adenine phosphoribosyltransferase

Summary
Gene Symbol
  • APRT
Organism
Homo sapiens (human)
External Links
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 6 in total
GO Term Evidence Code PMID
adenine salvage
grooming behavior
GMP salvage
AMP salvage
IMP salvage
GO Hierarchy
GO Hierarchy
Disease
Disease Ontology
Displaying entries 31 - 40 of 485 in total
DO ID Disease Name Source
DOID:0060689 atrichia with papular lesions
DOID:0060868 leukoencephalopathy with vanishing white matter
DOID:0060891 Parkinson's disease 19A
DOID:0060895 Parkinson's disease 4
DOID:0060896 Parkinson's disease 23
DOID:0070247 autosomal dominant Emery-Dreifuss muscular dystrophy 2
DOID:0070322 childhood hepatocellular carcinoma
DOID:0070328 adult hepatocellular carcinoma
DOID:0080031 fibrous dysplasia
DOID:0080053 Albright's hereditary osteodystrophy
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: August 19, 2024