Aox1 MGI Mouse Gene Detail - MGI:88035 - aldehyde oxidase 1

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Aox1 Gene Detail

Symbol

Aox1
Name

aldehyde oxidase 1
Synonyms

Aox-1, Aox-2, Aox2, MGC:13774, retinal oxidase

Feature Type

protein coding gene
IDs

MGI:88035
NCBI Gene: 11761
Alliance

genome feature page
Transcription Start Sites

2 TSS
Candidate for QTL

8 QTL

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Sequence Map

Chr1:58069090-58145572 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 1, 28.86 cM, cytoband C1-C2
Mapping Data

21 experiments

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SNPs within 2kb

2280 from dbSNP Build 142
Strain Annotations

19

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates	Select Strains
C57BL/6J	MGI_C57BL6J_88035	protein coding gene	Chr1:58068963-58145572 (+)
129S1/SvImJ	ENSMUSG00200018296	protein coding gene	Chr1:55571959-55648444 (+)
A/J	ENSMUSG00195029009	protein coding gene	Chr1:55105529-55182019 (+)
AKR/J	ENSMUSG00220034207	protein coding gene	Chr1:55195670-55272142 (+)
BALB/cJ	ENSMUSG00180013747	protein coding gene	Chr1:55353606-55428958 (+)
C3H/HeJ	ENSMUSG00175000990	protein coding gene	Chr1:55483054-55559546 (+)
C57BL/6NJ	ENSMUSG00215015002	protein coding gene	Chr1:55414819-55491303 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0014158	protein coding gene	Chr1:51792925-51865573 (+)
CAST/EiJ	ENSTCUG00005012800	protein coding gene	Chr1:55272144-55342722 (+)
CBA/J	ENSMUSG00210034630	protein coding gene	Chr1:55163851-55240332 (+)
DBA/2J	ENSMUSG00185039986	protein coding gene	Chr1:56283541-56360020 (+)
FVB/NJ	ENSMUSG00205013467	protein coding gene	Chr1:55128848-55205332 (+)
JF1/MsJ	ENSUMUG00000024860	protein coding gene	Chr1:55256173-55331726 (+)
LP/J	ENSMUSG00230028199	protein coding gene	Chr1:56294025-56369353 (+)
NOD/ShiLtJ	ENSMUSG00190027790	protein coding gene	Chr1:55341325-55417830 (+)
NZO/HlLtJ	ENSMUSG00225007827	protein coding gene	Chr1:59490768-59567261 (+)
PWK/PhJ	ENSLUMG00010023662	protein coding gene	Chr1:54793821-54869277 (+)
SPRET/EiJ	ENSMSPG00010021993	protein coding gene	Chr1:56647001-56728152 (+)
WSB/EiJ	ENSIUOG00005018129	protein coding gene	Chr1:54959807-55035155 (+)

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Human Ortholog

AOX1, aldehyde oxidase 1

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

AOX1, aldehyde oxidase 1
Synonyms

AO, AOH1
Links

HGNC:553

NCBI Gene ID: 316

UniProt: Q06278
Chr Location

2q33.1; chr2:200585864-200682241 (+) GRCh38

MGI Vertebrate Homology

Aox1 stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: AOX1
Protein SuperFamily

Xanthine_DH
Gene Tree

Aox1

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Diseases

1 with human AOX1 associations

				Human Disease	Mouse Models
				amyotrophic lateral sclerosis IDs amyotrophic lateral sclerosis DOID:332 ICD10CM:G12.21 ICD9CM:335.20 KEGG:05014 MESH:D000690 NCI:C34373 OMIM:PS105400 ORDO:803 UMLS_CUI:C0002736

Click on a disease name to see all genes associated with that disease.

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Phenotype Summary

9 phenotype references

All Mutations and Alleles

8
Chemically induced (other)

1
Endonuclease-mediated

4
Radiation induced

1
Targeted

2
Genomic Mutations

2 involving Aox1
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

77 strains or lines available

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All GO Annotations

61
GO References

16

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

693
Tissues

95
cDNA Data

18
Literature Summary

4

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas

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All Sequences

73
RefSeq

4
UniProt

4
CCDS

CCDS35575.1

Ensembl

ENSMUSG00000063558 (Evidence)
NCBI Gene

11761

Representative Sequences				Length	Strain/Species	Flank
	genomic	ENSMUSG00000063558	Ensembl Gene Model \| MGI Sequence Detail	76483	C57BL/6J	± kb
	transcript	ENSMUST00000001027	Ensembl \| MGI Sequence Detail	4423	Not Applicable
	polypeptide	ENSMUSP00000001027	Ensembl \| MGI Sequence Detail	1333	Not Applicable

