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FLASH GENE

Symbol

UPK3A

contributors: mct - updated : 12-03-2014

HGNC name	uroplakin 3A
HGNC id	12580

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

EXPRESSION

Type	restricted

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Urinary ureter       highly Homo sapiens

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial barrier/lining uroepithelium   highly Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

embryo

Text	nascent uroepithelial cells in the ureter, renal pelvis and bladder (Jenkins 2005)

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

conjugated

GlycoP

mono polymer

heteromer , dimer

isoforms

Precursor

HOMOLOGY

interspecies	homolog to murine Upk3a (84.3pc)
	homolog to rattus Upk3a (84.9pc)

Homologene

FAMILY

uroplakin-3 family

CATEGORY

adaptor , structural protein

SUBCELLULAR LOCALIZATION	extracellular
	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endoplasmic reticulum
	intracellular,cytoplasm,cytosolic,vesicle
text	urothelium-specific transmembrane protein; type I membrane protein

basic FUNCTION	playing a role in AUM-cytoskeleton interaction in terminally differentiated urothelial cells
	contributing to the formation of urothelial glycocalyx which may play a role in preventing bacterial adherence
	plays a pivotal role in urinary tract infection pathogenesis as its induction during urothelial differentiation sensitizes cells to uropathogenic E.Coli-induced death
	undergoes phosphorylation in response to bacteria and mediates bladder response to infection

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

development

text	kidney development

PATHWAY

metabolism

signaling

a component	component of the asymetric unit membrane (aum), a highly specialized biomembrane elabored by terminally differentiated urothlial cells
	heterodimerizing with UPK1B, which is a prerequisite to exit out of the endoplasmic reticulum

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

RADP4

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral         loss of UPK3A expression is associated with marker of aggressive bladder cancer such as lymphovascular invasion, pathologic stage and grade

Susceptibility

Variant & Polymorphism

Candidate gene	mutation in the UPK3A gene may result in functional obstruction to fetal urine flow, leading to pertubed kidney development
	potentially pathogenic mutation in patient with renal hypodysplasia
Marker	up-regulation of mRNA levels in vesicoureteral reflux patients is a potential application as a screening test for vesicoureteral reflux
	from the diagnostic viewpoint, UPK3-delta4 is a potential marker for identifying nonulcerative interstitial cystitis
	urine measurement of UPK3A is a sensitive marker for the detection of bladder cancer
Therapy target	gene therapy viral vectors driven by the uroplakin promoter would drive therapeutic gene expression in high-UPK3A-expressing transitional cell carcinoma (TCC) cells but not in aggressive low-UPK3A-expressing TCC cells

ANIMAL & CELL MODELS