adenine phosphoribosyltransferase

Summary
Gene Symbol
  • APRT
Organism
Homo sapiens (human)
NCBI Gene
353
HGNC
626
PubChem
353
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Acetylation
  • Alternative splicing
  • Cytoplasm
  • Direct protein sequencing
  • Disease variant
  • Glycosyltransferase
  • Phosphoprotein
  • Purine salvage
  • Reference proteome
Proteins
Displaying 1 entry
UniProt Protein Name
P07741
Gene Ontology (GO)
Displaying entries 1 - 5 of 7 in total
GO Term Evidence Code PMID
purine ribonucleoside salvage
adenine salvage
grooming behavior
GMP salvage
IMP salvage
GO Hierarchy
GO Hierarchy
OrthoDB (Group)
Group level
Eukaryota
Group Name
adenine_phosphoribosyltransferase
Functional Category
  • E: Amino acid transport and metabolism
  • G: Carbohydrate transport and metabolism
  • T: Signal transduction mechanisms
Disease
Disease Ontology
Displaying 1 entry
DO ID Disease Name Source
DOID:0060350 adenine phosphoribosyltransferase deficiency
The Human Phenotype Ontology
Displaying entries 1 - 10 of 24 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0000010 Recurrent urinary tract infections
HP:0000016 Urinary retention
HP:0000019 Urinary hesitancy
HP:0000083 Renal insufficiency
HP:0000093 Proteinuria
HP:0000787 Nephrolithiasis
HP:0000790 Hematuria
HP:0000791 Uric acid nephrolithiasis
HP:0000822 Hypertension
Displaying all 2 entries
Disease ID Disease Name
OMIM:614723
  • adenine phosphoribosyltransferase deficiency
ORPHA:976
  • adenine phosphoribosyltransferase deficiency

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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: April 7, 2025