Human Gene EPX (ENST00000225371.6_4) from GENCODE V47lift37
  Description: eosinophil peroxidase (from RefSeq NM_000502.6)
Gencode Transcript: ENST00000225371.6_4
Gencode Gene: ENSG00000121053.6_7
Transcript (Including UTRs)
   Position: hg19 chr17:56,270,087-56,282,535 Size: 12,449 Total Exon Count: 13 Strand: +
Coding Region
   Position: hg19 chr17:56,270,208-56,281,784 Size: 11,577 Coding Exon Count: 12 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr17:56,270,087-56,282,535)mRNA (may differ from genome)Protein (715 aa)
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MalacardsMGIOMIMPubMedReactomeUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: PERE_HUMAN
DESCRIPTION: RecName: Full=Eosinophil peroxidase; Short=EPO; EC=1.11.1.7; Contains: RecName: Full=Eosinophil peroxidase light chain; Contains: RecName: Full=Eosinophil peroxidase heavy chain; Flags: Precursor;
FUNCTION: Mediates tyrosine nitration of secondary granule proteins in mature resting eosinophils. Shows significant inhibitory activity towards Mycobacterium tuberculosis H37Rv by inducing bacterial fragmentation and lysis.
CATALYTIC ACTIVITY: 2 phenolic donor + H(2)O(2) = 2 phenoxyl radical of the donor + 2 H(2)O.
COFACTOR: Binds 1 calcium ion per heterodimer (By similarity).
COFACTOR: Binds 1 heme B (iron-protoporphyrin IX) covalently through ester linkages to hydroxylated methyl groups formed auto- catalytically with hydrogen peroxide at the heme C-1 and C-5 positions. The ester linkage to Asp-232 was observed in 30% of the chains.
SUBUNIT: Tetramer of two light chains and two heavy chains.
SUBCELLULAR LOCATION: Cytoplasmic granule. Note=Cytoplasmic granules of eosinophils.
POLYMORPHISM: Allelic variant in EPX is associated with Japanese cedar pollinosis which is a type I allergic disease with ocular and nasal symptoms that develop paroxysmally on contact with Japanese cedar pollen. These symptoms, which occur seasonally each year, are typical features of allergic rhinitis, such as sneezing, excessive nasal secretion, nasal congestion, and conjunctival itching.
DISEASE: Defects in EPX are the cause of eosinophil peroxidase deficiency (EPD) [MIM:261500]. EPD is an autosomal recessive defect where anomalous eosinophils are characterized by nuclear hypersegmentation, hypogranulation, and negative peroxidase and phospholipid staining.
SIMILARITY: Belongs to the peroxidase family. XPO subfamily.
WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/epx/";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: EPX
Diseases sorted by gene-association score: eosinophil peroxidase deficiency* (351), proctitis (28), allergic rhinitis (16), hypereosinophilic syndrome (16), rhinitis (16), conjunctival nevus (15), vernal conjunctivitis (15), endocarditis (13), onchocerciasis (13), food allergy (13), eosinophilic granuloma (10), eosinophilic gastroenteritis (10), pulmonary eosinophilia (9), inflammatory bowel disease 4 (9), chronic rhinitis (9), spleen cancer (8), osgood-schlatter's disease (8), allergic bronchopulmonary aspergillosis (8), asthma (7), collagenous colitis (7), allergic asthma (7), urinary schistosomiasis (7), sensory organ benign neoplasm (6), allergic hypersensitivity disease (6), pollen allergy (6), myasthenic syndrome, congenital, 5 (5), bronchial disease (1), leukocyte disease (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 1.06 RPKM in Brain - Cerebellum
Total median expression: 8.57 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -44.80121-0.370 Picture PostScript Text
3' UTR -174.80450-0.388 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR010255 - Haem_peroxidase
IPR002007 - Haem_peroxidase_animal
IPR019791 - Haem_peroxidase_animal_subgr

Pfam Domains:
PF03098 - Animal haem peroxidase

SCOP Domains:
48113 - Heme-dependent peroxidases

ModBase Predicted Comparative 3D Structure on P11678
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004601 peroxidase activity
GO:0016491 oxidoreductase activity
GO:0020037 heme binding
GO:0046872 metal ion binding

Biological Process:
GO:0002215 defense response to nematode
GO:0006952 defense response
GO:0006979 response to oxidative stress
GO:0032693 negative regulation of interleukin-10 production
GO:0032714 negative regulation of interleukin-5 production
GO:0032753 positive regulation of interleukin-4 production
GO:0042744 hydrogen peroxide catabolic process
GO:0043312 neutrophil degranulation
GO:0055114 oxidation-reduction process
GO:0072677 eosinophil migration
GO:0098869 cellular oxidant detoxification

Cellular Component:
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0034774 secretory granule lumen
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  AB527137 - Synthetic construct DNA, clone: pF1KE0036, Homo sapiens EPX gene for eosinophil peroxidase, without stop codon, in Flexi system.
BC111602 - Synthetic construct Homo sapiens clone IMAGE:40080549, MGC:133412 EPX protein (EPX) mRNA, encodes complete protein.
X14346 - Human mRNA for eosinophil peroxidase.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P11678 (Reactome details) participates in the following event(s):

R-HSA-6798748 Exocytosis of secretory granule lumen proteins
R-HSA-6798695 Neutrophil degranulation
R-HSA-168249 Innate Immune System
R-HSA-168256 Immune System

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000225371.1, ENST00000225371.2, ENST00000225371.3, ENST00000225371.4, ENST00000225371.5, EPER, EPO, EPP, NM_000502, P11678, PERE_HUMAN, Q4TVP3, uc317diu.1, uc317diu.2
UCSC ID: ENST00000225371.6_4
RefSeq Accession: NM_000502.6
Protein: P11678 (aka PERE_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.