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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 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 Arginine and proline metabolism and Histidine metabolism. 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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

Proteomics data for AOC1 Gene at MOPED

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:0005509 calcium ion binding IDA 12072962
GO:0008131 primary amine oxidase activity IEA,IDA 8144586
GO:0032403 protein complex binding IDA 19764817
GO:0052597 diamine oxidase activity IDA 8144586
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

CRISPR 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.

No data available for Subcellular locations from COMPARTMENTS and Gene Ontology (GO) - Cellular Components 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: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 47
spermine Approved Nutra Full agonist, Agonist 0
Dopamine Approved Pharma Full agonist, Agonist 3636
putrescine Experimental Pharma Antagonist, Pore Blocker 0
Diminazene Experimental Pharma Target 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
oxygen
  • Dioxygen
  • Molecular oxygen
  • O2
  • Oxygen
  • Oxygen molecule
7782-44-7
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
genes like me logo Genes that share compounds with AOC1: view

Transcripts for AOC1 Gene

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



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

In Situ Assay 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
cow
(Bos Taurus)
Mammalia ABP1 35
  • 81.66 (n)
  • 78.98 (a)
ABP1 36
  • 77 (a)
OneToOne
dog
(Canis familiaris)
Mammalia AOC1 35
  • 83.62 (n)
  • 81.58 (a)
AOC1 36
  • 79 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Aoc1 35
  • 80.8 (n)
  • 81.02 (a)
Aoc1 16
1600015I10Rik 36
  • 57 (a)
OneToMany
Aoc1 36
  • 79 (a)
OneToMany
Doxl2 36
  • 58 (a)
OneToMany
Svs1 36
  • 52 (a)
OneToMany
chimpanzee
(Pan troglodytes)
Mammalia ABP1 35
  • 98.89 (n)
  • 99.07 (a)
AOC1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Aoc1 35
  • 81.25 (n)
  • 81.97 (a)
oppossum
(Monodelphis domestica)
Mammalia AOC1 36
  • 72 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 73 (a)
OneToMany
-- 36
  • 67 (a)
OneToMany
chicken
(Gallus gallus)
Aves ABP1 35
  • 63.01 (n)
  • 53.94 (a)
AOC1 36
  • 57 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AOC1 36
  • 58 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100486601 35
  • 61.62 (n)
  • 54.98 (a)
zebrafish
(Danio rerio)
Actinopterygii aoc1 35
  • 59.95 (n)
  • 55.89 (a)
wufd55c04 35
aoc1 36
  • 54 (a)
OneToOne
Species with no ortholog for AOC1:
  • 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
VAR_007542 -
VAR_025078 -
VAR_025079 -
VAR_025080 -
VAR_025081 -

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

HapMap Linkage Disequilibrium report
AOC1
Human Gene Mutation Database (HGMD)
AOC1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for AOC1 Gene

Disorders for AOC1 Gene

MalaCards: The human disease database

(10) 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
perinephritis
radiation proctitis
vernal conjunctivitis
  • conjunctivitis vernal
- 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 23 67
  2. 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 23
  3. Analysis of a non-synonymous single nucleotide polymorphism of the human diamine oxidase gene (ref. SNP ID: rs1049793) in patients with Crohn's disease. (PMID: 19670078) LA^pez Palacios N. … DA-az-Rubio M. (Scand. J. Gastroenterol. 2009) 3 23
  4. Soluble intercellular adhesion molecule-1, D-lactate and diamine oxidase in patients with inflammatory bowel disease. (PMID: 19701972) Song W.B. … Ma L. (World J. Gastroenterol. 2009) 3 23
  5. Structure and inhibition of human diamine oxidase. (PMID: 19764817) McGrath A.P. … Guss J.M. (Biochemistry 2009) 3 23

Products for AOC1 Gene

Sources for AOC1 Gene

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