AOX1 (aldehyde oxidase 1) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: AOX1 (aldehyde oxidase 1) Homo sapiens
Analyze
Symbol: AOX1
Name: aldehyde oxidase 1
RGD ID: 733539
HGNC Page HGNC
Description: Exhibits several functions, including 2 iron, 2 sulfur cluster binding activity; molybdopterin cofactor binding activity; and protein homodimerization activity. Involved in drug metabolic process. Localizes to cytosol. Implicated in amyotrophic lateral sclerosis.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: aldehyde oxidase; AO; AOH1; azaheterocycle hydroxylase
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2200,586,014 - 200,677,064 (+)EnsemblGRCh38hg38GRCh38
GRCh382200,585,952 - 200,677,064 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh372201,450,737 - 201,536,218 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362201,158,976 - 201,244,463 (+)NCBINCBI36hg18NCBI36
Build 342201,276,043 - 201,361,720NCBI
Celera2195,205,613 - 195,291,094 (+)NCBI
Cytogenetic Map2q33.1NCBI
HuRef2193,302,067 - 193,387,763 (+)NCBIHuRef
CHM1_12201,456,717 - 201,542,113 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,1-dichloroethene  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,6-dinitrotoluene  (ISO)
2-acetamidofluorene  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,4-dichloroaniline  (EXP)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4-hydroxynon-2-enal  (ISO)
6alpha-methylprednisolone  (EXP)
acetamide  (ISO)
aflatoxin B1  (EXP,ISO)
all-trans-retinol  (ISO)
alpha-D-galactose  (EXP)
ammonium chloride  (ISO)
azathioprine  (EXP)
belinostat  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[b]fluoranthene  (ISO)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (ISO)
buta-1,3-diene  (ISO)
butanal  (EXP)
cadmium sulfide  (EXP)
carbon nanotube  (ISO)
carbonyl sulfide  (ISO)
cerium trichloride  (EXP)
chenodeoxycholic acid  (EXP)
chitosan  (ISO)
chlorohydrocarbon  (ISO)
chloroprene  (ISO)
chlorpyrifos  (ISO)
cisplatin  (EXP)
clobetasol  (ISO)
cobalt dichloride  (ISO)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP)
cyclosporin A  (EXP,ISO)
cyfluthrin  (EXP)
deoxycholic acid  (EXP)
dexamethasone  (EXP,ISO)
dicrotophos  (EXP)
dieldrin  (ISO)
dioxygen  (ISO)
diuron  (EXP)
dorsomorphin  (EXP)
doxorubicin  (EXP)
elemental selenium  (ISO)
ethanol  (EXP,ISO)
fipronil  (ISO)
flutamide  (ISO)
galactose  (EXP)
glycidol  (ISO)
glycochenodeoxycholic acid  (EXP)
glycocholic acid  (EXP)
glycodeoxycholic acid  (EXP)
indometacin  (EXP)
isobutanol  (EXP)
isoflavones  (EXP)
isoprenaline  (ISO)
leflunomide  (ISO)
melatonin  (EXP)
menadione  (EXP)
mercury dibromide  (EXP)
methapyrilene  (ISO)
methotrexate  (EXP)
methylmercury chloride  (EXP,ISO)
mitomycin C  (EXP)
mono(2-ethylhexyl) phthalate  (EXP)
N-methylformamide  (ISO)
N-nitrosodiethylamine  (ISO)
nefazodone  (EXP,ISO)
nickel sulfate  (EXP)
nitrogen dioxide  (EXP)
ozone  (ISO)
p-chloromercuribenzoic acid  (EXP)
p-toluidine  (ISO)
paclitaxel  (EXP)
panobinostat  (EXP)
paracetamol  (EXP,ISO)
pentachlorophenol  (ISO)
pentanal  (EXP)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (EXP,ISO)
permethrin  (ISO)
phenobarbital  (ISO)
phenylmercury acetate  (EXP)
phlorizin  (ISO)
phytoestrogen  (EXP)
pirinixic acid  (ISO)
potassium chromate  (EXP)
prednisolone  (EXP)
progesterone  (EXP,ISO)
propanal  (EXP)
quercetin  (EXP)
raloxifene  (EXP)
resveratrol  (ISO)
rofecoxib  (EXP)
SB 431542  (EXP)
selenium atom  (ISO)
silicon dioxide  (EXP)
silver atom  (ISO)
silver(0)  (ISO)
sodium arsenite  (ISO)
sodium aurothiomalate  (EXP)
succimer  (EXP)
tert-butyl hydroperoxide  (EXP)
