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PPAT Gene(Protein Coding)

Phosphoribosyl Pyrophosphate Amidotransferase

GCID:
GC04M056393
GIFtS:
53
Genes Participants
UDN Logo

Aliases for PPAT Gene

Aliases for PPAT Gene

  • Phosphoribosyl Pyrophosphate Amidotransferase 2 3 5
  • Glutamine Phosphoribosylpyrophosphate Amidotransferase 3 4
  • EC 2.4.2.14 4 56
  • ATASE 3 4
  • GPAT 3 4
  • Glutamine Phosphoribosylpyrophosphatate Amidotransferase 3
  • Glutamine PRPP Amidotransferase 3
  • Amidophosphoribosyltransferase 3
  • PRAT 3

External Ids for PPAT Gene

Previous GeneCards Identifiers for PPAT Gene

  • GC04M057063
  • GC04M057221
  • GC04M057109
  • GC04M057175
  • GC04M057100
  • GC04M056954
  • GC04M057259
  • GC04M053213

Summaries for PPAT Gene

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 Purine-Pyrimidine Metabolic Disorder. Among its related pathways are One carbon pool by folate and Metabolism. Gene Ontology (GO) annotations related to this gene include 4 iron, 4 sulfur cluster binding and amidophosphoribosyltransferase activity.

Gene Wiki entry for PPAT Gene

Additional gene information for PPAT Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PPAT Gene

Genomics for PPAT Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for PPAT Gene

Promoters and enhancers for PPAT Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH04I056433 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 550.8 -0.2 -226 4.8 CLOCK MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 GC04P056437 PPAT PAICS GC04P056436 SRP72 CEP135 AASDH POLR2B RN7SKP30 ENSG00000269921
GH04I056465 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 11.9 -31.5 -31514 4.3 HDGF PKNOX1 SMAD1 ARNT ARID4B SIN3A FEZF1 YY1 POLR2B FOS SRP72 GC04M056462 AASDH PAICS PPAT SPINK2 ENSG00000251799 ARL9
GH04I056408 Enhancer 1 Ensembl ENCODE 11.9 +25.2 25219 2.9 PKNOX1 FOXA2 ARNT NEUROD1 SIN3A BMI1 ZBTB40 YY1 FOS ZNF362 LOC100506514 SRP72 AASDH PPAT PAICS ENSG00000269921 ENSG00000251799 SPINK2
GH04I056799 Enhancer 1 Ensembl ENCODE 10.6 -364.5 -364498 1.5 ATF1 SIN3A IRF4 ZNF48 RAD21 YY1 ZNF335 ZNF143 ATF7 BCLAF1 SPINK2 PAICS PPAT POLR2B NOA1 SRP72 REST ENSG00000269949 LOC105377668 GC04P056807
GH04I056836 Enhancer 0.8 Ensembl ENCODE 10.3 -401.2 -401164 0.4 CTCF ZNF654 TRIM22 REST ATF2 RAD21 ZNF143 HMBOX1 SMC3 RUNX3 SRP72 REST HOPX PAICS PPAT AASDH SPINK2 GC04P056899
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PPAT on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PPAT gene promoter:

Genomic Locations for PPAT Gene

Genomic Locations for PPAT Gene
chr4:56,393,362-56,435,636
(GRCh38/hg38)
Size:
42,275 bases
Orientation:
Minus strand
chr4:57,259,528-57,301,802
(GRCh37/hg19)

Genomic View for PPAT Gene

Genes around PPAT on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PPAT Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PPAT Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for PPAT Gene

Proteins for PPAT Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for PPAT Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q06203-PUR1_HUMAN
    Recommended name:
    Amidophosphoribosyltransferase
    Protein Accession:
    Q06203

    Protein attributes for PPAT Gene

    Size:
    517 amino acids
    Molecular mass:
    57399 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Cofactor:
    Name=[4Fe-4S] cluster; Xref=ChEBI:CHEBI:49883;
    Quaternary structure:
    • Homotetramer.

neXtProt entry for PPAT Gene

Protein Expression for PPAT Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for PPAT Gene

Q06203:
  • RLRQLGVAKKFG
  • YGNRPLCIG
  • EECGVFG
  • GHCTACLTG
  • YVGRTFI
  • EVHIRVASP
  • YFARPDS
  • LQHRGQE
  • FEYVYFAR

Post-translational modifications for PPAT Gene

  • Ubiquitination at Lys99, isoforms=349, and isoforms=372

Other Protein References for PPAT Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for PPAT Gene

Gene Families for PPAT Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for PPAT Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for PPAT Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q06203

UniProtKB/Swiss-Prot:

PUR1_HUMAN :
  • In the C-terminal section; belongs to the purine/pyrimidine phosphoribosyltransferase family.
Family:
  • In the C-terminal section; belongs to the purine/pyrimidine phosphoribosyltransferase family.
genes like me logo Genes that share domains with PPAT: view

Function for PPAT Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for PPAT Gene

GENATLAS Biochemistry:
phosphoribosyl pyrophosphate amidotransferase,catalyzing the first step of the de novo purine biosynthesis
UniProtKB/Swiss-Prot CatalyticActivity:
5-phospho-beta-D-ribosylamine + diphosphate + L-glutamate = L-glutamine + 5-phospho-alpha-D-ribose 1-diphosphate + H(2)O.

