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 11 - 20 of 72 in total
DO ID Disease Name Source
DOID:10534 stomach cancer
DOID:1059 intellectual disability
DOID:10923 sickle cell anemia
DOID:11054 urinary bladder cancer
DOID:1107 esophageal carcinoma
DOID:12169 carpal tunnel syndrome
DOID:12241 beta thalassemia
DOID:1227 neutropenia
DOID:12365 malaria
DOID:12971 hereditary spherocytosis
The Human Phenotype Ontology
Displaying entries 21 - 26 of 26 in total
HPO ID HPO Term
HP:0003526 Orotic acid crystalluria
HP:0004447 Poikilocytosis
HP:0004826 Folate-unresponsive megaloblastic anemia
HP:0005435 Impaired T cell function
HP:0008388 Abnormal toenail morphology
HP:0011273 Anisocytosis
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