Human Gene PPAT (ENST00000264220.6_7) from GENCODE V47lift37
  Description: phosphoribosyl pyrophosphate amidotransferase, transcript variant 2 (from RefSeq NR_156493.2)
Gencode Transcript: ENST00000264220.6_7
Gencode Gene: ENSG00000128059.8_9
Transcript (Including UTRs)
   Position: hg19 chr4:57,259,528-57,301,781 Size: 42,254 Total Exon Count: 11 Strand: -
Coding Region
   Position: hg19 chr4:57,261,518-57,301,643 Size: 40,126 Coding Exon Count: 11 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr4:57,259,528-57,301,781)mRNA (may differ from genome)Protein (517 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: PUR1_HUMAN
DESCRIPTION: RecName: Full=Amidophosphoribosyltransferase; Short=ATase; EC=2.4.2.14; AltName: Full=Glutamine phosphoribosylpyrophosphate amidotransferase; Short=GPAT; Flags: Precursor;
CATALYTIC ACTIVITY: 5-phospho-beta-D-ribosylamine + diphosphate + L-glutamate = L-glutamine + 5-phospho-alpha-D-ribose 1-diphosphate + H(2)O.
COFACTOR: Binds 1 magnesium ion per subunit (By similarity).
COFACTOR: Binds 1 4Fe-4S cluster per subunit (By similarity).
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.
SUBUNIT: Homotetramer.
TISSUE SPECIFICITY: Ubiquitously expressed.
SIMILARITY: In the C-terminal section; belongs to the purine/pyrimidine phosphoribosyltransferase family.
SIMILARITY: Contains 1 glutamine amidotransferase type-2 domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: PPAT
Diseases sorted by gene-association score: phosphoribosylpyrophosphate synthetase superactivity (11), purine-pyrimidine metabolic disorder (6)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 14.36 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 129.64 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -64.00138-0.464 Picture PostScript Text
3' UTR -465.001990-0.234 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR005854 - Amd_phspho_trans
IPR017932 - GATase_2_dom
IPR000583 - GATase_dom
IPR000836 - PRibTrfase_dom

Pfam Domains:
PF00156 - Phosphoribosyl transferase domain
PF13230 - Glutamine amidotransferases class-II
PF13522 - Glutamine amidotransferase domain
PF13537 - Glutamine amidotransferase domain

SCOP Domains:
53271 - PRTase-like
56235 - N-terminal nucleophile aminohydrolases (Ntn hydrolases)

ModBase Predicted Comparative 3D Structure on Q06203
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologGenome BrowserGenome Browser
Gene DetailsGene Details Gene DetailsGene DetailsGene Details
Gene SorterGene Sorter Gene SorterGene SorterGene Sorter
 RGDEnsembl WormBaseSGD
    Protein SequenceProtein Sequence
    AlignmentAlignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003824 catalytic activity
GO:0004044 amidophosphoribosyltransferase activity
GO:0016740 transferase activity
GO:0016757 transferase activity, transferring glycosyl groups
GO:0046872 metal ion binding
GO:0051536 iron-sulfur cluster binding
GO:0051539 4 iron, 4 sulfur cluster binding

Biological Process:
GO:0000082 G1/S transition of mitotic cell cycle
GO:0001822 kidney development
GO:0006164 purine nucleotide biosynthetic process
GO:0006189 'de novo' IMP biosynthetic process
GO:0006541 glutamine metabolic process
GO:0006543 glutamine catabolic process
GO:0007595 lactation
GO:0008152 metabolic process
GO:0009113 purine nucleobase biosynthetic process
GO:0009116 nucleoside metabolic process
GO:0009168 purine ribonucleoside monophosphate biosynthetic process
GO:0019693 ribose phosphate metabolic process
GO:0031100 animal organ regeneration
GO:0032869 cellular response to insulin stimulus
GO:0035690 cellular response to drug
GO:0042493 response to drug
GO:0051289 protein homotetramerization
GO:0060135 maternal process involved in female pregnancy

