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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
  • 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 [Copper-Containing] 3
  • 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 Phlyctenulosis and Parkinson Disease 4. Among its related pathways are Metabolism and Immune System. GO annotations related to this gene include calcium ion binding and receptor activity. An important paralog of this gene is AOC2.

UniProtKB/Swiss-Prot 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.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AOC1 Gene

Genomics for AOC1 Gene

Regulatory Elements for AOC1 Gene

Enhancers for AOC1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07F150845 1.1 Ensembl 34.3 +21.1 21074 1.0 REST AOC1 TMEM176A TMEM176B LOC105375567
GH07F150822 0.8 FANTOM5 ENCODE 27.3 -1.0 -1029 1.3 LEF1 ATF1 PKNOX1 HIC1 ZNF316 GATA2 PRDM10 ZSCAN29 KLF8 CREM AOC1 TMEM176B REPIN1
GH07F150826 0.2 ENCODE 27.3 +1.7 1708 1.5 BCOR ATF3 HNF4G ZMYM3 ZBTB33 RAD21 MAFK NR2F2 YY1 AOC1 TMEM176B TMEM176A LOC105375567
GH07F150830 0.4 ENCODE 21.3 +6.5 6529 1.0 KLF1 AOC1 TMEM176B TMEM176A LOC105375567
GH07F150783 1.2 FANTOM5 Ensembl ENCODE 18.3 -37.4 -37387 7.0 PKNOX1 ATF1 ARNT YY1 ELK1 GATA2 NCOA1 REST ZNF518A SMARCA4 TMEM176A TMEM176B AOC1 ZNF862 GIMAP1 GIMAP2 AGAP3 GIMAP8 SMARCD3 SLC4A2
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around AOC1 on UCSC Golden Path with GeneCards custom track

Genomic Location for AOC1 Gene

Chromosome:
7
Start:
150,824,627 bp from pter
End:
150,861,504 bp from pter
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=Ca(2+); Xref=ChEBI:CHEBI:29108;
    Cofactor:
    Name=Cu cation; Xref=ChEBI:CHEBI:23378;
    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; Positions=266, 284, 328, 494, 497, 514, 707, 729; 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 Asn 110, Asn 168, Thr 276, Asn 538, and Asn 745
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for AOC1 Gene

Domains & Families for AOC1 Gene

Suggested Antigen Peptide Sequences for AOC1 Gene

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

No data available for Gene Families for AOC1 Gene

Function for AOC1 Gene

Molecular function for AOC1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Histamine + H(2)O + O(2) = (imidazol-4-yl)acetaldehyde + NH(3) + H(2)O(2).
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by isoniazid, cimetidine, clonidine, pentamidine, berenil and pentamidine.
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.

Enzyme Numbers (IUBMB) for AOC1 Gene

Gene Ontology (GO) - Molecular Function for AOC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004872 receptor activity IDA 2217167
GO:0005507 copper ion binding IEA,IDA 12072962
GO:0005509 calcium ion binding IDA 12072962
GO:0008131 primary amine oxidase activity IEA,IDA 8144586
GO:0008144 drug binding IDA 2217167
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 tm1b(EUCOMM)Hmgu

Animal Model Products

  • Taconic Biosciences Mouse Models for AOC1

Inhibitory RNA Products

Flow Cytometry 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.

Gene Ontology (GO) - Cellular Components for AOC1 Gene

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

No data available for Subcellular locations from COMPARTMENTS 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

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 IEA --
GO:0035874 cellular response to copper ion starvation IDA 9399025
GO:0042493 response to drug IDA 8144586
GO:0046677 response to antibiotic IDA 7626074
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

(36) 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 51
Copper Approved Pharma 172
Histamine Approved Pharma Full agonist, Agonist 1034
Oxygen Approved, Vet_approved Pharma 0
spermine Approved Nutra Full agonist, Agonist 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
1,3-diaminopropane
  • 1,3-Diamino-N-propane
  • 1,3-Propanediamine
  • 1,3-Propylenediamine
  • 1,3-Trimethylenediamine
  • 3-Aminopropylamine
109-76-2
2-Oxoarginine
  • 2-Oxo-5-guanidinovaleric acid
  • 5-(Diaminomethylideneamino)-2-oxopentanoate
  • 5-(Diaminomethylideneamino)-2-oxopentanoic acid
  • 5-Guanidino-2-oxovaleric acid
  • a-Keto-D-Guanidinovaleric acid
3715-10-4
3,4-Dihydroxyphenylacetaldehyde
  • 3,4-Dihydroxy-Benzeneacetaldehyde
  • Protocatechuatealdehyde
5707-55-1
3-Aminopropionaldehyde
  • 3-Aminopropanal
  • 3-Aminopropionaldehyde
  • beta-Aminopropion aldehyde
352-92-1
4-Aminobutyraldehyde
  • 4-Amino-butanal
  • 4-Amino-butyraldehyde
  • 4-Aminobutanal
  • 4-Aminobutyraldehyde
  • 4-Ammoniobutanal
4390-05-0
genes like me logo Genes that share compounds with AOC1: view

