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 1 - 10 of 485 in total
DO ID Disease Name Source
DOID:0014667 disease of metabolism
DOID:0040085 bacterial sepsis
DOID:0050387 nonpapillary renal cell carcinoma
DOID:0050437 Danon disease
DOID:0050451 Brugada syndrome
DOID:0050471 Carney complex
DOID:0050523 adult T-cell leukemia/lymphoma
DOID:0050524 maturity-onset diabetes of the young
DOID:0050557 congenital muscular dystrophy
DOID:0050646 distal arthrogryposis
The Human Phenotype Ontology
Displaying entries 11 - 20 of 24 in total
HPO ID HPO Term
HP:0001919 Acute kidney injury
HP:0001942 Metabolic acidosis
HP:0002027 Abdominal pain
HP:0003259 Elevated circulating creatinine concentration
HP:0003621 Juvenile onset
HP:0003774 Stage 5 chronic kidney disease
HP:0005110 Atrial fibrillation
HP:0011463 Childhood onset
HP:0011848 Abdominal colic
HP:0012379 Abnormal circulating enzyme concentration or activity
Displaying all 2 entries
Disease ID Disease Name
OMIM:614723
  • adenine phosphoribosyltransferase deficiency
ORPHA:976
  • adenine phosphoribosyltransferase deficiency

About Release Notes Help Feedback

International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International


GlyCosmos Portal v4.0.0

Last updated: August 19, 2024