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EPX eosinophil peroxidase [ Homo sapiens (human) ]

Gene ID: 8288, updated on 1-Jun-2020

Summary

Official Symbol
EPXprovided by HGNC
Official Full Name
eosinophil peroxidaseprovided by HGNC
Primary source
HGNC:HGNC:3423
See related
Ensembl:ENSG00000121053 MIM:131399
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

Genomic context

See EPX in Genome Data Viewer
Location:
17q22
Exon count:
13
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (58192726..58205174)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (56270089..56282535)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene msh homeobox 2 pseudogene 1 Neighboring gene olfactory receptor family 4 subfamily D member 2 Neighboring gene MKS transition zone complex subunit 1 Neighboring gene uncharacterized LOC105371841 Neighboring gene lactoperoxidase

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
heme binding IEA
Inferred from Electronic Annotation
more info
 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
peroxidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
cellular oxidant detoxification IEA
Inferred from Electronic Annotation
more info
 
defense response to bacterium IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
defense response to nematode IEA
Inferred from Electronic Annotation
more info
 
eosinophil migration IEA
Inferred from Electronic Annotation
more info
 
hydrogen peroxide catabolic process IEA
Inferred from Electronic Annotation
more info
 
negative regulation of interleukin-10 production IEA
Inferred from Electronic Annotation
more info
 
negative regulation of interleukin-5 production IEA
Inferred from Electronic Annotation
more info
 
neutrophil degranulation TAS
Traceable Author Statement
more info
 
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
positive regulation of interleukin-4 production IEA
Inferred from Electronic Annotation
more info
 
response to oxidative stress IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
extracellular exosome HDA PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
secretory granule lumen TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
eosinophil peroxidase
NP_000493.1

NCBI Reference Sequences (RefSeq)

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

  1. NG_013020.1 RefSeqGene

    Range
    4999..17447
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000502.6NP_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
    Related
    ENSP00000225371.5, ENST00000225371.6
    Conserved Domains (2) summary
    cd09824
    Location:289699
    myeloperoxidase_like; Myeloperoxidases, eosinophil peroxidases, and lactoperoxidases
    pfam03098
    Location:145683
    An_peroxidase; Animal haem peroxidase

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    58192726..58205174
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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