uridine monophosphate synthetase

Summary
Gene Symbol
  • UMPS
Aliases
  • orotate phosphoribosyl transferase and orotidine-5'-decarboxylase
Organism
Homo sapiens (human)
External Links
NCBI Gene
7372
HGNC
12563
PubChem
7372
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Acetylation
  • Alternative splicing
  • Decarboxylase
  • Disease variant
  • Glycosyltransferase
  • Multifunctional enzyme
  • Phosphoprotein
  • Pyrimidine biosynthesis
  • Reference proteome
  • Transferase
Proteins
Displaying all 2 entries
UniProt Protein Name
A8K5J1
P11172
Gene Ontology (GO)
GO Hierarchy
Disease
Disease Ontology
Displaying entries 1 - 10 of 72 in total
DO ID Disease Name Source
DOID:12987 agranulocytosis
DOID:399 tuberculosis
DOID:0014667 disease of metabolism
DOID:0050590 severe congenital neutropenia
DOID:0050833 orotic aciduria
DOID:0050865 tongue squamous cell carcinoma
DOID:0080199 colorectal carcinoma
DOID:10241 thalassemia
DOID:10283 prostate cancer
DOID:10286 prostate carcinoma
The Human Phenotype Ontology
Displaying entries 11 - 20 of 26 in total
HPO ID HPO Term
HP:0001629 Ventricular septal defect
HP:0001631 Atrial septal defect
HP:0001643 Patent ductus arteriosus
HP:0001744 Splenomegaly
HP:0001903 Anemia
HP:0002205 Recurrent respiratory infections
HP:0003218 Oroticaciduria
HP:0003267 Reduced orotidine 5-prime phosphate decarboxylase level
HP:0003339 Pyrimidine-responsive megaloblastic anemia
HP:0003355 Aminoaciduria
Displaying all 2 entries
Disease ID Disease Name
OMIM:258900
  • orotic aciduria
ORPHA:30
  • orotic aciduria
PubChem Disease
MedGen Diseases
OMIM Phenotypes
KEGG Diseases

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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: August 19, 2024