uromodulin

Summary
Gene Symbol
  • UMOD
Aliases
  • Tamm-Horsfall glycoprotein
  • uromucoid
Organism
Homo sapiens (human)
NCBI Gene
7369
HGNC
12559
KEGG Gene ID
hsa:7369
PubChem
7369
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Alternative splicing
  • Cell membrane
  • Ciliopathy
  • Cilium
  • Direct protein sequencing
  • Disease variant
  • Disulfide bond
  • EGF-like domain
  • GPI-anchor
  • Innate immunity
  • Nephronophthisis
  • Reference proteome
  • Repeat
  • Secreted
  • Signal
Proteins
Displaying 1 entry
UniProt Protein Name
P07911
  • Tamm-Horsfall urinary glycoprotein
Gene Ontology (GO)
GO Hierarchy
OrthoDB (Group)
Group level
Eukaryota
Group Name
uncharacterized protein
Functional Category
  • E: Amino acid transport and metabolism
  • G: Carbohydrate transport and metabolism
  • O: Posttranslational modification, protein turnover, chaperones
Displaying 1 entry
Gene Ontology
calcium ion binding
KEGG BRITE Database
Orthology
K18274
Name
uromodulin
References
Disease
The Human Phenotype Ontology
Displaying all 10 entries
HPO ID HPO Term
HP:0000006 Autosomal dominant inheritance
HP:0000083 Renal insufficiency
HP:0000092 Renal tubular atrophy
HP:0000112 Nephropathy
HP:0000123 Nephritis
HP:0001997 Gout
HP:0002149 Hyperuricemia
HP:0003621 Juvenile onset
HP:0003676 Progressive
HP:0012213 Decreased glomerular filtration rate
Displaying 1 entry
Disease ID Disease Name
OMIM:162000
  • familial juvenile hyperuricemic nephropathy type 1

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024