidase 1)

Gene

• Entrez ID: 316
• Gene name: Aldehyde oxidase 1
• Gene symbol: AOX1
• Synonyms (NCBI Gene): AO, AOH1
• Chromosome: 2
• Chromosome location: 2q33.1
• 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]

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT029520	hsa-miR-26b-5p	Microarray	19088304
MIRT786745	hsa-miR-3126-3p	CLIP-seq
MIRT786746	hsa-miR-409-5p	CLIP-seq
MIRT786747	hsa-miR-526b	CLIP-seq
MIRT786748	hsa-miR-578	CLIP-seq
MIRT2475430	hsa-miR-1279	CLIP-seq
MIRT2475431	hsa-miR-128	CLIP-seq
MIRT2475432	hsa-miR-27a	CLIP-seq
MIRT2475433	hsa-miR-27b	CLIP-seq
MIRT2475434	hsa-miR-3125	CLIP-seq
MIRT2475435	hsa-miR-3646	CLIP-seq
MIRT2475436	hsa-miR-3662	CLIP-seq
MIRT2475437	hsa-miR-3916	CLIP-seq
MIRT2475438	hsa-miR-4476	CLIP-seq
MIRT2475439	hsa-miR-513a-5p	CLIP-seq
MIRT2475440	hsa-miR-549	CLIP-seq
MIRT2475430	hsa-miR-1279	CLIP-seq
MIRT2475431	hsa-miR-128	CLIP-seq
MIRT2475432	hsa-miR-27a	CLIP-seq
MIRT2475433	hsa-miR-27b	CLIP-seq
MIRT2475434	hsa-miR-3125	CLIP-seq
MIRT2475435	hsa-miR-3646	CLIP-seq
MIRT2475436	hsa-miR-3662	CLIP-seq
MIRT2475437	hsa-miR-3916	CLIP-seq
MIRT2475438	hsa-miR-4476	CLIP-seq
MIRT2475439	hsa-miR-513a-5p	CLIP-seq
MIRT2475440	hsa-miR-549	CLIP-seq
MIRT2675086	hsa-miR-944	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004031	Function	Aldehyde oxidase activity	IBA
GO:0004031	Function	Aldehyde oxidase activity	IDA	22279051, 26842593
GO:0004031	Function	Aldehyde oxidase activity	IEA
GO:0005506	Function	Iron ion binding	IDA	26322824, 26842593
GO:0005506	Function	Iron ion binding	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA	20444863, 23857892
GO:0005829	Component	Cytosol	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006805	Process	Xenobiotic metabolic process	IDA	20444863, 22031625, 22522748, 23857892
GO:0015630	Component	Microtubule cytoskeleton	IDA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016604	Component	Nuclear body	IDA
GO:0042802	Function	Identical protein binding	IPI	26322824
GO:0042803	Function	Protein homodimerization activity	IDA	26322824, 26842593
GO:0043546	Function	Molybdopterin cofactor binding	IDA	26322824, 26842593
GO:0043546	Function	Molybdopterin cofactor binding	IEA
GO:0045171	Component	Intercellular bridge	IDA
GO:0046872	Function	Metal ion binding	IEA
GO:0050660	Function	Flavin adenine dinucleotide binding	IDA	26322824, 26842593
GO:0050660	Function	Flavin adenine dinucleotide binding	IEA
GO:0051287	Function	NAD binding	IEA
GO:0051536	Function	Iron-sulfur cluster binding	IEA
GO:0051537	Function	2 iron, 2 sulfur cluster binding	IDA	26322824, 26842593
GO:0051537	Function	2 iron, 2 sulfur cluster binding	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0071949	Function	FAD binding	IEA

Other IDs

• MIM: 602841
• HGNC: 553
• e!Ensembl: ENSG00000138356

Protein

• UniProt ID: Q06278
• Protein name: Aldehyde oxidase (EC 1.2.3.1) (Aldehyde oxidase 1) (Azaheterocycle hydroxylase) (EC 1.17.3.-)
• Protein function: Oxidase with broad substrate specificity, oxidizing aromatic azaheterocycles, such as N1-methylnicotinamide, N-methylphthalazinium and phthalazine, as well as aldehydes, such as benzaldehyde, retinal, pyridoxal, and vanillin. Plays a key role in
• PDB: 4UHW, 4UHX, 5EPG, 6Q6Q, 7OPN, 7ORC, 8EMT
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00111	Fer2	9 → 79	2Fe-2S iron-sulfur cluster binding domain	Domain
  PF01799	Fer2_2	88 → 162	[2Fe-2S] binding domain	Domain
  PF00941	FAD_binding_5	236 → 419	FAD binding domain in molybdopterin dehydrogenase	Family
  PF03450	CO_deh_flav_C	426 → 530	CO dehydrogenase flavoprotein C-terminal domain	Domain
  PF01315	Ald_Xan_dh_C	594 → 701	Aldehyde oxidase and xanthine dehydrogenase, a/b hammerhead domain	Domain
  PF02738	Ald_Xan_dh_C2	707 → 1245	Molybdopterin-binding domain of aldehyde dehydrogenase	Family

• Tissue specificity: 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:0000269|PubMed:18066686, ECO
• Sequence:

