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FLASH GENE
Symbol UMOD contributors: mct - updated : 28-11-2009
HGNC name uromodulin
HGNC id 12559
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a 24 amino acid signal peptide at the N-terminus
  • three EGF-like domains
  • one ZP domain (zona pellucida)
  • a cysteine-rich region which includes a domain of eight cysteines D8C
  • a stretch of 16 hydrophobic AAs at its extreme C-terminus which could function as a GPI addition signal and was shown to label with [3H]ethanolamine
    • conjugated GlycoP
    isoforms Precursor 8a 84 kDa endoplasmic reticulum (ER)-resident precursor form and the 97 kDa mature form
    HOMOLOGY
    interspecies homolog to murine Umod
    intraspecies homolog to GP2
    Homologene
    FAMILY
    CATEGORY immunity/defense
    SUBCELLULAR LOCALIZATION extracellular
        plasma membrane
        intracellular
    intracellular,cytoplasm,cytosolic,vesicle
    intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
    intracellular,cytoplasm,cytoskeleton,microtubule,mitotic spindle
    text
  • apical vesicles of thick ascending limb of Henle loop
  • localization at the mitotic spindle poles and colocalization with other ciliary proteins such as nephrocystin-1 and kinesin family member 3A
    • basic FUNCTION
  • may be playing a role in regulating the circulating activity of cytokines
  • may be helping to maintaining the integrity of the loop of Henle
  • glycosylphosphatidylinositol (GPI)-linked membrane protein, released into the urine after the loss of its hydrophobic anchor, probably by the action of a phospholipase or protease
  • important role in antibacterial host defense but also in inflammatory disorders of the urogenital tract
  • potently activate macrophages and dendritic cells (DC) via the toll-like receptor 4 (TLR4) pathway
  • having a possible role in renal development
  • major genetic susceptibility locus for chronic kidney disease (CKD), further emphasizing the importance of UMOD in renal physiology
  • participates in renal sodium transport via KCNJ1 channel regulation
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component likely part of a multiprotein complex and takes part in the maintenance of cilia
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • SCARF1, SCARB1, MSR1, are receptors for UMOD
  • interaction and up-take by scavenger receptor might play an important role in local host defense and could contribute to inflammatory kidney diseases associated with UMOD-specific antibody responses
  • potential interaction partner of the renal outer medullary potassium channel KCNJ1, a key player in the process of salt reabsorption along the thick ascending limb
  • upregulates TRPV5 by acting from extracellular and by decreasing endocytosis of TRPV5 and the stimulation of Ca(2+) reabsorption via TRPV5 by UMOD may contribute to protection against kidney-stone formation
    • cell & other
    REGULATION
    Other urinary uromodulin is generated by a conserved C-terminal proteolytic cleavage and retains its entire ZP domain
    ASSOCIATED DISORDERS
    corresponding disease(s) MCKD2 , FJHN , GCKD2
    Susceptibility
    Variant & Polymorphism UMOD variant may influence the adaptation of the kidney to age-related risk factors of kidney disease such as hypertension and diabetes
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS