RBCC Red Blood Cell Collection

PON1_HUMAN

Source: PM19886704
PM23856902
Marked as 'Non-membrane protein'
Confidence: low (only semi-automatic identification from reviews) Search PubMed for
(RBC AND this entry)
Gene names: PON1 , PON
Protein names and data: PON1_HUMAN , Serum paraoxonase/arylesterase 1; PON 1; 3.1.1.2; 3.1.1.81; 3.1.8.1 , Aromatic esterase 1; A-esterase 1; K-45; Serum aryldialkylphosphatase 1 Lenght: 355 a.a.
Mass: 39731 Da
fasta formatted sequence
Function: Hydrolyzes the toxic metabolites of a variety of organophosphorus insecticides. Capable of hydrolyzing a broad spectrum of organophosphate substrates and lactones, and a number of aromatic carboxylic acid esters. Mediates an enzymatic protection of low density lipoproteins against oxidative modification and the consequent series of events leading to atheroma formation.
Catalytic activity: A phenyl acetate + H(2)O = a phenol + acetate. An aryl dialkyl phosphate + H(2)O = dialkyl phosphate + an aryl alcohol. An N-acyl-L-homoserine lactone + H(2)O = an N- acyl-L-homoserine.
Disease: ( OMIM: 168820 612633 ) Microvascular complications of diabetes 5 (MVCD5) [MIM:612633]: Pathological conditions that develop in numerous tissues and organs as a consequence of diabetes mellitus. They include diabetic retinopathy, diabetic nephropathy leading to end- stage renal disease, and diabetic neuropathy. Diabetic retinopathy remains the major cause of new-onset blindness among diabetic adults. It is characterized by vascular permeability and increased tissue ischemia and angiogenesis. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. Homozygosity for the Leu-55 allele is strongly associated with the development of retinal disease in diabetic patients.
Cellular location: Secreted, extracellular space.
Tissue specificity: Plasma, associated with HDL (at protein level). Expressed in liver, but not in heart, brain, placenta, lung, skeletal muscle, kidney or pancreas.

Genetic variants

The allelic form of the enzyme with Gln-192 (allozyme A) hydrolyzes paraoxon with a low turnover number and the one with Arg-192 (allozyme B) with a high turnover number.

55 - 55 L -> M (in dbSNP:rs854560). VAR_006043 854560
102 - 102 I -> V (polymorphism associated with decreased activity that seems to be associated with an increased risk for prostate cancer). VAR_015882
160 - 160 R -> G (in dbSNP:rs13306698). VAR_055342 13306698
192 - 192 Q -> R (polymorphism important for activity; dbSNP:rs662). VAR_006044 662

Database cross-references

UniProt: P27169
Ensembl: ENST00000222381
MIM: 168820
MIM: 612633
neXtProt: NX_P27169
Antibodypedia: P27169 (may not find the protein thus also not any antibody)
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