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PRPS1 (phosphoribosyl pyrophosphate synthetase 1)

Identity

Alias_namesDFN2
deafness
Alias_symbol (synonym)CMTX5
DFNX1
Other aliasARTS
PPRibP
PRS-I
PRSI
HGNC (Hugo) PRPS1
LocusID (NCBI) 5631
Atlas_Id 46404
Location Xq22.3  [Link to chromosome band Xq22]
Location_base_pair Starts at 106871654 and ends at 106894256 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
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  5631  phosphoribosyl pyrophosphate synthetase 1
AliasesARTS; CMTX5; DFN2; DFNX1; 
PPRibP; PRS-I; PRSI
GeneCards (Weizmann)PRPS1
Ensembl hg19 (Hinxton)ENSG00000147224 [Gene_View]  chrX:106871654-106894256 [Contig_View]  PRPS1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000147224 [Gene_View]  chrX:106871654-106894256 [Contig_View]  PRPS1 [Vega]
ICGC DataPortalENSG00000147224
TCGA cBioPortalPRPS1
AceView (NCBI)PRPS1
Genatlas (Paris)PRPS1
WikiGenes5631
SOURCE (Princeton)PRPS1
Genetics Home Reference (NIH)PRPS1
Genomic and cartography
GoldenPath hg19 (UCSC)PRPS1  -     chrX:106871654-106894256 +  Xq22.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)PRPS1  -     Xq22.3   [Description]    (hg38-Dec_2013)
EnsemblPRPS1 - Xq22.3 [CytoView hg19]  PRPS1 - Xq22.3 [CytoView hg38]
Mapping of homologs : NCBIPRPS1 [Mapview hg19]  PRPS1 [Mapview hg38]
OMIM300661   301835   311070   311850   
Gene and transcription
Genbank (Entrez)AK223169 AK297968 AK307748 AK312706 AK316467
RefSeq transcript (Entrez)NM_001204402 NM_002764
RefSeq genomic (Entrez)NC_000023 NC_018934 NG_008407 NT_011651 NW_004929444
Consensus coding sequences : CCDS (NCBI)PRPS1
Cluster EST : UnigeneHs.56 [ NCBI ]
CGAP (NCI)Hs.56
Alternative Splicing GalleryENSG00000147224
Gene ExpressionPRPS1 [ NCBI-GEO ]   PRPS1 [ EBI - ARRAY_EXPRESS ]   PRPS1 [ SEEK ]   PRPS1 [ MEM ]
Gene Expression Viewer (FireBrowse)PRPS1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5631
GTEX Portal (Tissue expression)PRPS1
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 ]   
PhosPhoSitePlusP60891
Domaine pattern : Prosite (Expaxy)PRPP_SYNTHASE (PS00114)   
Domains : Interpro (EBI)PRib_PP_synth_CS    Pribosyltran_N    PRTase-like    Rib-P_diPkinase   
Domain families : Pfam (Sanger)Pribosyl_synth (PF14572)    Pribosyltran_N (PF13793)   
Domain families : Pfam (NCBI)pfam14572    pfam13793   
Conserved Domain (NCBI)PRPS1
DMDM Disease mutations5631
Blocks (Seattle)PRPS1
PDB (SRS)2H06    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   
PDB (RSDB)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 AtlasENSG00000147224
Peptide AtlasP60891
HPRD02413
IPIIPI00219616   IPI01026431   IPI00643000   IPI00552495   
Protein Interaction databases
DIP (DOE-UCLA)P60891
IntAct (EBI)P60891
FunCoupENSG00000147224
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  cytosol  5-phosphoribose 1-diphosphate biosynthetic process  5-phosphoribose 1-diphosphate biosynthetic process  purine nucleobase metabolic process  purine nucleotide biosynthetic process  AMP biosynthetic process  pyrimidine nucleotide biosynthetic process  nervous system development  AMP binding  kinase activity  phosphorylation  GDP binding  carbohydrate binding  organ regeneration  urate biosynthetic process  protein homodimerization activity  ADP binding  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  cytosol  5-phosphoribose 1-diphosphate biosynthetic process  5-phosphoribose 1-diphosphate biosynthetic process  purine nucleobase metabolic process  purine nucleotide biosynthetic process  AMP biosynthetic process  pyrimidine nucleotide biosynthetic process  nervous system development  AMP binding  kinase activity  phosphorylation  GDP binding  carbohydrate binding  organ regeneration  urate biosynthetic process  protein homodimerization activity  ADP binding  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
HOVERGENP60891
HOGENOMP60891
Homologs : HomoloGenePRPS1
Homology/Alignments : Family Browser (UCSC)PRPS1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPRPS1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PRPS1
dbVarPRPS1
ClinVarPRPS1
1000_GenomesPRPS1 
Exome Variant ServerPRPS1
ExAC (Exome Aggregation Consortium)PRPS1 (select the gene name)
Genetic variants : HAPMAP5631
Genomic Variants (DGV)PRPS1 [DGVbeta]
DECIPHER (Syndromes)X:106871654-106894256  ENSG00000147224
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]  
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] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM300661    301835    311070    311850   
Orphanet1444    23018    23019    23160    12045    14031   
MedgenPRPS1
Genetic Testing Registry PRPS1
NextProtP60891 [Medical]
TSGene5631
GENETestsPRPS1
Huge Navigator PRPS1 [HugePedia]
snp3D : Map Gene to Disease5631
BioCentury BCIQPRPS1
ClinGenPRPS1 (curated)
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5631
Chemical/Pharm GKB GenePA33817
Clinical trialPRPS1
Miscellaneous
canSAR (ICR)PRPS1 (select the gene name)
Probes
Litterature
PubMed61 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePRPS1
EVEXPRPS1
GoPubMedPRPS1
iHOPPRPS1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 13:23:08 CET 2017

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