PAOX polyamine oxidase [Homo sapiens (human)] - Gene

Summary

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

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_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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?
polyamine oxidase degrades alpha-methylpolyamines in a stereospecific manner
Title: Guide molecule-driven stereospecific degradation of alpha-methylpolyamines by polyamine oxidase.
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.

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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 EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D10S1711 (e-PCR)
- UniSTS:36198

D10S16 (e-PCR)
- UniSTS:155756

L17809 (e-PCR)
- UniSTS:39087

G60578 (e-PCR)
- UniSTS:137684

D10S1328E (e-PCR)
- UniSTS:50904

G06262 (e-PCR)
- UniSTS:58353

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

EC 1.5.3.13

NP_997010.1

EC 1.5.3.13

NP_997011.1

EC 1.5.3.13

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)

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
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
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

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
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
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
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

NC_000010.11 Reference GRCh38.p14 Primary Assembly

Range

133379262..133391694

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

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

NM_207125.1: Suppressed sequence

Description

NM_207125.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
NM_207126.1: Suppressed sequence

Description

NM_207126.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
NM_207129.1: Suppressed sequence

Description

NM_207129.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.