This gene encodes a metal-binding membrane glycoprotein that oxidatively deaminates putrescine, histamine, and related compounds. The encoded protein is inhibited by amiloride, a diuretic that acts by closing epithelial sodium ion channels. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2013] See more...

Aliases for AOC1 Gene

Aliases for AOC1 Gene

  • Amine Oxidase Copper Containing 1 2 3 5
  • Diamine Oxidase 2 3 4
  • Amiloride Binding Protein 1 (Amine Oxidase (Copper-Containing)) 2 3
  • Amiloride-Sensitive Amine Oxidase [Copper-Containing] 3 4
  • Amine Oxidase Copper Domain-Containing Protein 1 3 4
  • Amiloride-Binding Protein 1 3 4
  • Kidney Amine Oxidase 3 4
  • Histaminase 3 4
  • ABP1 3 4
  • DAO1 3 4
  • DAO 3 4
  • KAO 3 4
  • Amiloride-Sensitive Amine Oxidase 3
  • EC 1.4.3.22 4
  • ABP 3

External Ids for AOC1 Gene

Previous HGNC Symbols for AOC1 Gene

  • ABP1

Previous GeneCards Identifiers for AOC1 Gene

  • GC07P150523

Summaries for AOC1 Gene

Entrez Gene Summary for AOC1 Gene

  • This gene encodes a metal-binding membrane glycoprotein that oxidatively deaminates putrescine, histamine, and related compounds. The encoded protein is inhibited by amiloride, a diuretic that acts by closing epithelial sodium ion channels. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2013]

GeneCards Summary for AOC1 Gene

AOC1 (Amine Oxidase Copper Containing 1) is a Protein Coding gene. Diseases associated with AOC1 include Trimethoprim Allergy and Food Allergy. Among its related pathways are Innate Immune System and Cytochrome P450 - arranged by substrate type. Gene Ontology (GO) annotations related to this gene include calcium ion binding. An important paralog of this gene is AOC2.

UniProtKB/Swiss-Prot Summary for AOC1 Gene

  • Catalyzes the degradation of compounds such as putrescine, histamine, spermine, and spermidine, substances involved in allergic and immune responses, cell proliferation, tissue differentiation, tumor formation, and possibly apoptosis. Placental DAO is thought to play a role in the regulation of the female reproductive function.

Additional gene information for AOC1 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for AOC1 Gene

Genomics for AOC1 Gene

GeneHancer (GH) Regulatory Elements for AOC1 Gene

Promoters and enhancers for AOC1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07J150822 Enhancer 1.2 FANTOM5 Ensembl ENCODE 527.2 -1.0 -1029 1.3 AFF1 TRIM28 REST RUNX1 ZNF316 KLF8 FOSL1 SKIL ZNF395 IKZF3 AOC1 NUB1 TMEM176B REPIN1 piR-55194-377 LOC105375567
GH07J150852 Promoter/Enhancer 1 EPDnew Ensembl ENCODE 512.1 +28.1 28137 1.3 SPI1 EZH2 AOC1 lnc-AOC1-1 LOC105375567
GH07J150826 Enhancer 0.8 Ensembl ENCODE 527.2 +1.7 1705 1.5 RBM25 FOXA2 NR2F2 ZBTB33 JUND BCOR RAD21 RXRA MAX HNF4A AOC1 TMEM176B TMEM176A lnc-AOC1-1 LOC105375567
GH07J150825 Enhancer 0.2 FANTOM5 500.7 +0.8 793 0.1 AOC1 lnc-AOC1-1 LOC105375567
GH07J150968 Promoter/Enhancer 1.7 VISTA Ensembl ENCODE CraniofacialAtlas dbSUPER 16.3 +146.2 146199 4.7 USF1 ZIC2 RFX1 CTBP1 MYC MXI1 BMI1 TRIM24 MAX POLR2G ENSG00000244151 AOC1 NUB1 ATG9B ABCB8 ENSG00000243433 SLC4A2 TMUB1 AGAP3 FASTK
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around AOC1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for AOC1

Genomic Locations for AOC1 Gene

Genomic Locations for AOC1 Gene
chr7:150,824,627-150,861,504
(GRCh38/hg38)
Size:
36,878 bases
Orientation:
Plus strand
chr7:150,521,715-150,558,592
(GRCh37/hg19)
Size:
36,878 bases
Orientation:
Plus strand

