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UMOD uromodulin [Homo sapiens (human)]


RefSeq Accession Definition Sequence Price Select
NM_001008389 Homo sapiens uromodulin (UMOD), transcript variant 2, mRNA. Full Length $656.56
ORF Sequence $557.67
NM_003361 Homo sapiens uromodulin (UMOD), transcript variant 1, mRNA. Full Length $674.83
ORF Sequence $557.67


Gene Symbol UMOD
Entrez Gene ID 7369
Full Name uromodulin
Synonyms ADMCKD2, FJHN, HNFJ, HNFJ1, MCKD2, THGP, THP
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

16

16p12.3
Summary This gene encodes uromodulin, the most abundant protein in normal urine. Its excretion in urine follows proteolytic cleavage of the ectodomain of its glycosyl phosphatidylinosital-anchored counterpart that is situated on the luminal cell surface of the loop of Henle. Uromodulin may act as a constitutive inhibitor of calcium crystallization in renal fluids. Excretion of uromodulin in urine may provide defense against urinary tract infections caused by uropathogenic bacteria. Defects in this gene are associated with the autosomal dominant renal disorders medullary cystic kidney disease-2 (MCKD2) and familial juvenile hyperuricemic nephropathy (FJHN). These disorders are characterized by juvenile onset of hyperuricemia, gout, and progressive renal failure. While several transcript variants may exist for this gene, the full-length natures of only two have been described to date. These two represent the major variants of this gene and encode the same isoform. [provided by RefSeq].
Disorder

MIM: 191845

Hyperuricemic nephropathy, familial juvenile 1, 162000 (3);
mRNA NM_001008389, 56550048
Protein NP_001008390, 56550049
Product uromodulin precursor
RefSeq Status REVIEWED
mRNA NM_003361, 59850811
Protein NP_003352, 59850812
Product uromodulin precursor
RefSeq Status REVIEWED
Homo sapiens (human)UMODNP_001008390.1
Canis lupus familiaris (dog)UMODNP_001003003.1
Bos taurus (cattle)UMODNP_776638.1
Mus musculus (house mouse)UmodNP_033496.1
Rattus norvegicus (Norway rat)UmodNP_058778.1
Process
IDNameEvidence
GO:0006968cellular defense responseTAS
GO:0007588excretionIEA
GO:0008285negative regulation of cell proliferationTAS
GO:0010033response to organic substanceIEA
GO:0048878chemical homeostasisIEA
GO:0072218metanephric ascending thin limb developmentIEA
GO:0072221metanephric distal convoluted tubule developmentIEA
GO:0072233metanephric thick ascending limb developmentIEA
Component
IDNameEvidence
GO:0000922spindle poleIDA
GO:0005576extracellular regionIEA
GO:0005615extracellular spaceIEA
GO:0005794Golgi apparatusIEA
GO:0005886plasma membraneIEA
GO:0016323basolateral plasma membraneIDA
GO:0016324apical plasma membraneIDA
GO:0019898extrinsic to membraneTAS
GO:0031225anchored to membraneIDA
GO:0031410cytoplasmic vesicleIEA
GO:0045121membrane raftIEA
GO:0060170cilium membraneIEA
GO:0072372primary ciliumIDA
Function
IDNameEvidence
GO:0005509calcium ion bindingIEA
GeneCards UMOD
UniProt P07911
MIM 191845
Ensembl ENSG00000169344
HGNC 12559
HPRD 11771

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