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PAOX polyamine oxidase [ Homo sapiens (human) ]

Gene ID: 196743, updated on 11-Apr-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 metabolic process and positive regulation of spermidine biosynthetic process. Predicted to be located in cytosol and peroxisomal matrix. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in testis (RPKM 17.7), spleen (RPKM 4.1) and 20 other tissues See more
Orthologs
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (133379262..133391694)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (134334280..134346667)
105.20220307 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
  • 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. 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
  3. 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
  4. Guide molecule-driven stereospecific degradation of alpha-methylpolyamines by polyamine oxidase. Järvinen A, et al. J Biol Chem, 2006 Feb 24. PMID 16354669
  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),N(12)-diacetylspermine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity IEA
Inferred from Electronic Annotation
more info
  
enables N1-acetylspermidine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity IEA
Inferred from Electronic Annotation
more info
  
enables N1-acetylspermine:oxygen oxidoreductase (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 spermidine:oxygen oxidoreductase (3-aminopropanal-forming) activity IEA
Inferred from Electronic Annotation
more info
  
enables spermine:oxygen oxidoreductase (spermidine-forming) activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
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
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_2023_10

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

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