Atlas of Genetics and Cytogenetics in Oncology and Haematology

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   
X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

PRPS1 (phosphoribosyl pyrophosphate synthetase 1)

Identity

Alias (NCBI)ARTS
CMTX5
DFN2
DFNX1
PPRibP
PRS-I
PRSI
HGNC (Hugo) PRPS1
HGNC Alias symbCMTX5
DFNX1
HGNC Alias namePRS I
 ribose-phosphate diphosphokinase 1
HGNC Previous nameDFN2
HGNC Previous namedeafness, X-linked 2, perceptive, congenital
LocusID (NCBI) 5631
Atlas_Id 46404
Location Xq22.3  [Link to chromosome band Xq22]
Location_base_pair Starts at 107628510 and ends at 107651026 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)
PRPS1 (Xq22.3) / PRKCB (16p12.2)PRPS1 (Xq22.3) / TMEM91 (19q13.2)

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)PRPS1   9462
LRG (Locus Reference Genomic)LRG_264
Cards
Entrez_Gene (NCBI)PRPS1    phosphoribosyl pyrophosphate synthetase 1
AliasesARTS; CMTX5; DFN2; DFNX1; 
PPRibP; PRS-I; PRSI
GeneCards (Weizmann)PRPS1
Ensembl hg19 (Hinxton)ENSG00000147224 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000147224 [Gene_View]  ENSG00000147224 [Sequence]  chrX:107628510-107651026 [Contig_View]  PRPS1 [Vega]
ICGC DataPortalENSG00000147224
TCGA cBioPortalPRPS1
AceView (NCBI)PRPS1
Genatlas (Paris)PRPS1
SOURCE (Princeton)PRPS1
Genetics Home Reference (NIH)PRPS1
Genomic and cartography
GoldenPath hg38 (UCSC)PRPS1  -     chrX:107628510-107651026 +  Xq22.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PRPS1  -     Xq22.3   [Description]    (hg19-Feb_2009)
GoldenPathPRPS1 - Xq22.3 [CytoView hg19]  PRPS1 - Xq22.3 [CytoView hg38]
ImmunoBaseENSG00000147224
genome Data Viewer NCBIPRPS1 [Mapview hg19]  
OMIM300661   301835   304500   311070   311850   
Gene and transcription
Genbank (Entrez)AK223169 AK297968 AK307748 AK312706 AK316467
RefSeq transcript (Entrez)NM_001204402 NM_002764
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PRPS1
Alternative Splicing GalleryENSG00000147224
Gene ExpressionPRPS1 [ NCBI-GEO ]   PRPS1 [ EBI - ARRAY_EXPRESS ]   PRPS1 [ SEEK ]   PRPS1 [ MEM ]
Gene Expression Viewer (FireBrowse)PRPS1 [ Firebrowse - Broad ]
GenevisibleExpression of PRPS1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5631
GTEX Portal (Tissue expression)PRPS1
Human Protein AtlasENSG00000147224-PRPS1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP60891   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP60891  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP60891
Splice isoforms : SwissVarP60891
Catalytic activity : Enzyme2.7.6.1 [ Enzyme-Expasy ]   2.7.6.12.7.6.1 [ IntEnz-EBI ]   2.7.6.1 [ BRENDA ]   2.7.6.1 [ KEGG ]   [ MEROPS ]
PhosPhoSitePlusP60891
Domaine pattern : Prosite (Expaxy)PRPP_SYNTHASE (PS00114)   
Domains : Interpro (EBI)PRib_PP_synth_CS    Pribosyltran_N    PRibTrfase_dom    PRTase-like    Rib-P_diPkinase    Rib-P_diPkinase_bac   
Domain families : Pfam (Sanger)Pribosyl_synth (PF14572)    Pribosyltran_N (PF13793)   
Domain families : Pfam (NCBI)pfam14572    pfam13793   
Conserved Domain (NCBI)PRPS1
Blocks (Seattle)PRPS1
PDB (RSDB)2H06    2H07    2H08    2HCR    3EFH    3S5J    4F8E    4LYG    4LZN    4LZO    4M0P    4M0U   
PDB Europe2H06    2H07    2H08    2HCR    3EFH    3S5J    4F8E    4LYG    4LZN    4LZO    4M0P    4M0U   
PDB (PDBSum)2H06    2H07    2H08    2HCR    3EFH    3S5J    4F8E    4LYG    4LZN    4LZO    4M0P    4M0U   
PDB (IMB)2H06    2H07    2H08    2HCR    3EFH    3S5J    4F8E    4LYG    4LZN    4LZO    4M0P    4M0U   
Structural Biology KnowledgeBase2H06    2H07    2H08    2HCR    3EFH    3S5J    4F8E    4LYG    4LZN    4LZO    4M0P    4M0U   
SCOP (Structural Classification of Proteins)2H06    2H07    2H08    2HCR    3EFH    3S5J    4F8E    4LYG    4LZN    4LZO    4M0P    4M0U   
CATH (Classification of proteins structures)2H06    2H07    2H08    2HCR    3EFH    3S5J    4F8E    4LYG    4LZN    4LZO    4M0P    4M0U   
SuperfamilyP60891
Human Protein Atlas [tissue]ENSG00000147224-PRPS1 [tissue]
Peptide AtlasP60891
HPRD02413
IPIIPI00219616   IPI01026431   IPI00643000   IPI00552495   
Protein Interaction databases
DIP (DOE-UCLA)P60891
IntAct (EBI)P60891
BioGRIDPRPS1
STRING (EMBL)PRPS1
ZODIACPRPS1
Ontologies - Pathways
QuickGOP60891
Ontology : AmiGOmagnesium ion binding  ribose phosphate diphosphokinase complex  ribose phosphate diphosphokinase activity  ribose phosphate diphosphokinase activity  ribose phosphate diphosphokinase activity  protein binding  ATP binding  ATP binding  cytoplasm  cytosol  5-phosphoribose 1-diphosphate biosynthetic process  5-phosphoribose 1-diphosphate biosynthetic process  5-phosphoribose 1-diphosphate biosynthetic process  purine nucleobase metabolic process  purine nucleotide biosynthetic process  purine nucleotide biosynthetic process  pyrimidine nucleotide biosynthetic process  nervous system development  nucleoside metabolic process  ribonucleoside monophosphate biosynthetic process  nucleotide biosynthetic process  kinase activity  phosphorylation  urate biosynthetic process  identical protein binding  protein homodimerization activity  hypoxanthine biosynthetic process  
Ontology : EGO-EBImagnesium ion binding  ribose phosphate diphosphokinase complex  ribose phosphate diphosphokinase activity  ribose phosphate diphosphokinase activity  ribose phosphate diphosphokinase activity  protein binding  ATP binding  ATP binding  cytoplasm  cytosol  5-phosphoribose 1-diphosphate biosynthetic process  5-phosphoribose 1-diphosphate biosynthetic process  5-phosphoribose 1-diphosphate biosynthetic process  purine nucleobase metabolic process  purine nucleotide biosynthetic process  purine nucleotide biosynthetic process  pyrimidine nucleotide biosynthetic process  nervous system development  nucleoside metabolic process  ribonucleoside monophosphate biosynthetic process  nucleotide biosynthetic process  kinase activity  phosphorylation  urate biosynthetic process  identical protein binding  protein homodimerization activity  hypoxanthine biosynthetic process  
Pathways : KEGGPentose phosphate pathway    Purine metabolism   
NDEx NetworkPRPS1
Atlas of Cancer Signalling NetworkPRPS1
Wikipedia pathwaysPRPS1
Orthology - Evolution
OrthoDB5631
GeneTree (enSembl)ENSG00000147224
Phylogenetic Trees/Animal Genes : TreeFamPRPS1
HOGENOMP60891
Homologs : HomoloGenePRPS1
Homology/Alignments : Family Browser (UCSC)PRPS1
Gene fusions - Rearrangements
Fusion : QuiverPRPS1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPRPS1 [hg38]
dbVarPRPS1
ClinVarPRPS1
MonarchPRPS1
1000_GenomesPRPS1 
Exome Variant ServerPRPS1
GNOMAD BrowserENSG00000147224
Varsome BrowserPRPS1
Genomic Variants (DGV)PRPS1 [DGVbeta]
DECIPHERPRPS1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPRPS1 
Mutations
ICGC Data PortalPRPS1 
TCGA Data PortalPRPS1 
Broad Tumor PortalPRPS1
OASIS PortalPRPS1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPRPS1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DPRPS1
Mutations and Diseases : HGMDPRPS1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)Leiden Muscular Dystrophy pages
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)X-chromosome gene database
BioMutasearch PRPS1
DgiDB (Drug Gene Interaction Database)PRPS1
DoCM (Curated mutations)PRPS1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PRPS1 (select a term)
intoGenPRPS1
Cancer3DPRPS1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM300661    301835    304500    311070    311850   
Orphanet1444    23018    23019    23160    12045    14031   
DisGeNETPRPS1
MedgenPRPS1
Genetic Testing Registry PRPS1
NextProtP60891 [Medical]
GENETestsPRPS1
Target ValidationPRPS1
Huge Navigator PRPS1 [HugePedia]
ClinGenPRPS1 (curated)
Clinical trials, drugs, therapy
MyCancerGenomePRPS1
Protein Interactions : CTD
Pharm GKB GenePA33817
PharosP60891
Clinical trialPRPS1
Miscellaneous
canSAR (ICR)PRPS1 (select the gene name)
HarmonizomePRPS1
DataMed IndexPRPS1
Probes
Litterature
PubMed103 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXPRPS1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Jan 1 18:33:09 CET 2021
Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.