RBCC

PERE_HUMAN

Source: BSc_CH
Marked as 'Non-membrane protein'
Confidence: medium (present in either hRBCD or BSc_CH or PM22954596) Search PubMed for
(RBC AND this entry)
Gene names: EPX , EPER, EPO, EPP
Protein names and data: PERE_HUMAN , Eosinophil peroxidase; EPO; 1.11.1.7; Eosinophil peroxidase light chain; Eosinophil peroxidase heavy chain; Flags: Precursor Lenght: 715 a.a.
Mass: 81040 Da
fasta formatted sequence
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.
Disease: ( OMIM: 131399 261500 ) Eosinophil peroxidase deficiency (EPD) [MIM:261500]: Autosomal recessive defect where anomalous eosinophils are characterized by nuclear hypersegmentation, hypogranulation, and negative peroxidase and phospholipid staining. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Cytoplasmic granule. Note=Cytoplasmic granules of eosinophils.

Genetic variants

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.

35 - 35 V -> I (in dbSNP:rs34553736). VAR_050485 34553736
40 - 40 I -> M (in dbSNP:rs11079339). VAR_025138 11079339
122 - 122 Q -> H (in dbSNP:rs11652709). VAR_025139 11652709
249 - 249 A -> E (in dbSNP:rs35896669). VAR_025140 35896669
276 - 276 K -> R (in dbSNP:rs35074452). VAR_025141 35074452
286 - 286 R -> H (in EPD; dbSNP:rs121434566). VAR_015376 121434566
292 - 292 P -> L (in dbSNP:rs33971258). VAR_025142 33971258
326 - 326 R -> H (in dbSNP:rs35832094). VAR_060197 35832094
326 - 326 R -> L. VAR_060198
326 - 326 R -> P (in dbSNP:rs35832094). VAR_025143 35832094
358 - 358 P -> L (associated with Japanese cedar pollinosis; dbSNP:rs35135976). VAR_025144 35135976
364 - 364 R -> H (in dbSNP:rs35232062). VAR_025145 35232062
441 - 441 K -> T (in dbSNP:rs35750729). VAR_025146 35750729
458 - 458 V -> M (in dbSNP:rs34817773). VAR_050486 34817773
496 - 496 H -> Q (in dbSNP:rs33955150). VAR_025147 33955150
572 - 572 N -> Y (in dbSNP:rs2302311). VAR_020031 2302311

Database cross-references

UniProt: P11678
Ensembl: ENST00000225371
MIM: 131399
MIM: 261500
neXtProt: NX_P11678
Antibodypedia: P11678 (may not find the protein thus also not any antibody)
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RBCC Red Blood Cell Collection

PERE_HUMAN

Genetic variants

Database cross-references

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