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APRT Gene

protein-coding   GIFtS: 70
GCID: GC16M088875

Adenine Phosphoribosyltransferase

  See APRT-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Adenine Phosphoribosyltransferase1 2     AMP Diphosphorylase2
EC 2.4.2.73 8     AMP Pyrophosphorylase2
APRTD2 5     transphosphoribosidase2
AMP2     

External Ids:    HGNC: 6261   Entrez Gene: 3532   Ensembl: ENSG000001989317   OMIM: 1026005   UniProtKB: P077413   
ORGUL members:         

Export aliases for APRT gene to outside databases

Previous GC identifers: GC16P080443 GC16P090104 GC16M088572 GC16M088620 GC16M087403 GC16M074573


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for APRT Gene:
Adenine phosphoribosyltransferase belongs to the purine/pyrimidine phosphoribosyltransferase family. A conserved
feature of this gene is the distribution of CpG dinucleotides. This enzyme catalyzes the formation of AMP and
inorganic pyrophosphate from adenine and 5-phosphoribosyl-1-pyrophosphate (PRPP). It also produces adenine as a
by-product of the polyamine biosynthesis pathway. A homozygous deficiency in this enzyme causes
2,8-dihydroxyadenine urolithiasis. Two transcript variants encoding different isoforms have been found for this
gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for APRT Gene:
APRT (adenine phosphoribosyltransferase) is a protein-coding gene. Diseases associated with APRT include dihydroxyadeninuria, and adenine phosphoribosyltransferase deficiency. GO annotations related to this gene include adenine phosphoribosyltransferase activity and AMP binding.

UniProtKB/Swiss-Prot: APT_HUMAN, P07741
Function: Catalyzes a salvage reaction resulting in the formation of AMP, that is energically less costly than de
novo synthesis

Gene Wiki entry for APRT (Adenine phosphoribosyltransferase) 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000016.9  NC_018927.2  NT_010498.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the APRT gene promoter:
         CREB   AP-1   p300   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidAPRT promoter sequence
   Search Chromatin IP Primers for APRT

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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: 16q24

APRT Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
APRT gene location

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

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: APT_HUMAN, P07741 (See protein sequence)
Recommended Name: Adenine phosphoribosyltransferase  
Size: 180 amino acids; 19608 Da
Subunit: Homodimer
5 PDB 3D structures from and Proteopedia for APRT:
1OPU (3D)        1ORE (3D)        1ZN7 (3D)        1ZN8 (3D)        1ZN9 (3D)    
Secondary accessions: G5E9J2 Q3KP55 Q68DF9
Alternative splicing: 2 isoforms:  P07741-1   P07741-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for APRT: NX_P07741

Explore proteomics data for APRT at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys34, Lys167
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for APRT (P07741) (see all 7)
     SYSLEYG  GKLPGPT  LKGREKL  DDLLATGG 


    See APRT Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_000476.1  NP_001025189.1  

    ENSEMBL proteins: 
     ENSP00000367615   ENSP00000455749   ENSP00000397007   ENSP00000457964   ENSP00000456905  
     ENSP00000456012   ENSP00000455692  
    Reactome Protein details: P07741

    APRT Human Recombinant Protein Products:

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    Novus Biologicals APRT Proteins
    Novus Biologicals APRT Lysates
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    ProSpec Recombinant Protein for APRT
    Cloud-Clone Corp. Proteins for APRT

     
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    antibodies-online proteins for APRT (18 products) 

     
    antibodies-online peptides for APRT

    APRT Antibody Products:

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    antibodies-online antibodies for APRT (46 products) 

    APRT Assay Products:

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    antibodies-online kits for APRT (10 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR005764 Ade_phspho_trans
     IPR000836 PRibTrfase_dom

    Graphical View of Domain Structure for InterPro Entry P07741

    ProtoNet protein and cluster: P07741

    1 Blocks protein domain: IPB002375 Purine/pyrimidine phosphoribosyl transferase

    UniProtKB/Swiss-Prot: APT_HUMAN, P07741
    Similarity: Belongs to the purine/pyrimidine phosphoribosyltransferase family


    Find genes that share domains with APRT           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: APT_HUMAN, P07741
    Function: Catalyzes a salvage reaction resulting in the formation of AMP, that is energically less costly than de
    novo synthesis
    Catalytic 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

