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AOC3 amine oxidase, copper containing 3 [ Homo sapiens (human) ]

Gene ID: 8639, updated on 17-Sep-2017
Official Symbol
AOC3provided by HGNC
Official Full Name
amine oxidase, copper containing 3provided by HGNC
Primary source
HGNC:HGNC:550
See related
Ensembl:ENSG00000131471 MIM:603735; Vega:OTTHUMG00000180656
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
HPAO; SSAO; VAP1; VAP-1
Summary
This gene encodes a member of the semicarbazide-sensitive amine oxidase family. Copper amine oxidases catalyze the oxidative conversion of amines to aldehydes in the presence of copper and quinone cofactor. The encoded protein is localized to the cell surface, has adhesive properties as well as monoamine oxidase activity, and may be involved in leukocyte trafficking. Alterations in levels of the encoded protein may be associated with many diseases, including diabetes mellitus. A pseudogene of this gene has been described and is located approximately 9-kb downstream on the same chromosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2013]
Orthologs
Location:
17q21.31
Exon count:
6
Annotation release Status Assembly Chr Location
108 current GRCh38.p7 (GCF_000001405.33) 17 NC_000017.11 (42851123..42858130)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (41003201..41010147)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene proteasome activator subunit 3 Neighboring gene amine oxidase, copper containing 2 Neighboring gene amine oxidase, copper containing 4, pseudogene Neighboring gene long intergenic non-protein coding RNA 671 Neighboring gene RNA, U6 small nuclear 287, pseudogene

  • 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
aliphatic-amine oxidase activity IEA
Inferred from Electronic Annotation
more info
 
aminoacetone:oxygen oxidoreductase(deaminating) activity IEA
Inferred from Electronic Annotation
more info
 
calcium ion binding IDA
Inferred from Direct Assay
more info
PubMed 
copper ion binding IDA
Inferred from Direct Assay
more info
PubMed 
phenethylamine:oxygen oxidoreductase (deaminating) activity IEA
Inferred from Electronic Annotation
more info
 
primary amine oxidase activity IDA
Inferred from Direct Assay
more info
PubMed 
NOT primary amine oxidase activity IDA
Inferred from Direct Assay
more info
PubMed 
primary amine oxidase activity TAS
Traceable Author Statement
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein heterodimerization activity IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity TAS
Traceable Author Statement
more info
PubMed 
quinone binding IDA
Inferred from Direct Assay
more info
PubMed 
tryptamine:oxygen oxidoreductase (deaminating) activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
amine metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
cell adhesion IDA
Inferred from Direct Assay
more info
PubMed 
inflammatory response TAS
Traceable Author Statement
more info
PubMed 
negative regulation of primary amine oxidase activity IDA
Inferred from Direct Assay
more info
PubMed 
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
response to antibiotic IDA
Inferred from Direct Assay
more info
PubMed 
xenobiotic metabolic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
Golgi apparatus IDA
Inferred from Direct Assay
more info
PubMed 
cell surface IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
early endosome IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
integral component of membrane IDA
Inferred from Direct Assay
more info
PubMed 
microvillus IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
Preferred Names
membrane primary amine oxidase
Names
amine oxidase, copper containing 3 (vascular adhesion protein 1)
copper amine oxidase
placenta copper monamine oxidase
semicarbazide-sensitive amine oxidase
NP_001264660.1
NP_001264661.1
NP_003725.1
XP_011523721.1
XP_011523722.1

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_001277731.1NP_001264660.1  membrane primary amine oxidase isoform 2

    See identical proteins and their annotated locations for NP_001264660.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an exon in the coding region, which results in a frameshift, compared to variant 1. The encoded isoform (2, also known as VAP-1delta3) has a shorter and distinct C-terminus, compared to isoform 1. This isoform may act as a dominant negative regulator of isoform 1 (PMID: 23349812).
    Source sequence(s)
    AF054985, JX020506, U39447
    Consensus CDS
    CCDS74071.1
    UniProtKB/Swiss-Prot
    Q16853
    UniProtKB/TrEMBL
    Q9UEU7
    Related
    ENSP00000484312.1, ENST00000613571.1
    Conserved Domains (3) summary
    pfam01179
    Location:318627
    Cu_amine_oxid; Copper amine oxidase, enzyme domain
    pfam02727
    Location:66152
    Cu_amine_oxidN2; Copper amine oxidase, N2 domain
    pfam02728
    Location:169269
    Cu_amine_oxidN3; Copper amine oxidase, N3 domain
  2. NM_001277732.1NP_001264661.1  membrane primary amine oxidase isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) contains a distinct 5' UTR, lacks a portion of the 5' coding region, and uses a downstream in-frame start codon, compared to variant 1. The encoded isoform (3) has a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AF054985, BC050549, DA592022
    Consensus CDS
    CCDS62198.1
    UniProtKB/Swiss-Prot
    Q16853
    UniProtKB/TrEMBL
    Q9UEU7
    Related
    ENSP00000477686.1, ENST00000617500.4
    Conserved Domains (1) summary
    pfam01179
    Location:1178
    Cu_amine_oxid; Copper amine oxidase, enzyme domain
  3. NM_003734.3NP_003725.1  membrane primary amine oxidase isoform 1

    See identical proteins and their annotated locations for NP_003725.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1, also known as VAP-1).
    Source sequence(s)
    AF054985, U39447
    Consensus CDS
    CCDS11444.1
    UniProtKB/Swiss-Prot
    Q16853
    UniProtKB/TrEMBL
    Q9UEU7
    Related
    ENSP00000312326.1, OTTHUMP00000264909, ENST00000308423.6, OTTHUMT00000452444
    Conserved Domains (3) summary
    pfam01179
    Location:318721
    Cu_amine_oxid; Copper amine oxidase, enzyme domain
    pfam02727
    Location:66152
    Cu_amine_oxidN2; Copper amine oxidase, N2 domain
    pfam02728
    Location:169269
    Cu_amine_oxidN3; Copper amine oxidase, N3 domain

RNA

  1. NR_102422.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) uses an alternate splice site in an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AF054985, BC050549, DB250074, U39447

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

Reference GRCh38.p7 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p7 Primary Assembly

    Range
    42851123..42858130
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011525419.1XP_011523721.1  membrane primary amine oxidase isoform X1

    Conserved Domains (3) summary
    pfam01179
    Location:318752
    Cu_amine_oxid; Copper amine oxidase, enzyme domain
    pfam02727
    Location:66152
    Cu_amine_oxidN2; Copper amine oxidase, N2 domain
    pfam02728
    Location:169269
    Cu_amine_oxidN3; Copper amine oxidase, N3 domain
  2. XM_011525420.2XP_011523722.1  membrane primary amine oxidase isoform X2

    Conserved Domains (3) summary
    pfam01179
    Location:318658
    Cu_amine_oxid; Copper amine oxidase, enzyme domain
    pfam02727
    Location:66152
    Cu_amine_oxidN2; Copper amine oxidase, N2 domain
    pfam02728
    Location:169269
    Cu_amine_oxidN3; Copper amine oxidase, N3 domain

RNA

  1. XR_934584.1 RNA Sequence

  2. XR_001752673.1 RNA Sequence

Alternate CHM1_1.1

Genomic

  1. NC_018928.2 Alternate CHM1_1.1

    Range
    41238814..41245760
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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