Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	316
Gene name Gene Name - the full gene name approved by the HGNC.	Aldehyde oxidase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	AOX1
Synonyms (NCBI Gene) Gene synonyms aliases	AO, AOH1
Chromosome Chromosome number	2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	2q33.1
Summary Summary of gene provided in NCBI Entrez Gene.	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]

Show/Hide all(28)

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

Show/Hide all(20)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004031	Function	Aldehyde oxidase activity	IBA	21873635
GO:0004031	Function	Aldehyde oxidase activity	IDA	22279051, 26842593
GO:0005506	Function	Iron ion binding	IDA	26322824, 26842593
GO:0005829	Component	Cytosol	IDA	20444863, 23857892
GO:0005829	Component	Cytosol	TAS
GO:0009055	Function	Electron transfer activity	IEA
GO:0016491	Function	Oxidoreductase activity	IBA	21873635
GO:0017144	Process	Drug metabolic process	IDA	20444863, 22031625, 22522748, 23857892
GO:0022900	Process	Electron transport chain	IEA
GO:0042802	Function	Identical protein binding	IPI	26322824
GO:0042803	Function	Protein homodimerization activity	IDA	26322824, 26842593
GO:0042816	Process	Vitamin B6 metabolic process	TAS
GO:0043546	Function	Molybdopterin cofactor binding	IDA	26322824, 26842593
GO:0050660	Function	Flavin adenine dinucleotide binding	IDA	26322824, 26842593
GO:0051287	Function	NAD binding	IEA
GO:0051537	Function	2 iron, 2 sulfur cluster binding	IDA	26322824, 26842593
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0071949	Function	FAD binding	IEA
GO:0102797	Function	Geranial:oxygen oxidoreductase activity	IEA
GO:0102798	Function	Heptaldehyde:oxygen oxidoreductase activity	IEA

MIM	HGNC	e!Ensembl
602841	553	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

Interactions

View interactions

	KEGG		Reactome
	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		Vitamins B6 activation to pyridoxal phosphate

Show/Hide Causal Diseases (1)

Disease term	Disease name	dbSNP ID	References
Causal
Prostate cancer	Malignant neoplasm of prostate	rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582	19208208

Show/Hide Text Mining Associations (17)

Disease Name	Relationship Type	References
Associations from Text Mining
Adenocarcinoma of Lung	Associate	37395022
Amyotrophic lateral sclerosis 1	Associate	9601067
Astrocytoma	Associate	26580399
Carcinoma Pancreatic Ductal	Associate	35180880
Carcinoma Squamous Cell	Associate	37395022
Diabetic Nephropathies	Associate	34545296
Gastroschisis	Associate	31075877
Linitis Plastica	Associate	36450891
Liver Cirrhosis Alcoholic	Associate	29695616
Lung Neoplasms	Associate	37395022
Meningeal Neoplasms	Stimulate	26580399
Molybdenum cofactor deficiency	Associate	9634514
Neoplasms	Associate	23119026, 24300566, 26580399, 33450964
Ovarian Neoplasms	Associate	31775891
Precancerous Conditions	Associate	26580399
Prostatic Neoplasms	Associate	23119026, 26383847, 28084441, 30289108
Xanthinuria Type I	Associate	9510406

AOX1 (aldehyde oxidase 1)