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002055adenine binding IEA--
    GO:0003999adenine phosphoribosyltransferase activity TAS--
    GO:0016208AMP binding IDA15196008
    GO:0016740transferase activity ----
         
    Find genes that share ontologies with APRT           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for APRT:
     Increased cell number in G1, s 

         9 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Aprt):
     behavior/neurological  growth/size/body  hematopoietic system  homeostasis/metabolism  immune system 
     integument  mortality/aging  renal/urinary system  reproductive system 

    Find genes that share phenotypes with APRT           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for APRT: Aprttm1Vri Aprttm1Dwm Aprttm1Jat

       genOway: Develop your customized and physiologically relevant rodent model for APRT

    miRNA
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    miRTarBase miRNAs that target APRT:
    hsa-mir-10a-5p (MIRT047618), hsa-mir-484 (MIRT042286), hsa-mir-324-3p (MIRT042963), hsa-mir-15b-5p (MIRT046502), hsa-let-7b-5p (MIRT032354)

    Block miRNA regulation of human, mouse, rat APRT using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate APRT
    SwitchGear 3'UTR luciferase reporter plasmidAPRT 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat APRT

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector (see all 2): APRT (NM_001030018)
    Sino Biological Human cDNA Clone for APRT
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for APRT


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    APT_HUMAN, P07741: Cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    nucleus4
    mitochondrion2
    extracellular1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm TAS16130169
    GO:0005829cytosol TAS--
    GO:0070062extracellular vesicular exosome IDA19056867

    Find genes that share ontologies with APRT           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for APRT About    
    See pathways by source

    SuperPathContained pathways About
    1Purine metabolism (REACTOME)
    Purine metabolism0.42
    adenine and adenosine salvage I0.00
    Metabolism of nucleotides0.42
    Purine salvage0.00
    2Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    3Purine metabolism (KEGG)
    Purine metabolism0.38
    ATP ITP metabolism0.31
    4purine nucleotide salvage
    purine nucleotide salvage0.78


    Find genes that share SuperPaths with APRT           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for APRT
        ATP/ITP metabolism

    2 BioSystems Pathways for APRT
        purine nucleotide salvage
    adenine and adenosine salvage I


    1 Reactome Pathway for APRT
        Purine salvage


    2 Kegg Pathways  (Kegg details for APRT):
        Purine metabolism
    Metabolic pathways

    UniProtKB/Swiss-Prot: APT_HUMAN, P07741
    Pathway: Purine metabolism; AMP biosynthesis via salvage pathway; AMP from adenine: step 1/1

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for APRT
    Interactions:

        GeneGlobe Interaction Network for APRT

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for APRT (P077413 ENSP000003676154) via UniProtKB, MINT, STRING, and/or I2D (see all 139)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    MCTS1Q9ULC43, ENSP000003603654I2D: score=5 STRING: ENSP00000360365
    ADAP008133, ENSP000003619654I2D: score=1 STRING: ENSP00000361965
    ADSLP305663, ENSP000002161944I2D: score=1 STRING: ENSP00000216194
    ADSSL1Q8N1423, ENSP000003330194I2D: score=1 STRING: ENSP00000333019
    GH1P012413, ENSP000003126734I2D: score=1 STRING: ENSP00000312673
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006144purine nucleobase metabolic process TAS--
    GO:0006166purine ribonucleoside salvage IEA--
    GO:0006168adenine salvage IEA--
    GO:0007595lactation IEA--
    GO:0007625grooming behavior IEA--

    Find genes that share ontologies with APRT           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for APRT (APT)

    10 HMDB Compounds for APRT    About this table
    CompoundSynonyms CAS #PubMed Ids
    5-Aminoimidazole-4-carboxamide4-Amino-5-Imidazolecarboxamide (see all 13)360-97-4--
    AICAR5'-P-ribosyl-5-amino-4-imidazole carboxamide (see all 6)3031-94-5--
    Adenine1,6-Dihydro-6-iminopurine (see all 19)73-24-5--
    Adenosine monophosphate5'-AMP (see all 28)61-19-8--
    GuanineGUN (see all 26)73-40-5--
    Guanosine monophosphate5'-GMP (see all 14)85-32-5--
    Phosphoribosyl pyrophosphate5-Phospho-a-D-ribose-1-diphosphate (see all 37)7540-64-9--
    Phosphoric acidacide phosphorique (FRENCH) (see all 20)7664-38-2--
    PropranololDociton (see all 8)525-66-6--
    Pyrophosphate(4-)Diphosphoric acid ion (see all 10)14000-31-8--

