Uroplakin 3A (UPK3A)

UPIII; UPK3

SPN	R239
HGNC	12580
MGI	98914
PubMed	20346489
RGD	1310633
UniProt	O75631
Wiki	UPK3A

Uroplakins (UPK) are integral membrane proteins that form 2-dimensional crystalline arrays termed urothelial plaques that cover more than 90% of the apical urothelial surface. The asymmetric unit membrane (AUM) forms the apical plaques of urothelium and is believed to strengthen the urothelial apical surface and prevent the cells from rupturing during bladder distention. The 4 major conserved integral membrane proteins of the AUM are UPK1A, UPK1B , UPK2, and UPK3A.

UPK3A 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.

Reference

"Expression of uroplakin Ib and uroplakin III genes in tissues and peripheral blood of patients with transitional cell carcinoma."
Jpn. J. Cancer Res. 89:879-882(1998) [PubMed] [Europe PMC] [Abstract]

"A genome annotation-driven approach to cloning the human ORFeome."
Genome Biol. 5:R84.1-R84.11(2004) [PubMed] [Europe PMC] [Abstract]

"The DNA sequence of human chromosome 22."
Nature 402:489-495(1999) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"Uroplakin gene expression by normal and neoplastic human urothelium."
Am. J. Pathol. 153:1957-1967(1998) [PubMed] [Europe PMC] [Abstract]

"De novo Uroplakin IIIa heterozygous mutations cause human renal adysplasia leading to severe kidney failure."
J. Am. Soc. Nephrol. 16:2141-2149(2005) [PubMed] [Europe PMC] [Abstract]

"Mutations in Uroplakin IIIA are a rare cause of renal hypodysplasia in humans."
Am. J. Kidney Dis. 47:1004-1012(2006) [PubMed] [Europe PMC] [Abstract]