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

    Gene ID: 26, updated on 2-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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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    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)

    Genotypes

    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 amine 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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    NEW Try the new Transcript table

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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