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PPAT Gene

protein-coding   GIFtS: 65
GCID: GC04M057259

Phosphoribosyl Pyrophosphate Amidotransferase

  See 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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Aliases
Phosphoribosyl Pyrophosphate Amidotransferase1 2     PRAT2
GPAT2 3 5     amidophosphoribosyltransferase2
Glutamine Phosphoribosylpyrophosphate Amidotransferase2 3     Glutamine Phosphoribosylpyrophosphatate Amidotransferase2
EC 2.4.2.143 8     Glutamine PRPP Amidotransferase2
ATASE2     ATase3

External Ids:    HGNC: 92381   Entrez Gene: 54712   Ensembl: ENSG000001280597   OMIM: 1724505   UniProtKB: Q062033   

Export aliases for PPAT gene to outside databases

Previous GC identifers: GC04M057063 GC04M057221 GC04M057109 GC04M057175 GC04M057100 GC04M056954 GC04M053213


(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 PPAT Gene:
The protein encoded by this gene is a member of the purine/pyrimidine phosphoribosyltransferase family. It is a
regulatory allosteric enzyme that catalyzes the first step of de novo purine nucleotide biosythetic pathway. This
gene and PAICS/AIRC gene, a bifunctional enzyme catalyzing steps six and seven of this pathway, are located in
close proximity on chromosome 4, and divergently transcribed from an intergenic region. (provided by RefSeq, Mar
2011)

GeneCards Summary for PPAT Gene:
PPAT (phosphoribosyl pyrophosphate amidotransferase) is a protein-coding gene. Diseases associated with PPAT include phosphoribosylpyrophosphate synthetase superactivity, and strongyloidiasis. GO annotations related to this gene include 4 iron, 4 sulfur cluster binding and amidophosphoribosyltransferase activity.

Gene Wiki entry for PPAT (Amidophosphoribosyltransferase) 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:
NC_000004.12  NC_018915.2  NT_022853.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the PPAT gene promoter:
         TBP   p53   AML1a   ATF-2   MyoD   AREB6   CP2   STAT3   IRF-7A   RSRFC4   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPPAT promoter sequence
   Search Chromatin IP Primers for PPAT

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PPAT


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 4q12   Ensembl cytogenetic band:  4q12   HGNC cytogenetic band: 4q12

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

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04M057259:  view genomic region     (about GC identifiers)

Start:
57,259,528 bp from pter      End:
57,301,802 bp from pter
Size:
42,275 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: PUR1_HUMAN, Q06203 (See protein sequence)
Recommended Name: Amidophosphoribosyltransferase precursor  
Size: 517 amino acids; 57399 Da
Cofactor: Binds 1 magnesium ion per subunit (By similarity)
Cofactor: Binds 1 4Fe-4S cluster per subunit (By similarity)
Subunit: Homotetramer

Explore the universe of human proteins at neXtProt for PPAT: NX_Q06203

Explore proteomics data for PPAT at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys99, Lys349, Lys372
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for PPAT (Q06203) (see all 9)
     EECGVFG  YFARPDS  LQHRGQE  YVGRTFI 


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

    REFSEQ proteins: NP_002694.3  
    ENSEMBL proteins: 
     ENSP00000264220   ENSP00000423781   ENSP00000425119  
    Reactome Protein details: Q06203

    PPAT Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    4 InterPro protein domains:
     IPR000583 GATase_dom
     IPR017932 GATase_2_dom
     IPR005854 Amd_phspho_trans
     IPR000836 PRibTrfase_dom

    Graphical View of Domain Structure for InterPro Entry Q06203

    ProtoNet protein and cluster: Q06203

    1 Blocks protein domain: IPB002375 Purine/pyrimidine phosphoribosyl transferase

    UniProtKB/Swiss-Prot: PUR1_HUMAN, Q06203
    Similarity: In the C-terminal section; belongs to the purine/pyrimidine phosphoribosyltransferase family
    Similarity: Contains 1 glutamine amidotransferase type-2 domain


    PPAT for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, 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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PUR1_HUMAN, Q06203
    Catalytic activity: 5-phospho-beta-D-ribosylamine + diphosphate + L-glutamate = L-glutamine +
    5-phospho-alpha-D-ribose 1-diphosphate + H(2)O

