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    PAOX polyamine oxidase [ Homo sapiens (human) ]

    Gene ID: 196743, updated on 2-Nov-2024

    Summary

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    Official Symbol
    PAOXprovided by HGNC
    Official Full Name
    polyamine oxidaseprovided by HGNC
    Primary source
    HGNC:HGNC:20837
    See related
    Ensembl:ENSG00000148832 MIM:615853; AllianceGenome:HGNC:20837
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PAO
    Summary
    Enables polyamine oxidase activity. Involved in polyamine catabolic process; positive regulation of spermidine biosynthetic process; and putrescine biosynthetic process. Predicted to be located in cytosol and peroxisomal matrix. Implicated in lung non-small cell carcinoma. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in testis (RPKM 17.7), spleen (RPKM 4.1) and 20 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PAOX in Genome Data Viewer
    Location:
    10q26.3
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (133379262..133391694)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (134334280..134346667)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (135192766..135205198)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene enoyl-CoA hydratase, short chain 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2977 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4248 Neighboring gene uncharacterized LOC124902563 Neighboring gene microRNA 3944 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:135191859-135192358 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2978 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2979 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:135202015-135202172 Neighboring gene Sharpr-MPRA regulatory region 11835 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2980 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2981 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2982 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:135208387-135209341 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4250 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4251 Neighboring gene mitochondrial ribosome associated GTPase 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:135236507-135237126 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:135237945-135238452 Neighboring gene uncharacterized LOC124902564 Neighboring gene shadow of prion protein

    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 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. Does polyamine oxidase activity influence the oxidative metabolism of children who suffer of diabetes mellitus? Bjelakovic G, et al. Mol Cell Biochem, 2010 Aug. PMID 20405312
    2. Integrative analysis of copy number and gene expression data suggests novel pathogenetic mechanisms in primary myelofibrosis. Salati S, et al. Int J Cancer, 2016 Apr 1. PMID 26547506
    3. Guide molecule-driven stereospecific degradation of alpha-methylpolyamines by polyamine oxidase. Järvinen A, et al. J Biol Chem, 2006 Feb 24. PMID 16354669
    4. Polyamine Oxidase Expression Is Downregulated by 17β-Estradiol via Estrogen Receptor 2 in Human MCF-7 Breast Cancer Cells. Kim JH, et al. Int J Mol Sci, 2022 Jul 7. PMID 35886868, Free PMC Article
    5. Spermine oxidase SMO(PAOh1), Not N1-acetylpolyamine oxidase PAO, is the primary source of cytotoxic H2O2 in polyamine analogue-treated human breast cancer cell lines. Pledgie A, et al. J Biol Chem, 2005 Dec 2. PMID 16207710

    See all (17) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Polyamine Oxidase Expression Is Downregulated by 17beta-Estradiol via Estrogen Receptor 2 in Human MCF-7 Breast Cancer Cells.
      Title: Polyamine Oxidase Expression Is Downregulated by 17β-Estradiol via Estrogen Receptor 2 in Human MCF-7 Breast Cancer Cells.
    2. Gene polymorphisms of SFTPB rs7316, rs9752 and PAOX rs1046175 affect the diagnostic value of plasma Pro-SFTPB and DAS in Chinese Han non-small-cell lung cancer patients.
      Title: Gene polymorphisms of SFTPB rs7316, rs9752 and PAOX rs1046175 affect the diagnostic value of plasma Pro-SFTPB and DAS in Chinese Han non-small-cell lung cancer patients.
    3. copy number gain in the polyamine oxidase (PAOX) gene locus was accompanied by a coordinated transcriptional up-regulation in Primary myelofibrosis patients
      Title: Integrative analysis of copy number and gene expression data suggests novel pathogenetic mechanisms in primary myelofibrosis.
    4. PAO activity in children with type 1 diabetes mellitus was very high; higher blood HbA(1C) and MDA levels confirm the presence of oxidant stress demonstrate that PAO activity may participate in these circumstances
      Title: Does polyamine oxidase activity influence the oxidative metabolism of children who suffer of diabetes mellitus?
    5. polyamine oxidase degrades alpha-methylpolyamines in a stereospecific manner
      Title: Guide molecule-driven stereospecific degradation of alpha-methylpolyamines by polyamine oxidase.
    6. SSAT and SMO(PAOh1) activities are the major mediators of the cellular response of breast tumor cells to polyamines while PAO plays little or no role in this response
      Title: Spermine oxidase SMO(PAOh1), Not N1-acetylpolyamine oxidase PAO, is the primary source of cytotoxic H2O2 in polyamine analogue-treated human breast cancer cell lines.
    Submit: New GeneRIF Correction