    5 DrugBank Compounds for APRT    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Adenine1H-Purin-6-amine (see all 5)73-24-5target--17126311 17064924 16845529 10592235 17199504 16597468
    9-Deazaadenine-- --target--10592235
    Adenosine monophosphate5'-Adenosine monophosphate (see all 15)61-19-8enzymesubstrate17199504
    Alpha-Phosphoribosylpyrophosphoric Acid-- 13270-65-0target--10592235
    Citric Acid-- 77-92-9target--10592235

    Selected Novoseek inferred 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)



    Find genes that share compounds with APRT           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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: BM914828
    11 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
    miRNA
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      QuantiFast Probe-based Assays in human, mouse, rat APRT

    Additional mRNA 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 

    Selected AceView cDNA sequences (see all 278):

    BQ219678 CD365360 AW407105 BU542609 BM759901 BE386596 BU948691 AA463956 
    BU790379 BU543878 BU542811 BU685191 BE890923 BQ939825 BM468778 CA422323 
    BI908053 BE279393 AA284948 BU552400 BQ690559 BU627342 BE563261 CD674274 

    GeneLoc Exon Structure

    Selected 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

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    APRT expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AACGCTGCCT
    APRT Expression
    About this image


    APRT expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
     
     Bone (Muscoskeletal System)
             Membranous Facial Bones
     
     Eye (Sensory Organs)
             Lens
     
     Neural Tube (Nervous System)
             Telencephalon
     
     Brain (Nervous System)
             Cerebral Cortex
    APRT Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    APRT Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.28914
        Custom PCR Arrays for APRT
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for APRT

    (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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for APRT gene from Selected species (see all 23)    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 APRT1 adenine phosphoribosyltransferase 68.34(n)
    68.72(a)
      100857155  NM_001277647.1  NP_001264576.1 
    lizard
    (Anolis carolinensis)
    Reptilia APRT6
    adenine phosphoribosyltransferase
    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
    53.03(n)1
    46.59(a)1
      3 62B93
    482241  NM_057289.21  NP_476637.11 
    worm
    (Caenorhabditis elegans)
    Secernentea T19B4.31 , 3 adenine phosphoribosyltransferase3
    T19B4.31
    45(a)3
    50.49(n)1
    46.2(a)1
      I(5678643-5679811)3
    1722321  NM_059262.71  NP_491663.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes APT11 APT1 50.19(n)
    46.55(a)
      854986   NP_013690.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons APT11 APT1 50.67(n)
    42.2(a)
      839636  NM_102509.3  NP_564284.1 
    rice
    (Oryza sativa)
    Liliopsida Os12g05891001 Os12g0589100 52.19(n)
    45.71(a)
      4352670  NM_001073696.1  NP_001067164.1 


    ENSEMBL Gene Tree for APRT (if available)
    TreeFam Gene Tree for APRT (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

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    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

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    Selected SNPs for APRT (see all 206)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs289991131,2,,4
    CAdenine phosphoribosyltransferase deficiency (APRTD)4 pathogenic189876714(-) AACCAC/TGAACG 3 T M mis1 int1 ese30--------
    rs2003927531,2,,4
    Adenine phosphoribosyltransferase deficiency (APRTD)4 --89877374(+) GAGCAC/TGCAGC 4 M V mis10--------
    VAR_0226084
    Adenine phosphoribosyltransferase deficiency (APRTD)4--see VAR_0226082 V F mis40--------
    VAR_0226094
    Adenine phosphoribosyltransferase deficiency (APRTD)4--see VAR_0226092 C R mis40--------
    VAR_0690494
    Adenine phosphoribosyltransferase deficiency (APRTD)4--see VAR_0690492 L P mis40--------
    VAR_0690514
    Adenine phosphoribosyltransferase deficiency (APRTD)4--see VAR_0690512 G D mis40--------
    VAR_0067484
    Adenine phosphoribosyltransferase deficiency (APRTD)4--see VAR_0067482 L P mis40--------
    VAR_0067474
    Adenine phosphoribosyltransferase deficiency (APRTD)4--see VAR_0067472 D V mis40--------
    rs1048945081,2
    Cpathogenic189877021(-) TGAGCT/CGGAGA 4 /P /L mis11Minor allele frequency- C:0.00NA 4548
    rs1048945071,2
    Cpathogenic189877330(-) CTGTGA/GGCCTC 4 * W stg10--------

    HapMap Linkage Disequilibrium report for APRT (88875747 - 88878352 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for APRT (see all 27):    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv37n68CNV Loss17160897
    dgv2995n71CNV Loss21882294
    nsv907278CNV Loss21882294
    nsv907268CNV Loss21882294
    nsv907336CNV Loss21882294
    dgv2991n71CNV Loss21882294
    nsv521217CNV Loss19592680
    nsv907226CNV Loss21882294
    nsv907322CNV Loss21882294
    dgv2988n71CNV Loss21882294

    Human Gene Mutation Database (HGMD): APRT
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing APRT
    DNA2.0 Custom Variant and Variant Library Synthesis for APRT

    (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.)
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    OMIM gene information: 102600   
    OMIM disorders: 614723  
    UniProtKB/Swiss-Prot: APT_HUMAN, P07741
  • Adenine phosphoribosyltransferase deficiency (APRTD) [MIM:614723]: An enzymatic deficiency that can lead
    to urolithiasis and renal failure. Patients have 2,8-dihydroxyadenine (DHA) urinary stones. Note=The disease is
    caused by mutations affecting the gene represented in this entry

  • 8 diseases for APRT:    
    About MalaCards
    dihydroxyadeninuria    adenine phosphoribosyltransferase deficiency    lesch-nyhan syndrome    purine nucleoside phosphorylase deficiency
    ureterolithiasis    gout    fibrosarcoma    nephrolithiasis

    6 diseases from the University of Copenhagen DISEASES database for APRT:
    Lesch-Nyhan syndrome     Nephrolithiasis     Gout     Hyperuricemia
    Kidney failure     Purine nucleoside phosphorylase deficiency

    Find genes that share disorders with APRT           About GenesLikeMe

    Selected Novoseek inferred 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

    (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)
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    PubMed articles for APRT gene, integrated from 10 sources (see all 246):
    (articles sorted by number of sources associating them with APRT)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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. (Clin. Biochem. 2007)
    2. Three-dimensional structure of human adenine phosphoribosyltransferase and its relation to DHA-urolithiasis. (PubMed id 15196008)1, 2, 9 Silva M.... Thiemann O.H. (Biochemistry 2004)
    3. 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. (Mol. Genet. Metab. 2001)
    4. 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. (J. Clin. Invest. 1992)
    5. 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. (Am. J. Hum. Genet. 1991)
    6. 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. (Nucleosides Nucleotides Nucleic Acids 2004)
    7. A Japanese boy with adenine phosphoribosyltransferase (APRT) deficiency caused by compound heterozygosity including a novel missense mutation in APRT gene. (PubMed id 21635362)1, 2 Nozue H.... Taniguchi A. (Acta Paediatr. 2011)
    8. 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. (Genome Res. 2004)
    9. Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides. (PubMed id 12665801)1, 2 Gevaert K.... Vandekerckhove J. (Nat. Biotechnol. 2003)
    10. Missense mutation in the adenine phosphoribosyltransferase gene causing 2,8-dihydroxyadenine urolithiasis. (PubMed id 7915931)1, 2 Sahota A.... Tischfield J.A. (Hum. Mol. Genet. 1994)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 353 HGNC: 626 AceView: APRT Ensembl:ENSG00000198931 euGenes: HUgn353
    ECgene: APRT Kegg: 353 H-InvDB: APRT

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for APRT Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=APRT[genesymbol]
    NIEHS-SNPshttp://egp.gs.washington.edu/data/aprt/
    Wikipedia http://en.wikipedia.org/wiki/Adenine_phosphoribosyltransferase

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    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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