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 diverg... See more...

Aliases for PPAT Gene

Aliases for PPAT Gene

  • Phosphoribosyl Pyrophosphate Amidotransferase 2 3 5
  • GPAT 2 3 4
  • Glutamine Phosphoribosylpyrophosphate Amidotransferase 3 4
  • Amidophosphoribosyltransferase 3 4
  • EC 2.4.2.14 4 50
  • PRAT 2 3
  • Glutamine Phosphoribosylpyrophosphatate Amidotransferase 3
  • Glutamine PRPP Amidotransferase 3
  • ATASE 3
  • ATase 4
  • PPAT 5

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 Immunodeficiency 24. Among its related pathways are One carbon pool by folate and AMPK Enzyme Complex Pathway. Gene Ontology (GO) annotations related to this gene include 4 iron, 4 sulfur cluster binding and amidophosphoribosyltransferase activity.

Gene Wiki entry for PPAT Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PPAT Gene

Genomics for PPAT Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PPAT Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PPAT on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PPAT

Top Transcription factor binding sites by QIAGEN in the PPAT gene promoter:
  • AML1a
  • AREB6
  • ATF-2
  • CP2
  • IRF-7A
  • MyoD
  • p53
  • RSRFC4
  • STAT3
  • TBP

Genomic Locations for PPAT Gene

Latest Assembly
chr4:56,393,362-56,435,615
(GRCh38/hg38)
Size:
42,254 bases
Orientation:
Minus strand

Previous Assembly
chr4:57,259,528-57,301,781
(GRCh37/hg19 by Entrez Gene)
Size:
42,254 bases
Orientation:
Minus strand

chr4:57,259,528-57,301,781
(GRCh37/hg19 by Ensembl)
Size:
42,254 bases
Orientation:
Minus strand

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 StructureGene Density

RefSeq DNA sequence for PPAT Gene

Proteins for PPAT Gene

  • 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

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, Lys349, and Lys372
  • Modification sites at PhosphoSitePlus

Other Protein References for PPAT Gene

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:
  • Purine/pyrimidine phosphoribosyl transferase

Suggested Antigen Peptide Sequences for PPAT Gene

GenScript: Design optimal peptide antigens:
  • Glutamine phosphoribosylpyrophosphate amidotransferase (A8K4H7_HUMAN)
  • Glutamine phosphoribosylpyrophosphate amidotransferase (PUR1_HUMAN)

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

Molecular function for PPAT Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=5-phospho-beta-D-ribosylamine + diphosphate + L-glutamate = 5-phospho-alpha-D-ribose 1-diphosphate + H2O + L-glutamine; Xref=Rhea:RHEA:14905, ChEBI:CHEBI:15377, ChEBI:CHEBI:29985, ChEBI:CHEBI:33019, ChEBI:CHEBI:58017, ChEBI:CHEBI:58359, ChEBI:CHEBI:58681; EC=2.4.2.14;.
GENATLAS Biochemistry:
phosphoribosyl pyrophosphate amidotransferase,catalyzing the first step of the de novo purine biosynthesis

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,IBA 21873635
GO:0016740 transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups IEA --
GO:0042802 identical protein binding IEA --
genes like me logo Genes that share ontologies with PPAT: view
genes like me logo Genes that share phenotypes with PPAT: view

Animal Models for research

  • Taconic Biosciences Mouse Models for PPAT

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PPAT

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
plasma membrane 1
extracellular 1
peroxisome 1
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)

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,IBA 21873635
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
L-Glutamine Approved, Investigational Nutra Target, substrate 0
Dasatinib Approved, Investigational Pharma Target Kinase Inhibitors, SRC/BCR-ABL tyrosine kinase inhibitors 334
Fluorouracil Approved Pharma Enzyme, substrate RNA processing inhibitor and thymidylate synthase inhibitor 2449
Mercaptopurine Approved Pharma Target, inhibitor 237
Azathioprine Approved Pharma inhibitor 237

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
5-Phosphoribosylamine
  • 5-Phospho-beta-D-ribosylamine
  • 5-Phospho-D-ribosylamine
  • 5-Phosphoribosyl-1-amine
  • 5-Phospho-b-D-ribosylamine
  • 5-Phospho-β-D-ribosylamine
6062-06-2
Phosphoribosyl pyrophosphate
  • 5-Phospho-alpha-D-ribose 1-diphosphate
  • 5-Phosphoribosyl 1-pyrophosphate
  • 5-Phosphoribosyl diphosphate
  • alpha-D-Ribofuranose 5-(dihydrogen phosphate) 1-(trihydrogen diphosphate)
  • alpha-Phosphoribosylpyrophosphoric acid
7540-64-9
pyrophosphate
  • [(HO)2P(O)OP(O)(OH)2]
  • Acide diphosphorique
  • Diphosphorsaeure
  • H4P2O7
  • Pyrophosphoric acid
14000-31-8
genes like me logo Genes that share compounds with PPAT: view

Transcripts for PPAT Gene

mRNA/cDNA for PPAT Gene

1 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PPAT

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

Expression for PPAT Gene

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



Protein tissue co-expression partners for PPAT Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(4.3)
  • Nervous system(3.3)
  • Liver(2)
genes like me logo Genes that share expression patterns with PPAT: view

Primer products for research

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 29 30
  • 99.42 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia PPAT 29 30
  • 92.46 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia PPAT 29 30
  • 91.6 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia PPAT 30
  • 88 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia PPAT 30
  • 86 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Ppat 29 16 30
  • 85.94 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ppat 29
  • 85.82 (n)
Chicken
(Gallus gallus)
Aves PPAT 29 30
  • 78.06 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia PPAT 30
  • 82 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ppat 29
  • 72.98 (n)
MGC76221 29
African clawed frog
(Xenopus laevis)
Amphibia MGC68694 29
Zebrafish
(Danio rerio)
Actinopterygii ppat 29 30
  • 68.96 (n)
OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6272 29
Fruit Fly
(Drosophila melanogaster)
Insecta Prat2 29 30 31
  • 60.01 (n)
OneToMany
Prat 30 31
  • 57 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000179 29
  • 57.64 (n)
Worm
(Caenorhabditis elegans)
Secernentea CELE_T04A8.5 29
  • 56.07 (n)
T04A8.5 30 31
  • 49 (a)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ADE4 30 32
  • 32 (a)
OneToOne
Thale Cress
(Arabidopsis thaliana)
eudicotyledons ASE1 29
  • 51.23 (n)
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.1528 29
Species where no ortholog for PPAT was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Squirt (Ciona savignyi)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for PPAT: view image
Alliance of Genome Resources:
Additional Orthologs for PPAT

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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PPAT Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
rs552713157 Likely Benign: not provided 56,435,340(-) T/A
NM_002703.5(PPAT):c.128+10A>T
INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for PPAT Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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
Leiden Open Variation Database (LOVD)
PPAT

SNP Genotyping and Copy Number Assays for research

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: COP and GCD

Disorder Aliases PubMed IDs
phosphoribosylpyrophosphate synthetase superactivity
  • prps1 superactivity
immunodeficiency 24
  • imd24
- 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

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
  2. Molecular cloning of human amidophosphoribosyltransferase. (PMID: 8380692) Iwahana H … Itakura M (Biochemical and biophysical research communications 1993) 3 4 22
  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
  4. Interdomain signaling in glutamine phosphoribosylpyrophosphate amidotransferase. (PMID: 10593947) Bera AK … Zalkin H (The Journal of biological chemistry 1999) 3 22
  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

Products for PPAT Gene

Sources for PPAT Gene