APRT (adenine phosphoribosyltransferase)

2007-04-01  

Identity

HGNC
LOCATION
16q24.3
LOCUSID
ALIAS
AMP,APRTD
FUSION GENES

Other Information

Locus ID:

NCBI: 353
MIM: 102600
HGNC: 626
Ensembl: ENSG00000198931

Variants:

dbSNP: 353
ClinVar: 353
TCGA: ENSG00000198931
COSMIC: APRT

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000198931ENST00000378364P07741
ENSG00000198931ENST00000426324P07741
ENSG00000198931ENST00000563655H3BQZ9
ENSG00000198931ENST00000567391H3BSW3
ENSG00000198931ENST00000567713H3BQF1
ENSG00000198931ENST00000568319H3BSW3
ENSG00000198931ENST00000569616H3BQB1

Expression (GTEx)

0
50
100
150
200
250
300

Pathways

PathwaySourceExternal ID
Purine metabolismKEGGko00230
Purine metabolismKEGGhsa00230
Metabolic pathwaysKEGGhsa01100
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
MetabolismREACTOMER-HSA-1430728
Metabolism of nucleotidesREACTOMER-HSA-15869
Purine metabolismREACTOMER-HSA-73847
Purine salvageREACTOMER-HSA-74217
Neutrophil degranulationREACTOMER-HSA-6798695

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
193995892009The phosphorylation status of membrane-bound nucleoside diphosphate kinase in epithelia and the role of AMP.9
249863592014Adenine phosphoribosyltransferase (APRT) deficiency: identification of a novel nonsense mutation.5
151960082004Three-dimensional structure of human adenine phosphoribosyltransferase and its relation to DHA-urolithiasis.4
171263112007Clinical, biochemical and molecular diagnosis of a compound homozygote for the 254 bp deletion-8 bp insertion of the APRT gene suffering from severe renal failure.4
183996922008Structural complexes of human adenine phosphoribosyltransferase reveal novel features of the APRT catalytic mechanism.3
257354322015A thymine-adenine dinucleotide repeat polymorphism near IL28B is associated with spontaneous clearance of hepatitis C virus.2
146747172003APRT from erythrocytes of HGPRT deficient patients: kinetic, regulatory and thermostability properties.1
301044012018A pan-cancer study of the transcriptional regulation of uricogenesis in human tumours: pathological and pharmacological correlates.1
311603232019Structural basis for substrate selectivity and nucleophilic substitution mechanisms in human adenine phosphoribosyltransferase catalyzed reaction.1
155712182004Identification of two novel mutations in adenine phosphoribosyltransferase gene in patients with 2,8-dihydroxyadenine urolithiasis.0

Citation

Dessen P

APRT (adenine phosphoribosyltransferase)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/47016/aprt