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AOC1 amine oxidase copper containing 1 [ Homo sapiens (human) ]

Gene ID: 26, updated on 14-Nov-2024

Summary

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Official Symbol
AOC1provided by HGNC
Official Full Name
amine oxidase copper containing 1provided by HGNC
Primary source
HGNC:HGNC:80
See related
Ensembl:ENSG00000002726 MIM:104610; AllianceGenome:HGNC:80
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ABP; DAO; KAO; ABP1; DAO1; KDAO
Summary
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]
Expression
Biased expression in placenta (RPKM 229.3), kidney (RPKM 118.3) and 3 other tissues See more
Orthologs
all
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Genomic context

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See AOC1 in Genome Data Viewer
Location:
7q36.1
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (150852120..150861504)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (152025287..152034270)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (150549605..150558592)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:150497849-150498548 Neighboring gene transmembrane protein 176B Neighboring gene transmembrane protein 176A Neighboring gene uncharacterized LOC105375567 Neighboring gene uncharacterized LOC124901775 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:150549187-150549758 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:150553923-150554766 Neighboring gene Sharpr-MPRA regulatory region 11983 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:150607062-150607562 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:150642260-150643002 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:150643003-150643744 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:150645973-150646713 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:150651428-150652026 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:150654831-150655332 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:150658991-150659600 Neighboring gene VISTA enhancer hs2192 Neighboring gene potassium voltage-gated channel subfamily H member 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:150669129-150669642 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18785 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18786 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18787 Neighboring gene uncharacterized LOC124901776 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:150672781-150673707 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18788 Neighboring gene NOS3 5' regulatory region Neighboring gene ReSE screen-validated silencer GRCh37_chr7:150697314-150697476 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:150698330-150699529 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:150703744-150704324 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:150704325-150704905 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26844 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:150710378-150711069 Neighboring gene nitric oxide synthase 3 Neighboring gene autophagy related 9B

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Wine and headache. Jarisch R, et al. Int Arch Allergy Immunol, 1996 May. PMID 8645981
  2. Characterisation of functional polymorphisms of the human diamine oxidase gene. Petersen J, et al. Inflamm Res, 2005 Apr. PMID 15928835
  3. Genetic variability of human diamine oxidase: occurrence of three nonsynonymous polymorphisms and study of their effect on serum enzyme activity. Ayuso P, et al. Pharmacogenet Genomics, 2007 Sep. PMID 17700358
  4. Cervical intraepithelial neoplasia is associated with increased polyamine oxidase and diamine oxidase concentrations in cervical mucus. Rogers MS, et al. Gynecol Oncol, 2002 Mar. PMID 11855874
  5. A new crystal form of human diamine oxidase. McGrath AP, et al. Acta Crystallogr Sect F Struct Biol Cryst Commun, 2010 Feb 1. PMID 20124708, Free PMC Article

See all (58) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. METTL14 contributes to the progression of nasopharyngeal carcinoma through regulating the stability of AOC1 mRNA.
    Title: METTL14 contributes to the progression of nasopharyngeal carcinoma through regulating the stability of AOC1 mRNA.
  2. m6A-enriched lncRNA LINC00839 promotes tumor progression by enhancing TAF15-mediated transcription of amine oxidase AOC1 in nasopharyngeal carcinoma.
    Title: m6A-enriched lncRNA LINC00839 promotes tumor progression by enhancing TAF15-mediated transcription of amine oxidase AOC1 in nasopharyngeal carcinoma.
  3. DAO levels were higher in atopic asthma and allergic rhinitis patients compared to controls. DAO had a high sensitivity and negative predictive value. There was a positive correlation between severity of diseases and DAO. DAO may be helpful in the assessment of severity and in ruling out respiratory allergy.
    Title: Diamine oxidase enzyme: a novel biomarker in respiratory allergy.
  4. Plasma diamine oxidase level > 19.7 ng/mL predicts high rate of 6-month readmission in patients with HBV-related decompensated cirrhosis.
    Title: Plasma diamine oxidase level predicts 6-month readmission for patients with hepatitis B virus-related decompensated cirrhosis.
  5. this study shows that single nucleotide polymorphism is associated with the severity of allergic rhinitis in a group of Mexican children
    Title: Association between two polymorphisms of histamine-metabolising enzymes and the severity of allergic rhinitis in a group of Mexican children.
  6. The T allele of rs3787429 exhibited protective effect against CHF under the dominant and additive models , while, for SNPs in HRH2, DAO, and HNMT, no significant associations were observed in the present study
    Title: Associations of Polymorphisms in HRH2, HRH3, DAO, and HNMT Genes with Risk of Chronic Heart Failure.
  7. HRH1-17 TT and HNMT-1639 TT genotypes were associated with the allergic asthma phenotype among African-American children and that the ABP 4107 GG genotype was associated with nonallergic asthma among white children.
    Title: Genetic Variation along the Histamine Pathway in Children with Allergic versus Nonallergic Asthma.
  8. This study findings suggest that DAO genotypes and allelic variants are associated with the risk for migraine in Caucasian Spanish people, especially in women.
    Title: Diamine oxidase rs10156191 and rs2052129 variants are associated with the risk for migraine.
  9. Serum diamine oxidase levels were influenced by the menstrual cycle.
    Title: Effect of the menstrual cycle on serum diamine oxidase levels in healthy women.
  10. Low diamine oxidase activity is associated with gastrointestinal tract toxicities during chemotherapy with oral fluorouracil anti-cancer drugs in patients with gastric cancer.(
    Title: Plasma diamine oxidase activity is a useful biomarker for evaluating gastrointestinal tract toxicities during chemotherapy with oral fluorouracil anti-cancer drugs in patients with gastric cancer.
Submit: New GeneRIF Correction See all GeneRIFs (23)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
An atlas of genetic influences on human blood metabolites.
EBI GWAS Catalog
Discovery and refinement of loci associated with lipid levels.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ97226

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables calcium ion binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables copper ion binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables copper ion binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables diamine oxidase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables diamine oxidase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables heparin binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables histamine oxidase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables primary methylamine oxidase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables primary methylamine oxidase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein homodimerization activity IPI
Inferred from Physical Interaction
more info
 PubMed 
enables putrescine oxidase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables quinone binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in putrescine metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in putrescine metabolic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in bicellular tight junction ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in extracellular exosome HDA PubMed 
located_in extracellular exosome IDA
Inferred from Direct Assay
more info
 PubMed 
located_in extracellular region TAS
Traceable Author Statement
more info
  
is_active_in extracellular space IDA
Inferred from Direct Assay
more info
 PubMed 
located_in extracellular space IDA
Inferred from Direct Assay
more info
 PubMed 
located_in peroxisome NAS
Non-traceable Author Statement
more info
  
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
  
located_in specific granule lumen TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
diamine oxidase [copper-containing]
Names
amiloride binding protein 1 (amine oxidase (copper-containing))
amiloride-binding protein 1
amiloride-sensitive amine oxidase
amine oxidase copper domain-containing protein 1
diamine oxidase
histaminase
kidney amine oxidase
NP_001082.2
NP_001259001.1
XP_016867434.1
XP_016867435.1
XP_016867436.1
XP_047276084.1
XP_054213754.1
XP_054213755.1
XP_054213756.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001091.4 → NP_001082.2  diamine oxidase [copper-containing] isoform 2 precursor

    See identical proteins and their annotated locations for NP_001082.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AC006343, BC014093, U11862
    Consensus CDS
    CCDS43679.1
    UniProtKB/Swiss-Prot
    C9J690, P19801, Q16683, Q16684, Q56II4, Q6GU42
    UniProtKB/TrEMBL
    D3DX01
    Related
    ENSP00000354193.4, ENST00000360937.9
    Conserved Domains (3) summary
    pfam01179
    Location:302 → 712
    Cu_amine_oxid; Copper amine oxidase, enzyme domain
    pfam02727
    Location:39 → 125
    Cu_amine_oxidN2; Copper amine oxidase, N2 domain
    pfam02728
    Location:141 → 241
    Cu_amine_oxidN3; Copper amine oxidase, N3 domain

  2. NM_001272072.2 → NP_001259001.1  diamine oxidase [copper-containing] isoform 1 precursor

    See identical proteins and their annotated locations for NP_001259001.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC006343, BC014093, U11862, U11863
    Consensus CDS
    CCDS64797.1
    UniProtKB/TrEMBL
    D3DX01
    Related
    ENSP00000411613.2, ENST00000416793.6
    Conserved Domains (3) summary
    pfam01179
    Location:302 → 731
    Cu_amine_oxid; Copper amine oxidase, enzyme domain
    pfam02727
    Location:39 → 125
    Cu_amine_oxidN2; Copper amine oxidase, N2 domain
    pfam02728
    Location:141 → 241
    Cu_amine_oxidN3; Copper amine oxidase, N3 domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    150852120..150861504
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017011945.2 → XP_016867434.1  diamine oxidase [copper-containing] isoform X1

    UniProtKB/TrEMBL
    D3DX01
    Conserved Domains (3) summary
    pfam01179
    Location:302 → 731
    Cu_amine_oxid; Copper amine oxidase, enzyme domain
    pfam02727
    Location:39 → 125
    Cu_amine_oxidN2; Copper amine oxidase, N2 domain
    pfam02728
    Location:141 → 241
    Cu_amine_oxidN3; Copper amine oxidase, N3 domain

  2. XM_047420128.1 → XP_047276084.1  diamine oxidase [copper-containing] isoform X2

    UniProtKB/Swiss-Prot
    C9J690, P19801, Q16683, Q16684, Q56II4, Q6GU42
    Related
    ENSP00000418328.1, ENST00000467291.5

  3. XM_017011946.3 → XP_016867435.1  diamine oxidase [copper-containing] isoform X1

    UniProtKB/TrEMBL
    D3DX01
    Conserved Domains (3) summary
    pfam01179
    Location:302 → 731
    Cu_amine_oxid; Copper amine oxidase, enzyme domain
    pfam02727
    Location:39 → 125
    Cu_amine_oxidN2; Copper amine oxidase, N2 domain
    pfam02728
    Location:141 → 241
    Cu_amine_oxidN3; Copper amine oxidase, N3 domain

  4. XM_017011947.2 → XP_016867436.1  diamine oxidase [copper-containing] isoform X2

    UniProtKB/Swiss-Prot
    C9J690, P19801, Q16683, Q16684, Q56II4, Q6GU42
    UniProtKB/TrEMBL
    D3DX01
    Conserved Domains (3) summary
    pfam01179
    Location:302 → 712
    Cu_amine_oxid; Copper amine oxidase, enzyme domain
    pfam02727
    Location:39 → 125
    Cu_amine_oxidN2; Copper amine oxidase, N2 domain
    pfam02728
    Location:141 → 241
    Cu_amine_oxidN3; Copper amine oxidase, N3 domain

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    152025287..152034270
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054357779.1 → XP_054213754.1  diamine oxidase [copper-containing] isoform X3

  2. XM_054357780.1 → XP_054213755.1  diamine oxidase [copper-containing] isoform X1

  3. XM_054357781.1 → XP_054213756.1  diamine oxidase [copper-containing] isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P19801.4 GenPept UniProtKB/Swiss-Prot:P19801

Gene LinkOut

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