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Aliases for PPAT Gene

Aliases for PPAT Gene

  • Phosphoribosyl Pyrophosphate Amidotransferase 2 3
  • GPAT 3 4 6
  • Glutamine Phosphoribosylpyrophosphate Amidotransferase 3 4
  • EC 2.4.2.14 4 64
  • ATASE 3 4
  • Glutamine Phosphoribosylpyrophosphatate Amidotransferase 3
  • Glutamine PRPP Amidotransferase 3
  • Amidophosphoribosyltransferase 3
  • PRAT 3

External Ids for PPAT Gene

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 lesch-nyhan syndrome. Among its related pathways are Metabolism and Metabolism. 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 UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PPAT Gene

Genomics for PPAT Gene

Genomic Location for PPAT Gene

Start:
56,393,362 bp from pter
End:
56,435,636 bp from pter
Size:
42,275 bases
Orientation:
Minus strand

Genomic View for PPAT Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PPAT Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PPAT Gene

Regulatory Elements 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
    Secondary Accessions:

    Protein attributes for PPAT Gene

    Size:
    517 amino acids
    Molecular mass:
    57399 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Note=Binds 1 Mg(2+) ion per subunit.;
    Cofactor:
    Name=[4Fe-4S] cluster; Xref=ChEBI:CHEBI:49883; Note=Binds 1 [4Fe-4S] cluster per subunit.;
    Quaternary structure:
    • Homotetramer

neXtProt entry for PPAT Gene

Proteomics data for PPAT Gene at MOPED

Selected DME Specific Peptides for PPAT Gene

Post-translational modifications for PPAT Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys99, Lys349, and Lys372

Other Protein References for PPAT Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Domains for PPAT Gene

UniProtKB/Swiss-Prot:

PUR1_HUMAN
Domain:
  • Contains 1 glutamine amidotransferase type-2 domain.:
    • Q06203
Family:
  • In the C-terminal section; belongs to the purine/pyrimidine phosphoribosyltransferase family.:
    • Q06203
genes like me logo Genes that share domains with PPAT: view

No data available for Gene Families for PPAT Gene

Function for PPAT Gene

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

Gene Ontology (GO) - Molecular Function for PPAT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004044 amidophosphoribosyltransferase activity IEA --
GO:0046872 metal ion binding IEA --
GO:0051539 4 iron, 4 sulfur cluster binding IEA --
genes like me logo Genes that share ontologies with PPAT: view

Phenotypes for PPAT Gene

GenomeRNAi human phenotypes for PPAT:
genes like me logo Genes that share phenotypes with PPAT: view

No data available for Animal Models , Transcription Factor Targeting and HOMER Transcription for PPAT Gene

Localization for PPAT Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PPAT Gene COMPARTMENTS Subcellular localization image for PPAT gene
Compartment Confidence
cytosol 4
cytoskeleton 2
mitochondrion 2
nucleus 1

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

Pathways 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:0006144 purine nucleobase metabolic process TAS --
GO:0006164 purine nucleotide biosynthetic process TAS 8106516
GO:0006189 de novo IMP biosynthetic process IEA --
genes like me logo Genes that share ontologies with PPAT: view

Compounds for PPAT Gene

(9) HMDB Compounds for PPAT Gene

Compound Synonyms Cas Number PubMed IDs
5-Phosphoribosylamine
  • 5-P-beta-D-ribosyl-amine
Not Available
Famotidine
  • Amfamox
76824-35-6
L-Glutamic acid
  • (2S)-2-Aminopentanedioate
56-86-0
L-Glutamine
  • (2S)-2,5-diamino-5-oxopentanoic acid
56-85-9
Magnesium
  • Magnesium
7439-95-4

(2) Drugbank Compounds for PPAT Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Fluorouracil
  • 5-Fluorouracil
51-21-8 enzyme substrate
L-Glutamine
  • (S)-2,5-diamino-5-oxopentanoic acid
56-85-9 target product of

(32) Novoseek inferred chemical compound relationships for PPAT Gene

Compound -log(P) Hits PubMed IDs
hatpa 92.8 2
phosphoribosylamine 91.5 2
o6-benzylguanine 90.8 22
cb 10277 89.9 5
mitozolomide 87.2 6
genes like me logo Genes that share compounds with PPAT: view

