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

    Gene ID: 26, updated on 9-Dec-2024

    Summary

    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
    NEW
    Try the new Gene table
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    Genomic context

    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

    Expression

    • Project title: 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

    Related articles in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    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)

    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_001091.4NP_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:302712
      Cu_amine_oxid; Copper amine oxidase, enzyme domain
      pfam02727
      Location:39125
      Cu_amine_oxidN2; Copper amine oxidase, N2 domain
      pfam02728
      Location:141241
      Cu_amine_oxidN3; Copper amine oxidase, N3 domain
    2. NM_001272072.2NP_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:302731
      Cu_amine_oxid; Copper amine oxidase, enzyme domain
      pfam02727
      Location:39125
      Cu_amine_oxidN2; Copper amine oxidase, N2 domain
      pfam02728
      Location:141241
      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_017011945.2XP_016867434.1  diamine oxidase [copper-containing] isoform X1

      UniProtKB/TrEMBL
      D3DX01
      Conserved Domains (3) summary
      pfam01179
      Location:302731
      Cu_amine_oxid; Copper amine oxidase, enzyme domain
      pfam02727
      Location:39125
      Cu_amine_oxidN2; Copper amine oxidase, N2 domain
      pfam02728
      Location:141241
      Cu_amine_oxidN3; Copper amine oxidase, N3 domain
    2. XM_047420128.1XP_047276084.1  diamine oxidase [copper-containing] isoform X2

      UniProtKB/Swiss-Prot
      C9J690, P19801, Q16683, Q16684, Q56II4, Q6GU42
      UniProtKB/TrEMBL
      D3DX01
      Related
      ENSP00000418328.1, ENST00000467291.5
    3. XM_017011946.3XP_016867435.1  diamine oxidase [copper-containing] isoform X1

      UniProtKB/TrEMBL
      D3DX01
      Conserved Domains (3) summary
      pfam01179
      Location:302731
      Cu_amine_oxid; Copper amine oxidase, enzyme domain
      pfam02727
      Location:39125
      Cu_amine_oxidN2; Copper amine oxidase, N2 domain
      pfam02728
      Location:141241
      Cu_amine_oxidN3; Copper amine oxidase, N3 domain
    4. XM_017011947.2XP_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:302712
      Cu_amine_oxid; Copper amine oxidase, enzyme domain
      pfam02727
      Location:39125
      Cu_amine_oxidN2; Copper amine oxidase, N2 domain
      pfam02728
      Location:141241
      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_054357779.1XP_054213754.1  diamine oxidase [copper-containing] isoform X3

      UniProtKB/TrEMBL
      D3DX01
    2. XM_054357780.1XP_054213755.1  diamine oxidase [copper-containing] isoform X1

      UniProtKB/TrEMBL
      D3DX01
    3. XM_054357781.1XP_054213756.1  diamine oxidase [copper-containing] isoform X2

      UniProtKB/TrEMBL
      D3DX01