Genomic View for AOC1 Gene

Genes around AOC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AOC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AOC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AOC1 Gene

Proteins for AOC1 Gene

  • Protein details for AOC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P19801-AOC1_HUMAN
    Recommended name:
    Amiloride-sensitive amine oxidase [copper-containing]
    Protein Accession:
    P19801
    Secondary Accessions:
    • C9J690
    • Q16683
    • Q16684
    • Q56II4
    • Q6GU42

    Protein attributes for AOC1 Gene

    Size:
    751 amino acids
    Molecular mass:
    85378 Da
    Cofactor:
    Name=Cu cation; Xref=ChEBI:CHEBI:23378;
    Cofactor:
    Name=Ca(2+); Xref=ChEBI:CHEBI:29108;
    Cofactor:
    Name=L-topaquinone; Xref=ChEBI:CHEBI:79027;
    Quaternary structure:
    • Homodimer; disulfide-linked.
    Miscellaneous:
    • Inhibited by amiloride in a competitive manner.
    SequenceCaution:
    • Sequence=AAA58358.1; Type=Frameshift; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for AOC1 Gene

    Alternative splice isoforms for AOC1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AOC1 Gene

Post-translational modifications for AOC1 Gene

  • Topaquinone (TPQ) is generated by copper-dependent autoxidation of a specific tyrosyl residue.
  • Glycosylation at Asn110, Asn168, Thr276, Asn538, and Asn745
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for AOC1 Gene

Domains & Families for AOC1 Gene

Gene Families for AOC1 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted secreted proteins

Protein Domains for AOC1 Gene

Suggested Antigen Peptide Sequences for AOC1 Gene

GenScript: Design optimal peptide antigens:
  • Kidney amine oxidase (ABP1_HUMAN)
  • Amine oxidase (C9J690_HUMAN)
  • Amine oxidase (D3DX01_HUMAN)
  • Amine oxidase (D3DX03_HUMAN)
  • Amine oxidase (E7ER24_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P19801

UniProtKB/Swiss-Prot:

AOC1_HUMAN :
  • Belongs to the copper/topaquinone oxidase family.
Family:
  • Belongs to the copper/topaquinone oxidase family.
genes like me logo Genes that share domains with AOC1: view

Function for AOC1 Gene

Molecular function for AOC1 Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the degradation of compounds such as putrescine, histamine, spermine, and spermidine, substances involved in allergic and immune responses, cell proliferation, tissue differentiation, tumor formation, and possibly apoptosis. Placental DAO is thought to play a role in the regulation of the female reproductive function.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H2O + histamine + O2 = H2O2 + imidazole-4-acetaldehyde + NH4(+); Xref=Rhea:RHEA:25625, ChEBI:CHEBI:15377, ChEBI:CHEBI:15379, ChEBI:CHEBI:16240, ChEBI:CHEBI:27398, ChEBI:CHEBI:28938, ChEBI:CHEBI:58432; EC=1.4.3.22; Evidence=. ;.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by isoniazid, cimetidine, clonidine, pentamidine, berenil and pentamidine.

Enzyme Numbers (IUBMB) for AOC1 Gene

Phenotypes From GWAS Catalog for AOC1 Gene

Gene Ontology (GO) - Molecular Function for AOC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005507 copper ion binding IDA 12072962
GO:0005509 calcium ion binding IDA 12072962
GO:0008131 primary amine oxidase activity IEA,IDA 8144586
GO:0008144 drug binding IDA 2217167
GO:0008201 heparin binding IEA,IDA 12072962
genes like me logo Genes that share ontologies with AOC1: view
genes like me logo Genes that share phenotypes with AOC1: view

Animal Models for AOC1 Gene

MGI Knock Outs for AOC1:
  • Aoc1 Aoc1<tm1b(EUCOMM)Hmgu>

Animal Model Products

  • Taconic Biosciences Mouse Models for AOC1

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AOC1

Clone Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for AOC1 Gene

Localization for AOC1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AOC1 Gene

Secreted, extracellular space.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for AOC1 gene
Compartment Confidence
plasma membrane 5
extracellular 5
peroxisome 5
mitochondrion 2
nucleus 2
cytosol 2
cytoskeleton 1
endoplasmic reticulum 1
lysosome 1