Cellular Component:
GO:0005829 cytosol


-  Descriptions from all associated GenBank mRNAs
  U00238 - Homo sapiens glutamine PRPP amidotransferase (GPAT) mRNA, complete cds.
BC004200 - Homo sapiens phosphoribosyl pyrophosphate amidotransferase, mRNA (cDNA clone MGC:3674 IMAGE:3533162), complete cds.
D13757 - Homo sapiens mRNA for amidophosphoribosyltransferase, complete cds.
AK290942 - Homo sapiens cDNA FLJ78123 complete cds, highly similar to Homo sapiens phosphoribosyl pyrophosphate amidotransferase (PPAT), mRNA.
AK222759 - Homo sapiens mRNA for phosphoribosyl pyrophosphate amidotransferase proprotein variant, clone: HEP00145.
DQ893484 - Synthetic construct clone IMAGE:100006114; FLH194066.01X; RZPDo839F0179D phosphoribosyl pyrophosphate amidotransferase (PPAT) gene, encodes complete protein.
AK312297 - Homo sapiens cDNA, FLJ92602, highly similar to Homo sapiens phosphoribosyl pyrophosphate amidotransferase (PPAT), mRNA.
KJ897361 - Synthetic construct Homo sapiens clone ccsbBroadEn_06755 PPAT gene, encodes complete protein.
DQ896410 - Synthetic construct Homo sapiens clone IMAGE:100010870; FLH194062.01L; RZPDo839F0169D phosphoribosyl pyrophosphate amidotransferase (PPAT) gene, encodes complete protein.
AB590152 - Synthetic construct DNA, clone: pFN21AE1388, Homo sapiens PPAT gene for phosphoribosyl pyrophosphate amidotransferase, without stop codon, in Flexi system.
CU678610 - Synthetic construct Homo sapiens gateway clone IMAGE:100020295 5' read PPAT mRNA.
AB209246 - Homo sapiens mRNA for phosphoribosyl pyrophosphate amidotransferase proprotein variant protein.
JD333701 - Sequence 314725 from Patent EP1572962.
JD159525 - Sequence 140549 from Patent EP1572962.
LF358817 - JP 2014500723-A/166320: Polycomb-Associated Non-Coding RNAs.
JD551189 - Sequence 532213 from Patent EP1572962.
JD312830 - Sequence 293854 from Patent EP1572962.
JD362576 - Sequence 343600 from Patent EP1572962.
JD216433 - Sequence 197457 from Patent EP1572962.
JD239146 - Sequence 220170 from Patent EP1572962.
JD089870 - Sequence 70894 from Patent EP1572962.
JD268522 - Sequence 249546 from Patent EP1572962.
JD358796 - Sequence 339820 from Patent EP1572962.
LF358818 - JP 2014500723-A/166321: Polycomb-Associated Non-Coding RNAs.
LF358819 - JP 2014500723-A/166322: Polycomb-Associated Non-Coding RNAs.
JD165358 - Sequence 146382 from Patent EP1572962.
JD292275 - Sequence 273299 from Patent EP1572962.
LF358820 - JP 2014500723-A/166323: Polycomb-Associated Non-Coding RNAs.
JD554505 - Sequence 535529 from Patent EP1572962.
LF358821 - JP 2014500723-A/166324: Polycomb-Associated Non-Coding RNAs.
JD347266 - Sequence 328290 from Patent EP1572962.
LF358822 - JP 2014500723-A/166325: Polycomb-Associated Non-Coding RNAs.
LF358823 - JP 2014500723-A/166326: Polycomb-Associated Non-Coding RNAs.
LF358825 - JP 2014500723-A/166328: Polycomb-Associated Non-Coding RNAs.
LF358826 - JP 2014500723-A/166329: Polycomb-Associated Non-Coding RNAs.
LF358828 - JP 2014500723-A/166331: Polycomb-Associated Non-Coding RNAs.
MA594394 - JP 2018138019-A/166320: Polycomb-Associated Non-Coding RNAs.
MA594395 - JP 2018138019-A/166321: Polycomb-Associated Non-Coding RNAs.
MA594396 - JP 2018138019-A/166322: Polycomb-Associated Non-Coding RNAs.
MA594397 - JP 2018138019-A/166323: Polycomb-Associated Non-Coding RNAs.
MA594398 - JP 2018138019-A/166324: Polycomb-Associated Non-Coding RNAs.
MA594399 - JP 2018138019-A/166325: Polycomb-Associated Non-Coding RNAs.
MA594400 - JP 2018138019-A/166326: Polycomb-Associated Non-Coding RNAs.
MA594402 - JP 2018138019-A/166328: Polycomb-Associated Non-Coding RNAs.
MA594403 - JP 2018138019-A/166329: Polycomb-Associated Non-Coding RNAs.
MA594405 - JP 2018138019-A/166331: Polycomb-Associated Non-Coding RNAs.
LF358833 - JP 2014500723-A/166336: Polycomb-Associated Non-Coding RNAs.
JD071786 - Sequence 52810 from Patent EP1572962.
MA594410 - JP 2018138019-A/166336: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  BioCyc Knowledge Library
PWY-6121 - 5-aminoimidazole ribonucleotide biosynthesis
PWY-841 - purine nucleotides de novo biosynthesis

Reactome (by CSHL, EBI, and GO)

Protein Q06203 (Reactome details) participates in the following event(s):

R-HSA-111285 Formation of phosphoribosyl pyrophosphate amidotransferase tetramer
R-HSA-111289 Dissociation of phosphoribosyl pyrophosphate amidotransferase tetramer
R-HSA-73815 5-phospho-alpha-D-ribose 1-diphosphate (PRPP) + H2O + L-glutamine <=> 5-phosphoribosylamine + L-glutamate +pyrophosphate
R-HSA-73817 Purine ribonucleoside monophosphate biosynthesis
R-HSA-8956320 Nucleobase biosynthesis
R-HSA-15869 Metabolism of nucleotides
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000264220.1, ENST00000264220.2, ENST00000264220.3, ENST00000264220.4, ENST00000264220.5, GPAT , NR_156493, PUR1_HUMAN, Q06203, uc317hqg.1, uc317hqg.2
UCSC ID: ENST00000264220.6_7
RefSeq Accession: NM_002703.5
Protein: Q06203 (aka PUR1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.