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AOX1 (aldehyde oxidase 1)

Identity

Alias_symbol (synonym)AO
AOH1
Other alias
HGNC (Hugo) AOX1
LocusID (NCBI) 316
Atlas_Id 53623
Location 2q33.1  [Link to chromosome band 2q33]
Location_base_pair Starts at 200586008 and ends at 200671494 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
AOX1 (2q33.1) / ALB (4q13.3)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)AOX1   553
Cards
Entrez_Gene (NCBI)AOX1  316  aldehyde oxidase 1
AliasesAO; AOH1
GeneCards (Weizmann)AOX1
Ensembl hg19 (Hinxton)ENSG00000138356 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000138356 [Gene_View]  chr2:200586008-200671494 [Contig_View]  AOX1 [Vega]
ICGC DataPortalENSG00000138356
TCGA cBioPortalAOX1
AceView (NCBI)AOX1
Genatlas (Paris)AOX1
WikiGenes316
SOURCE (Princeton)AOX1
Genetics Home Reference (NIH)AOX1
Genomic and cartography
GoldenPath hg38 (UCSC)AOX1  -     chr2:200586008-200671494 +  2q33.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)AOX1  -     2q33.1   [Description]    (hg19-Feb_2009)
EnsemblAOX1 - 2q33.1 [CytoView hg19]  AOX1 - 2q33.1 [CytoView hg38]
Mapping of homologs : NCBIAOX1 [Mapview hg19]  AOX1 [Mapview hg38]
OMIM602841   
Gene and transcription
Genbank (Entrez)AB046692 AK297930 AK301052 AK307738 AL079797
RefSeq transcript (Entrez)NM_001159
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)AOX1
Cluster EST : UnigeneHs.406238 [ NCBI ]
CGAP (NCI)Hs.406238
Alternative Splicing GalleryENSG00000138356
Gene ExpressionAOX1 [ NCBI-GEO ]   AOX1 [ EBI - ARRAY_EXPRESS ]   AOX1 [ SEEK ]   AOX1 [ MEM ]
Gene Expression Viewer (FireBrowse)AOX1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)316
GTEX Portal (Tissue expression)AOX1
Human Protein AtlasENSG00000138356-AOX1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ06278   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ06278  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ06278
Splice isoforms : SwissVarQ06278
PhosPhoSitePlusQ06278
Domaine pattern : Prosite (Expaxy)2FE2S_FER_1 (PS00197)    2FE2S_FER_2 (PS51085)    FAD_PCMH (PS51387)    MOLYBDOPTERIN_EUK (PS00559)   
Domains : Interpro (EBI)2Fe-2S-bd    2Fe-2S_ferredoxin-type    2Fe2S_fd_BS    Ald_Oxase/Xan_DH_a/b    Ald_Oxase/xanthine_DH    Aldehyde_oxidase    AldOxase/xan_DH_Mopterin-bd    Beta-grasp_dom    CO_DH_flav_C    CO_DH_flavot_FAD-bd_sub2    FAD-bd_2    FAD-bd_2_sub1    Mopterin_DH_FAD-bd    OxRdtase_Mopterin_BS   
Domain families : Pfam (Sanger)Ald_Xan_dh_C (PF01315)    Ald_Xan_dh_C2 (PF02738)    CO_deh_flav_C (PF03450)    FAD_binding_5 (PF00941)    Fer2 (PF00111)    Fer2_2 (PF01799)   
Domain families : Pfam (NCBI)pfam01315    pfam02738    pfam03450    pfam00941    pfam00111    pfam01799   
Domain families : Smart (EMBL)Ald_Xan_dh_C (SM01008)  CO_deh_flav_C (SM01092)  
Conserved Domain (NCBI)AOX1
DMDM Disease mutations316
Blocks (Seattle)AOX1
PDB (SRS)4UHW    4UHX    5EPG   
PDB (PDBSum)4UHW    4UHX    5EPG   
PDB (IMB)4UHW    4UHX    5EPG   
PDB (RSDB)4UHW    4UHX    5EPG   
Structural Biology KnowledgeBase4UHW    4UHX    5EPG   
SCOP (Structural Classification of Proteins)4UHW    4UHX    5EPG   
CATH (Classification of proteins structures)4UHW    4UHX    5EPG   
SuperfamilyQ06278
Human Protein Atlas [tissue]ENSG00000138356-AOX1 [tissue]
Peptide AtlasQ06278
HPRD07537
