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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

AOX1 Gene

protein-coding GIFtS: 66
GCID: GC02P201450

aldehyde oxidase 1

Explore 29 diseases affiliated with
AOX1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Aldehyde Oxidase 1¹ ²
AO¹ ² ³
AOH1¹ ²
EC 1.2.3.1³ ⁸
Aldehyde Oxidase²

External Ids:	HGNC: 553¹	Entrez Gene: 316²	Ensembl: ENSG00000138356⁷	OMIM: 602841⁵	UniProtKB: Q06278³

Export aliases for AOX1 gene to outside databases

Previous GC identifers: GC02P199667 GC02P200175 GC02P201414 GC02P201653 GC02P201276 GC02P201158 GC02P193302

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for AOX1:

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)

Gene Wiki entry for AOX1 (Aldehyde oxidase 1)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000002.11 NC_018913.1 NT_005403.17

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the AOX1 gene promoter:
Nkx3-1 GR Nkx3-1 v4 NRSF form 1 Nkx3-1 v1 Nkx2-5 NRSF form 2 Nkx3-1 v2 Nkx3-1 v3 GR-alpha
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: AOX1 promoter sequence

Search SABiosciences Chromatin IP Primers for AOX1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat AOX1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2q33 Ensembl cytogenetic band: 2q33.1 HGNC cytogenetic band: 2q33

AOX1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AOX1 gene location

GeneLoc information about chromosome 2 GeneLoc Exon Structure

GeneLoc location for GC02P201450: view genomic region (about GC identifiers)

Start:	201,450,591 bp from pter	End:	201,541,787 bp from pter
Size:	91,197 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: ADO_HUMAN, Q06278 (See protein sequence)

Recommended Name: Aldehyde oxidase

Size: 1338 amino acids; 147918 Da

Cofactor: Binds 2 2Fe-2S clusters

Cofactor: FAD

Cofactor: Molybdopterin

Subunit: Homodimer

Subcellular location: Cytoplasm

Caution: Was originally (PubMed:8248161) thought to be a xanthine dehydrogenase

Sequence caution: Sequence=AAA96650.1; Type=Frameshift; Positions=284, 286, 294, 302; Sequence=AAB83966.1;

Type=Frameshift; Positions=284, 286, 294, 302;

Secondary accessions: O14765 Q53RR8 Q53TV3 Q9BYF0 Q9UPG6

Explore the universe of human proteins at neXtProt for AOX1: NX_Q06278

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q06278

4/21 DME Specific Peptides for AOX1 (Q06278) (see all 21)

AFRQAQR

QVKDILAD

KHGRAVRC

VEFKRTLI

AOX1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_001150.3

ENSEMBL proteins:

ENSP00000363832 ENSP00000392485 ENSP00000260930 ENSP00000413326

Human Recombinant Protein Products:

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	Browse ProSpec Recombinant Proteins
	Uscn Proteins for AOX1

Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005737	cytoplasm	IDA	--

AOX1 for ontologies About GeneDecksing

AOX1 Antibody Products:

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	ThermoFisher Antibodies for AOX1

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	Uscn ELISAs and CLIAs for AOX1

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

AOX1 for domains About GeneDecksing

5/14 InterPro domains/families (see all 14):

IPR016208 Ald_Oxase/xanthine_DH

IPR014313 Aldehyde_oxidase

IPR001041 2Fe-2S_ferredoxin-type

IPR002346 Mopterin_DH_FAD-bd

IPR012675 Beta-grasp_dom

Graphical View of Domain Structure for InterPro Entry Q06278

ProtoNet protein and cluster: Q06278

5/6 Blocks protein families (see all 6):

IPB000674 Aldehyde oxidase and xanthine dehydrogenase

IPB001041 Ferredoxin

IPB002346 Molybdopterin dehydrogenase

IPB002888 [2Fe-2S]-binding

IPB005107 CO dehydrogenase flavoprotein C-terminal domain

UniProtKB/Swiss-Prot: ADO_HUMAN, Q06278

Similarity: Belongs to the xanthine dehydrogenase family

Similarity: Contains 1 2Fe-2S ferredoxin-type domain

Similarity: Contains 1 FAD-binding PCMH-type domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: ADO_HUMAN, Q06278

Catalytic activity: An aldehyde + H(2)O + O(2) = a carboxylate + H(2)O(2)

