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

Gene ID: 8639, updated on 14-Apr-2024

Summary

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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; AllianceGenome:HGNC:550
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]
Expression
Biased expression in fat (RPKM 252.0), lung (RPKM 69.7) and 8 other tissues See more
Orthologs
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Genomic context

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See AOC3 in Genome Data Viewer
Location:
17q21.31
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (42851199..42858124)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (43708339..43715264)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (41003216..41010141)

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 H3K4me1 hESC enhancer GRCh37_chr17:41029817-41030346 Neighboring gene RNA, U6 small nuclear 287, pseudogene

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
  • 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. Downregulation of VAP-1 in OSCC suppresses tumor growth and metastasis via NF-κB/IL-8 signaling and reduces neutrophil infiltration. Xu Q, et al. J Oral Pathol Med, 2022 Apr. PMID 35174543
  2. SSAO/VAP-1 in Cerebrovascular Disorders: A Potential Therapeutic Target for Stroke and Alzheimer's Disease. Unzeta M, et al. Int J Mol Sci, 2021 Mar 25. PMID 33805974, Free PMC Article
  3. Semicarbazide-Sensitive Amine Oxidase Increases in Calcific Aortic Valve Stenosis and Contributes to Valvular Interstitial Cell Calcification. Mercier N, et al. Oxid Med Cell Longev, 2020. PMID 32411328, Free PMC Article
  4. Amine oxidase 3 is a novel pro-inflammatory marker of oxidative stress in peritoneal endometriosis lesions. Thézénas ML, et al. Sci Rep, 2020 Jan 30. PMID 32001775, Free PMC Article
  5. Assessment of relationship between serum vascular adhesion protein-1 (VAP-1) and gestational diabetes mellitus. Dincgez Cakmak B, et al. Biomarkers, 2019 Dec. PMID 31638437

See all (108) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Crosstalk of cell death pathways unveils an autophagy-related gene AOC3 as a critical prognostic marker in colorectal cancer.
    Title: Crosstalk of cell death pathways unveils an autophagy-related gene AOC3 as a critical prognostic marker in colorectal cancer.
  2. Soluble Vascular Adhesion Protein 1 (sVAP-1) as a biomarker for pregnancy complications: A pilot study.
    Title: Soluble Vascular Adhesion Protein 1 (sVAP-1) as a biomarker for pregnancy complications: A pilot study.
  3. Downregulation of VAP-1 in OSCC suppresses tumor growth and metastasis via NF-kappaB/IL-8 signaling and reduces neutrophil infiltration.
    Title: Downregulation of VAP-1 in OSCC suppresses tumor growth and metastasis via NF-κB/IL-8 signaling and reduces neutrophil infiltration.
  4. NG2/CSPG4, CD146/MCAM and VAP1/AOC3 are regulated by myocardin-related transcription factors in smooth muscle cells.
    Title: NG2/CSPG4, CD146/MCAM and VAP1/AOC3 are regulated by myocardin-related transcription factors in smooth muscle cells.
  5. Comparison of Inhibitor and Substrate Selectivity between Rodent and Human Vascular Adhesion Protein-1.
    Title: Comparison of Inhibitor and Substrate Selectivity between Rodent and Human Vascular Adhesion Protein-1.
  6. SSAO/VAP-1 in Cerebrovascular Disorders: A Potential Therapeutic Target for Stroke and Alzheimer's Disease.
    Title: SSAO/VAP-1 in Cerebrovascular Disorders: A Potential Therapeutic Target for Stroke and Alzheimer's Disease.
  7. Zinc-alpha2-glycoprotein as an inhibitor of amine oxidase copper-containing 3.
    Title: Zinc-α2-glycoprotein as an inhibitor of amine oxidase copper-containing 3.
  8. Semicarbazide-Sensitive Amine Oxidase Increases in Calcific Aortic Valve Stenosis and Contributes to Valvular Interstitial Cell Calcification.
    Title: Semicarbazide-Sensitive Amine Oxidase Increases in Calcific Aortic Valve Stenosis and Contributes to Valvular Interstitial Cell Calcification.
  9. Amine oxidase 3 is a novel pro-inflammatory marker of oxidative stress in peritoneal endometriosis lesions.
    Title: Amine oxidase 3 is a novel pro-inflammatory marker of oxidative stress in peritoneal endometriosis lesions.
  10. Elevated VAP-1 levels in gestational diabetes correlated with clinical follow-up and inflammatory markers; may suggest the pathogenetic role of VAP-1 in gestational diabetes.
    Title: Assessment of relationship between serum vascular adhesion protein-1 (VAP-1) and gestational diabetes mellitus.
Submit: New GeneRIF Correction See all GeneRIFs (84)