         Genatlas biochemistry entry for PPAT:
    phosphoribosyl pyrophosphate amidotransferase,catalyzing the first step of the de novo purine biosynthesis

         Enzyme Number (IUBMB): EC 2.4.2.141 2

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004044amidophosphoribosyltransferase activity IEA--
    GO:0046872metal ion binding IEA--
    GO:00515394 iron, 4 sulfur cluster binding IEA--
         
    PPAT for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for PPAT:
     Increased S DNA content 

         1 MGI phenotypic allele for Ppat (no phenotypes)

    PPAT for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PPAT
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PPAT
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PPAT

    miRNA
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    miRTarBase miRNAs that target PPAT:
    hsa-mir-425-5p (MIRT039332), hsa-mir-125b-5p (MIRT005010), hsa-mir-215-5p (MIRT024474), hsa-mir-26b-5p (MIRT030142), hsa-mir-98-5p (MIRT027826), hsa-mir-192-5p (MIRT026845)

    Block miRNA regulation of human, mouse, rat PPAT using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate PPAT (see all 12):
    hsa-miR-299-5p hsa-miR-125a-5p hsa-miR-600 hsa-miR-627 hsa-miR-570 hsa-miR-659 hsa-miR-9 hsa-miR-1276
    SwitchGear 3'UTR luciferase reporter plasmidPPAT 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat PPAT

    Gene Editing
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PPAT


    (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 COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    cytoskeleton2
    mitochondrion2
    nucleus1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol TAS--

    PPAT for ontologies           About GeneDecksing


    (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 PPAT About   (see all 8)  
    See pathways by source

    SuperPathContained pathways About
    1Purine metabolism (REACTOME)
    Purine metabolism0.42
    Purine ribonucleoside monophosphate biosynthesis0.00
    Metabolism of nucleotides0.42
    5-aminoimidazole ribonucleotide biosynthesis0.00
    2Pyrimidine metabolism
    Fluoropyrimidine Activity0.69
    Fluoropyrimidine Pathway, Pharmacokinetics0.69
    3Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    4One carbon pool by folate
    Methotrexate Pathway (Cancer Cell), Pharmacodynamics0.35
    Antimetabolite Pathway - Folate Cycle, Pharmacodynamics0.00
    Thiopurine Pathway, Pharmacokinetics/Pharmacodynamics0.34
    5purine nucleotide salvage
    purine nucleotides de novo biosynthesis0.78

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for PPAT
        AMPK Enzyme Complex Pathway

    3 BioSystems Pathways for PPAT
        Fluoropyrimidine Activity
    purine nucleotides de novo biosynthesis
    5-aminoimidazole ribonucleotide biosynthesis


    1 Reactome Pathway for PPAT
        Purine ribonucleoside monophosphate biosynthesis

    4 PharmGKB Pathways for PPAT
        Antimetabolite Pathway - Folate Cycle, Pharmacodynamics
    Fluoropyrimidine Pathway, Pharmacokinetics
    Methotrexate Pathway (Cancer Cell), Pharmacodynamics
    Thiopurine Pathway, Pharmacokinetics/Pharmacodynamics

    3 Kegg Pathways  (Kegg details for PPAT):
        Purine metabolism
    Alanine, aspartate and glutamate metabolism
    Metabolic pathways

    UniProtKB/Swiss-Prot: PUR1_HUMAN, Q06203
    Pathway: Purine metabolism; IMP biosynthesis via de novo pathway; N(1)-(5-phospho-D-ribosyl)glycinamide from
    5-phospho-alpha-D-ribose 1-diphosphate: step 1/2


    PPAT for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including PPAT: 

              Amino Acid Metabolism I in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for PPAT

