Uroplakin 3a (UPK3A) Human Recombinant Protein

This gene encodes a member of the uroplakin family, a group of transmembrane proteins that form complexes on the apical surface of the bladder epithelium. Mutations in this gene may be associated with renal adysplasia. Alternatively spliced transcript variants have been described.[provided by RefSeq, Nov 2009]

UPK3A: Component of the asymmetric unit membrane (AUM); a highly specialized biomembrane elaborated by terminally differentiated urothelial cells. May play an important role in AUM-cytoskeleton interaction in terminally differentiated urothelial cells. It also contributes to the formation of urothelial glycocalyx which may play an important role in preventing bacterial adherence. Defects in UPK3A are a cause of renal adysplasia (RADYS); also known as renal agenesis or renal aplasia. Renal agenesis refers to the absence of one (unilateral) or both (bilateral) kidneys at birth. Bilateral renal agenesis belongs to a group of perinatally lethal renal diseases, including severe bilateral renal dysplasia, unilateral renal agenesis with contralateral dysplasia and severe obstructive uropathy. Belongs to the uroplakin-3 family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Membrane protein, integral

Chromosomal Location of Human Ortholog: 22q13.31

Cellular Component: endoplasmic reticulum membrane; apical plasma membrane; integral to membrane

Biological Process: epithelial cell differentiation; urinary bladder development; water transport; urea transport; cell morphogenesis; sodium ion homeostasis; kidney development; potassium ion homeostasis

Disease: Renal Hypodysplasia/aplasia 1