Property Summary

NCBI Gene PubMed Count 48
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 2.8e-06
atypical teratoid / rhabdoid tumor 1.100 8.7e-05
medulloblastoma, large-cell 1.300 1.5e-03
tuberculosis 1.100 7.3e-09
lung cancer 1.100 7.6e-03

Protein-protein Interaction (1)

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.
21269460 2011 Initial characterization of the human central proteome.
20458337 MHC class II-associated proteins in B-cell exosomes and potential functional implications for exosome biogenesis.
19608861 2009 Lysine acetylation targets protein complexes and co-regulates major cellular functions.
19413330 2009 Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.
19399589 2009 The phosphorylation status of membrane-bound nucleoside diphosphate kinase in epithelia and the role of AMP.
19369195 2009 Large-scale proteomics analysis of the human kinome.
19056867 2009 Large-scale proteomics and phosphoproteomics of urinary exosomes.
18399692 2008 Structural complexes of human adenine phosphoribosyltransferase reveal novel features of the APRT catalytic mechanism.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
17353931 2007 Large-scale mapping of human protein-protein interactions by mass spectrometry.
17126311 2007 Clinical, 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.
16130169 2005 Proteomics of human umbilical vein endothelial cells applied to etoposide-induced apoptosis.
15616553 2004 The sequence and analysis of duplication-rich human chromosome 16.
15571218 2004 Identification of two novel mutations in adenine phosphoribosyltransferase gene in patients with 2,8-dihydroxyadenine urolithiasis.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15196008 2004 Three-dimensional structure of human adenine phosphoribosyltransferase and its relation to DHA-urolithiasis.
14674717 2003 APRT from erythrocytes of HGPRT deficient patients: kinetic, regulatory and thermostability properties.
12665801 2003 Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11243733 2001 2,8-Dihydroxyadenine urolithiasis in a patient with considerable residual adenine phosphoribosyltransferase activity in cell extracts but with mutations in both copies of APRT.
10937693 2000 Induced activity of adenine phosphoribosyltransferase (APRT) in iron-deficiency barley roots: a possible role for phytosiderophore production.
10481956 1999 Radiopaque 2,8-dihydroxyadenine lithiasis.
10479485 1999 Combined adenine phosphoribosyltransferase and N-acetylgalactosamine-6-sulfate sulfatase deficiency.
10369268 1999 DNA methylation represses transcription in vivo.
9521589 1998 A germline mutation abolishing the original stop codon of the human adenine phosphoribosyltransferase (APRT) gene leads to complete loss of the enzyme protein.
9298830 1997 Human APRT deficiency: indication for multiple origins of the most common Caucasian mutation and detection of a novel type of mutation involving intrastrand-templated repair.
8889579 1996 Identification and application of polymorphisms flanking the human adenine phosphoribosyltransferase gene.
8882882 1996 The origin of the most common mutation of adenine phosphoribosyltransferase among Japanese goes back to a prehistoric era.
8455250 1993 A case of a compound heterozygote for adenine phosphoribosyltransferase deficiency (APRT*J/APRT*Q0) leading to 2,8-dihydroxyadenine urolithiasis: review of the reported cases with 2,8-dihydroxyadenine stones in Japan.
7915931 1994 Missense mutation in the adenine phosphoribosyltransferase gene causing 2,8-dihydroxyadenine urolithiasis.
7685481 1993 Analysis of germline and in vivo somatic mutations in the human adenine phosphoribosyltransferase gene: mutational hot spots at the intron 4 splice donor site and at codon 87.
7660991 1994 Germline and somatic mutation at the APRT locus of mice and man.
3684585 1987 Nucleotide sequence of the human APRT gene.
3680503 1987 Human adenine phosphoribosyltransferase. Identification of allelic mutations at the nucleotide level as a cause of complete deficiency of the enzyme.
3554238 1987 Comparative anatomy of the human APRT gene and enzyme: nucleotide sequence divergence and conservation of a nonrandom CpG dinucleotide arrangement.
3531209 1986 Human adenine phosphoribosyltransferase. Complete amino acid sequence of the erythrocyte enzyme.
3343350 1988 Human adenine phosphoribosyltransferase deficiency. Demonstration of a single mutant allele common to the Japanese.
2502918 1989 Detection of an amino acid substitution in the mutant enzyme for a special type of adenine phosphoribosyltransferase (APRT) deficiency by sequence-specific protein cleavage.
2227951 1990 Crossovers within a short DNA sequence indicate a long evolutionary history of the APRT*J mutation.
2135300 1990 Identification of a splice mutation at the adenine phosphoribosyltransferase locus in a German family.
2067530 1991 Polymerase chain reaction amplification and sequence analysis of human mutant adenine phosphoribosyltransferase genes: the nature and frequency of errors caused by Taq DNA polymerase.
1985452 1991 A mutant allele common to the type I adenine phosphoribosyltransferase deficiency in Japanese subjects.
1746557 1991 Identification of a single missense mutation in the adenine phosphoribosyltransferase (APRT) gene from five Icelandic patients and a British patient.
1353080 1992 Only three mutations account for almost all defective alleles causing adenine phosphoribosyltransferase deficiency in Japanese patients.
869896 1977 Adenine phosphoribosyltransferase: a simple spectrophotometric assay and the incidence of mutation in the normal population.
457664 1979 Human adenine phosphoribosyltransferase. Affinity purification, subunit structure, amino acid composition, and peptide mapping.
116697 1979 Enzymes of the purine interconversion system in chronic lymphatic leukemia: decreased purine nucleoside phosphorylase and adenosine deaminase activity.