APRT Gene
protein-coding GIFtS: 66
GCID: GC16M088875
|
|
adenine phosphoribosyltransferase
| |
Aliases
for APRT gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Adenine Phosphoribosyltransferase1 2 | | AMP Diphosphorylase2 | | EC 2.4.2.73 8 | | AMP Pyrophosphorylase2 | | AMP2 | | Transphosphoribosidase1 | | APRTD2 | | |
Export aliases for APRT gene to outside databasesPrevious GC identifers: GC16P080443 GC16P090104 GC16M088572 GC16M088620 GC16M087403 GC16M074573 |
Summaries
for APRT gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for APRT:
Adenine phosphoribosyltransferase belongs to the purine/pyrimidine phosphoribosyltransferase family. A conservedfeature of this gene is the distribution of CpG dinucleotides. This enzyme catalyzes the formation of AMP andinorganic pyrophosphate from adenine and 5-phosphoribosyl-1-pyrophosphate (PRPP). It also produces adenine as aby-product of the polyamine biosynthesis pathway. A homozygous deficiency in this enzyme causes 2,8-dihydroxyadenineurolithiasis. Two transcript variants encoding different isoforms have been found for this gene. (provided by RefSeq,Jul 2008)
UniProtKB/Swiss-Prot: APT_HUMAN, P07741Function: Catalyzes a salvage reaction resulting in the formation of AMP, that is energically less costly than de novosynthesis
Gene Wiki entry for APRT (Adenine phosphoribosyltransferase)
|
Genomic Views
for APRT gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000016.9 NC_018927.1 NT_010542.15
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the APRT gene promoter:
CREB AP-1 p300
Other transcription factors
Search SABiosciences Chromatin IP Primers for APRT
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat APRT |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 16q24 Ensembl cytogenetic band: 16q24.3 HGNC cytogenetic band: 16q24APRT Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 16 GeneLoc Exon Structure GeneLoc location for GC16M088875: view genomic region
(about GC identifiers)
Start:
|
88,875,747 bp from pter |
End:
|
88,878,352 bp from pter |
Size:
|
2,606 bases |
Orientation:
|
minus strand |
|
Proteins
for APRT gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: APT_HUMAN, P07741 (See
protein sequence)Recommended Name: Adenine phosphoribosyltransferase Size: 180 amino acids; 19608 Da
Subunit: Homodimer
Subcellular location: Cytoplasm
5 PDB 3D structures from  and Proteopedia  for APRT:1OPU (3D)
1ORE (3D)
1ZN7 (3D)
1ZN8 (3D)
1ZN9 (3D)
Secondary accessions: G5E9J2 Q3KP55 Q68DF9Alternative splicing: 2 isoforms: P07741-1 P07741-2 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for APRT: NX_P07741
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_P07741
4/7 DME Specific Peptides for APRT (P07741) (see all 7)
APRT Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (2 alternative transcripts):
NP_000476.1 NP_001025189.1
ENSEMBL proteins: ENSP00000367615 ENSP00000455749 ENSP00000397007 ENSP00000457964 ENSP00000456905 ENSP00000456012 ENSP00000455692 Reactome Protein details: P07741
Human Recombinant Protein Products:
Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table
APRT for ontologies About GeneDecksing
APRT Antibody Products:
Assay Products for APRT: |
Protein
Domains /
Families
for APRT gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
APRT for domains About GeneDecksing
2 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry P07741ProtoNet protein and cluster: P07741 1 Blocks protein family: IPB002375 Purine/pyrimidine phosphoribosyl transferase
UniProtKB/Swiss-Prot: APT_HUMAN, P07741Similarity: Belongs to the purine/pyrimidine phosphoribosyltransferase family |
Function
for APRT gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: APT_HUMAN, P07741Function: Catalyzes a salvage reaction resulting in the formation of AMP, that is energically less costly than de novosynthesisCatalytic activity: AMP + diphosphate = adenine + 5-phospho-alpha-D-ribose 1-diphosphate Genatlas biochemistry entry for APRT:adenine phosphoribosyltransferase,purine salvage pathway
Enzyme Number (IUBMB): EC 2.4.2.71 2
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for APRT (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for APRT (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 2): APRT (NM_001030018) | |  | Sino Biological Human cDNA Clone for APRT | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for APRT | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat APRT |
Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view): About this table
APRT for ontologies About GeneDecksing
1 GenomeRNAi human phenotype for APRT:
Animal Models:
Mouse knock-outs for APRT: Aprttm1Vri Aprttm1Dwm Aprttm1Jat
9 MGI mutant phenotypes (inferred from 3 alleles ) (MGI details for Aprt):
APRT for phenotypes About GeneDecksing
|
Pathways & Interactions
for APRT gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Purine metabolism | | | 2 | Metabolism | | | 3 | ATP/ITP metabolism | | | 4 | adenine and adenosine salvage I | | | 5 | Purine metabolism | |
