Version 5.4
Homo sapiens Gene: UMOD
Summary
InnateDB Gene IDBG-18285.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol UMOD
Gene Name uromodulin
Synonyms ADMCKD2; FJHN; HNFJ; HNFJ1; MCKD2; THGP; THP
Species Homo sapiens
Ensembl Gene ENSG00000169344
Encoded Proteins
IDBP-18287
uromodulin
IDBP-238132
uromodulin
IDBP-238134
uromodulin
IDBP-751360
IDBP-748508
IDBP-745893
IDBP-749326
IDBP-750493
IDBP-752785
IDBP-747334
IDBP-752190
IDBP-749530
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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, Jul 2008]
The protein encoded by this gene is the most abundant protein in mammalian urine under physiological conditions. 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. This protein may act as a constitutive inhibitor of calcium crystallization in renal fluids. Excretion of this protein in urine may provide defense against urinary tract infections caused by uropathogenic bacteria. Defects in this gene are associated with the renal disorders medullary cystic kidney disease-2 (MCKD2), glomerulocystic kidney disease with hyperuricemia and isosthenuria (GCKDHI), and familial juvenile hyperuricemic nephropathy (FJHN). Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2013]
Gene Information
Type Protein coding
Genomic Location Chromosome 16:20333052-20356301
Strand Reverse strand
Band p12.3
Transcripts
ENST00000302509 ENSP00000306279
ENST00000396138 ENSP00000379442
ENST00000396134 ENSP00000379438
ENST00000571174 ENSP00000458939
ENST00000577168 ENSP00000459738
ENST00000570757 ENSP00000459724
ENST00000576546 ENSP00000461120
ENST00000576688 ENSP00000461641
ENST00000570331
ENST00000570972 ENSP00000458695
ENST00000570689 ENSP00000460548
ENST00000574195 ENSP00000460845
ENST00000573567 ENSP00000460374
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
Experimentally validated
Total 2 [view]
Protein-Protein 2 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005509 calcium ion binding
GO:0005515 protein binding
GO:0019864 IgG binding
Biological Process
GO:0006968 cellular defense response
GO:0007157 heterophilic cell-cell adhesion
GO:0007159 leukocyte cell-cell adhesion
GO:0007588 excretion
GO:0008285 negative regulation of cell proliferation
GO:0010033 response to organic substance
GO:0048878 chemical homeostasis
GO:0072218 metanephric ascending thin limb development
GO:0072221 metanephric distal convoluted tubule development
GO:0072233 metanephric thick ascending limb development
GO:1990266 neutrophil migration
GO:2000021 regulation of ion homeostasis
Cellular Component
GO:0000922 spindle pole
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0005794 Golgi apparatus
GO:0016323 basolateral plasma membrane
GO:0016324 apical plasma membrane
GO:0019898 extrinsic component of membrane
GO:0031225 anchored component of membrane
GO:0031410 cytoplasmic vesicle
GO:0045121 membrane raft
GO:0045177 apical part of cell
GO:0060170 ciliary membrane
GO:0070062 extracellular vesicular exosome
GO:0072372 primary cilium
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000030963
View Gene Order
ENSBTAG00000006264
Not yet available
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.611617 Hs.654425
RefSeq NM_001008389 NM_001278614 NM_003361 XM_006721085 XM_006721086 XM_006721087 XM_006721088 XM_006721089
HUGO
OMIM
CCDS CCDS10583 CCDS61876
HPRD 11771
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca