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PPAT (phosphoribosyl pyrophosphate amidotransferase)

Identity

Alias_symbol (synonym)GPAT
PRAT
Other aliasATASE
HGNC (Hugo) PPAT
LocusID (NCBI) 5471
Atlas_Id 55909
Location 4q12  [Link to chromosome band 4q12]
Location_base_pair Starts at 56393363 and ends at 56435636 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)PPAT   9238
Cards
Entrez_Gene (NCBI)PPAT  5471  phosphoribosyl pyrophosphate amidotransferase
AliasesATASE; GPAT; PRAT
GeneCards (Weizmann)PPAT
Ensembl hg19 (Hinxton)ENSG00000128059 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000128059 [Gene_View]  chr4:56393363-56435636 [Contig_View]  PPAT [Vega]
ICGC DataPortalENSG00000128059
TCGA cBioPortalPPAT
AceView (NCBI)PPAT
Genatlas (Paris)PPAT
WikiGenes5471
SOURCE (Princeton)PPAT
Genetics Home Reference (NIH)PPAT
Genomic and cartography
GoldenPath hg38 (UCSC)PPAT  -     chr4:56393363-56435636 -  4q12   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PPAT  -     4q12   [Description]    (hg19-Feb_2009)
EnsemblPPAT - 4q12 [CytoView hg19]  PPAT - 4q12 [CytoView hg38]
Mapping of homologs : NCBIPPAT [Mapview hg19]  PPAT [Mapview hg38]
OMIM172450   
Gene and transcription
Genbank (Entrez)AB209246 AK222759 AK290942 AK312297 BC004200
RefSeq transcript (Entrez)NM_002703
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PPAT
Cluster EST : UnigeneHs.331420 [ NCBI ]
CGAP (NCI)Hs.331420
Alternative Splicing GalleryENSG00000128059
Gene ExpressionPPAT [ NCBI-GEO ]   PPAT [ EBI - ARRAY_EXPRESS ]   PPAT [ SEEK ]   PPAT [ MEM ]
Gene Expression Viewer (FireBrowse)PPAT [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5471
GTEX Portal (Tissue expression)PPAT
Human Protein AtlasENSG00000128059-PPAT [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ06203   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ06203  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ06203
Splice isoforms : SwissVarQ06203
Catalytic activity : Enzyme2.4.2.14 [ Enzyme-Expasy ]   2.4.2.142.4.2.14 [ IntEnz-EBI ]   2.4.2.14 [ BRENDA ]   2.4.2.14 [ KEGG ]   
PhosPhoSitePlusQ06203
Domaine pattern : Prosite (Expaxy)GATASE_TYPE_2 (PS51278)    PUR_PYR_PR_TRANSFER (PS00103)   
Domains : Interpro (EBI)GATase_2_dom    Ntn_hydrolases_N    PRibTrfase_dom    PRTase-like    PurF   
Domain families : Pfam (Sanger)Pribosyltran (PF00156)   
Domain families : Pfam (NCBI)pfam00156   
Conserved Domain (NCBI)PPAT
DMDM Disease mutations5471
Blocks (Seattle)PPAT
SuperfamilyQ06203
Human Protein Atlas [tissue]ENSG00000128059-PPAT [tissue]
Peptide AtlasQ06203
HPRD01402
IPIIPI00029534   IPI00556497   IPI00967713   IPI00967985   
Protein Interaction databases
DIP (DOE-UCLA)Q06203
IntAct (EBI)Q06203
FunCoupENSG00000128059
BioGRIDPPAT
STRING (EMBL)PPAT
ZODIACPPAT
Ontologies - Pathways
QuickGOQ06203
Ontology : AmiGOG1/S transition of mitotic cell cycle  kidney development  amidophosphoribosyltransferase activity  cytosol  purine nucleotide biosynthetic process  'de novo' IMP biosynthetic process  glutamine catabolic process  lactation  purine nucleobase biosynthetic process  nucleoside metabolic process  purine ribonucleoside monophosphate biosynthetic process  animal organ regeneration  cellular response to insulin stimulus  cellular response to drug  metal ion binding  protein homotetramerization  4 iron, 4 sulfur cluster binding  maternal process involved in female pregnancy  
Ontology : EGO-EBIG1/S transition of mitotic cell cycle  kidney development  amidophosphoribosyltransferase activity  cytosol  purine nucleotide biosynthetic process  'de novo' IMP biosynthetic process  glutamine catabolic process  lactation  purine nucleobase biosynthetic process  nucleoside metabolic process  purine ribonucleoside monophosphate biosynthetic process  animal organ regeneration  cellular response to insulin stimulus  cellular response to drug  metal ion binding  protein homotetramerization  4 iron, 4 sulfur cluster binding  maternal process involved in female pregnancy  
Pathways : KEGGPurine metabolism    Alanine, aspartate and glutamate metabolism   
NDEx NetworkPPAT
Atlas of Cancer Signalling NetworkPPAT
Wikipedia pathwaysPPAT
Orthology - Evolution
OrthoDB5471
GeneTree (enSembl)ENSG00000128059
Phylogenetic Trees/Animal Genes : TreeFamPPAT
HOVERGENQ06203
HOGENOMQ06203
Homologs : HomoloGenePPAT
Homology/Alignments : Family Browser (UCSC)PPAT
Gene fusions - Rearrangements
Fusion: Tumor Portal PPAT
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPPAT [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PPAT
dbVarPPAT
ClinVarPPAT
1000_GenomesPPAT 
Exome Variant ServerPPAT
ExAC (Exome Aggregation Consortium)ENSG00000128059
GNOMAD BrowserENSG00000128059
Genetic variants : HAPMAP5471
Genomic Variants (DGV)PPAT [DGVbeta]
DECIPHERPPAT [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPPAT 
Mutations
ICGC Data PortalPPAT 
TCGA Data PortalPPAT 
Broad Tumor PortalPPAT
OASIS PortalPPAT [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPPAT  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPPAT
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch PPAT
DgiDB (Drug Gene Interaction Database)PPAT
DoCM (Curated mutations)PPAT (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PPAT (select a term)
intoGenPPAT
Cancer3DPPAT(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM172450   
Orphanet
MedgenPPAT
Genetic Testing Registry PPAT
NextProtQ06203 [Medical]
TSGene5471
GENETestsPPAT
Target ValidationPPAT
Huge Navigator PPAT [HugePedia]
snp3D : Map Gene to Disease5471
BioCentury BCIQPPAT
ClinGenPPAT
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5471
Chemical/Pharm GKB GenePA33559
Clinical trialPPAT
Miscellaneous
canSAR (ICR)PPAT (select the gene name)
Probes
Litterature
PubMed25 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePPAT
EVEXPPAT
GoPubMedPPAT
iHOPPPAT
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Thu Nov 9 13:06:04 CET 2017

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