Genatlas biochemistry entry for AOX1:

aldehyde oxidase expressed in glial cell of spinal cord

Enzyme Number (IUBMB): EC 1.2.3.1¹ ²

miRNA Products:		OriGene 3'-UTR Clone: AOX1 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat AOX1
		4 QIAGEN miScript miRNA Assays for microRNAs that regulate AOX1:
		hsa-miR-34a* hsa-miR-877 hsa-miR-3916 hsa-miR-3125
		SwitchGear 3'UTR luciferase reporter plasmid: AOX1 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for AOX1 (see all 7) OriGene shRNA RFP: AOX1 OriGene siRNA: AOX1
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat AOX1

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for AOX1

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		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for AOX1 (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for AOX1 OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: AOX1 (NM_001159)
		Sino Biological Human cDNA Clone for AOX1
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Cell Line Products:		GenScript Custom overexpressing Cell Line Services for AOX1
		Search LifeMap BioReagents cell lines for AOX1

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AOX1

Gene Ontology (GO): 5/11 molecular function terms (GO ID links to tree view) (see all 11): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004031	aldehyde oxidase activity	IEA	--
GO:0004854	xanthine dehydrogenase activity	TAS	8248161
GO:0005506	iron ion binding	IEA	--
GO:0008762	UDP-N-acetylmuramate dehydrogenase activity	IEA	--
GO:0009055	electron carrier activity	IEA	--

AOX1 for ontologies About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/10 super-pathways (see all 10) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

NAD metabolism

	NAD metabolism	1.00			Nicotinate and nicotinamide metabolism	0.43
	NAD metabolism	1.00

Tryptophan metabolism

Tryptophan metabolism

1.00

Tryptophan metabolism

0.47

nicotine degradation III

nicotine degradation III

1.00

nicotine degradation IV

0.62

Nicotine Pathway, Pharmacokinetics

Nicotine Pathway, Pharmacokinetics

1.00

Nicotine metabolism

0.60

Drug metabolism - cytochrome P450

Drug metabolism - cytochrome P450

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

1 EMD Millipore Pathway for AOX1

NAD metabolism

1 GeneGo (Thomson Reuters) Pathway for AOX1

NAD metabolism

4 BioSystems Pathways for AOX1

	Nicotine metabolism
	nicotine degradation IV
	nicotine degradation III
	Tryptophan metabolism

2 PharmGKB Pathways for AOX1

	Nicotine Pathway, Pharmacokinetics
	Thiopurine Pathway, Pharmacokinetics/Pharmacodynamics

5/7 Kegg Pathways (Kegg details for AOX1) (see all 7):

	Valine, leucine and isoleucine degradation
	Tyrosine metabolism
	Tryptophan metabolism
	Vitamin B6 metabolism
	Nicotinate and nicotinamide metabolism

AOX1 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for AOX1

STRING Interaction Network Preview (showing 5 interactants - click image to see 23)

5/23 Interacting proteins for AOX1 (Q06278³ ENSP00000363832⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 23)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
ABCA1	O95477³, ENSP00000363868⁴	I2D: score=2 STRING: ENSP00000363868
CYP2U1	ENSP00000333212⁴	STRING: ENSP00000333212
CYP4X1	ENSP00000360968⁴	STRING: ENSP00000360968
MAOA	ENSP00000340684⁴	STRING: ENSP00000340684
MAOB	ENSP00000367309⁴	STRING: ENSP00000367309

About this table

Gene Ontology (GO): 2 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006954	inflammatory response	TAS	8248161
GO:0072593	reactive oxygen species metabolic process	TAS	7570184

AOX1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

AOX1 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for AOX1

10/20 HMDB Compounds for AOX1 (see all 20) About this table

Compound	Synonyms	CAS #	PubMed Ids
4-Pyridoxic acid	2-Methyl-3-hydroxy-4-carboxy-5-hydroxymethylpyridine (see all 18)	82-82-6	939227
(S)-Methylmalonic acid semialdehyde	(S)-Methylmalonate semialdehyde (see all 3)	99043-16-0	--
1-Methylnicotinamide	1-Methyl-3-carbamoylpyridinium (see all 13)	3106-60-3	--
5-Hydroxyindoleacetaldehyde	(5-hydroxy-1H-indol-3-yl)acetaldehyde (see all 6)	1892-21-3	--
5-Hydroxyindoleacetic acid	5-Hydroxy-1H-indole-3-acetate (see all 18)	54-16-0	--
Cotinine	(-)-Cotinine (see all 6)	486-56-6	--
FAD	1H-Purin-6-amine flavin dinucleotide (see all 21)	146-14-5	--
Gentisate aldehyde	2,5-Dihydroxybenzaldehyde polymer (see all 3)	1194-98-5	--
Gentisic acid	2,5-Dihydroxybenzoate (see all 20)	490-79-9	--
Heme	(protoporphyrinato)iron (see all 19)	14875-96-8	--

