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PRPSAP1 (phosphoribosyl pyrophosphate synthetase associated protein 1)

Identity

Alias_symbol (synonym)PAP39
Other alias
HGNC (Hugo) PRPSAP1
LocusID (NCBI) 5635
Atlas_Id 54555
Location 17q25.1  [Link to chromosome band 17q25]
Location_base_pair Starts at 76310736 and ends at 76354149 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
CYTH1 (17q25.3) / PRPSAP1 (17q25.1)PRPSAP1 (17q25.1) / ST6GALNAC2 (17q25.1)PRPSAP1 17q25.1 / ST6GALNAC2 17q25.1

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)PRPSAP1   9466
Cards
Entrez_Gene (NCBI)PRPSAP1  5635  phosphoribosyl pyrophosphate synthetase associated protein 1
AliasesPAP39
GeneCards (Weizmann)PRPSAP1
Ensembl hg19 (Hinxton)ENSG00000161542 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000161542 [Gene_View]  chr17:76310736-76354149 [Contig_View]  PRPSAP1 [Vega]
ICGC DataPortalENSG00000161542
TCGA cBioPortalPRPSAP1
AceView (NCBI)PRPSAP1
Genatlas (Paris)PRPSAP1
WikiGenes5635
SOURCE (Princeton)PRPSAP1
Genetics Home Reference (NIH)PRPSAP1
Genomic and cartography
GoldenPath hg38 (UCSC)PRPSAP1  -     chr17:76310736-76354149 -  17q25.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PRPSAP1  -     17q25.1   [Description]    (hg19-Feb_2009)
EnsemblPRPSAP1 - 17q25.1 [CytoView hg19]  PRPSAP1 - 17q25.1 [CytoView hg38]
Mapping of homologs : NCBIPRPSAP1 [Mapview hg19]  PRPSAP1 [Mapview hg38]
OMIM601249   
Gene and transcription
Genbank (Entrez)AI289298 AK092626 AK131332 AK298171 AK312637
RefSeq transcript (Entrez)NM_001330503 NM_002766
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PRPSAP1
Cluster EST : UnigeneHs.77498 [ NCBI ]
CGAP (NCI)Hs.77498
Alternative Splicing GalleryENSG00000161542
Gene ExpressionPRPSAP1 [ NCBI-GEO ]   PRPSAP1 [ EBI - ARRAY_EXPRESS ]   PRPSAP1 [ SEEK ]   PRPSAP1 [ MEM ]
Gene Expression Viewer (FireBrowse)PRPSAP1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5635
GTEX Portal (Tissue expression)PRPSAP1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ14558   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ14558  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ14558
Splice isoforms : SwissVarQ14558
PhosPhoSitePlusQ14558
Domains : Interpro (EBI)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)PRPSAP1
DMDM Disease mutations5635
Blocks (Seattle)PRPSAP1
PDB (SRS)2C4K   
PDB (PDBSum)2C4K   
PDB (IMB)2C4K   
PDB (RSDB)2C4K   
Structural Biology KnowledgeBase2C4K   
SCOP (Structural Classification of Proteins)2C4K   
CATH (Classification of proteins structures)2C4K   
SuperfamilyQ14558
Human Protein AtlasENSG00000161542
Peptide AtlasQ14558
HPRD03151
IPIIPI00291578   IPI00797603   IPI00924809   IPI00925025   IPI00925241   IPI00925457   IPI00925704   
Protein Interaction databases
DIP (DOE-UCLA)Q14558
IntAct (EBI)Q14558
FunCoupENSG00000161542
BioGRIDPRPSAP1
STRING (EMBL)PRPSAP1
ZODIACPRPSAP1
Ontologies - Pathways
QuickGOQ14558
Ontology : AmiGOmagnesium ion binding  ribose phosphate diphosphokinase activity  enzyme inhibitor activity  protein binding  nucleobase-containing compound metabolic process  nucleotide biosynthetic process  identical protein binding  negative regulation of catalytic activity  
Ontology : EGO-EBImagnesium ion binding  ribose phosphate diphosphokinase activity  enzyme inhibitor activity  protein binding  nucleobase-containing compound metabolic process  nucleotide biosynthetic process  identical protein binding  negative regulation of catalytic activity  
NDEx NetworkPRPSAP1
Atlas of Cancer Signalling NetworkPRPSAP1
Wikipedia pathwaysPRPSAP1
Orthology - Evolution
OrthoDB5635
GeneTree (enSembl)ENSG00000161542
Phylogenetic Trees/Animal Genes : TreeFamPRPSAP1
HOVERGENQ14558
HOGENOMQ14558
Homologs : HomoloGenePRPSAP1
Homology/Alignments : Family Browser (UCSC)PRPSAP1
Gene fusions - Rearrangements
Fusion : MitelmanCYTH1/PRPSAP1 [17q25.3/17q25.1]  [del(17)(q25)]  [del(17)(q25q25)]  
[t(17;17)(q25;q25)]  
Fusion : MitelmanPRPSAP1/ST6GALNAC2 [17q25.1/17q25.1]  [t(17;17)(q25;q25)]  
Fusion: TCGAPRPSAP1 17q25.1 ST6GALNAC2 17q25.1 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPRPSAP1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PRPSAP1
dbVarPRPSAP1
ClinVarPRPSAP1
1000_GenomesPRPSAP1 
Exome Variant ServerPRPSAP1
ExAC (Exome Aggregation Consortium)PRPSAP1 (select the gene name)
Genetic variants : HAPMAP5635
Genomic Variants (DGV)PRPSAP1 [DGVbeta]
DECIPHERPRPSAP1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPRPSAP1 
Mutations
ICGC Data PortalPRPSAP1 
TCGA Data PortalPRPSAP1 
Broad Tumor PortalPRPSAP1
OASIS PortalPRPSAP1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPRPSAP1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPRPSAP1
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 PRPSAP1
DgiDB (Drug Gene Interaction Database)PRPSAP1
DoCM (Curated mutations)PRPSAP1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PRPSAP1 (select a term)
intoGenPRPSAP1
Cancer3DPRPSAP1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM601249   
Orphanet
MedgenPRPSAP1
Genetic Testing Registry PRPSAP1
NextProtQ14558 [Medical]
TSGene5635
GENETestsPRPSAP1
Huge Navigator PRPSAP1 [HugePedia]
snp3D : Map Gene to Disease5635
BioCentury BCIQPRPSAP1
ClinGenPRPSAP1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5635
Chemical/Pharm GKB GenePA33821
Clinical trialPRPSAP1
Miscellaneous
canSAR (ICR)PRPSAP1 (select the gene name)
Probes
Litterature
PubMed31 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePRPSAP1
EVEXPRPSAP1
GoPubMedPRPSAP1
iHOPPRPSAP1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri May 19 12:33:01 CEST 2017

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