testosterone  (ISO)
tetrachloromethane  (ISO)
topotecan  (EXP)
trichostatin A  (EXP)
trimellitic anhydride  (ISO)
triphenyl phosphate  (ISO)
triptonide  (ISO)
tris(2-butoxyethyl) phosphate  (EXP)
tungstate  (ISO)
urethane  (EXP)
valproic acid  (EXP,ISO)
vincaleukoblastine  (EXP)
zaleplon  (EXP)
zinc atom  (ISO)
zinc(0)  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cytosol  (IDA,TAS)
extracellular exosome  (HDA)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:8043023   PMID:8248161   PMID:8889548   PMID:11302742   PMID:12054535   PMID:12477932   PMID:16712791   PMID:17992631   PMID:18029348   PMID:19056867   PMID:19500084   PMID:19741035  
PMID:19898482   PMID:20351267   PMID:20379614   PMID:20444863   PMID:20800603   PMID:21873635   PMID:21988832   PMID:22031625   PMID:22279051   PMID:22449649   PMID:22495427   PMID:22522748  
PMID:22996261   PMID:23263164   PMID:23857892   PMID:23918943   PMID:25537183   PMID:25845827   PMID:26032640   PMID:26322824   PMID:26842593   PMID:26845356   PMID:28606603   PMID:28750088  
PMID:30097533   PMID:30289108   PMID:30293322   PMID:30367827   PMID:30985987   PMID:31383940   PMID:31753913   PMID:31768259   PMID:31993760  


Genomics

Comparative Map Data
AOX1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2200,586,014 - 200,677,064 (+)EnsemblGRCh38hg38GRCh38
GRCh382200,585,952 - 200,677,064 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh372201,450,737 - 201,536,218 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362201,158,976 - 201,244,463 (+)NCBINCBI36hg18NCBI36
Build 342201,276,043 - 201,361,720NCBI
Celera2195,205,613 - 195,291,094 (+)NCBI
Cytogenetic Map2q33.1NCBI
HuRef2193,302,067 - 193,387,763 (+)NCBIHuRef
CHM1_12201,456,717 - 201,542,113 (+)NCBICHM1_1
Aox1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39158,068,963 - 58,145,569 (+)NCBIGRCm39mm39
GRCm39 Ensembl158,069,090 - 58,145,572 (+)Ensembl
GRCm38158,029,809 - 58,106,410 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl158,029,931 - 58,106,413 (+)EnsemblGRCm38mm10GRCm38
MGSCv37158,086,813 - 58,163,254 (+)NCBIGRCm37mm9NCBIm37
MGSCv36157,974,550 - 58,050,959 (+)NCBImm8
Celera158,543,669 - 58,620,236 (+)NCBICelera
Cytogenetic Map1C1.3NCBI
cM Map128.86NCBI
Aox1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2959,579,621 - 59,658,772 (+)NCBI
Rnor_6.0 Ensembl964,929,721 - 65,007,870 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0964,929,682 - 65,007,872 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0964,726,609 - 64,804,786 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4956,693,698 - 56,774,115 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1956,840,679 - 56,921,097 (+)NCBI
Celera957,025,110 - 57,102,310 (+)NCBICelera
Cytogenetic Map9q31NCBI
Aox1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955403828,066 - 872,218 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955403827,538 - 875,856 (-)NCBIChiLan1.0ChiLan1.0
AOX1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12B205,996,604 - 206,083,897 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2B205,996,604 - 206,083,897 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v02B87,839,376 - 87,924,823 (+)NCBIMhudiblu_PPA_v0panPan3
AOX2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1379,912,731 - 9,992,322 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl379,913,675 - 9,992,319 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3710,799,110 - 10,877,517 (+)NCBI
ROS_Cfam_1.0379,818,121 - 9,897,733 (+)NCBI
UMICH_Zoey_3.1379,800,648 - 9,879,251 (+)NCBI
UNSW_CanFamBas_1.0379,778,952 - 9,857,094 (+)NCBI
UU_Cfam_GSD_1.0379,772,362 - 9,850,965 (+)NCBI
Aox1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303157,695,152 - 157,763,851 (+)NCBI
SpeTri2.0NW_004936825263,725 - 332,424 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
AOX1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl15104,153,702 - 104,238,400 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.115104,157,748 - 104,234,533 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.215115,429,739 - 115,506,114 (+)NCBISscrofa10.2Sscrofa10.2susScr3

Position Markers
RH11649  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372201,535,956 - 201,536,106UniSTSGRCh37
Build 362201,244,201 - 201,244,351RGDNCBI36
Celera2195,290,834 - 195,290,982RGD
Cytogenetic Map2q33UniSTS
HuRef2193,387,503 - 193,387,651UniSTS
GeneMap99-GB4 RH Map2624.57UniSTS
G31889  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372201,477,606 - 201,477,827UniSTSGRCh37
Build 362201,185,851 - 201,186,072RGDNCBI36
Celera2195,232,487 - 195,232,716RGD
Cytogenetic Map2q33UniSTS
HuRef2193,329,172 - 193,329,401UniSTS
WI-9291  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372201,535,876 - 201,535,984UniSTSGRCh37
Build 362201,244,121 - 201,244,229RGDNCBI36
Celera2195,290,754 - 195,290,862RGD
Cytogenetic Map2q33UniSTS
HuRef2193,387,423 - 193,387,531UniSTS
Whitehead-YAC Contig Map2 UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:949
Count of miRNA genes:625
Interacting mature miRNAs:694
Transcripts:ENST00000260930, ENST00000374700, ENST00000439380, ENST00000454629, ENST00000465297, ENST00000472553, ENST00000485106, ENST00000485965
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High 15 13 13
Medium 1552 1452 1316 520 169 404 3253 1109 679 242 1023 1228 120 1204 2132
Low 769 821 367 86 521 42 1042 983 1683 133 349 276 48 642 1
Below cutoff 87 701 23 3 917 5 57 97 1344 35 71 86 3 14 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001159 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011511062 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017003946 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017003947 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB046692 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC007163 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC080164 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF010260 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH005616 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297930 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307738 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL079797 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC117179 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC117181 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM681054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB153864 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FB789700 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FB794625 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FB798872 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FB811643 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FB848178 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FB866440 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FB885306 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FB890693 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FB896453 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GN364811 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HB659759 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HB664684 