  MDRASELLFYVNGRKVIEKNVDPETMLLPYLRKKLRLTGTKYGCGGGGCGACTVMISRYN
  PITKRIRHHPANACLIPICSLYGAAVTTVEGIGSTHTRIHPVQERIAKCHGTQCGFCTPG
  MVMSIYTLLRNHPEPTLDQLTDALGGNLCRCTGYRPIIDACKTFCKTSGCCQSKENGVCC
  LDQGINGLPEFEEGSKTSPKLFAEEEFLPLDPTQELIFPPELMIMAEKQSQRTRVFGSER
  MMWFSPVTLKELLEFKFKYPQAPVIMGNTSVGPEVKFKGVFHPVIISPDRIEELSVVNHA
  YNGLTLGAGLSLAQVKDILADVVQKLPEEKTQMYHALLKHLGTLAGSQIRNMASLGGHII
  SRHPDSDLNPILAVGNCTLNLLSKEGKRQIPLNEQFLSKCPNADLKPQEILVSVNIPYSR
  KWEFVSAFRQAQRQENALAIVNSGMRVFFGEGDGIIRELCISYGGVGPATICAKNSCQKL
  IGRHWNEQMLDIACRLILNEVSLLGSAPGGKVEFKRTLIISFLFKFYLEVSQILKKMDPV
  HYPSLADKYESALEDLHSKHHCSTLKYQNIGPKQHPEDPIGHPIMHLSGVKHATGEAIYC
  DDMPLVDQELFLTFVTSSRAHAKIVSIDLSEALSMPGVVDIMTAEHLSDVNSFCFFTEAE
  KFLATDKVFCVGQLVCAVLADSEVQAKRAAKRVKIVYQDLEPLILTIEESIQHNSSFKPE
  RKLEYGNVDEAFKVVDQILEGEIHMGGQEHFYMETQSMLVVPKGEDQEMDVYVSTQFPKY
  IQDIVASTLKLPANKVMCHVRRVGGAFGGKVLKTGIIAAVTAFAANKHGRAVRCVLERGE
  DMLITGGRHPYLGKYKAGFMNDGRILALDMEHYSNAGASLDESLFVIEMGLLKMDNAYKF
  PNLRCRGWACRTNLPSNTAFRGFGFPQAALITESCITEVAAKCGLSPEKVRIINMYKEID
  QTPYKQEINAKNLIQCWRECMAMSSYSLRKVAVEKFNAENYWKKKGLAMVPLKFPVGLGS
  RAAGQAAALVHIYLDGSVLVTHGGIEMGQGVHTKMIQVVSRELRMPMSNVHLRGTSTETV
  PNANISGGSVVADLNGLAVKDACQTLLKRLEPIISKNPKGTWKDWAQTAFDESINLSAVG
  YFRGYESDMNWEKGEGQPFEYFVYGAACSEVEIDCLTGDHKNIRTDIVMDVGCSINPAID
  IGQIEGAFIQGMGLYTIEELNYSPQGILHTRGPDQYKIPAICDMPTELHIALLPPSQNSN
  TLYSSKGLGESGVFLGCSVFFAIHDAVSAARQERGLHGPLTLNSPLTPEKIRMACEDKFT
  KMIPRDEPGSYVPWNVPI

• Sequence length: 1338

Pathways

KEGG:

Valine, leucine and isoleucine degradation
Tyrosine metabolism
Tryptophan metabolism
Vitamin B6 metabolism
Nicotinate and nicotinamide metabolism
Retinol metabolism
Drug metabolism - cytochrome P450
Metabolic pathways
JAK-STAT signaling pathway

Reactome:

Vitamins B6 activation to pyridoxal phosphate

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AMYOTROPHIC LATERAL SCLEROSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LATE-ONSET ALZHEIMER'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Amyotrophic lateral sclerosis 1	Amyotrophic lateral sclerosis	Pubtator	9601067	Associate	★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	26580399		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	26580399	Associate	★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	31383940		★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	31383940		★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	35180880	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	37395022	Associate	★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	17992631		★☆☆☆☆ Found in Text Mining only
Combined molybdoflavoprotein enzyme deficiency	Combined molybdoflavoprotein enzyme deficiency	BEFREE	19544009		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	31844038		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	34545296	Associate	★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	30446221		★☆☆☆☆ Found in Text Mining only
Gastroschisis	Gastroschisis	Pubtator	31075877	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	24300566		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	17992631		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis Alcoholic	Liver cirrhosis	Pubtator	29695616	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	37395022	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	19208208		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	23119026, 23621580, 28084441, 30289108		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	31383940		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	26580399		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	17992631, 19885562, 31383940		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	30446221		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	26512784		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	31775891	Associate	★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	23119026, 23621580, 28084441, 30289108		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	19208208		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	23119026, 26383847, 28084441, 30289108	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Steatohepatitis	Fatty Liver	BEFREE	30446221		★☆☆☆☆ Found in Text Mining only
Xanthinuria Type I	Xanthinuria	Pubtator	9510406	Associate	★☆☆☆☆ Found in Text Mining only
Xanthinuria, Type I	Xanthinuria	BEFREE	14551354		★☆☆☆☆ Found in Text Mining only