Transcripts for AOC1 Gene

Inhibitory RNA Products

Flow Cytometry 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
ECgene alternative splicing isoforms for
AOC1

Expression for AOC1 Gene

mRNA expression in normal human tissues 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, PaxDb, and MOPED for AOC1 Gene



NURSA nuclear receptor signaling pathways regulating expression of AOC1 Gene:

AOC1

mRNA Expression by UniProt/SwissProt for AOC1 Gene:

P19801-AOC1_HUMAN
Tissue specificity: Placenta and kidney.
genes like me logo Genes that share expression patterns with AOC1: view

Primer Products

No data available for Protein tissue co-expression partners 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 35
  • 99 (a)
OneToOne
ABP1 34
  • 98.89 (n)
dog
(Canis familiaris)
Mammalia AOC1 34 35
  • 83.62 (n)
cow
(Bos Taurus)
Mammalia ABP1 34 35
  • 81.66 (n)
rat
(Rattus norvegicus)
Mammalia Aoc1 34
  • 81.25 (n)
mouse
(Mus musculus)
Mammalia Aoc1 34 16 35
  • 80.8 (n)
Doxl2 35
  • 58 (a)
OneToMany
1600015I10Rik 35
  • 57 (a)
OneToMany
Svs1 35
  • 52 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 73 (a)
OneToMany
-- 35
  • 67 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia AOC1 35
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves ABP1 34
  • 63.01 (n)
AOC1 35
  • 57 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AOC1 35
  • 58 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100486601 34
  • 61.62 (n)
zebrafish
(Danio rerio)
Actinopterygii aoc1 34 35
  • 59.95 (n)
wufd55c04 34
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)

Paralogs for AOC1 Gene

Paralogs for AOC1 Gene

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

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

Variants for AOC1 Gene

Sequence variations from dbSNP and Humsavar for AOC1 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs1005389 -- 150,846,560(+) CCTCT(C/G)TGAAC intron-variant
rs1005390 -- 150,846,633(+) GACAG(G/T)TATAC intron-variant
rs10085465 -- 150,831,373(+) ttttt(C/T)ttctt intron-variant
rs10085672 -- 150,833,074(+) CATGT(A/G)GACCC intron-variant
rs10085873 -- 150,831,064(+) AAAGG(C/T)CACCT intron-variant

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)

Relevant External Links for AOC1 Gene

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

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
phlyctenulosis
  • phlyctenular keratoconjunctivitis
parkinson disease 4
  • parkinson disease 4 autosomal dominant lewy body
radiation proctitis
gastrointestinal allergy
plantar fasciitis
  • fasciitis, plantar
- elite association - COSMIC cancer census association via MalaCards
Search AOC1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for AOC1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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. (J. Biol. Chem. 1994) 2 3 4 22 64
  2. Structure and inhibition of human diamine oxidase. (PMID: 19764817) McGrath A.P. … Guss J.M. (Biochemistry 2009) 3 4 22 64
  3. Diamine oxidase is the amiloride-binding protein and is inhibited by amiloride analogues. (PMID: 8144586) Novotny W.F. … Barbry P. (J. Biol. Chem. 1994) 3 4 22 64
  4. Human kidney amiloride-binding protein: cDNA structure and functional expression. (PMID: 2217167) Barbry P. … Lazdunski M. (Proc. Natl. Acad. Sci. U.S.A. 1990) 3 4 22 64
  5. A new crystal form of human diamine oxidase. (PMID: 20124708) McGrath A.P. … Guss J.M. (Acta Crystallogr. Sect. F Struct. Biol. Cryst. Commun. 2010) 3 22 64

Products for AOC1 Gene

Sources for AOC1 Gene

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