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HB668931 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HB681702 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HB718237 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HB736499 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HB755365 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HB760752 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HB766512 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L11005 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF667933 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000260930   ⟹   ENSP00000260930
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2200,660,037 - 200,670,650 (+)Ensembl
RefSeq Acc Id: ENST00000374700   ⟹   ENSP00000363832
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2200,586,014 - 200,671,495 (+)Ensembl
RefSeq Acc Id: ENST00000439380   ⟹   ENSP00000413326
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2200,662,907 - 200,677,064 (+)Ensembl
RefSeq Acc Id: ENST00000454629   ⟹   ENSP00000392485
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2200,588,174 - 200,603,297 (+)Ensembl
RefSeq Acc Id: ENST00000465297
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2200,609,220 - 200,670,872 (+)Ensembl
RefSeq Acc Id: ENST00000472553
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2200,638,132 - 200,642,803 (+)Ensembl
RefSeq Acc Id: ENST00000485106
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2200,609,243 - 200,671,136 (+)Ensembl
RefSeq Acc Id: ENST00000485965
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2200,609,209 - 200,613,967 (+)Ensembl
RefSeq Acc Id: NM_001159   ⟹   NP_001150
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382200,586,014 - 200,671,495 (+)NCBI
GRCh372201,450,731 - 201,536,218 (+)ENTREZGENE
Build 362201,158,976 - 201,244,463 (+)NCBI Archive
HuRef2193,302,067 - 193,387,763 (+)ENTREZGENE
CHM1_12201,456,717 - 201,542,113 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011511062   ⟹   XP_011509364
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382200,585,952 - 200,677,064 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017003946   ⟹   XP_016859435
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382200,585,952 - 200,676,979 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017003947   ⟹   XP_016859436
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382200,585,952 - 200,671,495 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001150 (Get FASTA)   NCBI Sequence Viewer  
  XP_011509364 (Get FASTA)   NCBI Sequence Viewer  
  XP_016859435 (Get FASTA)   NCBI Sequence Viewer  
  XP_016859436 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA96650 (Get FASTA)   NCBI Sequence Viewer  
  AAB83966 (Get FASTA)   NCBI Sequence Viewer  
  AAB83968 (Get FASTA)   NCBI Sequence Viewer  
  AAI17180 (Get FASTA)   NCBI Sequence Viewer  
  AAI17182 (Get FASTA)   NCBI Sequence Viewer  
  AAX93285 (Get FASTA)   NCBI Sequence Viewer  
  AAY24265 (Get FASTA)   NCBI Sequence Viewer  
  ASV51292 (Get FASTA)   NCBI Sequence Viewer  
  BAB40305 (Get FASTA)   NCBI Sequence Viewer  
  BAG60247 (Get FASTA)   NCBI Sequence Viewer  
  BAG62663 (Get FASTA)   NCBI Sequence Viewer  
  CAW36666 (Get FASTA)   NCBI Sequence Viewer  
  CAW39000 (Get FASTA)   NCBI Sequence Viewer  
  CAW41181 (Get FASTA)   NCBI Sequence Viewer  
  CAW47197 (Get FASTA)   NCBI Sequence Viewer  
  CAW63617 (Get FASTA)   NCBI Sequence Viewer  
  CAW71847 (Get FASTA)   NCBI Sequence Viewer  
  CAW80339 (Get FASTA)   NCBI Sequence Viewer  