Enzyme Numbers (IUBMB) for PPAT Gene

Phenotypes From GWAS Catalog for PPAT Gene

Gene Ontology (GO) - Molecular Function for PPAT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0004044 amidophosphoribosyltransferase activity TAS --
GO:0016740 transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with PPAT: view
genes like me logo Genes that share phenotypes with PPAT: view

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PPAT Gene

Localization for PPAT Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PPAT gene
Compartment Confidence
cytosol 5
cytoskeleton 2
mitochondrion 2
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Midbody ring (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PPAT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with PPAT: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for PPAT Gene

Pathways & Interactions for PPAT Gene

genes like me logo Genes that share pathways with PPAT: view

UniProtKB/Swiss-Prot Q06203-PUR1_HUMAN

  • 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.

Gene Ontology (GO) - Biological Process for PPAT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000082 G1/S transition of mitotic cell cycle IEA --
GO:0001822 kidney development IEA --
GO:0006164 purine nucleotide biosynthetic process TAS 8106516
GO:0006189 de novo IMP biosynthetic process IEA --
GO:0006541 glutamine metabolic process IEA --
genes like me logo Genes that share ontologies with PPAT: view

No data available for SIGNOR curated interactions for PPAT Gene

Drugs & Compounds for PPAT Gene

Products:

  1. Drug

(20) Drugs for PPAT Gene - From: DrugBank, DGIdb, FDA Approved Drugs, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
L-Glutamine Approved, Investigational Nutra Full agonist, Agonist, Target, product of 0
Dasatinib Approved, Investigational Pharma Target Kinase Inhibitors, SRC/BCR-ABL tyrosine kinase inhibitors 295
Fluorouracil Approved Pharma Enzyme, substrate RNA processing inhibitor and thymidylate synthase inhibitor 1970
Mercaptopurine Approved Pharma Target 0
Azathioprine Approved Pharma inhibitor 190

(24) Additional Compounds for PPAT Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
5-Phosphoribosylamine
  • 5-P-beta-D-Ribosyl-amine
  • 5-P-beta-delta-Ribosyl-amine
  • 5-Phospho-beta-D-ribosyl-amine
  • 5-Phospho-beta-D-ribosylamine
  • 5-Phospho-beta-delta-ribosyl-amine
Phosphoribosyl pyrophosphate
  • 5-Phospho-a-D-ribose-1-diphosphate
  • 5-Phospho-a-D-ribosyl pyrophosphate
  • 5-Phospho-alpha-D-ribose 1-diphosphate
  • 5-Phospho-alpha-D-ribose-1-diphosphate
  • 5-Phospho-alpha-D-ribosyl pyrophosphate
 7540-64-9
pyrophosphate
  • (4-)Diphosphoric acid ion
  • (P2O74-)Diphosphate
  • Diphosphate
  • Diphosphoric acid
  • PPi
 14000-31-8
genes like me logo Genes that share compounds with PPAT: view

Transcripts for PPAT Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for PPAT Gene

(2) REFSEQ mRNAs :
(7) Additional mRNA sequences :
(196) Selected AceView cDNA sequences:
(5) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for PPAT Gene

Phosphoribosyl pyrophosphate amidotransferase:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PPAT Gene

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: - - -
SP6: -
SP7:

Relevant External Links for PPAT Gene

GeneLoc Exon Structure for
PPAT
ECgene alternative splicing isoforms for
PPAT

Expression for PPAT Gene

Products:

  1. Primer

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PPAT Gene

mRNA expression in normal human tissues for PPAT Gene
mRNA expression by BioGPS for PPAT GenemRNA expression by GTEx for PPAT Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PPAT Gene

This gene is overexpressed in Lymph node (16.8) and Peripheral blood mononuclear cells (8.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PPAT Gene



Protein tissue co-expression partners for PPAT Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PPAT Gene:

PPAT

SOURCE GeneReport for Unigene cluster for PPAT Gene:

Hs.331420

mRNA Expression by UniProt/SwissProt for PPAT Gene:

Q06203-PUR1_HUMAN
Tissue specificity: Ubiquitously expressed.