    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

    EBI GWAS Catalog

    Description
    An atlas of genetic influences on human blood metabolites.
    EBI GWAS Catalog

    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

    Potential readthrough

    Included gene: MTG1

    Homology

    Clone Names

    • MGC45464, DKFZp434J245

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables N(1)-acetylpolyamine oxidase (3-acetamidopropanal-forming) activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables polyamine oxidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables polyamine oxidase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables spermine oxidase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in polyamine catabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of spermidine biosynthetic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in putrescine biosynthetic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in putrescine catabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in spermidine catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in spermidine catabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in spermine catabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in peroxisomal matrix TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    peroxisomal N(1)-acetyl-spermine/spermidine oxidase
    Names
    peroxisomal N1-acetyl-spermine/spermidine oxidase
    polyamine oxidase (exo-N4-amino)
    NP_690875.1
    NP_997010.1
    NP_997011.1

    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_152911.4 → NP_690875.1  peroxisomal N(1)-acetyl-spermine/spermidine oxidase isoform 1

      See identical proteins and their annotated locations for NP_690875.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AF312698, BE646315
      Consensus CDS
      CCDS7683.1
      UniProtKB/Swiss-Prot
      D3DXI6, Q5VWY0, Q6QHF5, Q6QHF6, Q6QHF7, Q6QHF8, Q6QHF9, Q6QHG0, Q6QHG1, Q6QHG2, Q6QHG3, Q6QHG4, Q6QHG5, Q6QHG6, Q86WP9, Q8N555, Q8NCX3
      Related
      ENSP00000278060.5, ENST00000278060.10
      Conserved Domains (1) summary
      PLN02568
      Location:14 → 497
      PLN02568; polyamine oxidase

    2. NM_207127.3 → NP_997010.1  peroxisomal N(1)-acetyl-spermine/spermidine oxidase isoform 2

      See identical proteins and their annotated locations for NP_997010.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks two exons in the 3' coding region, resulting in a frameshift and an early stop codon, compared to variant 1. It encodes isoform 2, which is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AA280165, AF312698, AY541514, AY541519
      Consensus CDS
      CCDS7684.1
      UniProtKB/Swiss-Prot
      Q6QHF9
      Related
      ENSP00000435514.1, ENST00000480071.2
      Conserved Domains (2) summary
      PLN02568
      Location:14 → 297
      PLN02568; polyamine oxidase
      pfam13450
      Location:43 → 87
      NAD_binding_8; NAD(P)-binding Rossmann-like domain

    3. NM_207128.3 → NP_997011.1  peroxisomal N(1)-acetyl-spermine/spermidine oxidase isoform 4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) lacks an alternate exon in the 3' coding region, resulting in a frameshift, compared to variant 1. It encodes isoform 4, which is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AF312698, BE646315
      Consensus CDS
      CCDS7682.1
      UniProtKB/Swiss-Prot
      Q6QHF9
      Related
      ENSP00000349847.3, ENST00000357296.7
      Conserved Domains (2) summary
      PLN02568
      Location:14 → 400
      PLN02568; polyamine oxidase
      pfam13450
      Location:43 → 87
      NAD_binding_8; NAD(P)-binding Rossmann-like domain

    RNA

    1. NR_109763.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) lacks an alternate exon in the 3' region, 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)
      AA280165, AF312698, AY541513, AY541519

    2. NR_109764.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (7) includes an alternate exon in the 5' coding region compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AA280165, AF312698, AY541518, AY541519
      Related
      ENST00000476834.6

    3. NR_109765.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (8) lacks two alternate internal exons 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)
      AA280165, AF312698, AY541517
      Related
      ENST00000483211.6

    4. NR_109766.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (9) lacks three internal exons, 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)
      AA280165, AF312698, AY541514, AY541519
      Related
      ENST00000529585.5

    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_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      133379262..133391694
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      134334280..134346667
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_207125.1: Suppressed sequence

      Description
      NM_207125.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.

    2. NM_207126.1: Suppressed sequence

      Description
      NM_207126.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.

    3. NM_207129.1: Suppressed sequence

      Description
      NM_207129.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6QHF9.4 GenPept UniProtKB/Swiss-Prot:Q6QHF9

    Gene LinkOut

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

    Other Literature Sources
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