Uromodulin (UMOD)

THP; Uromucoid,Tamm-Horsfall Glycoprotein; Tamm-Horsfall urinary glycoprotein

SPN	P828
HGNC	12559
MGI	102674
PubMed	21071970
RGD	3940
UniProt	P07911
Wiki	Uromodulin

Uromodulin, the most abundant protein in normal urine. Its excretion in urine follows proteolytic cleavage of the ectodomain of its glycosyl phosphatidylinosital-anchored counterpart that is situated on the luminal cell surface of the loop of Henle. Uromodulin may act as a constitutive inhibitor of calcium crystallization in renal fluids. Excretion of uromodulin in urine may provide defense against urinary tract infections caused by uropathogenic bacteria. Defects in this gene are associated with the autosomal dominant renal disorders medullary cystic kidney disease-2 and familial juvenile hyperuricemic nephropathy. These disorders are characterized by juvenile onset of hyperuricemia, gout, and progressive renal failure. While several transcript variants may exist for this gene, the full-length natures of only two have been described to date.

Reference

"Identification of human uromodulin as the Tamm-Horsfall urinary glycoprotein."
Science 236:83-88(1987) [PubMed] [Europe PMC] [Abstract]

"Uromodulin (Tamm-Horsfall glycoprotein): a renal ligand for lymphokines."
Science 237:1479-1484(1987) [PubMed] [Europe PMC] [Abstract]

"Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy."
J. Med. Genet. 39:882-892(2002) [PubMed] [Europe PMC] [Abstract]

"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]

"The sequence and analysis of duplication-rich human chromosome 16."
Nature 432:988-994(2004) [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]

"Urinary uromodulin carries an intact ZP domain generated by a conserved C-terminal proteolytic cleavage."
Biochem. Biophys. Res. Commun. 370:410-413(2008) [PubMed] [Europe PMC] [Abstract]

"Localization of Tamm-Horsfall glycoprotein in the human kidney using immuno-fluorescence and immuno-electron microscopical techniques."
J. Anat. 132:597-605(1981) [PubMed] [Europe PMC] [Abstract]

"Uromodulin (Tamm-Horsfall glycoprotein/uromucoid) is a phosphatidylinositol-linked membrane protein."
J. Biol. Chem. 265:20784-20789(1990) [PubMed] [Europe PMC] [Abstract]

"Uromodulin facilitates neutrophil migration across renal epithelial monolayers."
Cell. Physiol. Biochem. 26:311-318(2010) [PubMed] [Europe PMC] [Abstract]

"Uromodulin is expressed in renal primary cilia and UMOD mutations result in decreased ciliary uromodulin expression."
Hum. Mol. Genet. 19:1985-1997(2010) [PubMed] [Europe PMC] [Abstract]

"Human urinary glycoproteomics; attachment site specific analysis of N-and O-linked glycosylations by CID and ECD."
Mol. Cell. Proteomics 0:0-0(2011) [PubMed] [Europe PMC] [Abstract]

"Novel uromodulin mutation in familial juvenile hyperuricemic nephropathy."
Am. J. Nephrol. 36:114-120(2012) [PubMed] [Europe PMC] [Abstract]

"Renal manifestations of a mutation in the uromodulin (Tamm Horsfall protein) gene."
Am. J. Kidney Dis. 42:E20-E26(2003) [PubMed] [Europe PMC] [Abstract]

"Allelism of MCKD, FJHN and GCKD caused by impairment of uromodulin export dynamics."
Hum. Mol. Genet. 12:3369-3384(2003) [PubMed] [Europe PMC] [Abstract]

"A cluster of mutations in the UMOD gene causes familial juvenile hyperuricemic nephropathy with abnormal expression of uromodulin."
J. Am. Soc. Nephrol. 14:2883-2893(2003) [PubMed] [Europe PMC] [Abstract]

"UROMODULIN mutations cause familial juvenile hyperuricemic nephropathy."
J. Clin. Endocrinol. Metab. 88:1398-1401(2003) [PubMed] [Europe PMC] [Abstract]

"Mutations of the Uromodulin gene in MCKD type 2 patients cluster in exon 4, which encodes three EGF-like domains."
Kidney Int. 64:1580-1587(2003) [PubMed] [Europe PMC] [Abstract]

"Familial juvenile hyperuricemic nephropathy: detection of mutations in the uromodulin gene in five Japanese families."
Kidney Int. 65:1589-1597(2004) [PubMed] [Europe PMC] [Abstract]

"Functional consequences of a novel uromodulin mutation in a family with familial juvenile hyperuricaemic nephropathy."
Nephrol. Dial. Transplant. 19:3150-3154(2004) [PubMed] [Europe PMC] [Abstract]

"A novel pattern of mutation in uromodulin disorders: autosomal dominant medullary cystic kidney disease type 2, familial juvenile hyperuricemic nephropathy, and autosomal dominant glomerulocystic kidney disease."
Am. J. Kidney Dis. 46:52-57(2005) [PubMed] [Europe PMC] [Abstract]

"Defective intracellular trafficking of uromodulin mutant isoforms."
Traffic 7:1567-1579(2006) [PubMed] [Europe PMC] [Abstract]

"A case of familial juvenile hyperuricemic nephropathy with novel uromodulin gene mutation, a novel heterozygous missense mutation in Korea."
J. Korean Med. Sci. 25:1680-1682(2010) [PubMed] [Europe PMC] [Abstract]

"A Japanese family suffering from familial juvenile hyperuricemic nephropathy due to a rare mutation of the uromodulin gene."
Case Rep. Nephrol. Urol. 2:15-19(2012) [PubMed] [Europe PMC] [Abstract]

"Novel UMOD mutations in familial juvenile hyperuricemic nephropathy lead to abnormal uromodulin intracellular trafficking."
Gene 531:363-369(2013) [PubMed] [Europe PMC] [Abstract]

"Pathogenic uromodulin mutations result in premature intracellular polymerization."
FEBS Lett. 589:89-93(2015) [PubMed] [Europe PMC] [Abstract]