Transcripts for PPAT Gene

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

mRNA expression in normal human tissues for PPAT Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for PPAT Gene

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

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 36
  • 99.42 (n)
  • 99.61 (a)
PPAT 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PPAT 36
  • 91.6 (n)
  • 93.6 (a)
PPAT 37
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PPAT 36
  • 92.46 (n)
  • 94.2 (a)
PPAT 37
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ppat 36
  • 85.94 (n)
  • 93.04 (a)
Ppat 16
Ppat 37
  • 93 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PPAT 37
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PPAT 37
  • 86 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ppat 36
  • 85.82 (n)
  • 93.42 (a)
chicken
(Gallus gallus)
Aves PPAT 36
  • 78.06 (n)
  • 84.39 (a)
PPAT 37
  • 84 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PPAT 37
  • 82 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia MGC68694 36
tropical clawed frog
(Silurana tropicalis)
Amphibia MGC76221 36
ppat 36
  • 72.98 (n)
  • 81.66 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6272 36
zebrafish
(Danio rerio)
Actinopterygii ppat 36
  • 68.96 (n)
  • 74.61 (a)
ppat 37
  • 75 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000179 36
  • 57.64 (n)
  • 65.99 (a)
fruit fly
(Drosophila melanogaster)
Insecta Prat 37
  • 57 (a)
OneToMany
Prat2 36
  • 60.01 (n)
  • 65.43 (a)
Prat2 37
  • 57 (a)
OneToMany
Prat2 38
  • 60 (a)
Prat 38
  • 60 (a)
worm
(Caenorhabditis elegans)
Secernentea CELE_T04A8.5 36
  • 56.07 (n)
  • 50.21 (a)
T04A8.5 37
  • 49 (a)
OneToOne
T04A8.5 38
  • 46 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ADE4 37
  • 32 (a)
OneToOne
ADE4 39
thale cress
(Arabidopsis thaliana)
eudicotyledons ASE1 36
  • 51.23 (n)
  • 44.3 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1528 36
Species with no ortholog for PPAT:
  • 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 Sequence Context AA Info Type MAF
rs956275 -- 56,401,240(+) AAGAG(C/T)CAGGT intron-variant
rs2271923 -- 56,406,454(-) AAATG(A/G)TTAGG intron-variant
rs2271924 -- 56,402,162(-) GAAAC(A/G/T)GAAGG reference, synonymous-codon
rs2271925 -- 56,400,958(-) TGTTA(A/T)ATCAT intron-variant
rs2681327 -- 56,397,737(-) AAAAA(A/T)TTTTT intron-variant

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

Variant ID Type Subtype PubMed ID
nsv829940 CNV Gain 17160897
nsv4347 CNV Loss 18451855

Relevant External Links for PPAT Gene

HapMap Linkage Disequilibrium report
PPAT
Human Gene Mutation Database (HGMD)
PPAT

Disorders for PPAT Gene

(1) University of Copenhagen DISEASES for PPAT Gene

(15) Novoseek inferred disease relationships for PPAT Gene

Disease -log(P) Hits PubMed IDs
metastatic melanoma 31.8 1
melanoma 26.5 6
glioma 24.6 4
malignant glioma 18.7 1
hodgkin disease 3.08 1
genes like me logo Genes that share disorders with PPAT: view

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

Publications for PPAT Gene

  1. Molecular cloning of human amidophosphoribosyltransferase. (PMID: 8380692) Iwahana H. … Itakura M. (Biochem. Biophys. Res. Commun. 1993) 3 4 23
  2. Two genes for de novo purine nucleotide synthesis on human chromosome 4 are closely linked and divergently transcribed. (PMID: 8106516) Brayton K.A. … Zalkin H. (J. Biol. Chem. 1994) 3 4 23
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  4. Role of NRF-1 in bidirectional transcription of the human GPAT-AIRC purine biosynthesis locus. (PMID: 9108165) Chen S. … Zalkin H. (Nucleic Acids Res. 1997) 3 23
  5. Interdomain signaling in glutamine phosphoribosylpyrophosphate amidotransferase. (PMID: 10593947) Bera A.K. … Zalkin H. (J. Biol. Chem. 1999) 3 23

Products for PPAT Gene

Sources for PPAT Gene

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