Aliases for PPAT Gene
Aliases for PPAT Gene
External Ids for PPAT Gene
- HGNC: 9238
- Entrez Gene: 5471
- Ensembl: ENSG00000128059
- OMIM: 172450
- UniProtKB: Q06203
Previous GeneCards Identifiers for PPAT Gene
- GC04M057063
- GC04M057221
- GC04M057109
- GC04M057175
- GC04M057100
- GC04M056954
- GC04M057259
- GC04M053213
Summaries 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.
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
GeneHancer (GH) Regulatory Elements for PPAT Gene
Regulatory Element Products
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
- Cytogenetic band:
-
- 4q12 by Ensembl
- 4q12 by Entrez Gene
- 4q12 by HGNC


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.
Protein Expression 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, isoforms=349, and isoforms=372
Other Protein References for PPAT Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for PPAT
- Invitrogen Antibodies for PPAT
- GeneTex PPAT antibody for PPAT
Protein Products
-
OriGene Purified Proteins for PPAT
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-
Quality Products:
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Abcam proteins for PPAT
Assay Products
- antibodies-online: Search results for 3 available PPAT Elisa Kits ranked by validation data
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-
Quality Products:
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
Q06203UniProtKB/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.
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
Phenotypes From GWAS Catalog 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 | -- |
Phenotypes for PPAT Gene
Animal Model Products
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ViGene Biosciences lentiviral particle packaged cDNA for PPAT gene
-
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CRISPR Products
-
OriGene CRISPR knockouts for PPAT
- genomics-online: gRNA clones - Search results for 107 available PPAT gene related products
- Overview of 107 available PPAT gene related products
- Applied Biological Materials CRISPR for PPAT
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for PPAT
- GenScript: Design CRISPR guide RNA sequences for PPAT
miRNA for PPAT Gene
- miRTarBase miRNAs that target PPAT
miRNA Products
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Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for PPAT
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- Overview of 107 available PPAT gene related products
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ViGene Biosciences ready-to-package AAV shRNAs for PPAT gene
Clone Products
- Sino Biological Human cDNA Clone for PPAT
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-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
ViGene Biosciences adenoviral particle packaged cDNA for PPAT gene
-
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-
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No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PPAT Gene
Localization for PPAT Gene
- Midbody ring (2)
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005829 | cytosol | TAS | -- |
No data available for Subcellular locations from UniProtKB/Swiss-Prot for PPAT Gene
Pathways & Interactions for PPAT Gene
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Purine metabolism | ||
2 | Metabolism |
.37
|
|
3 | One carbon pool by folate | ||
4 | Pyrimidine metabolism (REACTOME) | ||
5 | Alanine, aspartate and glutamate metabolism |
Pathways by source for PPAT Gene
3 BioSystems pathways for PPAT Gene
4 Reactome pathways for PPAT Gene
3 KEGG pathways for PPAT Gene
1 Qiagen pathway for PPAT Gene
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.
