Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 353
MIM: 102600
HGNC: 626
Ensembl: ENSG00000198931
Variants:
dbSNP: 353
ClinVar: 353
TCGA: ENSG00000198931
COSMIC: APRT
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36433728 | 2023 | Amp(1q) and tetraploidy are commonly acquired chromosomal abnormalities in relapsed multiple myeloma. | 3 |
| 36433728 | 2023 | Amp(1q) and tetraploidy are commonly acquired chromosomal abnormalities in relapsed multiple myeloma. | 3 |
| 33707627 | 2021 | Allele frequency of variants reported to cause adenine phosphoribosyltransferase deficiency. | 2 |
| 33707627 | 2021 | Allele frequency of variants reported to cause adenine phosphoribosyltransferase deficiency. | 2 |
| 31160323 | 2019 | Structural basis for substrate selectivity and nucleophilic substitution mechanisms in human adenine phosphoribosyltransferase catalyzed reaction. | 0 |
| 31160323 | 2019 | Structural basis for substrate selectivity and nucleophilic substitution mechanisms in human adenine phosphoribosyltransferase catalyzed reaction. | 0 |
| 30104401 | 2018 | A pan-cancer study of the transcriptional regulation of uricogenesis in human tumours: pathological and pharmacological correlates. | 5 |
| 30104401 | 2018 | A pan-cancer study of the transcriptional regulation of uricogenesis in human tumours: pathological and pharmacological correlates. | 5 |
| 25735432 | 2015 | A thymine-adenine dinucleotide repeat polymorphism near IL28B is associated with spontaneous clearance of hepatitis C virus. | 3 |
| 25735432 | 2015 | A thymine-adenine dinucleotide repeat polymorphism near IL28B is associated with spontaneous clearance of hepatitis C virus. | 3 |
| 24986359 | 2014 | Adenine phosphoribosyltransferase (APRT) deficiency: identification of a novel nonsense mutation. | 0 |
| 24986359 | 2014 | Adenine phosphoribosyltransferase (APRT) deficiency: identification of a novel nonsense mutation. | 0 |
| 21635362 | 2011 | A Japanese boy with adenine phosphoribosyltransferase (APRT) deficiency caused by compound heterozygosity including a novel missense mutation in APRT gene. | 0 |
| 21635362 | 2011 | A Japanese boy with adenine phosphoribosyltransferase (APRT) deficiency caused by compound heterozygosity including a novel missense mutation in APRT gene. | 0 |
| 19399589 | 2009 | The phosphorylation status of membrane-bound nucleoside diphosphate kinase in epithelia and the role of AMP. | 9 |
Citation
Dessen P
APRT (adenine phosphoribosyltransferase)
Atlas Genet Cytogenet Oncol Haematol. 2007-04-01
Online version: http://atlasgeneticsoncology.org/gene/47016/aprt-(adenine-phosphoribosyltransferase)