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UniProt

4 Sequences
Protein Ontology

PR:000004089 aldehyde oxidase

(term hierarchy)
EC

1.17.3.-, 1.2.3.1, 1.2.3.8, 1.2.3.9
InterPro Domains

IPR002888 [2Fe-2S]-binding

IPR036884 [2Fe-2S]-binding domain superfamily

IPR006058 2Fe-2S ferredoxin, iron-sulphur binding site

IPR036010 2Fe-2S ferredoxin-like superfamily

IPR001041 2Fe-2S ferredoxin-type iron-sulfur binding domain

IPR014313 Aldehyde oxidase

IPR000674 Aldehyde oxidase/xanthine dehydrogenase, a/b hammerhead

IPR036856 Aldehyde oxidase/xanthine dehydrogenase, a/b hammerhead superfamily

IPR008274 Aldehyde oxidase/xanthine dehydrogenase, first molybdopterin binding domain

IPR016208 Aldehyde oxidase/xanthine dehydrogenase-like

IPR037165 Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding domain superfamily

IPR046867 Aldehyde oxidase/xanthine dehydrogenase, second molybdopterin binding domain

IPR012675 Beta-grasp domain superfamily

IPR005107 CO dehydrogenase flavoprotein, C-terminal

IPR036683 CO dehydrogenase flavoprotein, C-terminal domain superfamily

IPR016166 FAD-binding domain, PCMH-type

IPR036318 FAD-binding, type PCMH-like superfamily

IPR016167 FAD-binding, type PCMH, subdomain 1

IPR016169 FAD-binding, type PCMH, subdomain 2

IPR002346 Molybdopterin dehydrogenase, FAD-binding

IPR022407 Oxidoreductase, molybdopterin binding site
GlyGen

O54754 1 site, 1 O-linked glycan (1 site)

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All nucleic 21

Genomic 1

cDNA 18

Primer pair 2

Microarray probesets 3

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MGD-MRK-1340, MGD-MRK-1341, MGD-MRK-1342, MGD-MRK-1343, MGI:2138173, MGI:2138181, MGI:88036

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Summaries

All 71

Developmental Gene Expression 4

Gene Ontology 16

Phenotypes 9
Earliest

J:5024 Gluecksohn-Waelsch S, et al., Genetic variations of an oxidase in mammals. J Biol Chem. 1967 Mar 25;242(6):1271-3
Latest

J:338238 Wei Z, et al., USP10 deubiquitinates Tau, mediating its aggregation. Cell Death Dis. 2022 Aug 20;13(8):726

TSS for Aox1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr6756	Chr1:58069114-58069133 (+)	34 bp
Tssr6757	Chr1:58069143-58069156 (+)	60 bp

Aox1 is Candidate Gene for:

QTL	Genetic Location*	Genome Location (GRCm39)	Reference	QTL Note
Insq2	Chr1, syntenic		J:99477	Authors used novel data mining tool ExQuest to identify novel candidate genes for existing diabesity QTLs. Next, candidate gene expression in the liver, adipose, and pancreas of diabesity-prone Tally Ho mice and diabesity-resistant C57BL/6J mice was assessed by quantitative PCR analysis. Several potential candidate genes, some with no previous association to diabesity QTLs, were identified. Since QTL intervals may be large and could contain hundreds or thousands of potential candidate genes, this method allows researchers to focus on those with strong potential as well as identify novel candidate genes. A potential candidate gene for Obq2 at 15 cM on mouse Chromosome 1 as identified by ExQuest is Gsta3. For QTLs Obq7 (28.7 cM), Wt6q1 (27 cM), Insq2 (36cM), and Insq6 (37 cM), potential candidate genes Aox1 (23.2 cM), Fn1 (36.1 cM), Pecr, Igfbp2 (36.1 cM), Plcd4 (39.2 cM), Scg2 (43.6 cM), Irs1, and Inpp5d (57 cM) were identified. For QTL Nidd6 (77 cM), potential candidate gene Qscn6 was identified. For QTL Obq9 (88.4 cM), potential candidate genes Fmo1, Fmo3, and Apoa2 (92.6 cM) were identified. For QTL Wt6q2 (108 cM), potential candidate gene Hsd11b1 was identified.
Insq6	Chr1, 38.01 cM	Chr1:73726922-73727077	J:99477	Authors used novel data mining tool ExQuest to identify novel candidate genes for existing diabesity QTLs. Next, candidate gene expression in the liver, adipose, and pancreas of diabesity-prone Tally Ho mice and diabesity-resistant C57BL/6J mice was assessed by quantitative PCR analysis. Several potential candidate genes, some with no previous association to diabesity QTLs, were identified. Since QTL intervals may be large and could contain hundreds or thousands of potential candidate genes, this method allows researchers to focus on those with strong potential as well as identify novel candidate genes. A potential candidate gene for Obq2 at 15 cM on mouse Chromosome 1 as identified by ExQuest is Gsta3. For QTLs Obq7 (28.7 cM), Wt6q1 (27 cM), Insq2 (36cM), and Insq6 (37 cM), potential candidate genes Aox1 (23.2 cM), Fn1 (36.1 cM), Pecr, Igfbp2 (36.1 cM), Plcd4 (39.2 cM), Scg2 (43.6 cM), Irs1, and Inpp5d (57 cM) were identified. For QTL Nidd6 (77 cM), potential candidate gene Qscn6 was identified. For QTL Obq9 (88.4 cM), potential candidate genes Fmo1, Fmo3, and Apoa2 (92.6 cM) were identified. For QTL Wt6q2 (108 cM), potential candidate gene Hsd11b1 was identified.
Nidd6	Chr1, 65.11 cM		J:99477	Authors used novel data mining tool ExQuest to identify novel candidate genes for existing diabesity QTLs. Next, candidate gene expression in the liver, adipose, and pancreas of diabesity-prone Tally Ho mice and diabesity-resistant C57BL/6J mice was assessed by quantitative PCR analysis. Several potential candidate genes, some with no previous association to diabesity QTLs, were identified. Since QTL intervals may be large and could contain hundreds or thousands of potential candidate genes, this method allows researchers to focus on those with strong potential as well as identify novel candidate genes. A potential candidate gene for Obq2 at 15 cM on mouse Chromosome 1 as identified by ExQuest is Gsta3. For QTLs Obq7 (28.7 cM), Wt6q1 (27 cM), Insq2 (36cM), and Insq6 (37 cM), potential candidate genes Aox1 (23.2 cM), Fn1 (36.1 cM), Pecr, Igfbp2 (36.1 cM), Plcd4 (39.2 cM), Scg2 (43.6 cM), Irs1, and Inpp5d (57 cM) were identified. For QTL Nidd6 (77 cM), potential candidate gene Qscn6 was identified. For QTL Obq9 (88.4 cM), potential candidate genes Fmo1, Fmo3, and Apoa2 (92.6 cM) were identified. For QTL Wt6q2 (108 cM), potential candidate gene Hsd11b1 was identified.
Obq2	Chr1, 6.50 cM	Chr1:20941620-20941887	J:99477	Authors used novel data mining tool ExQuest to identify novel candidate genes for existing diabesity QTLs. Next, candidate gene expression in the liver, adipose, and pancreas of diabesity-prone Tally Ho mice and diabesity-resistant C57BL/6J mice was assessed by quantitative PCR analysis. Several potential candidate genes, some with no previous association to diabesity QTLs, were identified. Since QTL intervals may be large and could contain hundreds or thousands of potential candidate genes, this method allows researchers to focus on those with strong potential as well as identify novel candidate genes. A potential candidate gene for Obq2 at 15 cM on mouse Chromosome 1 as identified by ExQuest is Gsta3. For QTLs Obq7 (28.7 cM), Wt6q1 (27 cM), Insq2 (36cM), and Insq6 (37 cM), potential candidate genes Aox1 (23.2 cM), Fn1 (36.1 cM), Pecr, Igfbp2 (36.1 cM), Plcd4 (39.2 cM), Scg2 (43.6 cM), Irs1, and Inpp5d (57 cM) were identified. For QTL Nidd6 (77 cM), potential candidate gene Qscn6 was identified. For QTL Obq9 (88.4 cM), potential candidate genes Fmo1, Fmo3, and Apoa2 (92.6 cM) were identified. For QTL Wt6q2 (108 cM), potential candidate gene Hsd11b1 was identified.
