InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: UMOD

Summary

InnateDB Protein

IDBP-747334.3

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

UMOD

Protein Name

Synonyms

ADMCKD2; FJHN; HNFJ; HNFJ1; MCKD2; THGP; THP;

Species

Homo sapiens

Ensembl Protein

ENSP00000460548

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.

Experimentally validated
Total	2 [view]
Protein-Protein	2 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005509	calcium ion binding
GO:0005515	protein binding
GO:0019864	IgG binding

Biological Process

GO:0006968	cellular defense response
GO:0007157	heterophilic cell-cell adhesion
GO:0007159	leukocyte cell-cell adhesion
GO:0008285	negative regulation of cell proliferation
GO:1990266	neutrophil migration

Cellular Component

GO:0000922	spindle pole
GO:0016323	basolateral plasma membrane
GO:0016324	apical plasma membrane
GO:0019898	extrinsic component of membrane
GO:0031225	anchored component of membrane
GO:0060170	ciliary membrane
GO:0070062	extracellular vesicular exosome
GO:0072372	primary cilium

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

PFAM

PF00008
PF00100
PF07645

PRINTS

PR00023

PIRSF

SMART

SM00181
SM00241
SM00179

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt