Property Summary

NCBI Gene PubMed Count 48
Grant Count 130
R01 Count 49
Funding $24,616,151.87
PubMed Score 222.39
PubTator Score 504.67

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (5)

Disease log2 FC p
osteosarcoma -1.940 0.000
atypical teratoid / rhabdoid tumor 1.100 0.000
medulloblastoma, large-cell 1.300 0.001
tuberculosis 1.100 0.000
lung cancer 1.100 0.008

Synonym

Accession P07741 G5E9J2 Q3KP55 Q68DF9 APRT
Symbols AMP
APRTD

Gene

PDB

1OPU   1ORE   1ZN7   1ZN8   1ZN9   4X44   4X45  

Gene RIF (9)

PMID Text
25735432 A long TA repeat in the promoter region of IL28B was associated with spontaneous HCV clearance.
24986359 A new mutation, p.Gln147X, in APRT gene, was found in a patient with adenine phosphoribosyltransferase deficiency.
21635362 Case study of 2 year old Japanese boy with APRT deficiency. Genetic analysis showed compound heterozygote APRT*J and missense mutation L33P. APRT deficiency should be suspected in patients with radiolucent kidney stones and urinary 2,8-DHA crystals.
19399589 The phosphorylation status of membrane-bound nucleoside diphosphate kinase in epithelia and the role of AMP are reported.
18399692 Data indicates that the flexible loop structure adopts an open conformation before and after binding of both substrates adenine and phosphoribosyl pyrophosphate.
17126311 APRT assay in a sample of patient hemolysate showed no detectable activity of the enzyme (25.56+/-9.55 U/L red blood cells in control healthy subjects).
15571218 two novel mutations, G133D and V84M, were found in the APRT gene in Japanese patients with APRT deficiency
15196008 determination of structure and examination of role of deficiency in DHA-urolithiasis
14674717 kinetic, regulatory and thermostability properties of APRT from erythrocytes of HGPRT deficient patients

AA Sequence

MADSELQLVEQRIRSFPDFPTPGVVFRDISPVLKDPASFRAAIGLLARHLKATHGGRIDYIAGLDSRGFL      1 - 70
FGPSLAQELGLGCVLIRKRGKLPGPTLWASYSLEYGKAELEIQKDALEPGQRVVVVDDLLATGGTMNAAC     71 - 140
ELLGRLQAEVLECVSLVELTSLKGREKLAPVPFFSLLQYE                                  141 - 180
//

Text Mined References (58)

PMID Year Title
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25735432 2015 A thymine-adenine dinucleotide repeat polymorphism near IL28B is associated with spontaneous clearance of hepatitis C virus.
24986359 2014 Adenine phosphoribosyltransferase (APRT) deficiency: identification of a novel nonsense mutation.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23533145 2013 In-depth proteomic analyses of exosomes isolated from expressed prostatic secretions in urine.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22814378 2012 N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.
22223895 2012 Comparative large scale characterization of plant versus mammal proteins reveals similar and idiosyncratic N-?-acetylation features.
21635362 2011 A Japanese boy with adenine phosphoribosyltransferase (APRT) deficiency caused by compound heterozygosity including a novel missense mutation in APRT gene.
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