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

    Selected Interacting proteins for PPAT (Q062033 ENSP000002642204) via UniProtKB, MINT, STRING, and/or I2D (see all 114)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4AP628053I2D: score=1 
    HIST1H4BP628053I2D: score=1 
    HIST1H4CP628053I2D: score=1 
    HIST1H4DP628053I2D: score=1 
    HIST1H4EP628053I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 20):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000082G1/S transition of mitotic cell cycle IEA--
    GO:0001822kidney development IEA--
    GO:0006144purine nucleobase metabolic process TAS--
    GO:0006164purine nucleotide biosynthetic process TAS8106516
    GO:0006189'de novo' IMP biosynthetic process IEA--

    PPAT for ontologies           About GeneDecksing



    (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 PPAT (PUR1)

    9 HMDB Compounds for PPAT    About this table
    CompoundSynonyms CAS #PubMed Ids
    5-Phosphoribosylamine5-P-beta-D-ribosyl-amine (see all 10)----
    FamotidineAmfamox (see all 83)76824-35-6--
    L-Glutamic acid(2S)-2-Aminopentanedioate (see all 49)56-86-0--
    L-Glutamine(2S)-2,5-diamino-5-oxopentanoic acid (see all 31)56-85-9--
    MagnesiumMagnesium (see all 2)7439-95-4--
    Phosphoribosyl pyrophosphate5-Phospho-a-D-ribose-1-diphosphate (see all 37)7540-64-9--
    Phosphoric acidacide phosphorique (FRENCH) (see all 20)7664-38-2--
    Pyrophosphate(4-)Diphosphoric acid ion (see all 10)14000-31-8--
    WaterDihydrogen oxide (see all 2)7732-18-5--

    2 DrugBank Compounds for PPAT    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    L-Glutamine(S)-2,5-diamino-5-oxopentanoic acid (see all 4)56-85-9targetproduct of17355124 17355125
    Fluorouracil5-Fluorouracil (see all 6)51-21-8enzymesubstrate--

    Selected Novoseek inferred chemical compound relationships for PPAT gene (see all 32)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hatpa 92.8 2 10557052 (1), 9725988 (1)
    phosphoribosylamine 91.5 3 7532005 (2)
    o6-benzylguanine 90.8 42 8129725 (3), 8512814 (3), 9815932 (2), 8908500 (2) (see all 16)
    cb 10277 89.9 5 1464162 (3), 8033139 (2)
    mitozolomide 87.2 8 1312399 (3), 1419626 (2), 8512814 (1)
    prpp 85.5 12 11290738 (2), 8314584 (1), 1311306 (1), 15566465 (1) (see all 8)
    fotemustine 85 14 1824685 (3), 9516937 (2), 8512821 (1), 8431354 (1) (see all 7)
    o(6)-methyldeoxyguanosine 85 14 11448648 (2), 8180013 (2), 8033139 (2)
    chloroethyl nitrosoureas 81.3 8 8761416 (2), 9815932 (2)
    temozolomide 74.6 21 10647496 (4), 8512814 (3), 8123472 (3), 7828668 (3) (see all 8)



    PPAT for compounds           About GeneDecksing



    (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for PPAT gene: 
    NM_002703.4  

    Unigene Cluster for PPAT:

    Phosphoribosyl pyrophosphate amidotransferase
    Hs.331420  [show with all ESTs]
    Unigene Representative Sequence: AB209246
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000264220(uc003hbr.3) ENST00000425339 ENST00000507648 ENST00000510643
    ENST00000507724
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate PPAT (see all 12):
    hsa-miR-299-5p hsa-miR-125a-5p hsa-miR-600 hsa-miR-627 hsa-miR-570 hsa-miR-659 hsa-miR-9 hsa-miR-1276
    SwitchGear 3'UTR luciferase reporter plasmidPPAT 3' UTR sequence
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    GenScript: all cDNA clones in your preferred vector: PPAT (NM_002703)
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      QuantiTect SYBR Green Assays in human, mouse, rat PPAT
      QuantiFast Probe-based Assays in human, mouse, rat PPAT

    Additional mRNA sequence: 

    AB209246.1 AK222759.1 AK290942.1 AK312297.1 BC004200.2 D13757.1 U00238.1 

    11 DOTS entries:

    DT.95340067  DT.95268423  DT.453889  DT.40281814  DT.121644170  DT.121267351  DT.121267393  DT.100818463 
    DT.100885672  DT.121267343  DT.97815824 

