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FLASH GENE
Symbol UMOD contributors: mct - updated : 28-11-2009
HGNC name uromodulin
HGNC id 12559
RNA
TRANSCRIPTS type messenger
text Variants 1 and 2 encode the same protein
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
11 - 2327 - 640 - 1990 2249987
11 - 2264 - 640 - 1990 2249987
EXPRESSION
Type restricted
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Urinarybladder     Homo sapiens
 kidneytubuleHenles loopHL ascending limbhighly Homo sapiens
 kidneytubuleconvoluted tubule   Homo sapiens
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscularstriatumskeletal   Homo sapiens
cell lineage
cell lines
fluid/secretion he most abundant protein in human urine under physiological conditions
at STAGE
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