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

Gene ID: 26, updated on 8-Jul-2021

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
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
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
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Genomic context

See AOC1 in Genome Data Viewer
Location:
7q36.1
Exon count:
10
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (150824875..150861504)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (150549605..150558592)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375566 Neighboring gene transmembrane protein 176B Neighboring gene transmembrane protein 176A Neighboring gene uncharacterized LOC105375567 Neighboring gene Sharpr-MPRA regulatory region 11983 Neighboring gene VISTA enhancer hs2192 Neighboring gene potassium voltage-gated channel subfamily H member 2

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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
An atlas of genetic influences on human blood metabolites.
GeneReviews: Not available
Discovery and refinement of loci associated with lipid levels.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 
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
PubMed 
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 IEA
Inferred from Electronic Annotation
more info
 
enables methylputrescine oxidase activity IEA
Inferred from Electronic Annotation
more info
 
enables primary amine oxidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables primary amine oxidase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables propane-1,3-diamine oxidase activity IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein homodimerization activity IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein-containing complex binding IDA
Inferred from Direct Assay
more info
PubMed 
enables quinone binding IDA
Inferred from Direct Assay
more info
PubMed 
enables zinc ion binding IDA
Inferred from Direct Assay
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
 
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
PubMed 
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
amiloride-sensitive amine 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_016867433.1
XP_016867434.1
XP_016867435.1
XP_016867436.1

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_001091.4NP_001082.2  amiloride-sensitive amine 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
    P19801
    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  amiloride-sensitive amine 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/Swiss-Prot
    P19801
    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: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    150824875..150861504
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017011945.1XP_016867434.1  amiloride-sensitive amine oxidase [copper-containing] isoform X1

    UniProtKB/Swiss-Prot
    P19801
    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_017011944.1XP_016867433.1  amiloride-sensitive amine oxidase [copper-containing] isoform X1

    UniProtKB/Swiss-Prot
    P19801
    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
  3. XM_017011946.2XP_016867435.1  amiloride-sensitive amine oxidase [copper-containing] isoform X1

    UniProtKB/Swiss-Prot
    P19801
    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_017011947.1XP_016867436.1  amiloride-sensitive amine oxidase [copper-containing] isoform X2

    UniProtKB/Swiss-Prot
    P19801
    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
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