Episialin, a carcinoma-associated mucin, is generated by a polymorphic gene encoding splice variants with alternative amino termini.
Episialin is a mucin-type glycoprotein present at the luminal side of most glandular epithelial cells. We have isolated cDNA clones encoding episialin and determined the structure of the gene. The gene encodes a transmembrane protein which consists of, for the greater part, tandem repeats of 20 amino acids. The number of these repeats varies between 40 and 90 among different alleles. The repeats and most of the remainder of the protein are very rich in potential O- linked glycosylation sites. Two different splice variants were found. Interestingly, the proteins encoded by these two variants differ in their signal sequences and in the extreme amino-terminal parts of the mature proteins, suggesting alternative processing of these two species.