    Selected AceView cDNA sequences (see all 196):

    AL527871 BC004200 CR592110 F07938 AW008472 BF476510 AU142764 AA829629 
    AU103390 BU181806 CD657552 N28807 D13757 BU165960 BX282402 NM_002703 
    CB044540 CR599321 BQ000651 CA421287 CR596411 AI146356 AA826427 BQ229606 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for PPAT (see all 7)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14a · 14b
    SP1:                          -                 -     -     -                 -                       -                           
    SP2:                          -                 -     -     -                                                                     
    SP3:                                            -     -     -                                                                     
    SP4:                          -                 -           -                                                                     
    SP5:                          -                 -     -                                                                           


    ECgene alternative splicing isoforms for PPAT

    (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)
    About This Section

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    PPAT expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCCTTTTACT
    PPAT Expression
    About this image


    PPAT expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Neural Tube (Nervous System)
             Telencephalon
     
     Brain (Nervous System)
             Cerebral Cortex
    PPAT Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PPAT Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.331420

    UniProtKB/Swiss-Prot: PUR1_HUMAN, Q06203
    Tissue specificity: Ubiquitously expressed

        Pathway & Disease-focused RT2 Profiler PCR Array including PPAT: 
              Amino Acid Metabolism I in human mouse rat

    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PPAT

    (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 PPAT gene from Selected species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ppat1 , 5 phosphoribosyl pyrophosphate amidotransferase1, 5 85.94(n)1
    93.04(a)1
      5 (41.45 cM)5
    2313271  NM_172146.21  NP_742158.11 
     769132495 
    chicken
    (Gallus gallus)
    Aves PPAT1 phosphoribosyl pyrophosphate amidotransferase 78.06(n)
    84.39(a)
      422743  NM_001004401.1  NP_001004401.1 
    lizard
    (Anolis carolinensis)
    Reptilia PPAT6
    phosphoribosyl pyrophosphate amidotransferase
    82(a)
    1 ↔ 1
    5(105341137-105357016)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC686942 hypothetical protein MGC68694 76.06(n)    BC060430.1 
    zebrafish
    (Danio rerio)
    Actinopterygii ppat1 phosphoribosyl pyrophosphate amidotransferase 68.96(n)
    74.61(a)
      572027  NM_001082877.2  NP_001076346.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta Prat3
    Prat21
    'de novo' IMP biosynthesis
    amidophosphoribosyltransferase3
    Phosphoribosylamidotransferase 21
    60(a)
    (best of 2)3
    60.01(n)1
    65.43(a)1
      84E53
    387531  NM_079225.31  NP_523949.21 
    worm
    (Caenorhabditis elegans)
    Secernentea T04A8.53
    CELE_T04A8.51
    Amidophosphoribosyltransferase3
    CELE_T04A8.51
    46(a)3
    56.07(n)1
    50.21(a)1
      III(4761135-4763868)3
    1756131  NM_065557.61  NP_497958.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ADE4(YMR300C)4 Phosphoribosylpyrophosphate amidotransferase (PRPPAT; more   --   13(867091-865559) 855346  NP_014029.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons ASE11 ASE1 51.23(n)
    44.3(a)
      816156  NM_127208.1  NP_179247.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PPAT gene

    PPAT for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for PPAT
    PGOHUM00000237672 PGOHUM00000241410


    (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)
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    Selected SNPs for PPAT (see all 793)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2004810941,2
    C--53253105(+) AAAAA-/AT/T  
            
    CAAGA
    1 -- int10--------
    rs1852688641,2
    --57259093(+) TTTCAA/CTTAGT 1 -- ds50010--------
    rs1901485061,2
    --57259198(+) TTTATC/GTATTC 1 -- ds50010--------
    rs1458830751,2
    --57259229(+) ACTTTA/GAATCT 1 -- ds50010--------
    rs780244421,2
    C,F--57259261(+) TCCCTC/TTTTCC 1 -- ds50011Minor allele frequency- T:0.14WA 118
    rs1489740301,2
    C--57259293(+) TGCCAC/TGATGT 1 -- ds50010--------
    rs10604721,2
    C,F,H--57259465(+) CCATGC/ATGTTT 1 -- ds500132Minor allele frequency- A:0.21NA NS EA WA 3332
    rs1437659381,2
    C--57259492(+) TAAAGC/TCACTA 1 -- ds50010--------
    rs345195511,2
    C--57259501(+) TATTT-/A/AA  
            