  CAW82831 (Get FASTA)   NCBI Sequence Viewer  
  CAW86206 (Get FASTA)   NCBI Sequence Viewer  
  CAY77140 (Get FASTA)   NCBI Sequence Viewer  
  CBC02619 (Get FASTA)   NCBI Sequence Viewer  
  CBC04872 (Get FASTA)   NCBI Sequence Viewer  
  CBC06832 (Get FASTA)   NCBI Sequence Viewer  
  CBC12951 (Get FASTA)   NCBI Sequence Viewer  
  CBC45781 (Get FASTA)   NCBI Sequence Viewer  
  CBC62201 (Get FASTA)   NCBI Sequence Viewer  
  CBC79136 (Get FASTA)   NCBI Sequence Viewer  
  CBC84084 (Get FASTA)   NCBI Sequence Viewer  
  CBC89038 (Get FASTA)   NCBI Sequence Viewer  
  EAW70208 (Get FASTA)   NCBI Sequence Viewer  
  EAW70209 (Get FASTA)   NCBI Sequence Viewer  
  Q06278 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_001150   ⟸   NM_001159
- UniProtKB: Q06278 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011509364   ⟸   XM_011511062
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016859435   ⟸   XM_017003946
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016859436   ⟸   XM_017003947
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: ENSP00000413326   ⟸   ENST00000439380
RefSeq Acc Id: ENSP00000363832   ⟸   ENST00000374700
RefSeq Acc Id: ENSP00000392485   ⟸   ENST00000454629
RefSeq Acc Id: ENSP00000260930   ⟸   ENST00000260930
Promoters
RGD ID:6862478
Promoter ID:EPDNEW_H4404
Type:initiation region
Name:AOX1_3
Description:aldehyde oxidase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H4405  EPDNEW_H4407  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382200,585,952 - 200,586,012EPDNEW
RGD ID:6862480
Promoter ID:EPDNEW_H4405
Type:initiation region
Name:AOX1_2
Description:aldehyde oxidase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H4404  EPDNEW_H4407  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382200,586,053 - 200,586,113EPDNEW
RGD ID:6862484
Promoter ID:EPDNEW_H4407
Type:initiation region
Name:AOX1_1
Description:aldehyde oxidase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H4404  EPDNEW_H4405  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382200,609,243 - 200,609,303EPDNEW
RGD ID:6797266
Promoter ID:HG_KWN:36614
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   Lymphoblastoid
Transcripts:ENST00000260930,   ENST00000401149,   OTTHUMT00000335844
Position:
Human AssemblyChrPosition (strand)Source
Build 362201,158,669 - 201,159,169 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 2q31.1-33.2(chr2:174898848-203941548)x1 copy number loss See cases [RCV000050980] Chr2:174898848..203941548 [GRCh38]
Chr2:175763576..204806271 [GRCh37]
Chr2:175471822..204514516 [NCBI36]
Chr2:2q31.1-33.2
pathogenic
GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3 copy number gain See cases [RCV000051119] Chr2:194898783..236473913 [GRCh38]
Chr2:195763507..237382556 [GRCh37]
Chr2:195471752..237047295 [NCBI36]
Chr2:2q32.3-37.3
pathogenic
GRCh38/hg38 2q33.1-34(chr2:198095810-211803453)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052603]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052603]|See cases [RCV000052603] Chr2:198095810..211803453 [GRCh38]
Chr2:198960534..212668178 [GRCh37]
Chr2:198668779..212376423 [NCBI36]
Chr2:2q33.1-34
pathogenic
GRCh38/hg38 2q33.1-33.2(chr2:200520961-203566211)x1 copy number loss See cases [RCV000052605] Chr2:200520961..203566211 [GRCh38]
Chr2:201385684..204430934 [GRCh37]
Chr2:201093929..204139179 [NCBI36]
Chr2:2q33.1-33.2
pathogenic
GRCh38/hg38 2q31.1-33.1(chr2:176304445-202039790)x1 copy number loss See cases [RCV000052558] Chr2:176304445..202039790 [GRCh38]
Chr2:177169173..202904513 [GRCh37]
Chr2:176877419..202612758 [NCBI36]
Chr2:2q31.1-33.1
pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3 copy number gain See cases [RCV000052958] Chr2:188818195..242065208 [GRCh38]
Chr2:189682921..243007359 [GRCh37]
Chr2:189391166..242656032 [NCBI36]
Chr2:2q32.2-37.3
pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3 copy number gain See cases [RCV000052959] Chr2:190310736..241892770 [GRCh38]
Chr2:191175462..242834921 [GRCh37]
Chr2:190883707..242483594 [NCBI36]
Chr2:2q32.2-37.3
pathogenic
GRCh38/hg38 2q32.3-37.3(chr2:193122313-241074980)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|See cases [RCV000052960] Chr2:193122313..241074980 [GRCh38]
Chr2:193987039..242014395 [GRCh37]
Chr2:193695284..241663068 [NCBI36]
Chr2:2q32.3-37.3
pathogenic
NM_001159.3(AOX1):c.3833C>T (p.Ser1278Phe) single nucleotide variant Malignant melanoma [RCV000065356] Chr2:200669609 [GRCh38]
Chr2:201534332 [GRCh37]
Chr2:201242577 [NCBI36]
Chr2:2q33.1
not provided
NM_001159.3(AOX1):c.3805G>A (p.Gly1269Arg) single nucleotide variant Malignant melanoma [RCV000060452] Chr2:200669581 [GRCh38]
Chr2:201534304 [GRCh37]
Chr2:201242549 [NCBI36]
Chr2:2q33.1
not provided
GRCh38/hg38 2q32.3-33.2(chr2:195660594-203969488)x1 copy number loss See cases [RCV000135341] Chr2:195660594..203969488 [GRCh38]
Chr2:196525318..204834211 [GRCh37]
Chr2:196233563..204542456 [NCBI36]
Chr2:2q32.3-33.2
pathogenic
GRCh38/hg38 2q33.1(chr2:197400023-202089348)x1 copy number loss See cases [RCV000135665] Chr2:197400023..202089348 [GRCh38]
Chr2:198264747..202954071 [GRCh37]
Chr2:197972992..202662316 [NCBI36]
Chr2:2q33.1
likely pathogenic
GRCh38/hg38 2q32.1-33.1(chr2:186027472-201059372)x1 copy number loss See cases [RCV000135876] Chr2:186027472..201059372 [GRCh38]
Chr2:186892199..201924095 [GRCh37]
Chr2:186600444..201632340 [NCBI36]
Chr2:2q32.1-33.1
pathogenic
GRCh38/hg38 2q33.1(chr2:198767347-202353840)x1 copy number loss See cases [RCV000136596] Chr2:198767347..202353840 [GRCh38]
Chr2:199632071..203218563 [GRCh37]
Chr2:199340316..202926808 [NCBI36]
Chr2:2q33.1
pathogenic
GRCh38/hg38 2q33.1(chr2:200346708-201156417)x1 copy number loss See cases [RCV000136891] Chr2:200346708..201156417 [GRCh38]
Chr2:201211431..202021140 [GRCh37]
Chr2:200919676..201729385 [NCBI36]
Chr2:2q33.1
pathogenic
GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3 copy number gain See cases [RCV000139446] Chr2:180513793..224302848 [GRCh38]
Chr2:181378520..225167565 [GRCh37]
Chr2:181086765..224875809 [NCBI36]
Chr2:2q31.3-36.2
pathogenic
GRCh38/hg38 2q32.3-35(chr2:192938826-215705052)x1 copy number loss See cases [RCV000141254] Chr2:192938826..215705052 [GRCh38]
Chr2:193803552..216569775 [GRCh37]
Chr2:193511797..216278020 [NCBI36]
Chr2:2q32.3-35
pathogenic
GRCh38/hg38 2q33.1-34(chr2:199946494-209985195)x1 copy number loss See cases [RCV000141076] Chr2:199946494..209985195 [GRCh38]
Chr2:200811217..210849919 [GRCh37]
Chr2:200519462..210558164 [NCBI36]
Chr2:2q33.1-34
pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3 copy number gain See cases [RCV000142307] Chr2:189436149..241841232 [GRCh38]
Chr2:190300875..242783384 [GRCh37]
Chr2:190009120..242432057 [NCBI36]
Chr2:2q32.2-37.3
pathogenic
GRCh38/hg38 2q33.1-34(chr2:199937273-210031924)x1 copy number loss See cases [RCV000143301] Chr2:199937273..210031924 [GRCh38]
Chr2:200801996..210896648 [GRCh37]
Chr2:200510241..210604893 [NCBI36]
Chr2:2q33.1-34
pathogenic
GRCh37/hg19 2q33.1(chr2:200250898-201845999)x3 copy number gain Premature ovarian failure [RCV000225154] Chr2:200250898..201845999 [GRCh37]
Chr2:2q33.1
uncertain significance
GRCh37/hg19 2q33.1(chr2:200776457-203070949)x3 copy number gain See cases [RCV000240410] Chr2:200776457..203070949 [GRCh37]
