Homo sapiens Protein: UMOD | |||||||||||||||||||
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Summary | |||||||||||||||||||
InnateDB Protein | IDBP-18287.6 | ||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||
Gene Symbol | UMOD | ||||||||||||||||||
Protein Name | uromodulin | ||||||||||||||||||
Synonyms | ADMCKD2; FJHN; HNFJ; HNFJ1; MCKD2; THGP; THP; | ||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||
Ensembl Protein | ENSP00000306279 | ||||||||||||||||||
InnateDB Gene | IDBG-18285 (UMOD) | ||||||||||||||||||
Protein Structure | |||||||||||||||||||
UniProt Annotation | |||||||||||||||||||
Function | 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. {ECO:0000269PubMed:20798515}.Uromodulin, secreted form: Secreted into urine after proteolytically cleaveage. Into the urine, may contribute to colloid osmotic pressure, retards passage of positively charged electrolytes, prevents urinary tract infection and modulates formation of supersaturated salts and their crystals. {ECO:0000269PubMed:20798515}. | ||||||||||||||||||
Subcellular Localization | Apical cell membrane; Lipid-anchor, GPI- anchor. Basolateral cell membrane; Lipid-anchor, GPI-anchor. Cell projection, cilium membrane. Note=Only a small fraction is sort to the basolateral pole of tubular epithelial cells compared to apical localization. Secreted into urine after cleavage. Colocalized with NPHP1 and KIF3A.Uromodulin, secreted form: Secreted. | ||||||||||||||||||
Disease Associations | Familial juvenile hyperuricemic nephropathy 1 (HNFJ1) [MIM:162000]: A renal disease characterized by juvenile onset of hyperuricemia, polyuria, progressive renal failure, and gout. The disease is associated with interstitial pathological changes resulting in fibrosis. {ECO:0000269PubMed:12471200, ECO:0000269PubMed:12629136, ECO:0000269PubMed:12900848, ECO:0000269PubMed:14570709}. Note=The disease is caused by mutations affecting the gene represented in this entry.Medullary cystic kidney disease 2 (MCKD2) [MIM:603860]: 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. {ECO:0000269PubMed:12471200, ECO:0000269PubMed:14531790}. Note=The disease is caused by mutations affecting the gene represented in this entry.Glomerulocystic kidney disease with hyperuricemia and isosthenuria (GCKDHI) [MIM:609886]: 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. {ECO:0000269PubMed:14570709}. Note=The disease is caused by mutations affecting the gene represented in this entry. | ||||||||||||||||||
Tissue Specificity | Synthesized exclusively in the kidney. Expressed exclusively by epithelial cells of the thick ascending limb of Henle's loop (TALH) and of distal convoluted tubule lumen. Most abundant protein in normal urine. {ECO:0000269PubMed:7028707}. | ||||||||||||||||||
Comments | |||||||||||||||||||
Interactions | |||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
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Gene Ontology | |||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||
PDB ID | |||||||||||||||||||
InterPro |
IPR000742
Epidermal growth factor-like domain IPR001507 Zona pellucida domain IPR001881 EGF-like calcium-binding domain IPR009030 Insulin-like growth factor binding protein, N-terminal |
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PFAM |
PF00008
PF00100 PF07645 |
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PRINTS |
PR00023
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PIRSF | |||||||||||||||||||
SMART |
SM00181
SM00241 SM00179 |
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TIGRFAMs | |||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||
Modification | |||||||||||||||||||
Cross-References | |||||||||||||||||||
SwissProt | P07911 | ||||||||||||||||||
PhosphoSite | PhosphoSite- | ||||||||||||||||||
TrEMBL | Q8NHW8 | ||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||
Entrez Gene | 7369 | ||||||||||||||||||
UniGene | Hs.654425 | ||||||||||||||||||
RefSeq | NP_003352 | ||||||||||||||||||
HUGO | HGNC:12559 | ||||||||||||||||||
OMIM | 191845 | ||||||||||||||||||
CCDS | CCDS10583 | ||||||||||||||||||
HPRD | 11771 | ||||||||||||||||||
IMGT | |||||||||||||||||||
EMBL | AC106796 AK055722 AK091961 AK127643 AK127648 AY061638 AY162963 AY162964 AY162965 AY162967 AY162968 AY162969 AY162970 BC035975 M15881 M17778 | ||||||||||||||||||
GenPept | AAA36798 AAA36799 AAH35975 AAL27853 AAO64446 BAC87070 BAG51560 BAG52451 BAG54541 | ||||||||||||||||||