Gene Ontology (GO) - Cellular Components for AOC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IDA,IEA 9399025
GO:0005777 peroxisome NAS 1356107
GO:0005886 plasma membrane TAS,IBA --
GO:0005923 bicellular tight junction ISS --
genes like me logo Genes that share ontologies with AOC1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for AOC1 Gene

Pathways & Interactions for AOC1 Gene

genes like me logo Genes that share pathways with AOC1: view

Pathways by source for AOC1 Gene

2 GeneGo (Thomson Reuters) pathways for AOC1 Gene
  • Beta-alanine metabolism
  • Tyrosine metabolism p.1 (dopamine)

Gene Ontology (GO) - Biological Process for AOC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006805 xenobiotic metabolic process TAS --
GO:0009308 amine metabolic process IBA,IEA 21873635
GO:0035874 cellular response to copper ion starvation IDA 9399025
GO:0042493 response to drug IDA 8144586
GO:0043312 neutrophil degranulation TAS --
genes like me logo Genes that share ontologies with AOC1: view

No data available for SIGNOR curated interactions for AOC1 Gene

Drugs & Compounds for AOC1 Gene

(39) Drugs for AOC1 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Amiloride Approved Pharma Channel blocker, Target, Enzyme, Enzyme, inhibitor 59
Copper Approved, Investigational Pharma Enzyme, cofactor 236
Calcium Approved Nutra Target 7884
Histamine Approved, Investigational Pharma Full agonist, Agonist 1227
Oxygen Approved, Vet_approved Pharma 0

(30) Additional Compounds for AOC1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
1,3-diaminopropane
  • 1,3-Propanediamine
  • 1,3-Propylenediamine
  • Propane-1,3-diamine
  • tn
  • 1,3-diamino-N-Propane
109-76-2
2-Oxoarginine
  • 2-oxo-5-guanidino-Pentanoate
  • 2-oxo-5-Guanidinopentanoate
  • 2-oxo-5-Guanidinovaleric acid
  • 2-Oxoarginine
  • 5-((Aminoiminomethyl)amino)-2-oxopentanoic acid
3715-10-4
3,4-Dihydroxyphenylacetaldehyde
  • 2-(3,4-Dihydroxyphenyl)ethanal
  • DOPAL
  • Protocatechuatealdehyde
  • 3,4-Dihydroxy-benzeneacetaldehyde
  • DHPAA aldehyde
5707-55-1
3-Aminopropionaldehyde
  • beta-Aminopropion aldehyde
  • b-Aminopropion aldehyde
  • β-aminopropion aldehyde
  • 3-Aminopropanal
352-92-1
4-Aminobutyraldehyde
  • 4-amino-Butyraldehyde
  • 4-amino-Butanal
  • 4-Aminobutanal
  • 4-Ammoniobutanal
  • gamma-Aminobutyraldehyde
4390-05-0
genes like me logo Genes that share compounds with AOC1: view

Transcripts for AOC1 Gene

mRNA/cDNA for AOC1 Gene

2 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AOC1

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for AOC1 Gene

No ASD Table

Relevant External Links for AOC1 Gene

GeneLoc Exon Structure for
AOC1

Expression for AOC1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for AOC1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for AOC1 Gene

This gene is overexpressed in Colon - Transverse (x21.6), Small Intestine - Terminal Ileum (x16.0), and Kidney - Cortex (x10.4).

Protein differential expression in normal tissues from HIPED for AOC1 Gene

This gene is overexpressed in Urine (20.9), Placenta (13.7), Stomach (11.5), Kidney (8.0), and Fetal gut (7.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for AOC1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for AOC1

mRNA Expression by UniProt/SwissProt for AOC1 Gene:

P19801-AOC1_HUMAN
Tissue specificity: Placenta and kidney.

