Common allotypes of ER aminopeptidase 1 have substrate-dependent and highly variable enzymatic properties.

ABSTRACT: Polymorphic variation of immune system proteins can drive variability of individual immune responses. Endoplasmic reticulum aminopeptidase 1 (ERAP1) generates antigenic peptides for presentation by major histocompatibility complex class I molecules. Coding SNPs in ERAP1 have been associated with predisposition to inflammatory rheumatic disease and shown to affect functional properties of the enzyme, but the interplay between combinations of these SNPs as they exist in allotypes has not been thoroughly explored. We used phased genotype data to estimate ERAP1 allotype frequency in 2504 individuals across five major human populations, generated highly pure recombinant enzymes corresponding to the ten most common ERAP1 allotypes, and systematically characterized their in vitro enzymatic proper

SUBMITTER: Hutchinson JP 

PROVIDER: S-EPMC8024916 | biostudies-literature | 2021 Jan-Jun

REPOSITORIES: biostudies-literature