Human Gene EPX (ENST00000225371.6) from GENCODE V44
Description: Homo sapiens eosinophil peroxidase (EPX), mRNA. (from RefSeq NM_000502) RefSeq Summary (NM_000502): 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]. Gencode Transcript: ENST00000225371.6 Gencode Gene: ENSG00000121053.6 Transcript (Including UTRs) Position: hg38 chr17:58,192,726-58,205,174 Size: 12,449 Total Exon Count: 13 Strand: + Coding Region Position: hg38 chr17:58,192,847-58,204,423 Size: 11,577 Coding Exon Count: 12
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/";
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.
ModBase Predicted Comparative 3D Structure on P11678
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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.
US Server
Sequence and Links to Tools and Databases 
Microarray Expression Data 
