UPK3A

UPK3A is 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.

Full Name

Uroplakin 3A

Function

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 (By similarity).

Biological Process

Biological Process cell morphogenesis Source:Ensembl
Biological Process epithelial cell differentiation Source:UniProtKB1 Publication
Biological Process kidney development Source:Ensembl
Biological Process potassium ion homeostasis Source:Ensembl
Biological Process sodium ion homeostasis Source:Ensembl
Biological Process urea transport Source:GO_Central1 Publication
Biological Process urinary bladder development Source:Ensembl
Biological Process water transport Source:GO_Central1 Publication

Cellular Location

Endoplasmic reticulum membrane
Heterodimer formation with UPK1B is a prerequisite to exit out of the endoplasmic reticulum (ER).

Involvement in disease

Mutations in UPK3A have been detected in patients with renal adyplasia suggesting a possible involvement of this gene in kidney and urinary tract anomalies.

Topology

Lumenal: 19-207
Helical: 208-235
Cytoplasmic: 236-287