Pathway sources
See GeneCards unified pathways
Show all pathways
1 EMD Millipore Pathway for APRT
1  GeneGo (Thomson Reuters) Pathway for APRT
1  BioSystems Pathway for APRT
4 
Reactome Pathways for APRT
2 
Kegg Pathways (Kegg details for APRT):
UniProtKB/Swiss-Prot: APT_HUMAN, P07741Pathway: Purine metabolism; AMP biosynthesis via salvage pathway; AMP from adenine: step 1/1
APRT for pathways About GeneDecksing
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for APRT
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
5/132 Interacting proteins for APRT (P077413 ENSP000003676154) via UniProtKB, MINT, STRING, and/or I2D (see all 132)
About this table
Gene Ontology (GO): 5/11 biological process terms (GO ID links to tree view) (see all 11): About this table
APRT for ontologies About GeneDecksing
|
Drugs & Compounds
for APRT gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
APRT for compounds About GeneDecksing
 Browse Tocris compounds for APRT
10 HMDB Compounds for APRT About this table
5 DrugBank Compounds for APRT About this table
10/38 Novoseek chemical compound relationships for APRT gene (see all 38) About this table
| Compound |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| 2,8-dihydroxyadenine |
98.4 |
117 |
8643571 (3), 15196008 (3), 1673292 (3), 8447714 (3) (see all 43) |
| adenine |
94.3 |
391 |
9689017 (5), 8825602 (5), 1767776 (4), 17199504 (4) (see all 99) |
| 8-azaadenine |
89.1 |
2 |
1717694 (1), 9219576 (1) |
| purine |
80.5 |
32 |
17199504 (2), 8499904 (1), 8146608 (1), 18039602 (1) (see all 19) |
| 2,6-diaminopurine |
80.2 |
2 |
1281280 (1), 9067291 (1) |
| prpp |
79.6 |
13 |
14687931 (3), 9689017 (1), 18039602 (1), 19478948 (1) (see all 6) |
| n-acetylgalactosamine 6-sulfate |
75.8 |
4 |
10479485 (2), 8829629 (1) |
| allopurinol |
72.2 |
2 |
8646818 (1), 15077874 (1) |
| hypoxanthine |
66.4 |
5 |
2397107 (2), 8054268 (1), 10629441 (1) |
| ethyl methanesulfonate |
64.2 |
5 |
8692187 (1), 2067528 (1), 7761106 (1) |
Search CenterWatch for drugs/clinical trials and news about APRT / APT
|
Transcripts
for APRT gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for APRT gene (2 alternative transcripts): NM_000485.2 NM_001030018.1 Unigene Cluster for APRT: Adenine phosphoribosyltransferase Hs.28914 [show with all ESTs]Unigene Representative Sequence: BM91482811 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000378364(uc002flw.3 uc002flv.3) ENST00000567713 ENST00000567057
ENST00000426324 ENST00000567391 ENST00000568319 ENST00000563655 ENST00000569616
ENST00000568575 ENST00000562464 ENST00000564858
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for APRT (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for APRT (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector (see all 2): APRT (NM_001030018) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for APRT | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat APRT |
Additional cDNA sequence: BC106894.2 BC106895.2 BC107151.2 CR749423.1 14 DOTS entries: DT.453107 DT.100037717 DT.120655471 DT.95260246 DT.100644308 DT.92435640 DT.92435648 DT.120655478 DT.100798461 DT.100798463 DT.100032978 DT.92435651 DT.95260183 DT.95260202 24/278 AceView cDNA sequences (see all 278): BQ690559 BU790081 BG059482 BQ939825 BU857172 BU552400 BU857487 BE276830 AI057638 BU627342 CA422323 BQ771890 AI420522 BU542609 BU731961 CD674274 BU187975 BU790379 AI628241 BU542811 BE890923 BI908053 N75570 BE279393
GeneLoc Exon Structure
5/9 Alternative Splicing Database (ASD) splice patterns (SP) for APRT (see all 9) About this scheme
| ExUns: | 1a | · | 1b | · | 1c | · | 1d | · | 1e | ^ | 2a | · | 2b | ^ | 3 | ^ | 4a | · | 4b | ^ | 5a | · | 5b | ^ | 6a | · | 6b | · | 6c | · | 6d |
|---|
|
| SP1: | | | | | | | | | | | | | - | | | | - | | | | - | | | | | | | | | | | | |
| SP2: | | | | | | | | | | | | | - | | | | - | | | | - | | - | | | | | | | | | | |
| SP3: | | | | | | | | | | | | | - | | | | - | | | | | | | | | | | | | | | | |
| SP4: | | | | | | | | | | | | | - | | - | | - | | | | - | | - | | | | | | | | | | |
| SP5: | | | | | | | | | | | | | - | | - | | - | | | | - | | | | | | | | | | | |
ECgene alternative splicing isoforms for APRT
|
Expression
for APRT gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| APRT expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AACGCTGCCT
About this image
See APRT Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for APRT
SOURCE GeneReport for Unigene cluster: Hs.28914
SABiosciences Custom PCR Arrays for APRT
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for APRT
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat APRT | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat APRT | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat APRT |
Orthologs
for APRT gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the last universal common ancestor (LUCA).