IPIIPI00029715   IPI00914866   IPI00917071   IPI00917477   
Protein Interaction databases
DIP (DOE-UCLA)Q06278
IntAct (EBI)Q06278
FunCoupENSG00000138356
BioGRIDAOX1
STRING (EMBL)AOX1
ZODIACAOX1
Ontologies - Pathways
QuickGOQ06278
Ontology : AmiGOaldehyde oxidase activity  xanthine dehydrogenase activity  iron ion binding  cytosol  cytosol  cytosol  inflammatory response  electron carrier activity  xanthine catabolic process  nuclear body  oxidoreductase activity, acting on CH-OH group of donors  oxidoreductase activity, acting on the aldehyde or oxo group of donors  vitamin B6 metabolic process  molybdopterin cofactor binding  flavin adenine dinucleotide binding  NAD binding  2 iron, 2 sulfur cluster binding  oxidation-reduction process  extracellular exosome  reactive oxygen species metabolic process  
Ontology : EGO-EBIaldehyde oxidase activity  xanthine dehydrogenase activity  iron ion binding  cytosol  cytosol  cytosol  inflammatory response  electron carrier activity  xanthine catabolic process  nuclear body  oxidoreductase activity, acting on CH-OH group of donors  oxidoreductase activity, acting on the aldehyde or oxo group of donors  vitamin B6 metabolic process  molybdopterin cofactor binding  flavin adenine dinucleotide binding  NAD binding  2 iron, 2 sulfur cluster binding  oxidation-reduction process  extracellular exosome  reactive oxygen species metabolic process  
Pathways : KEGG   
NDEx NetworkAOX1
Atlas of Cancer Signalling NetworkAOX1
Wikipedia pathwaysAOX1
Orthology - Evolution
OrthoDB316
GeneTree (enSembl)ENSG00000138356
Phylogenetic Trees/Animal Genes : TreeFamAOX1
HOVERGENQ06278
HOGENOMQ06278
Homologs : HomoloGeneAOX1
Homology/Alignments : Family Browser (UCSC)AOX1
Gene fusions - Rearrangements
Tumor Fusion PortalAOX1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerAOX1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)AOX1
dbVarAOX1
ClinVarAOX1
1000_GenomesAOX1 
Exome Variant ServerAOX1
ExAC (Exome Aggregation Consortium)ENSG00000138356
GNOMAD BrowserENSG00000138356
Genetic variants : HAPMAP316
Genomic Variants (DGV)AOX1 [DGVbeta]
DECIPHERAOX1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisAOX1 
Mutations
ICGC Data PortalAOX1 
TCGA Data PortalAOX1 
Broad Tumor PortalAOX1
OASIS PortalAOX1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICAOX1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDAOX1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch AOX1
DgiDB (Drug Gene Interaction Database)AOX1
DoCM (Curated mutations)AOX1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)AOX1 (select a term)
intoGenAOX1
Cancer3DAOX1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM602841   
Orphanet
DisGeNETAOX1
MedgenAOX1
Genetic Testing Registry AOX1
NextProtQ06278 [Medical]
TSGene316
GENETestsAOX1
Target ValidationAOX1
Huge Navigator AOX1 [HugePedia]
snp3D : Map Gene to Disease316
BioCentury BCIQAOX1
ClinGenAOX1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD316
Chemical/Pharm GKB GenePA24842
Clinical trialAOX1
Miscellaneous
canSAR (ICR)AOX1 (select the gene name)
Probes
Litterature
PubMed29 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineAOX1
EVEXAOX1
GoPubMedAOX1
iHOPAOX1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Nov 21 14:03:11 CET 2017

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