Chr2:2q33.1
uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2q32.3-33.1(chr2:194581315-201752422)x1 copy number loss See cases [RCV000446984] Chr2:194581315..201752422 [GRCh37]
Chr2:2q32.3-33.1
pathogenic
GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)x3 copy number gain See cases [RCV000448271] Chr2:169829974..215521436 [GRCh37]
Chr2:2q31.1-35
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2q33.1(chr2:201504289-201633941)x3 copy number gain not provided [RCV000682011] Chr2:201504289..201633941 [GRCh37]
Chr2:2q33.1
uncertain significance
GRCh37/hg19 2q32.3-33.1(chr2:193537927-202027736)x1 copy number loss not provided [RCV000682162] Chr2:193537927..202027736 [GRCh37]
Chr2:2q32.3-33.1
pathogenic
GRCh37/hg19 2q32.2-33.1(chr2:191750202-202297376)x1 copy number loss not provided [RCV000682165] Chr2:191750202..202297376 [GRCh37]
Chr2:2q32.2-33.1
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_001159.4(AOX1):c.2010T>C (p.Cys670=) single nucleotide variant not provided [RCV000916839] Chr2:200623869 [GRCh38]
Chr2:201488592 [GRCh37]
Chr2:2q33.1
likely benign
Single allele duplication Neurodevelopmental disorder [RCV000787403] Chr2:188926928..225298653 [GRCh37]
Chr2:2q32.1-36.2
pathogenic
NM_001159.4(AOX1):c.1793T>A (p.Ile598Asn) single nucleotide variant not provided [RCV000948612] Chr2:200620738 [GRCh38]
Chr2:201485461 [GRCh37]
Chr2:2q33.1
benign
NM_001159.4(AOX1):c.3735C>T (p.Pro1245=) single nucleotide variant not provided [RCV000973314] Chr2:200668740 [GRCh38]
Chr2:201533463 [GRCh37]
Chr2:2q33.1
benign
NM_001159.4(AOX1):c.907+3G>A single nucleotide variant not provided [RCV000946660] Chr2:200605631 [GRCh38]
Chr2:201470354 [GRCh37]
Chr2:2q33.1
benign
NM_001159.4(AOX1):c.941A>G (p.Gln314Arg) single nucleotide variant not provided [RCV000946661] Chr2:200609017 [GRCh38]
Chr2:201473740 [GRCh37]
Chr2:2q33.1
benign
NM_001159.4(AOX1):c.717G>A (p.Glu239=) single nucleotide variant not provided [RCV000917584] Chr2:200604743 [GRCh38]
Chr2:201469466 [GRCh37]
Chr2:2q33.1
likely benign
GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3 copy number gain not provided [RCV001005349] Chr2:163233162..211927188 [GRCh37]
Chr2:2q24.2-34
pathogenic
NM_001159.4(AOX1):c.3120C>T (p.Val1040=) single nucleotide variant not provided [RCV000952830] Chr2:200656886 [GRCh38]
Chr2:201521609 [GRCh37]
Chr2:2q33.1
benign
NM_001159.4(AOX1):c.1657T>C (p.Leu553=) single nucleotide variant not provided [RCV000901115] Chr2:200616016 [GRCh38]
Chr2:201480739 [GRCh37]
Chr2:2q33.1
benign
NM_001159.4(AOX1):c.2211A>G (p.Gln737=) single nucleotide variant not provided [RCV000974940] Chr2:200627439 [GRCh38]
Chr2:201492162 [GRCh37]
Chr2:2q33.1
benign
NM_001159.4(AOX1):c.3792A>G (p.Ser1264=) single nucleotide variant not provided [RCV000973315] Chr2:200668797 [GRCh38]
Chr2:201533520 [GRCh37]
Chr2:2q33.1
benign
NM_001159.4(AOX1):c.390G>A (p.Arg130=) single nucleotide variant not provided [RCV000890958] Chr2:200599700 [GRCh38]
Chr2:201464423 [GRCh37]
Chr2:2q33.1
benign
NM_001159.4(AOX1):c.1449G>A (p.Arg483=) single nucleotide variant not provided [RCV000912945] Chr2:200613804 [GRCh38]
Chr2:201478527 [GRCh37]
Chr2:2q33.1
likely benign
NM_001159.4(AOX1):c.3248C>G (p.Ala1083Gly) single nucleotide variant not provided [RCV000956027] Chr2:200659241 [GRCh38]
Chr2:201523964 [GRCh37]
Chr2:2q33.1
benign
Single allele deletion Pulmonary arterial hypertension [RCV001004033] Chr2:201106432..204901548 [GRCh37]
Chr2:2q33.1-33.3
pathogenic
GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3 copy number gain See cases [RCV001263052] Chr2:178397959..243007457 [GRCh37]