Obq7	Chr1, 33.31 cM		J:99477	Authors used novel data mining tool ExQuest to identify novel candidate genes for existing diabesity QTLs. Next, candidate gene expression in the liver, adipose, and pancreas of diabesity-prone Tally Ho mice and diabesity-resistant C57BL/6J mice was assessed by quantitative PCR analysis. Several potential candidate genes, some with no previous association to diabesity QTLs, were identified. Since QTL intervals may be large and could contain hundreds or thousands of potential candidate genes, this method allows researchers to focus on those with strong potential as well as identify novel candidate genes. A potential candidate gene for Obq2 at 15 cM on mouse Chromosome 1 as identified by ExQuest is Gsta3. For QTLs Obq7 (28.7 cM), Wt6q1 (27 cM), Insq2 (36cM), and Insq6 (37 cM), potential candidate genes Aox1 (23.2 cM), Fn1 (36.1 cM), Pecr, Igfbp2 (36.1 cM), Plcd4 (39.2 cM), Scg2 (43.6 cM), Irs1, and Inpp5d (57 cM) were identified. For QTL Nidd6 (77 cM), potential candidate gene Qscn6 was identified. For QTL Obq9 (88.4 cM), potential candidate genes Fmo1, Fmo3, and Apoa2 (92.6 cM) were identified. For QTL Wt6q2 (108 cM), potential candidate gene Hsd11b1 was identified.
Obq9	Chr1, 74.68 cM		J:99477	Authors used novel data mining tool ExQuest to identify novel candidate genes for existing diabesity QTLs. Next, candidate gene expression in the liver, adipose, and pancreas of diabesity-prone Tally Ho mice and diabesity-resistant C57BL/6J mice was assessed by quantitative PCR analysis. Several potential candidate genes, some with no previous association to diabesity QTLs, were identified. Since QTL intervals may be large and could contain hundreds or thousands of potential candidate genes, this method allows researchers to focus on those with strong potential as well as identify novel candidate genes. A potential candidate gene for Obq2 at 15 cM on mouse Chromosome 1 as identified by ExQuest is Gsta3. For QTLs Obq7 (28.7 cM), Wt6q1 (27 cM), Insq2 (36cM), and Insq6 (37 cM), potential candidate genes Aox1 (23.2 cM), Fn1 (36.1 cM), Pecr, Igfbp2 (36.1 cM), Plcd4 (39.2 cM), Scg2 (43.6 cM), Irs1, and Inpp5d (57 cM) were identified. For QTL Nidd6 (77 cM), potential candidate gene Qscn6 was identified. For QTL Obq9 (88.4 cM), potential candidate genes Fmo1, Fmo3, and Apoa2 (92.6 cM) were identified. For QTL Wt6q2 (108 cM), potential candidate gene Hsd11b1 was identified.
Wt6q1	Chr1, syntenic		J:99477	Authors used novel data mining tool ExQuest to identify novel candidate genes for existing diabesity QTLs. Next, candidate gene expression in the liver, adipose, and pancreas of diabesity-prone Tally Ho mice and diabesity-resistant C57BL/6J mice was assessed by quantitative PCR analysis. Several potential candidate genes, some with no previous association to diabesity QTLs, were identified. Since QTL intervals may be large and could contain hundreds or thousands of potential candidate genes, this method allows researchers to focus on those with strong potential as well as identify novel candidate genes. A potential candidate gene for Obq2 at 15 cM on mouse Chromosome 1 as identified by ExQuest is Gsta3. For QTLs Obq7 (28.7 cM), Wt6q1 (27 cM), Insq2 (36cM), and Insq6 (37 cM), potential candidate genes Aox1 (23.2 cM), Fn1 (36.1 cM), Pecr, Igfbp2 (36.1 cM), Plcd4 (39.2 cM), Scg2 (43.6 cM), Irs1, and Inpp5d (57 cM) were identified. For QTL Nidd6 (77 cM), potential candidate gene Qscn6 was identified. For QTL Obq9 (88.4 cM), potential candidate genes Fmo1, Fmo3, and Apoa2 (92.6 cM) were identified. For QTL Wt6q2 (108 cM), potential candidate gene Hsd11b1 was identified.
Wt6q2	Chr1, syntenic		J:99477	Authors used novel data mining tool ExQuest to identify novel candidate genes for existing diabesity QTLs. Next, candidate gene expression in the liver, adipose, and pancreas of diabesity-prone Tally Ho mice and diabesity-resistant C57BL/6J mice was assessed by quantitative PCR analysis. Several potential candidate genes, some with no previous association to diabesity QTLs, were identified. Since QTL intervals may be large and could contain hundreds or thousands of potential candidate genes, this method allows researchers to focus on those with strong potential as well as identify novel candidate genes. A potential candidate gene for Obq2 at 15 cM on mouse Chromosome 1 as identified by ExQuest is Gsta3. For QTLs Obq7 (28.7 cM), Wt6q1 (27 cM), Insq2 (36cM), and Insq6 (37 cM), potential candidate genes Aox1 (23.2 cM), Fn1 (36.1 cM), Pecr, Igfbp2 (36.1 cM), Plcd4 (39.2 cM), Scg2 (43.6 cM), Irs1, and Inpp5d (57 cM) were identified. For QTL Nidd6 (77 cM), potential candidate gene Qscn6 was identified. For QTL Obq9 (88.4 cM), potential candidate genes Fmo1, Fmo3, and Apoa2 (92.6 cM) were identified. For QTL Wt6q2 (108 cM), potential candidate gene Hsd11b1 was identified.

*cM position of peak correlated region/marker

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