Evidence on tissue expression from TISSUES for PPAT Gene

  • Muscle(4.1)
  • Nervous system(2.9)
  • Liver(2)
genes like me logo Genes that share expression patterns with PPAT: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for PPAT Gene

Orthologs for PPAT Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PPAT Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia PPAT 33 34
  • 99.42 (n)
dog
(Canis familiaris)
 Mammalia PPAT 33 34
  • 92.46 (n)
cow
(Bos Taurus)
 Mammalia PPAT 33 34
  • 91.6 (n)
oppossum
(Monodelphis domestica)
 Mammalia PPAT 34
  • 88 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia PPAT 34
  • 86 (a)
 OneToOne
mouse
(Mus musculus)
 Mammalia Ppat 33 16 34
  • 85.94 (n)
rat
(Rattus norvegicus)
 Mammalia Ppat 33
  • 85.82 (n)
chicken
(Gallus gallus)
 Aves PPAT 33 34
  • 78.06 (n)
lizard
(Anolis carolinensis)
 Reptilia PPAT 34
  • 82 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia ppat 33
  • 72.98 (n)
MGC76221 33
African clawed frog
(Xenopus laevis)
 Amphibia MGC68694 33
zebrafish
(Danio rerio)
 Actinopterygii ppat 33 34
  • 68.96 (n)
rainbow trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.6272 33
fruit fly
(Drosophila melanogaster)
 Insecta Prat2 35 33 34
  • 60.01 (n)
Prat 35 34
  • 60 (a)
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP000179 33
  • 57.64 (n)
worm
(Caenorhabditis elegans)
 Secernentea CELE_T04A8.5 33
  • 56.07 (n)
T04A8.5 35 34
  • 46 (a)
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes ADE4 34 36
  • 32 (a)
 OneToOne
thale cress
(Arabidopsis thaliana)
 eudicotyledons ASE1 33
  • 51.23 (n)
sea squirt
(Ciona intestinalis)
 Ascidiacea Cin.1528 33
Species where no ortholog for PPAT was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PPAT Gene

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

Paralogs for PPAT Gene

Pseudogenes.org Pseudogenes for PPAT Gene

genes like me logo Genes that share paralogs with PPAT: view

No data available for Paralogs for PPAT Gene

Variants for PPAT Gene

Sequence variations from dbSNP and Humsavar for PPAT Gene

SNP ID Clin Chr 04 pos Variation AA Info Type
rs10000147 -- 56,394,795(-) A/G 3_prime_UTR_variant
rs1000028114 -- 56,434,461(-) C/T intron_variant
rs1000127698 -- 56,414,252(-) T/C intron_variant
rs1000293847 -- 56,406,192(-) G/A intron_variant
rs1000386892 -- 56,420,672(-) G/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for PPAT Gene

Variant ID Type Subtype PubMed ID
dgv5213n100 CNV gain 25217958
nsv1136857 CNV deletion 24896259
nsv1161086 CNV duplication 26073780
nsv4347 CNV deletion 18451855
nsv829940 CNV gain 17160897

Variation tolerance for PPAT Gene

Residual Variation Intolerance Score: 19.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.95; 19.65% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PPAT Gene

Human Gene Mutation Database (HGMD)
PPAT
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PPAT

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PPAT Gene

Disorders for PPAT Gene

MalaCards: The human disease database

(2) MalaCards diseases for PPAT Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
phosphoribosylpyrophosphate synthetase superactivity
  • prps1 superactivity
purine-pyrimidine metabolic disorder
  • inborn errors of purine-pyrimidine metabolism
- elite association - COSMIC cancer census association via MalaCards
Search PPAT in MalaCards View complete list of genes associated with diseases

Additional Disease Information for PPAT

ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with PPAT: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PPAT Gene

Publications for PPAT Gene

  1. Two genes for de novo purine nucleotide synthesis on human chromosome 4 are closely linked and divergently transcribed. (PMID: 8106516) Brayton KA … Zalkin H (The Journal of biological chemistry 1994) 3 4 22 58
  2. Molecular cloning of human amidophosphoribosyltransferase. (PMID: 8380692) Iwahana H … Itakura M (Biochemical and biophysical research communications 1993) 3 4 22 58
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  4. Interdomain signaling in glutamine phosphoribosylpyrophosphate amidotransferase. (PMID: 10593947) Bera AK … Zalkin H (The Journal of biological chemistry 1999) 3 22 58
  5. Role of NRF-1 in bidirectional transcription of the human GPAT-AIRC purine biosynthesis locus. (PMID: 9108165) Chen S … Zalkin H (Nucleic acids research 1997) 3 22 58

Products for PPAT Gene

  • Addgene plasmids for PPAT

Sources for PPAT Gene

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