NP_001008390.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
NCBI Official Full Name
uromodulin
NCBI Official Synonym Full Names
uromodulin
NCBI Official Synonym Symbols
THP; FJHN; HNFJ; THGP; HNFJ1; MCKD2; ADMCKD2 [Similar Products]
NCBI Protein Information
uromodulin; uromucoid; OTTHUMP00000162212; OTTHUMP00000162213; Tamm-Horsfall glycoprotein; tamm-Horsfall urinary glycoprotein; uromodulin (uromucoid, Tamm-Horsfall glycoprotein)
UniProt Protein Name
Uromodulin
UniProt Synonym Protein Names
Tamm-Horsfall urinary glycoprotein
UniProt Entry Name
UROM_HUMAN
NCBI Summary for UMOD
This gene encodes 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 (MCKD2) and familial juvenile hyperuricemic nephropathy (FJHN). 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. These two represent the major variants of this gene and encode the same isoform. [provided by RefSeq]
UniProt Comments for UMOD
UMOD: Uromodulin: Functions in biogenesis and organization of the apical membrane of epithelial cells of the thick ascending limb of Henle's loop (TALH), where it promotes formation of complex filamentous gel-like structure providing the water barrier permeability. May serve as a receptor for binding and endocytosis for cytokines (IL-1, IL-2) and TNF. Facilitates neutrophil migration across renal epithelial. Defects in UMOD are the cause of familial juvenile hyperuricemic nephropathy type 1 (HNFJ1). HNFJ1 is a renal disease characterized by juvenil onset of hyperuricemia, polyuria, progressive renal failure, and gout. The disease is associated with interstitial pathological changes resulting in fibrosis. Defects in UMOD are the cause of medullary cystic kidney disease type 2 (MCKD2). MCKD2 is a form of tubulointerstitial nephropathy characterized by formation of renal cysts at the corticomedullary junction. It is characterized by adult onset of impaired renal function and salt wasting resulting in end-stage renal failure by the sixth decade. Defects in UMOD are the cause of glomerulocystic kidney disease with hyperuricemia and isosthenuria (GCKDHI). GCKDHI is a renal disorder characterized by a cystic dilation of Bowman space, a collapse of glomerular tuft, and hyperuricemia due to low fractional excretion of uric acid and severe impairment of urine concentrating ability. 4 isoforms of the human protein are produced by alternative splicing.
Protein type: Membrane protein, GPI anchor
Chromosomal Location of Human Ortholog: 16p12.3
Cellular Component: spindle pole; Golgi apparatus; extracellular space; extrinsic to membrane; basolateral plasma membrane; apical plasma membrane; cytoplasmic vesicle; lipid raft
Molecular Function: IgG binding; calcium ion binding
Biological Process: response to organic substance; heterophilic cell adhesion; negative regulation of cell proliferation; leukocyte adhesion; cellular defense response; excretion; chemical homeostasis
Disease: Hyperuricemic Nephropathy, Familial Juvenile, 1; Glomerulocystic Kidney Disease With Hyperuricemia And Isosthenuria; Medullary Cystic Kidney Disease 2
Research Articles on UMOD
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Diseases associated with anti-UMOD antibody
Organs/Tissues associated with anti-UMOD antibody
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