SMOX spermine oxidase [Homo sapiens (human)] - Gene

Summary

Official Symbol: SMOXprovided by HGNC
Official Full Name: spermine oxidaseprovided by HGNC
Primary source: HGNC:HGNC:15862
See related: Ensembl:ENSG00000088826 MIM:615854; AllianceGenome:HGNC:15862
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: PAO; SMO; PAO1; PAOH; PAO-1; PAOH1; C20orf16
Summary: Polyamines are ubiquitous polycationic alkylamines which include spermine, spermidine, putrescine, and agmatine. These molecules participate in a broad range of cellular functions which include cell cycle modulation, scavenging reactive oxygen species, and the control of gene expression. These molecules also play important roles in neurotransmission through their regulation of cell-surface receptor activity, involvement in intracellular signalling pathways, and their putative roles as neurotransmitters. This gene encodes an FAD-containing enzyme that catalyzes the oxidation of spermine to spermadine and secondarily produces hydrogen peroxide. Multiple transcript variants encoding different isoenzymes have been identified for this gene, some of which have failed to demonstrate significant oxidase activity on natural polyamine substrates. The characterized isoenzymes have distinctive biochemical characteristics and substrate specificities, suggesting the existence of additional levels of complexity in polyamine catabolism. [provided by RefSeq, Jul 2012]
Expression: Ubiquitous expression in brain (RPKM 15.8), bone marrow (RPKM 10.0) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 20p13

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (4148828..4187727)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (4183413..4222031)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (4129475..4168374)

Chromosome 20 - NC_000020.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Protective Role of Spermidine in Colitis and Colon Carcinogenesis.
Title: Protective Role of Spermidine in Colitis and Colon Carcinogenesis.
Genetic regulation of spermine oxidase activity and cancer risk: a Mendelian randomization study.
Title: Genetic regulation of spermine oxidase activity and cancer risk: a Mendelian randomization study.
SMOX plays a central role in the formation of bile canalicular lumen in liver cells by activating Akt pathway through acrolein production.
Title: Spermine oxidase promotes bile canalicular lumen formation through acrolein production.
Data suggest that intermolecular disulfide bond links spermine oxidase (SMOX) molecules to form the homodimer and plays a critical role in the stabilization of the overall three-dimensional SMOX structure.
Title: Spectroscopic and calorimetric characterization of spermine oxidase and its association forms.
These results indicate a protective role for miR-124 through the inhibition of SMOX-mediated DNA damage in the etiology of H. pylori-associated gastric cancer.
Title: Epigenetic silencing of miR-124 prevents spermine oxidase regulation: implications for Helicobacter pylori-induced gastric cancer.
effect of Tat on Nrf2 activation in human neuroblastoma cells and the role of NMDA receptor and spermine oxidase on Tat-induced nuclear factor erythroid 2-related factor 2 (Nrf2) activation
Title: HIV-Tat Induces the Nrf2/ARE Pathway through NMDA Receptor-Elicited Spermine Oxidase Activation in Human Neuroblastoma Cells.
During H. pylori infection, the enzyme spermine oxidase (SMOX) is induced, which generates hydrogen peroxide from the catabolism of the polyamine spermine, and increases gastric cancer risk.
Title: Increased Helicobacter pylori-associated gastric cancer risk in the Andean region of Colombia is mediated by spermine oxidase.
study postulates a mechanism for SAT1 and SMOX down-regulation by post-transcriptional activity of miRNAs.
Title: Regulatory role of miRNAs in polyamine gene expression in the prefrontal cortex of depressed suicide completers.
Tat was found to induce reactive oxygen species production and to affect cell viability in SH-SY5Y cells, these effects being mediated by spermine oxidase (SMO)
Title: A role for spermine oxidase as a mediator of reactive oxygen species production in HIV-Tat-induced neuronal toxicity.
Spermine oxidase mediates the gastric cancer risk associated with Helicobacter pylori CagA.
Title: Spermine oxidase mediates the gastric cancer risk associated with Helicobacter pylori CagA.

