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

    Gene ID: 8639, updated on 10-Dec-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
    mouse all
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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_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (42851199..42858124)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (43708339..43715264)
    RS_2024_09 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. Crystallization of a truncated soluble human semicarbazide-sensitive amine oxidase. Jakobsson E, et al. Acta Crystallogr Sect F Struct Biol Cryst Commun, 2005 Mar 1. PMID 16511016, Free PMC Article
    2. Vascular adhesion protein-1: Role in human pathology and application as a biomarker. Pannecoeck R, et al. Crit Rev Clin Lab Sci, 2015. PMID 26287391
    3. Cross-talk between Aβ and endothelial SSAO/VAP-1 accelerates vascular damage and Aβ aggregation related to CAA-AD. Solé M, et al. Neurobiol Aging, 2015 Feb. PMID 25457560
    4. Change in vascular adhesion protein-1 and metabolic phenotypes after vertical banded gastroplasty for morbid obesity. Li HY, et al. Obes Res, 2005 May. PMID 15919838
    5. Relationship between serum soluble vascular adhesion protein-1 level and gastric cancer prognosis. Kaplan MA, et al. Oncol Res Treat, 2014. PMID 24903765

    See all (111) 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)

    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 
    NOT enables primary methylamine oxidase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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 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 
    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
    Names
    amine oxidase, copper containing 3 (vascular adhesion protein 1)
    copper amine oxidase
    membrane primary 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_2024_08

    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  amine oxidase [copper-containing] 3 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  amine oxidase [copper-containing] 3 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  amine oxidase [copper-containing] 3 isoform X2

    4. XM_047436983.1 → XP_047292939.1  amine oxidase [copper-containing] 3 isoform X4

    5. XM_024451015.2 → XP_024306783.1  amine oxidase [copper-containing] 3 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  amine oxidase [copper-containing] 3 isoform X1

    2. XM_054317650.1 → XP_054173625.1  amine oxidase [copper-containing] 3 isoform X3

    3. XM_054317649.1 → XP_054173624.1  amine oxidase [copper-containing] 3 isoform X2

    4. XM_054317651.1 → XP_054173626.1  amine oxidase [copper-containing] 3 isoform X4

    5. XM_054317652.1 → XP_054173627.1  amine oxidase [copper-containing] 3 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

    Gene LinkOut

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

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