Chr2:2q31.2-37.3
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:553 AgrOrtholog
COSMIC AOX1 COSMIC
Ensembl Genes ENSG00000138356 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000260930 UniProtKB/TrEMBL
  ENSP00000363832 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000392485 UniProtKB/TrEMBL
  ENSP00000413326 UniProtKB/TrEMBL
Ensembl Transcript ENST00000260930 UniProtKB/TrEMBL
  ENST00000374700 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000439380 UniProtKB/TrEMBL
  ENST00000454629 UniProtKB/TrEMBL
GTEx ENSG00000138356 GTEx
HGNC ID HGNC:553 ENTREZGENE
Human Proteome Map AOX1 Human Proteome Map
InterPro 2Fe-2S-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2Fe-2S-bd_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2Fe-2S_ferredoxin-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2Fe-2S_ferredoxin-type UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2Fe2S_fd_BS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ald_Oxase/Xan_DH_a/b UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ald_Oxase/Xan_DH_a/b_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ald_Oxase/xanthine_DH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Aldehyde_oxidase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AldOxase/xan_DH_Mopterin-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AldOxase/xan_DH_Mopterin-bd_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CO_DH_flav_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CO_DH_flav_C_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FAD-bd_PCMH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FAD-bd_PCMH-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Mopterin_DH_FAD-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  OxRdtase_Mopterin_BS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:316 UniProtKB/Swiss-Prot
NCBI Gene 316 ENTREZGENE
OMIM 602841 OMIM
Pfam Ald_Xan_dh_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ald_Xan_dh_C2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CO_deh_flav_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FAD_binding_5 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Fer2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Fer2_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB AOX1 RGD, PharmGKB
PIRSF Xanthine_DH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE 2FE2S_FER_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2FE2S_FER_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FAD_PCMH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MOLYBDOPTERIN_EUK UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART Ald_Xan_dh_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CO_deh_flav_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF47741 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF54292 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF54665 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF55447 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF56003 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF56176 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
TIGRFAMs mam_aldehyde_ox UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A286LWX1_HUMAN UniProtKB/TrEMBL
  AOXA_HUMAN UniProtKB/Swiss-Prot
  C9J244_HUMAN UniProtKB/TrEMBL
  H7BXF7_HUMAN UniProtKB/TrEMBL
  H7C3Q1_HUMAN UniProtKB/TrEMBL
  Q06278 ENTREZGENE
UniProt Secondary O14765 UniProtKB/Swiss-Prot
  Q53RR8 UniProtKB/Swiss-Prot
  Q53TV3 UniProtKB/Swiss-Prot
  Q9BYF0 UniProtKB/Swiss-Prot
  Q9UPG6 UniProtKB/Swiss-Prot