    AAAAA
    1 -- ds50010--------
    rs37965481,2
    C,F,A,H--57259856(+) GAAAAC/TGCAAA 1 -- ut31 ese315Minor allele frequency- T:0.12NS EA NA WA 1976

    HapMap Linkage Disequilibrium report for PPAT (57259528 - 57301802 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for PPAT:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv4347CNV Loss18451855
    nsv829940CNV Gain17160897

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

    (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: 172450    OMIM disorders: --

    Selected diseases for PPAT (see all 24):    
    About MalaCards
    phosphoribosylpyrophosphate synthetase superactivity    strongyloidiasis    lesch-nyhan syndrome    malignant glioma
    schistosomiasis    thrombocytopenia    hepatoblastoma    medulloblastoma
    melanoma    ovarian cancer    hepatocellular carcinoma    insulin resistance
    pneumonia    hepatitis b    rheumatoid arthritis    tuberculosis
    arthritis    breast cancer    hepatitis    lung cancer

    1 disease from the University of Copenhagen DISEASES database for PPAT:
    Lesch-Nyhan syndrome

    PPAT for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for PPAT gene (see all 15)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    metastatic melanoma 31.8 1 8033139 (1)
    melanoma 26.5 6 1464162 (2), 10647496 (2), 15867241 (1), 1824685 (1)
    glioma 24.6 8 9052400 (2), 8625471 (2)
    malignant glioma 18.7 1 11508814 (1)
    hodgkin disease 3.08 2 8343274 (1)
    brain tumors 0.483 1 9516937 (1)
    leukemia 0 1 7773147 (1)
    cancer lung 0 4 10428203 (2), 7960235 (1)
    breast cancer 0 2 9209662 (2)
    hepatocellular carcinoma 0 1 8903364 (1)


    Export disorders for PPAT 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 PPAT gene, integrated from 10 sources (see all 127):
    (articles sorted by number of sources associating them with PPAT)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning of human amidophosphoribosyltransferase. (PubMed id 8380692)1, 2, 9 Iwahana H.... Itakura M. (Biochem. Biophys. Res. Commun. 1993)
    2. Two genes for de novo purine nucleotide synthesis on human chromosome 4 are closely linked and divergently transcribed. (PubMed id 8106516)1, 2, 9 Brayton K.A.... Zalkin H. (J. Biol. Chem. 1994)
    3. 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)
    4. Role of NRF-1 in bidirectional transcription of the human GPAT-AIRC purine biosynthesis locus. (PubMed id 9108165)1, 9 Chen S....Zalkin H. (Nucleic Acids Res. 1997)
    5. Interdomain signaling in glutamine phosphoribosylpyrophosphate amidotransferase. (PubMed id 10593947)1, 9 Bera A.K....Zalkin H. (J. Biol. Chem. 1999)
    6. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    7. Development and application of a DNA microarray-based yeast two-hybrid system. (PubMed id 23275563)1 Suter B....Wanker E.E. (Nucleic Acids Res. 2013)
    8. Deubiquitinase FAM/USP9X interacts with the E3 ubiquitin ligase SMURF1 protein and protects it from ligase activity-dependent self-degradation. (PubMed id 23184937)1 Xie Y....Cong F. (J. Biol. Chem. 2013)
    9. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)
    10. A high-throughput approach for measuring temporal changes in the interactome. (PubMed id 22863883)1 Kristensen A.R....Foster L.J. (Nat. Methods 2012)

    (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: 5471 HGNC: 9238 AceView: PPAT Ensembl:ENSG00000128059 euGenes: HUgn5471
    ECgene: PPAT Kegg: 5471 H-InvDB: PPAT

    (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 PPAT Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for PPAT gene:
    Search GeneIP for patents involving PPAT

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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