Description: Homo sapiens uromodulin (UMOD), transcript variant 1, mRNA. RefSeq Summary (NM_003361): The protein encoded by this gene is the most abundant protein in mammalian urine under physiological conditions. 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. This protein may act as a constitutive inhibitor of calcium crystallization in renal fluids. Excretion of this protein in urine may provide defense against urinary tract infections caused by uropathogenic bacteria. Defects in this gene are associated with the renal disorders medullary cystic kidney disease-2 (MCKD2), glomerulocystic kidney disease with hyperuricemia and isosthenuria (GCKDHI), and familial juvenile hyperuricemic nephropathy (FJHN). Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2013]. Transcript (Including UTRs) Position: hg19 chr16:20,344,373-20,364,037 Size: 19,665 Total Exon Count: 12 Strand: - Coding Region Position: hg19 chr16:20,344,636-20,362,059 Size: 17,424 Coding Exon Count: 11
ID:E9PEA4_HUMAN DESCRIPTION: SubName: Full=Uromodulin; SIMILARITY: Contains 1 ZP domain. CAUTION: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.
Creatinine Anna Kottgen et al. Nature genetics 2009, Multiple loci associated with indices of renal function and chronic kidney disease., Nature genetics.
[PubMed 19430482]
Hypertension Sandosh Padmanabhan et al. PLoS genetics 2010, Genome-wide association study of blood pressure extremes identifies variant near UMOD associated with hypertension., PLoS genetics.
[PubMed 21082022]
Kidney Diseases Anna Kottgen et al. Nature genetics 2010, New loci associated with kidney function and chronic kidney disease., Nature genetics.
[PubMed 20383146]
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on E9PEA4
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.