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 1 - 10 of 26 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0000069 Abnormality of the ureter
HP:0000316 Hypertelorism
HP:0000368 Low-set, posteriorly rotated ears
HP:0000431 Wide nasal bridge
HP:0000494 Downslanted palpebral fissures
HP:0000790 Hematuria
HP:0001263 Global developmental delay
HP:0001385 Hip dysplasia
HP:0001508 Failure to thrive
Displaying all 2 entries
Disease ID Disease Name
OMIM:258900
  • orotic aciduria
ORPHA:30
  • orotic aciduria
PubChem Disease
MedGen Diseases
OMIM Phenotypes
KEGG Diseases
Ortholog
Displaying entry 81 - 81 of 81 in total
Species Gene ID Alliance of Genome Resources Orthologous MAtrix
115608877 STRHB04109

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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