Orthologs for APRT gene from 11/37 species (see all 37) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
mouse
(Mus musculus) |
Mammalia |
Aprt1 , 5 |
adenine phosphoribosyl transferase1, 5 |
82.22(n)1
82.78(a)1 |
|
8 (71.91 cM)5
118211 NM_009698.21 NP_033828.21
1225746375 |
chicken
(Gallus gallus) |
Aves |
LOC1008571551 |
adenine phosphoribosyltransferase-like |
68.16(n)
68.72(a) |
|
100857155 XM_003641932.1 XP_003641980.1 |
lizard
(Anolis carolinensis) |
Reptilia |
APRT6 |
-- |
63(a) |
1 ↔ 1 |
GL343948.1(78639-86912) |
tropical clawed frog
(Xenopus tropicalis) |
Amphibia |
Str.94922 |
Transcribed sequence with weak similarity to protein more |
75.6(n) |
|
BX724837.1 |
zebrafish
(Danio rerio) |
Actinopterygii |
aprt1 |
adenine phosphoribosyl transferase |
57.25(n)
56.5(a) |
|
393641 NM_200668.1 NP_956962.1 |
fruit fly
(Drosophila melanogaster) |
Insecta |
Aprt1 , 3 |
purine salvage adenine
phosphoribosyltransferase3
Adenine phosphoribosyltransferase1 |
49(a)3
53.82(n)1
47.59(a)1 |
|
3 62B93
482241 NM_057289.21 NP_476637.11 |
worm
(Caenorhabditis elegans) |
Secernentea |
T19B4.31 , 3 |
adenine phosphoribosyltransferase3
Protein T19B4.31 |
45(a)3
50.49(n)1
46.2(a)1 |
|
I(5678643-5679811)3
1722321 NM_059262.61 NP_491663.11 |
baker's yeast
(Saccharomyces cerevisiae) |
Saccharomycetes |
APT11 |
Apt1p |
50.48(n)
46.82(a) |
|
854986 NP_013690.1 |
thale cress
(Arabidopsis thaliana) |
eudicotyledons |
APT11 |
adenine phosphoribosyltransferase 1 |
50.67(n)
42.2(a) |
|
839636 NM_102509.3 NP_564284.1 |
rice
(Oryza sativa) |
Liliopsida |
Os12g05891001 |
hypothetical protein |
52.41(n)
46.24(a) |
|
4352670 NM_001073696.1 NP_001067164.1 |
ENSEMBL Gene Tree for APRT (if available)
TreeFam Gene Tree for APRT (if available) |
Paralogs
for APRT gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| -- |
Genomic Variants
for APRT gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 16 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for APRT (88875747 - 88878352 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 6 variations for APRT
6 CNVs: 59565 30015 59564 4976 30016 4975
Human Gene Mutation Database (HGMD): APRT
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing APRT |
|
Disorders
/ Diseases
for APRT gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
APRT for disorders About GeneDecksing
OMIM gene information: 102600
OMIM disorders: --
UniProtKB/Swiss-Prot: APT_HUMAN, P07741
Defects in APRT are the cause of adenine phosphoribosyltransferase deficiency (APRTD) [MIM:614723]; also knownas 2,8-dihydroxyadenine urolithiasis. An enzymatic deficiency that can lead to urolithiasis and renal failure.Patients have 2,8-dihydroxyadenine (DHA) urinary stones
20/30  diseases for APRT (see all 30): About MalaCardsurolithiasis lesch-nyhan syndrome purine-pyrimidine metabolic disorder purine nucleoside phosphorylase deficiency
nucleoside phosphorylase deficiency adenine phosphoribosyltransferase deficiency xanthinuria metabolic disorders
dihydroxyadeninuria xeroderma pigmentosum sideroblastic anemia ureterolithiasis
mucopolysaccharidosis nephrolithiasis bloom syndrome skin cancer
gout fibrosarcoma candidiasis rheumatoid arthritis
1 disease from the University of Copenhagen DISEASES database for APRT:Lesch-Nyhan syndrome 10/34 Novoseek disease relationships for APRT gene (see all 34) About this table
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| urolithiasis |
82.6 |
39 |
8646818 (2), 2227934 (2), 8455250 (2), 8447714 (2) (see all 22) |
| lesch-nyhan syndrome |
76.6 |
5 |
15258855 (1), 8439471 (1), 8864750 (1), 9824441 (1) (see all 5) |
| purine metabolism disorder |
76.2 |
1 |
1912725 (1) |
| xanthinuria |
72.6 |
3 |
8581129 (1), 12406401 (1) |
| hprt deficiency, partial |
69.2 |
1 |
9824441 (1) |
| nephrolithiasis |
64.6 |
8 |
9689017 (1), 8643571 (1), 12381921 (1), 20064951 (1) (see all 6) |
| morquios syndrome |
61.8 |
2 |
10479485 (1) |
| lithiasis |
59.3 |
13 |
1673292 (3), 11138609 (2), 8191945 (1), 12406401 (1) (see all 6) |
| renal stone |
51 |
9 |
11532086 (2), 16374038 (1), 8643571 (1), 7981585 (1) |
| nephritis interstitial |
47.8 |
3 |
9689017 (1), 15196008 (1) |
Genatlas disease: APRT uro-lithiasis,2.5 dihydroxyadenine
Export disorders for APRT gene to outside databases
|
Publications
for APRT gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for APRT gene, integrated from 9 sources (see all 236):
