EPX eosinophil peroxidase [Homo sapiens (human)] - Gene

Summary

Official Symbol: EPXprovided by HGNC
Official Full Name: eosinophil peroxidaseprovided by HGNC
Primary source: HGNC:HGNC:3423
See related: Ensembl:ENSG00000121053 MIM:131399; AllianceGenome:HGNC:3423
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: EPO; EPP; EPXD; EPX-PEN
Summary: This gene is a member of the peroxidase gene family and is expressed in eosinophils. The encoded preproprotein is proteolytically processed into covalently attached heavy and light chains to form the mature enzyme, which functions as an oxidant. The enzyme is released at sites of parasitic infection or allergen stimulation to mediate lysis of protozoa or parasitic worms. The gene is found in a gene cluster with other peroxidase genes on chromosome 17. Mutations in this gene result in eosinophil peroxidase deficiency. [provided by RefSeq, Feb 2016]
Expression: Biased expression in bone marrow (RPKM 13.2) and spleen (RPKM 0.3) See more
Orthologs: mouse all
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Genomic context

Location:: 17q22

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (58192726..58205174)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (59060619..59073061)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (56270087..56282535)

Chromosome 17 - NC_000017.11 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?

Eosinophils preserve bone homeostasis by inhibiting excessive osteoclast formation and activity via eosinophil peroxidase.
Title: Eosinophils preserve bone homeostasis by inhibiting excessive osteoclast formation and activity via eosinophil peroxidase.
Eosinophil Peroxidase: A Biomarker for Eosinophilic Chronic Rhinosinusitis Agnostic of Polyp Status.
Title: Eosinophil Peroxidase: A Biomarker for Eosinophilic Chronic Rhinosinusitis Agnostic of Polyp Status.
EPX is a useful biomarker for eosinophilic inflammation in chronic rhinosinusitis.
Title: Eosinophil peroxidase, GATA3, and T-bet as tissue biomarkers in chronic rhinosinusitis.
peroxidase enzymes, like MPO and EPO, may play a fundamental role in inhibiting RANKL-induced osteoclast differentiation at inflammatory sites of bone fracture and injury.
Title: Peroxidase enzymes inhibit osteoclast differentiation and bone resorption.
Both MPO and EPO are causatively involved in breast cancer progression and identified as potential therapeutic targets whereby specific novel inhibitors may reduce tumor growth and limit the occurrence of metastasis.
Title: Inflammatory peroxidases promote breast cancer progression in mice via regulation of the tumour microenvironment.
The main significance of this work is the discovery of EPO as a novel ligand for the HER2 receptor. Following HER2 activation, EPO induces activation of FAK and subsequent activation of beta1-integrin, via inside-out signaling. This complex results in downstream activation of ERK1/2 and a sustained up regulation of both MUC4 and the HER2 receptor
Title: Eosinophil peroxidase activates cells by HER2 receptor engagement and β1-integrin clustering with downstream MAPK cell signaling.
EPO-mediated protein carbamylation is promoted during allergen-induced asthma exacerbation, and can both modulate immune responses and trigger a cascade of many of the inflammatory signals present in asthma.
Title: Eosinophil Peroxidase Catalyzed Protein Carbamylation Participates in Asthma.
there is a strong association in a given patient between both nasal and pharyngeal EPX levels and the eosinophil percentage of induced sputum.
Title: Nasal and pharyngeal eosinophil peroxidase levels in adults with poorly controlled asthma correlate with sputum eosinophilia.
Myeloperoxidase and eosinophil peroxidase are readily internalized by HUVEC cells where they promote cellular proliferation, migration, invasion, and stimulate angiogenesis both in vitro and in vivo.
Title: Uncovering a new role for peroxidase enzymes as drivers of angiogenesis.
A preferential role of EPO signaling via a specific surface receptor that leads to neural plasticity.
Title: Eosinophil peroxidase induces expression of cholinergic genes via cell surface neural interactions.

Submit: New GeneRIF Correction See all GeneRIFs (27)

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

Associated conditions

Description	Tests
Eosinophil peroxidase deficiency MedGen: C1850000 OMIM: 261500 GeneReviews: Not available	Compare labs

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

G42205 (e-PCR)
- UniSTS:93308

WI-11807 (e-PCR)
- UniSTS:4784

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables heme binding	IEA Inferred from Electronic Annotation more info
enables lactoperoxidase activity	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables peroxidase activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in cellular oxidant detoxification	IEA Inferred from Electronic Annotation more info
involved_in defense response to bacterium	IBA Inferred from Biological aspect of Ancestor more info
involved_in defense response to nematode	IEA Inferred from Electronic Annotation more info
involved_in eosinophil migration	IEA Inferred from Electronic Annotation more info
involved_in hydrogen peroxide catabolic process	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of interleukin-10 production	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of interleukin-5 production	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of macrophage cytokine production	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of interleukin-4 production	IEA Inferred from Electronic Annotation more info
involved_in response to oxidative stress	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in secretory granule lumen	TAS Traceable Author Statement more info

General protein information

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Preferred Names: eosinophil peroxidase

NP_000493.1

EC 1.11.1.7

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.

Genomic

NG_013020.1 RefSeqGene

Range

4999..17447

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000502.6 → NP_000493.1 eosinophil peroxidase preproprotein

See identical proteins and their annotated locations for NP_000493.1

Status: REVIEWED

Source sequence(s)

AC005962, AJ705406, AL597635, BM147889, X14346

Consensus CDS

CCDS11602.1

UniProtKB/Swiss-Prot

P11678, Q4TVP3

Related

ENSP00000225371.5, ENST00000225371.6

Conserved Domains (2) summary

cd09824
Location:289 → 699

myeloperoxidase_like; Myeloperoxidases, eosinophil peroxidases, and lactoperoxidases

pfam03098
Location:145 → 683

An_peroxidase; Animal haem peroxidase