Submit: New GeneRIF Correction See all GeneRIFs (22)

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
Genome-wide association study of panic disorder in the Japanese population. EBI GWAS Catalog EBI GWAS CatalogPubMed
Hundreds of variants clustered in genomic loci and biological pathways affect human height. 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)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	HIV-1 Tat-induced activation of spermine oxidase (SMO) activity involves NMDAR stimulation in human neuroblastoma	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G32702 (e-PCR)
- UniSTS:117284

A009O14 (e-PCR)
- UniSTS:63598

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables N1-acetylspermine:oxygen oxidoreductase (N1-acetylspermidine-forming) activity	IEA Inferred from Electronic Annotation more info
enables norspermine:oxygen oxidoreductase 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:oxygen oxidoreductase (spermidine-forming) activity	TAS Traceable Author Statement more info

Process	Evidence Code	Pubs
involved_in polyamine biosynthetic process	TAS Traceable Author Statement more info
involved_in polyamine catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in spermine catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in spermine catabolic process	IEA Inferred from Electronic Annotation more info
involved_in xenobiotic metabolic process	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
located_in cytosol	IDA Inferred from Direct Assay more info
located_in cytosol	TAS Traceable Author Statement more info
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
located_in nuclear membrane	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: spermine oxidase

Names: flavin containing amine oxidase; flavin-containing spermine oxidase; polyamine oxidase 1; putative cyclin G1 interacting protein

NP_001257620.1

EC 1.5.3.16

NP_787033.1

EC 1.5.3.16

NP_787034.1

EC 1.5.3.16

NP_787035.1

EC 1.5.3.16

NP_787036.1

EC 1.5.3.16

XP_011527563.1

EC 1.5.3.16

XP_047296173.1

EC 1.5.3.16

XP_047296174.1

EC 1.5.3.16

XP_047296175.1

EC 1.5.3.16

XP_047296176.1

EC 1.5.3.16

XP_047296177.1

EC 1.5.3.16

XP_047296178.1

EC 1.5.3.16

XP_047296179.1

EC 1.5.3.16

XP_054179519.1

EC 1.5.3.16

XP_054179520.1

EC 1.5.3.16

XP_054179521.1

EC 1.5.3.16

XP_054179522.1

EC 1.5.3.16

XP_054179523.1

EC 1.5.3.16

XP_054179524.1

EC 1.5.3.16

XP_054179525.1

EC 1.5.3.16

XP_054179526.1

EC 1.5.3.16

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_001270691.2 → NP_001257620.1 spermine oxidase isoform 6

See identical proteins and their annotated locations for NP_001257620.1

Status: REVIEWED

Description

Transcript Variant: This variant (6) has an additional in-frame segment of the coding region, compared to variant 1. It encodes a longer isoform (6), also known as SMOX5 or SMO5, that has an additional internal segment compared to isoform 1.

Source sequence(s)

AW136764, AY358104, BG679874, EF032141

Consensus CDS

CCDS74702.1

UniProtKB/TrEMBL

B4DE63

Related

ENSP00000478305.1, ENST00000621355.4

Conserved Domains (2) summary

PLN02568
Location:50 → 578

PLN02568; polyamine oxidase

pfam13450
Location:45 → 88

NAD_binding_8; NAD(P)-binding Rossmann-like domain
NM_175839.3 → NP_787033.1 spermine oxidase isoform 1

See identical proteins and their annotated locations for NP_787033.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the most abundant transcript and encodes isoform (1), also known as PAOh1.

Source sequence(s)

AW136764, AY358104, BG679874, EF032141

Consensus CDS

CCDS13075.1

UniProtKB/Swiss-Prot

A2A2P5, A2A2P6, A8BE87, D3DVZ4, Q5TE26, Q5TE27, Q6UY28, Q8IX00, Q96LC3, Q96LC4, Q96QT3, Q9BW38, Q9H6H1, Q9NP51, Q9NPY1, Q9NPY2, Q9NWM0

UniProtKB/TrEMBL

B4DE63

Related

ENSP00000307252.4, ENST00000305958.9

Conserved Domains (2) summary

PLN02568
Location:50 → 548

PLN02568; polyamine oxidase

pfam13450
Location:45 → 88

NAD_binding_8; NAD(P)-binding Rossmann-like domain
NM_175840.3 → NP_787034.1 spermine oxidase isoform 2

See identical proteins and their annotated locations for NP_787034.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an in-frame segment of the coding region, compared to variant 1. It encodes a shorter isoform (2), also known as PAOh2, that is missing an internal segment compared to isoform 1.

