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 41 - 50 of 485 in total
DO ID Disease Name Source
DOID:0080070 mucolipidosis II alpha/beta
DOID:0080092 myofibrillar myopathy 1
DOID:0080094 myofibrillar myopathy 3
DOID:0080144 childhood acute lymphocytic leukemia
DOID:0080199 colorectal carcinoma
DOID:0080324 tuberous sclerosis 1
DOID:0080326 familial hypertrophic cardiomyopathy
DOID:0080348 Alzheimer's disease 1
DOID:0090053 episodic kinesigenic dyskinesia 1
DOID:0090103 Huntington's disease-like 1
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