Evidence on tissue expression from TISSUES for AOC1 Gene

  • Kidney(4.7)
  • Intestine(4.5)
  • Blood(2.4)
genes like me logo Genes that share expression patterns with AOC1: view

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for AOC1 Gene

Orthologs for AOC1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for AOC1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia AOC1 31
  • 99 (a)
OneToOne
ABP1 30
  • 98.89 (n)
dog
(Canis familiaris)
Mammalia AOC1 31 30
  • 83.62 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ABP1 31 30
  • 81.66 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Aoc1 30
  • 81.25 (n)
mouse
(Mus musculus)
Mammalia Aoc1 17 31 30
  • 80.8 (n)
Doxl2 31
  • 58 (a)
OneToMany
1600015I10Rik 31
  • 57 (a)
OneToMany
Svs1 31
  • 52 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 73 (a)
OneToMany
-- 31
  • 67 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia AOC1 31
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves ABP1 30
  • 63.01 (n)
AOC1 31
  • 57 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AOC1 31
  • 58 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100486601 30
  • 61.62 (n)
zebrafish
(Danio rerio)
Actinopterygii aoc1 31 30
  • 59.95 (n)
OneToOne
wufd55c04 30
Species where no ortholog for AOC1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for AOC1 Gene

ENSEMBL:
Gene Tree for AOC1 (if available)
TreeFam:
Gene Tree for AOC1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for AOC1: view image

Paralogs for AOC1 Gene

Paralogs for AOC1 Gene

(3) SIMAP similar genes for AOC1 Gene using alignment to 4 proteins:

  • AOC1_HUMAN
  • C9J0G8_HUMAN
  • C9J2J4_HUMAN
  • C9J690_HUMAN
genes like me logo Genes that share paralogs with AOC1: view

Variants for AOC1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for AOC1 Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
755777 Likely Benign: not provided 150,857,396(+) G/C MISSENSE_VARIANT
757029 Likely Benign: not provided 150,858,754(+) T/C INTRON_VARIANT
792093 Benign: not provided 150,860,619(+) A/C MISSENSE_VARIANT
rs10156191 - p.Thr16Met
rs1049742 - p.Ser332Phe

Additional dbSNP identifiers (rs#s) for AOC1 Gene

Structural Variations from Database of Genomic Variants (DGV) for AOC1 Gene

Variant ID Type Subtype PubMed ID
dgv11719n54 CNV loss 21841781
dgv1996e212 CNV loss 25503493
dgv3695n106 OTHER inversion 24896259
dgv6754n100 CNV loss 25217958
dgv6755n100 CNV loss 25217958
esv2678009 CNV deletion 23128226
esv2759574 CNV loss 17122850
esv2761383 CNV loss 21179565
esv32879 CNV loss 17666407
esv3615470 CNV loss 21293372
esv3615471 CNV loss 21293372
nsv1030109 CNV gain 25217958
nsv1067934 OTHER inversion 25765185
nsv1151906 OTHER inversion 26484159
nsv608990 CNV gain 21841781
nsv608993 CNV loss 21841781

Variation tolerance for AOC1 Gene

Residual Variation Intolerance Score: 62.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 12.95; 94.93% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for AOC1 Gene

Human Gene Mutation Database (HGMD)
AOC1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
AOC1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AOC1 Gene

Disorders for AOC1 Gene

MalaCards: The human disease database

(12) MalaCards diseases for AOC1 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
trimethoprim allergy
  • primsol allergy
food allergy
  • food hypersensitivity
radiation proctitis
urticaria
short bowel syndrome
  • acquired short bowel syndrome
- elite association - COSMIC cancer census association via MalaCards
Search AOC1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for AOC1

genes like me logo Genes that share disorders with AOC1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for AOC1 Gene

Publications for AOC1 Gene

  1. The human gene for diamine oxidase, an amiloride binding protein. Molecular cloning, sequencing, and characterization of the promoter. (PMID: 8182053) Chassande O … Lazdunski M (The Journal of biological chemistry 1994) 2 3 4 23 54
  2. Structure and inhibition of human diamine oxidase. (PMID: 19764817) McGrath AP … Guss JM (Biochemistry 2009) 3 4 23 54
  3. Diamine oxidase is the amiloride-binding protein and is inhibited by amiloride analogues. (PMID: 8144586) Novotny WF … Barbry P (The Journal of biological chemistry 1994) 3 4 23 54
  4. Human kidney amiloride-binding protein: cDNA structure and functional expression. (PMID: 2217167) Barbry P … Ullrich A (Proceedings of the National Academy of Sciences of the United States of America 1990) 3 4 23 54
  5. A new crystal form of human diamine oxidase. (PMID: 20124708) McGrath AP … Guss JM (Acta crystallographica. Section F, Structural biology and crystallization communications 2010) 3 23 54

Products for AOC1 Gene

Sources for AOC1 Gene