Source sequence(s)

AW136764, AY358104, BG679874, EF032141

Consensus CDS

CCDS13076.1

UniProtKB/TrEMBL

B4DE63

Related

ENSP00000344595.6, ENST00000339123.10

Conserved Domains (1) summary

cl27535
Location:50 → 495

Amino_oxidase; Flavin containing amine oxidoreductase
NM_175841.3 → NP_787035.1 spermine oxidase isoform 3

See identical proteins and their annotated locations for NP_787035.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks an in-frame segment of the coding region, compared to variant 1. It encodes a shorter isoform (3), also known as PAOh3, that is missing an internal segment compared to isoform 1.

Source sequence(s)

AW136764, AY033891, BG679874

Consensus CDS

CCDS13077.1

UniProtKB/Swiss-Prot

Q9NWM0

Related

ENSP00000341775.2, ENST00000346595.6

Conserved Domains (1) summary

cl27535
Location:146 → 183

Amino_oxidase; Flavin containing amine oxidoreductase
NM_175842.3 → NP_787036.1 spermine oxidase isoform 4

See identical proteins and their annotated locations for NP_787036.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) has multiple differences in the coding region but maintains the reading frame, compared to variant 1. This variant encodes isoform 4, also known as PAOh4, which is shorter than isoform 1.

Source sequence(s)

AW136764, AY358104, BG679874, EF032141

Consensus CDS

CCDS13078.1

UniProtKB/TrEMBL

B4DE63

Related

ENSP00000278795.3, ENST00000278795.7

Conserved Domains (1) summary

cl27535
Location:50 → 525

Amino_oxidase; Flavin containing amine oxidoreductase

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

NC_000020.11 Reference GRCh38.p14 Primary Assembly

Range

4148828..4187727

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047440218.1 → XP_047296174.1 spermine oxidase isoform X1
XM_047440222.1 → XP_047296178.1 spermine oxidase isoform X3
XM_011529261.3 → XP_011527563.1 spermine oxidase isoform X1

See identical proteins and their annotated locations for XP_011527563.1

UniProtKB/TrEMBL

B4DE63

Conserved Domains (2) summary

PLN02568
Location:50 → 578

PLN02568; polyamine oxidase

pfam13450
Location:45 → 88

NAD_binding_8; NAD(P)-binding Rossmann-like domain
XM_047440220.1 → XP_047296176.1 spermine oxidase isoform X2

UniProtKB/Swiss-Prot

A2A2P5, A2A2P6, A8BE87, D3DVZ4, Q5TE26, Q5TE27, Q6UY28, Q8IX00, Q96LC3, Q96LC4, Q96QT3, Q9BW38, Q9H6H1, Q9NP51, Q9NPY1, Q9NPY2, Q9NWM0

Related

ENSP00000368773.2, ENST00000379460.6
XM_047440223.1 → XP_047296179.1 spermine oxidase isoform X3
XM_047440217.1 → XP_047296173.1 spermine oxidase isoform X1
XM_047440219.1 → XP_047296175.1 spermine oxidase isoform X1
XM_047440221.1 → XP_047296177.1 spermine oxidase isoform X3

Alternate T2T-CHM13v2.0

Genomic

NC_060944.1 Alternate T2T-CHM13v2.0

Range

4183413..4222031

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054323545.1 → XP_054179520.1 spermine oxidase isoform X1
XM_054323550.1 → XP_054179525.1 spermine oxidase isoform X3
XM_054323546.1 → XP_054179521.1 spermine oxidase isoform X1
XM_054323548.1 → XP_054179523.1 spermine oxidase isoform X2

UniProtKB/Swiss-Prot

A2A2P5, A2A2P6, A8BE87, D3DVZ4, Q5TE26, Q5TE27, Q6UY28, Q8IX00, Q96LC3, Q96LC4, Q96QT3, Q9BW38, Q9H6H1, Q9NP51, Q9NPY1, Q9NPY2, Q9NWM0
XM_054323551.1 → XP_054179526.1 spermine oxidase isoform X3
XM_054323544.1 → XP_054179519.1 spermine oxidase isoform X1
XM_054323547.1 → XP_054179522.1 spermine oxidase isoform X1
XM_054323549.1 → XP_054179524.1 spermine oxidase isoform X3

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_019025.2: Suppressed sequence

Description

NM_019025.2: This RefSeq record was removed by NCBI staff. Contact info@ncbi.nlm.nih.gov for further information.