Interacting Proteins 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 | -- |
No data available for SIGNOR curated interactions for PPAT Gene
Drugs & Compounds for PPAT Gene
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 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
5-Phosphoribosylamine |
|
|
||||
Phosphoribosyl pyrophosphate |
|
7540-64-9 |
|
|||
pyrophosphate |
|
14000-31-8 |
|
Transcripts for PPAT Gene
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
CRISPR Products
-
OriGene CRISPR knockouts for PPAT
- genomics-online: gRNA clones - Search results for 107 available PPAT gene related products
- Overview of 107 available PPAT gene related products
- Applied Biological Materials CRISPR for PPAT
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for PPAT
- GenScript: Design CRISPR guide RNA sequences for PPAT
miRNA Products
- Search ViGene Biosciences for PPAT
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for PPAT
- Browse OriGene Inhibitory RNA Products For PPAT
- genomics-online: shRNA clones - Search results for 107 available PPAT gene related products
- Overview of 107 available PPAT gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for PPAT gene
Clone Products
- Sino Biological Human cDNA Clone for PPAT
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Addgene plasmids for PPAT
- Applied Biological Materials Clones for PPAT
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
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: |
Expression for PPAT Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Brain (Nervous System)
- Neural Tube (Nervous System)
-
Lung (Respiratory System)
-
Liver (Hepatobiliary System)
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PPAT Gene
NURSA nuclear receptor signaling pathways regulating expression of PPAT Gene:
PPATSOURCE GeneReport for Unigene cluster for PPAT Gene:
Hs.331420mRNA Expression by UniProt/SwissProt for PPAT Gene:
Q06203-PUR1_HUMANEvidence on tissue expression from TISSUES for PPAT Gene
- Muscle(4.1)
- Nervous system(2.9)
- Liver(2)
Primer Products
-
OriGene qPCR primer pairs for PPAT
-
OriGene qPCR primer pairs and template standards for PPAT
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.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | PPAT 33 34 |
|
||
dog (Canis familiaris) |
Mammalia | PPAT 33 34 |
|
||
cow (Bos Taurus) |
Mammalia | PPAT 33 34 |
|
||
oppossum (Monodelphis domestica) |
Mammalia | PPAT 34 |
|
OneToOne | |
platypus (Ornithorhynchus anatinus) |
Mammalia | PPAT 34 |
|
OneToOne | |
mouse (Mus musculus) |
Mammalia | Ppat 33 16 34 |
|
||
rat (Rattus norvegicus) |
Mammalia | Ppat 33 |
|
||
chicken (Gallus gallus) |
Aves | PPAT 33 34 |
|
||
lizard (Anolis carolinensis) |
Reptilia | PPAT 34 |
|
OneToOne | |
tropical clawed frog (Silurana tropicalis) |
Amphibia | ppat 33 |
|
||
MGC76221 33 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | MGC68694 33 |
|
||
zebrafish (Danio rerio) |
Actinopterygii | ppat 33 34 |
|
||
rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.6272 33 |
|
||
fruit fly (Drosophila melanogaster) |
Insecta | Prat2 35 33 34 |
|
||
Prat 35 34 |
|
||||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP000179 33 |
|
||
worm (Caenorhabditis elegans) |
Secernentea | CELE_T04A8.5 33 |
|
||
T04A8.5 35 34 |
|
||||
baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | ADE4 34 36 |
|
OneToOne | |
thale cress (Arabidopsis thaliana) |
eudicotyledons | ASE1 33 |
|
||
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)
Paralogs for PPAT Gene
Pseudogenes.org Pseudogenes for PPAT Gene
No data available for Paralogs for PPAT Gene
Variants 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 |
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 |
Additional Variant Information for PPAT Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PPAT Gene
Disorders for PPAT Gene
Disorder | Aliases | PubMed IDs |
---|---|---|
phosphoribosylpyrophosphate synthetase superactivity |
|
|
purine-pyrimidine metabolic disorder |
|
|
Additional Disease Information for PPAT
No data available for UniProtKB/Swiss-Prot and Genatlas for PPAT Gene
Publications for PPAT Gene
- 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
- Molecular cloning of human amidophosphoribosyltransferase. (PMID: 8380692) Iwahana H … Itakura M (Biochemical and biophysical research communications 1993) 3 4 22 58
- 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
- Interdomain signaling in glutamine phosphoribosylpyrophosphate amidotransferase. (PMID: 10593947) Bera AK … Zalkin H (The Journal of biological chemistry 1999) 3 22 58
- 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
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- Invitrogen Antibodies for PPAT
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- antibodies-online: Search results for 72 available PPAT Antibodies ranked by validation data
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- antibodies-online: Search results for 5 available PPAT Proteins ranked by validation data
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- Search ViGene Biosciences for PPAT
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- Overview of 107 available PPAT gene related products
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- Overview of 107 available PPAT gene related products
Sources for PPAT Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
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- (155) genomics-online
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- (157) EPDnew