UPK3A Gene Summary [Human]

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]

Details

Type
Protein Coding
Official Symbol
UPK3A
Official Name
uroplakin 3A [Source:HGNC Symbol;Acc:HGNC:12580]
Ensembl ID
ENSG00000100373
Bio databases IDs NCBI: 7380 Ensembl: ENSG00000100373
Aliases uroplakin 3A
Synonyms 1110017C07Rik, UP3A, UPIII, UPIIIA, UPK3, uroplakin 3A
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human UPK3A often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • Uroplakin IIIb, IIIa and II
  • protein binding

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • neoplasia
  • congenital anomalies of kidney and urinary tract
  • hydronephrosis
  • vesicoureteral reflux
  • urothelial neoplasm
regulated by
regulates
  • UPK3B
  • urea
  • blood urea nitrogen
  • UPK1B
  • creatinine
  • water
role in cell
  • differentiation
  • morphogenesis

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Cytoplasm
  • discoidal-fusiform vesicle
  • cellular membrane
  • Plasma Membrane
  • apical cell surfaces
  • apical membrane

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human UPK3A gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • epithelial cell differentiation
  • urea transport
  • water transport
  • urinary bladder development
  • potassium ion homeostasis
  • kidney development
  • cell morphogenesis
  • sodium ion homeostasis

Cellular Component

Where in the cell the gene product is active
  • endoplasmic reticulum membrane
  • extracellular vesicular exosome
  • plasma membrane

Molecular Function

What the gene product does at the molecular level
  • protein binding

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.