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

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

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables aliphatic amine oxidase activity IEA
Inferred from Electronic Annotation
more info
  
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 identical protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables primary amine oxidase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein heterodimerization activity IPI
Inferred from Physical Interaction
more info
 PubMed 
enables quinone binding IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in amine metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in amine metabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in cell adhesion IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in inflammatory response TAS
Traceable Author Statement
more info
 PubMed 
involved_in negative regulation of primary amine oxidase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in response to antibiotic IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
is_active_in Golgi apparatus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in Golgi apparatus IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cell surface IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in early endosome IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in early endosome IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 PubMed 
located_in membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in microvillus IDA
Inferred from Direct Assay
more info
 PubMed 
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
  

General protein information

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Preferred Names
amine oxidase [copper-containing] 3; 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
XP_024306783.1
XP_047292938.1
XP_047292939.1
XP_054173623.1
XP_054173624.1
XP_054173625.1
XP_054173626.1
XP_054173627.1

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_001277731.2 → NP_001264660.1  amine oxidase [copper-containing] 3 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:318 → 627
    Cu_amine_oxid; Copper amine oxidase, enzyme domain
    pfam02727
    Location:66 → 152
    Cu_amine_oxidN2; Copper amine oxidase, N2 domain
    pfam02728
    Location:169 → 269
    Cu_amine_oxidN3; Copper amine oxidase, N3 domain

  2. NM_001277732.2 → NP_001264661.1  amine oxidase [copper-containing] 3 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)
    BC050549, DA592022
    Consensus CDS
    CCDS62198.1
    UniProtKB/Swiss-Prot
    Q16853
    UniProtKB/TrEMBL
    Q9UEU7
    Related
    ENSP00000477686.1, ENST00000617500.4
    Conserved Domains (1) summary
    cl27386
    Location:7 → 178
    Cu_amine_oxid; Copper amine oxidase, enzyme domain

  3. NM_003734.4 → NP_003725.1  amine oxidase [copper-containing] 3 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
    B2RCI5, K7ESB3, L0L8N9, Q16853, Q45F94
    Related
    ENSP00000312326.1, ENST00000308423.7
    Conserved Domains (3) summary
    pfam01179
    Location:318 → 721
    Cu_amine_oxid; Copper amine oxidase, enzyme domain
    pfam02727
    Location:66 → 152
    Cu_amine_oxidN2; Copper amine oxidase, N2 domain
    pfam02728
    Location:169 → 269
    Cu_amine_oxidN3; Copper amine oxidase, N3 domain

RNA

  1. NR_102422.2 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)
    BC050549, DB250074, U39447

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    42851199..42858124
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011525419.3 → XP_011523721.1  membrane primary amine oxidase isoform X1

    Conserved Domains (3) summary
    pfam01179
    Location:318 → 752
    Cu_amine_oxid; Copper amine oxidase, enzyme domain
    pfam02727
    Location:66 → 152
    Cu_amine_oxidN2; Copper amine oxidase, N2 domain
    pfam02728
    Location:169 → 269
    Cu_amine_oxidN3; Copper amine oxidase, N3 domain

  2. XM_011525420.4 → XP_011523722.1  membrane primary amine oxidase isoform X3

    Conserved Domains (3) summary
    pfam01179
    Location:318 → 658
    Cu_amine_oxid; Copper amine oxidase, enzyme domain
    pfam02727
    Location:66 → 152
    Cu_amine_oxidN2; Copper amine oxidase, N2 domain
    pfam02728
    Location:169 → 269
    Cu_amine_oxidN3; Copper amine oxidase, N3 domain

  3. XM_047436982.1 → XP_047292938.1  membrane primary amine oxidase isoform X2

  4. XM_047436983.1 → XP_047292939.1  membrane primary amine oxidase isoform X4

  5. XM_024451015.2 → XP_024306783.1  membrane primary amine oxidase isoform X5

    Related
    ENSP00000468632.1, ENST00000591562.1
    Conserved Domains (1) summary
    cl27386
    Location:7 → 178
    Cu_amine_oxid; Copper amine oxidase, enzyme domain

RNA

  1. XR_007065520.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    43708339..43715264
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054317648.1 → XP_054173623.1  membrane primary amine oxidase isoform X1

  2. XM_054317650.1 → XP_054173625.1  membrane primary amine oxidase isoform X3

  3. XM_054317649.1 → XP_054173624.1  membrane primary amine oxidase isoform X2

  4. XM_054317651.1 → XP_054173626.1  membrane primary amine oxidase isoform X4

  5. XM_054317652.1 → XP_054173627.1  membrane primary amine oxidase isoform X5

RNA

  1. XR_008484959.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q16853.3 GenPept UniProtKB/Swiss-Prot:Q16853

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