Bos taurus Gene: BT.65955 | |||||||||||||||||||
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Summary | |||||||||||||||||||
InnateDB Gene | IDBG-637933.3 | ||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||
Gene Symbol | BT.65955 | ||||||||||||||||||
Gene Name | uromodulin precursor | ||||||||||||||||||
Synonyms | |||||||||||||||||||
Species | Bos taurus | ||||||||||||||||||
Ensembl Gene | ENSBTAG00000006264 | ||||||||||||||||||
Encoded Proteins |
uromodulin precursor
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Protein Structure | |||||||||||||||||||
Useful resources | Stemformatics EHFPI ImmGen | ||||||||||||||||||
Entrez Gene | |||||||||||||||||||
Summary |
This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000169344:
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] |
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Gene Information | |||||||||||||||||||
Type | Protein coding | ||||||||||||||||||
Genomic Location | Chromosome 25:18124563-18143260 | ||||||||||||||||||
Strand | Reverse strand | ||||||||||||||||||
Band | |||||||||||||||||||
Transcripts |
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Interactions | |||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
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Gene Ontology | |||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Orthologs | |||||||||||||||||||
Species
Homo sapiens
Mus musculus
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Gene ID
Gene Order
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Cross-References | |||||||||||||||||||
SwissProt | |||||||||||||||||||
TrEMBL | F1MCQ0 | ||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||
Entrez Gene | 281567 | ||||||||||||||||||
UniGene | Bt.65955 | ||||||||||||||||||
RefSeq | NM_174213 | ||||||||||||||||||
HUGO | |||||||||||||||||||
OMIM | |||||||||||||||||||
CCDS | |||||||||||||||||||
HPRD | |||||||||||||||||||
IMGT | |||||||||||||||||||
EMBL | DAAA02057632 DAAA02057633 | ||||||||||||||||||
GenPept | |||||||||||||||||||
RNA Seq Atlas | 281567 | ||||||||||||||||||