10/12 DrugBank Compounds for AOX1 (see all 12) About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Methotrexate	Amethopterin (see all 12)	59-05-2	enzyme	substrate	10385213 19644884 20444863
Raloxifene	LY-139481 (see all 6)	84449-90-1	enzyme	inhibitor	14709625 19356090 14681337
Famciclovir	Famciclovirum [INN-Latin] (see all 2)	104227-87-4	enzyme	substrate	9224775 12161167
NADH	beta-DPNH (see all 18)	606-68-8	enzyme	substrate	19801639 10687026
Zaleplon	--	151319-34-5	enzyme	substrate	14709625 12419014
Zonisamide	Zonisamida [Spanish] (see all 2)	68291-97-4	enzyme	substrate	8742231 11456132
Allopurinol	Allopurinol Sodium (see all 3)	315-30-0	enzyme	substrate	8216357
Aminocaproic Acid	6-aminohexanoic acid (see all 7)	60-32-2	enzyme	substrate	2502880
Brimonidine	Brimonidine tartrate (see all 2)	59803-98-4	enzyme	substrate	8905918
Ethyl carbamate	Aethylcarbamat [german] (see all 20)	51-79-6	enzyme	substrate	6689178

10/70 Novoseek chemical compound relationships for AOX1 gene (see all 70) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
xanthine	87.3	105	1449601 (5), 15569272 (3), 15230339 (3), 7570184 (2) (see all 67)
moco	85.6	7	10327149 (1), 17368066 (1), 10746556 (1), 11549764 (1) (see all 5)
ipdr	85.3	9	1599512 (2), 8168099 (1), 9516958 (1)
molybdenum	85.1	39	11302742 (3), 8302261 (2), 16784786 (2), 12385777 (1) (see all 28)
5-hydroxypyrazinamide	83.7	3	10481935 (1), 8216357 (1)
isovanillin	82.3	3	11569533 (1), 9516958 (1), 7736920 (1)
abscisic aldehyde	82.1	2	11050171 (2)
n(1)-methylnicotinamide	80	3	19960564 (1), 8654204 (1), 9161710 (1)
2-hydroxypyrimidine	77.6	1	11456132 (1)
menadione	77.3	14	10385213 (2), 8149871 (1), 11456132 (1), 2170242 (1) (see all 11)

Search CenterWatch for drugs/clinical trials and news about AOX1 / ADO

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for AOX1 gene:

NM_001159.3

Unigene Cluster for AOX1:

Aldehyde oxidase 1

Hs.406238 [show with all ESTs]

Unigene Representative Sequence: L11005

8 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000374700(uc002uvx.3 uc010zhf.2 uc010fsu.3) ENST00000454629

ENST00000485965 ENST00000465297 ENST00000485106 ENST00000472553 ENST00000260930

ENST00000439380

miRNA Products:		OriGene 3'-UTR Clone: AOX1 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat AOX1
		4 QIAGEN miScript miRNA Assays for microRNAs that regulate AOX1:
		hsa-miR-34a* hsa-miR-877 hsa-miR-3916 hsa-miR-3125
		SwitchGear 3'UTR luciferase reporter plasmid: AOX1 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for AOX1 (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for AOX1 OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: AOX1 (NM_001159)
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		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat AOX1
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat AOX1

Additional cDNA sequence:

AB046692.1 AK297930.1 AK301052.1 AK307738.1 BC117179.1 BC117181.1 L11005.1

6 DOTS entries:

DT.445122 DT.100820510 DT.100820508 DT.92063691 DT.99997703 DT.120971915

24/130 AceView cDNA sequences (see all 130):

AV645676 AA371049 AB046692 AV656539 CA392327 BG618224 BG617280 BX280924

BM264288 BQ227352 CO249741 BQ774999 BG620783 AW292258 CF552167 CB162076

AV655595 BG533564 AW296119 BG618564 CN480570 BG618511 BU629692 L11005

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

AOX1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CATAAATATT

About this image

AOX1 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

2 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Brain

Blood Brain Barrier

Adult Endothelial Cells

Blood Brain Barrier, Endothelium

Ovary

Antral Follicle

Mature Granulosa Cells

Ovary

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

PureStem™ progenitor SK17 (Embryonic Progenitor Cell)

See AOX1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for AOX1

SOURCE GeneReport for Unigene cluster: Hs.406238

UniProtKB/Swiss-Prot: ADO_HUMAN, Q06278

Tissue specificity: Abundant in liver, lower levels in lung, skeletal muscle, pancreas. Undetected in heart, brain and

kidney

SABiosciences Expression via Pathway-Focused PCR Arrays including AOX1:

Amino Acid Metabolism I in human mouse rat

Oxidative Stress in human mouse rat

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AOX1

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the last universal common ancestor (LUCA).

Orthologs for AOX1 gene from 10/27 species (see all 27) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Aox1^{1 , 5}	aldehyde oxidase 1^{1, 5}	84.2(n)¹ 83.45(a)¹		1 (28.86 cM)⁵ 11761¹ NM_009676.2¹ NP_033806.2¹ 58029931⁵
chicken (Gallus gallus)	Aves	AOX1¹	aldehyde oxidase 1	68.92(n) 66.14(a)		424071 NM_001038692.1 NP_001033781.1
lizard (Anolis carolinensis)	Reptilia	AOX1⁶	--	65(a)	1 ↔ 1	1(117850048-117906321)
African clawed frog (Xenopus laevis)	Amphibia	BJ094105.1²	--	76.44(n)		BJ094105.1
zebrafish (Danio rerio)	Actinopterygii	aox1¹	aldehyde oxidase 1	60.32(n) 55.95(a)		570457 XM_693938.4 XP_699030.4
fruit fly (Drosophila melanogaster)	Insecta	ry³	xanthine dehydrogenase	44(a) (best of 3)		3 87D9 --
worm (Caenorhabditis elegans)	Secernentea	F55B11.1³	xanthine dehydrogenase	40(a) (best of 2)		IV(14401351-14413053) --
thale cress (Arabidopsis thaliana)	eudicotyledons	ATXDH1⁶ XDH2⁶	xanthine dehydrogenase 2	39(a) 39(a)	possible ortholog possible ortholog	4(16618573-16625057) 4(16625555-16631327)
rice (Oryza sativa)	Liliopsida	--	aldehyde oxidase, putative, expressed	40(a)	possible ortholog	3(17984345-17997280)
E. coli (Escherichia coli)	Gamma proteobacteria	xdhC⁶ paoA⁶ (see all 5)	PaoABC aldehyde oxidoreductase, 2Fe-2S subunit (see all 5)	34(a) 25(a) (see all 5)	possible ortholog possible ortholog (see all 5)	Chromosome(3001511-3001990) Chromosome(301108-301797)

ENSEMBL Gene Tree for AOX1 (if available)
TreeFam Gene Tree for AOX1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for AOX1 gene

XDH²

1 SIMAP similar gene for AOX1 using alignment to 4 protein entries: ADO_HUMAN (see all proteins):

XDH

AOX1 for paralogs About GeneDecksing

2 Pseudogenes.org Pseudogenes for AOX1
PGOHUM00000241059 PGOHUM00000241060

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
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SNP ID	Valid	Clinical significance	Chr 2 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs141323521^1,2		--	201448830(+)	`ATACAC/TAGTTT`	3	--	us2k¹ ds500¹		0	--	--	--	--
rs17593621^1,2	C,F,	--	201448896(+)	`GACAAT/CATCTG`	3	--	ds500¹ us2k¹		8		NA WA EA	502
rs183736595^1,2		--	201448977(+)	`TCCTAA/GTACCA`	3	--	us2k¹ ds500¹		0	--	--	--	--
rs189176476^1,2		--	201449031(+)	`TTAGTC/TAATAG`	3	--	ds500¹ us2k¹		0	--	--	--	--
rs73044173^1,2	C,	--	201449144(+)	`TCAGGC/TAATGC`	3	--	us2k¹ ds500¹		1		WA	2
rs4674197^1,2	F,	--	201449374(+)	`CTTTAG/CATCTA`	1	--	us2k¹		4		NA EA	244
rs12621063^1,2	C,F,A,H,	--	201449442(+)	`AGCCAC/AATTCA`	1	--	us2k¹		26		NS EA NA WA CSA	2772
rs193123980^1,2		--	201449526(+)	`TTTAGA/GTCAAA`	1	--	us2k¹		0	--	--	--	--
rs143689032^1,2		--	201449633(+)	`GTTGCA/GGCTGA`	1	--	us2k¹		0	--	--	--	--
rs116460199^1,2		--	201449712(+)	`TACTAC/GAAAAA`	1	--	us2k¹		1		WA	118

HapMap Linkage Disequilibrium report for AOX1 (201450591 - 201541787 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for AOX1
1 CNV: 90215
Human Gene Mutation Database (HGMD): AOX1

SABiosciences Cancer Mutation PCR Assays

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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AOX1 for disorders           About GeneDecksing

OMIM gene information: 602841    OMIM disorders: --

20/29 diseases for AOX1 (see all 29):    About MalaCards

amyotrophic lateral sclerosis lateral sclerosis molybdenum cofactor deficiency molybdenum cofactor deficiency, type a

xanthinuria end stage renal failure xanthinuria type 1 nonalcoholic steatohepatitis

type 1 diabetes mellitus hemopneumothorax diabetes mellitus inflammatory bowel disease

hearing loss intrahepatic cholangiocarcinoma rheumatoid arthritis influenza

cholangiocarcinoma parkinson's disease osteoporosis colon cancer

1 disease from the University of Copenhagen DISEASES database for AOX1:

Benign meningioma

10 Novoseek disease relationships for AOX1 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
molybdenum cofactor deficiency	90.6	11	9634514 (1), 12385777 (1), 9415683 (1), 19544009 (1) (see all 7)
xanthinuria, type ii	90.1	3	11302742 (2), 17368066 (1)
xanthinuria, type i	88.7	1	8216357 (1)
xanthinuria	87.7	3	9510406 (1), 8216357 (1)
tumors	2.72	3	8168099 (1), 17992631 (1), 9816221 (1)
genetic disorder	0	1	15115759 (1)
neurological disorders	0	2	12385777 (1), 10701843 (1)
renal disease	0	1	15734728 (1)
amyotrophic lateral sclerosis	0	1	7570184 (1)
influenza	0	1	9631526 (1)

Human Genome Epidemiology (HuGE) Navigator: AOX1 (5 documents)

Export disorders for AOX1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for AOX1 gene, integrated from 9 sources (see all 198):
(articles sorted by number of sources associating them with AOX1)

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Analysis of aldehyde oxidase and xanthine dehydrogenase/oxidase as possible candidate genes for autosomal recessive familial amyotrophic lateral sclerosis. (PubMed id 7570184)^{1, 3, 9} Berger R....Patterson D. (1995)
Mutation of human molybdenum cofactor sulfurase gene is responsible to classical xanthinuria type II. (PubMed id 11302742)^{1, 2, 9} Ichida K.... Nishino T. (2001)
cDNA cloning, characterization, and tissue-specific expression of human xanthine dehydrogenase/xanthine oxidase. (PubMed id 8248161)^{1, 2} Wright R.M....Repine J.E. (1993)
Human aldehyde oxidase 1 interacts with ATP-binding cassette transporter-1 and modulates its activity in hepatocytes. (PubMed id 17992631)^{1, 9} Sigruener A....Schmitz G. (2007)
Purification and mechanism of human aldehyde oxidase expressed in Escherichia coli. (PubMed id 19741035)^{1, 9} Alfaro J.F....Jones J.P. (2009)
Aldehyde oxidase-catalysed oxidation of methotrexate in the liver of guinea-pig, rabbit and man. (PubMed id 10385213)^{7, 9} Jordan C.G....Beedham C. (1999)
Characterization of the magnitude and mechanism of al dehyde oxidase-mediated nitric oxide production from nitrite. (PubMed id 19801639)^{7, 9} Li H....Zweier J.L. (2009)
Novel pharmacogenetic markers for treatment outcome i n azathioprine-treated inflammatory bowel disease. (PubMed id 19500084)^{1, 9} Smith M.A....Sanderson J.D. (2009)
Extremely high drug-reductase activity based on aldehyde oxidase in monkey liver. (PubMed id 11456132)^{7, 9} Kitamura S....Ohta S. (2001)
Metabolism of zaleplon by human liver: evidence for involvement of aldehyde oxidase. (PubMed id 12419014)^{7, 9} Lake B.G....Scatina J.A. (2002)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 316	HGNC: 553	AceView: AOX1	Ensembl:ENSG00000138356	euGenes: HUgn316
ECgene: AOX1	Kegg: 316	H-InvDB: AOX1

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for AOX1	Pharmacogenomics, SNPs, Pathways

Intellectual Property for AOX1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for AOX1 gene:
Search GeneIP for patents involving AOX1

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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aldehyde oxidase 1

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AOX1 Gene

aldehyde oxidase 1

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