Umod Gene Summary [Mouse]

This gene encodes a glycoprotein that is the most abundant protein in mammalian urine under physiological conditions. It is synthesized in the kidney as a glycosyl-phosphatidylinositol anchored protein and released into urine as a soluble form by proteolytic cleavage. It is thought to regulate water and salt balance in the thick ascending limb of Henle and to protect against urinary tract infection and calcium oxalate crystal formation. In mouse deficiency of this gene is associated with increased susceptibility to bacterial infections and formation of calcium crystals in kidneys. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

Details

Type
Protein Coding
Official Symbol
Umod
Official Name
uromodulin [Source:MGI Symbol;Acc:MGI:102674]
Ensembl ID
ENSMUSG00000030963
Bio databases IDs NCBI: 22242 Ensembl: ENSMUSG00000030963
Aliases uromodulin
Synonyms ADMCKD2, ADTKD1, FJHN, HNFJ, HNFJ1, MCKD2, THGP, THP, Urehd1, urehr4, Uromodulin
Species
Mouse, Mus musculus
OrthologiesHumanRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Umod often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • IgG binding
  • Zona pellucida-like domain
  • light chain binding domain
  • Zona pellucida (ZP) domain
  • EGF domain
  • protein binding
  • EGF_CA

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
binds
disease
  • familial juvenile hyperuricemic nephropathy type 1
  • hypertension
  • phosphaturia
  • familial juvenile gout
  • gout
  • hydronephrosis
  • maturity-onset diabetes of the young type 5
  • renal failure
  • chronic kidney disease
  • hereditary disorder
regulated by
  • UMOD
  • colchicine
  • 4-phenylbutyric acid
  • POU3F3
  • TLR4
  • U0126
  • paclitaxel
  • IGKC
  • uranyl nitrate
  • ENDOGLYCOSIDASE H
regulates
role in cell
  • apoptosis
  • cell viability
  • expression in
  • proliferation
  • activation
  • phosphorylation in
  • migration
  • response by
  • migration by
  • autophagy by

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Extracellular Space
  • Golgi lumen
  • Cytoplasm
  • cilia
  • apical compartment
  • cellular membrane
  • Plasma Membrane
  • Golgi Apparatus
  • Endoplasmic Reticulum
  • apical cell surfaces
  • apical membrane
  • basolateral membrane
  • spindle pole
  • exosomes

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the mouse Umod gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • RNA splicing
  • renal water homeostasis
  • potassium ion homeostasis
  • urea transmembrane transport
  • negative regulation of cell proliferation
  • glomerular filtration
  • chaperone-mediated protein folding
  • heterophilic cell-cell adhesion
  • cellular sodium ion homeostasis
  • apoptotic signaling pathway
  • response to xenobiotic stimulus
  • juxtaglomerular apparatus development
  • leukocyte cell-cell adhesion
  • response to water deprivation
  • collecting duct development
  • inflammatory response
  • regulation of protein transport
  • autophagy
  • metanephric distal convoluted tubule development
  • multicellular organismal response to stress
  • cellular response to unfolded protein
  • urate transport
  • protein localization to vacuole
  • cellular chloride ion homeostasis
  • cellular phosphate ion homeostasis
  • defense response to Gram-negative bacterium
  • micturition
  • organ or tissue specific immune response
  • citric acid secretion
  • endoplasmic reticulum organization
  • regulation of blood pressure
  • cellular calcium ion homeostasis
  • renal sodium ion absorption
  • regulation of urine volume
  • cellular defense response
  • tumor necrosis factor-mediated signaling pathway
  • metanephric thick ascending limb development
  • lipid metabolic process
  • response to lipopolysaccharide
  • metanephric ascending thin limb development

Cellular Component

Where in the cell the gene product is active
  • spindle pole
  • endoplasmic reticulum
  • Golgi lumen
  • cell surface
  • extracellular space
  • extracellular vesicular exosome
  • membrane
  • cilium
  • cilium membrane
  • extrinsic to membrane
  • basolateral plasma membrane
  • apical plasma membrane

Molecular Function

What the gene product does at the molecular level
  • protein binding
  • calcium ion binding
  • IgG binding

Gene-Specific Assays for Results You Can Trust

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