Two common human CLDN5 alleles encode different open reading frames but produce one protein isoform.

ABSTRACT: Claudins provide tight junction barrier selectivity. The human CLDN5 gene contains a high-frequency single-nucleotide polymorphism (rs885985), where the G allele codes for glutamine (Q) and the A allele codes for an amber stop codon. Thus, these different CLDN5 alleles define nested open reading frames (ORFs) encoding claudin-5 proteins that are 303 or 218 amino acids in length. Interestingly, human claudin-16 and claudin-23 also have long ORFs. The long form of claudin-5 contrasts with the majority of claudin-5 proteins in the National Center for Biotechnology Information protein database, which are less than 220 amino acids in length. Screening of genotyped human lung tissue by immunoblot revealed only the 218 amino acid form of claudin-5 protein; the long-form claudin-5 protein was not

SUBMITTER: Cornely RM 

PROVIDER: S-EPMC5479753 | biostudies-literature | 2017 Jun

REPOSITORIES: biostudies-literature