(articles sorted by number of sources associating them with APRT) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- 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. (PubMed id 17126311)1, 7, 9 Di Pietro V....Tavazzi B. (2007)
- Three-dimensional structure of human adenine phosphoribosyltransferase and its relation to DHA-urolithiasis. (PubMed id 15196008)1, 2, 9 Silva M.... Thiemann O.H. (2004)
- 2,8-Dihydroxyadenine urolithiasis in a patient with considerable residual adenine phosphoribosyltransferase activity in cell extracts but with mutations in both copies of APRT. (PubMed id 11243733)1, 2, 9 Deng L.... Sahota A. (2001)
- Only three mutations account for almost all defective alleles causing adenine phosphoribosyltransferase deficiency in Japanese patients. (PubMed id 1353080)1, 2, 9 Kamatani N.... Kashiwazaki S. (1992)
- Identification of a single missense mutation in the adenine phosphoribosyltransferase (APRT) gene from five Icelandic patients and a British patient. (PubMed id 1746557)1, 2, 9 Chen J.... Tischfield J.A. (1991)
- Identification of two novel mutations in adenine phosphoribosyltransferase gene in patients with 2,8-dihydroxyadenine urolithiasis. (PubMed id 15571218)1, 2, 9 Taniguchi A....Kamatani N. (2004)
- A Japanese boy with adenine phosphoribosyltransferase (APRT) deficiency caused by compound heterozygosity including a novel missense m utation in APRT gene. (PubMed id 21635362)1, 2 Nozue H....Taniguchi A. (2011)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides. (PubMed id 12665801)1, 2 Gevaert K.... Vandekerckhove J. (2003)
- Missense mutation in the adenine phosphoribosyltransferase gene causing 2,8-dihydroxyadenine urolithiasis. (PubMed id 7915931)1, 2 Sahota A.... Tischfield J.A. (1994)
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External Searches for APRT gene
(in PubMed,
OMIM, and NCBI Bookshelf)
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Genome Databases showing APRT gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
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Other Databases showing APRT gene
(According to HUGE)
About This Section
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Specialized Databases showing APRT gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for APRT | Pharmacogenomics, SNPs, Pathways | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/APRT | | NIEHS-SNPs | http://egp.gs.washington.edu/data/aprt/ | | Wikipedia | http://en.wikipedia.org/wiki/Adenine_phosphoribosyltransferase |
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About This Section
| Patent Information for APRT gene:
Search GeneIP for patents involving APRT
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Products
for APRT gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
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| | |  | OriGene Antibodies for APRT | | OriGene shRNA RFP for APRT | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for APRT | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for APRT | | | OriGene Protein Over-expression Lysate for APRT | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for APRT | | OriGene 3'-UTR Clone for APRT | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for APRT | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for APRT | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | OriGene Purified Protein for APRT | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for APRT | | OriGene Custom Protein Services for APRT | | | OriGene Custom Immunoassay Development | | |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat APRT | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing APRT | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat APRT | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat APRT | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat APRT | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat APRT |
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| | | | Search Tocris compounds for APRT |
| |  |  |  |  | | | | | | Recombinant Protein for APRT |
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 | | | APRT Proteins, Antibodies, CLIAs, and ELISAs |
| | | |  |  |  | | | | ThermoFisher Antibody for APRT |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat APRT |
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