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FLASH GENE

Symbol

UMOD

contributors: mct - updated : 28-11-2009

HGNC name	uromodulin
HGNC id	12559

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	FJHN familial juvenile hyperuricemic nephropathy GCKD2 glomerulocystic kidney disease 2 MCKD2 medullary cystic kidney disease 2
Location	16p12.3      Physical location : 20.344.373 - 20.364.037
Synonym name	uromodulin (uromucoid, Tamm-Horsfall glycoprotein)
	Tamm-Horsfall glycoprotein
	uromucoid
Synonym symbol(s)	ADMCKD2, THP, FJHN, HNFJ, THGP, MCKD2

DNA

TYPE	functioning gene
STRUCTURE	19.66 kb     11 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

Map	pter - D16S287 - UMOD - D16S295 - cen

RNA

TRANSCRIPTS	type	messenger

text	Variants 1 and 2 encode the same protein

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_003361 11 - 2327 NP_003352 - 640 - 1990 2249987 NM_001008389 11 - 2264 NP_001008390 - 640 - 1990 2249987

EXPRESSION

Type	restricted

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Urinary bladder         Homo sapiens   kidney tubule Henles loop HL ascending limb highly Homo sapiens   kidney tubule convoluted tubule     Homo sapiens

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum skeletal     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