PRPSAP1 Gene
protein-coding GIFtS: 53
GCID: GC17M074306
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phosphoribosyl pyrophosphate synthetase-associated protein...
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Aliases for PRPSAP1 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb) About This Section
|
| Aliases |
|---|
| Phosphoribosyl Pyrophosphate Synthetase-Associated Protein 11 2 | | PAP391 2 3 | | 39 KDa Phosphoribosypyrophosphate Synthase-Associated Protein2 3 | | PRPP Synthase-Associated Protein 12 3 | | Phosphoribosyl Pyrophosphate Synthase-Associated Protein 12 |
Export aliases for PRPSAP1 gene to outside databasesPrevious GC identifers: GC17M074165 GC17M077298 GC17M074771 GC17M074904 GC17M071818 GC17M069735 |
Summaries for PRPSAP1 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| UniProtKB/Swiss-Prot: KPRA_HUMAN, Q14558Function: Seems to play a negative regulatory role in 5-phosphoribose 1-diphosphate synthesis Gene Wiki entry for PRPSAP1
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Genomic Views for PRPSAP1 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics) About This Section
| RefSeq DNA sequence:- NC_000017.10 NC_018928.1 NT_010783.15
Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the PRPSAP1 gene promoter: AP-2alpha isoform 3 AP-2alpha isoform 4 AP-2alpha isoform 2 AP-2alpha AP-2alphaA Other transcription factors
Search SABiosciences Chromatin IP Primers for PRPSAP1
Epigenetics:
|  | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PRPSAP1 |
Genomic Location: Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 17q24-q25 Ensembl cytogenetic band: 17q25.1 HGNC cytogenetic band: 17q24-q25PRPSAP1 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)

GeneLoc information about chromosome 17 GeneLoc Exon Structure GeneLoc location for GC17M074306: view genomic region
(about GC identifiers)
Start:
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74,305,567 bp from pter |
End:
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74,380,602 bp from pter |
Size:
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75,036 bases |
Orientation:
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minus strand |
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Proteins for PRPSAP1 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
| UniProtKB/Swiss-Prot: KPRA_HUMAN, Q14558 (See
protein sequence)Recommended Name: Phosphoribosyl pyrophosphate synthase-associated protein 1 Size: 356 amino acids; 39394 Da
Subunit: Binds to PRPS1 and PRPS2
Sequence caution: Sequence=BAG35521.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
1 PDB 3D structure from and Proteopedia for PRPSAP1:2C4K (3D)
 
Secondary accessions: B2R6M4 Q96H06Alternative splicing: 2 isoforms: Q14558-1 Q14558-2 Explore the universe of human proteins at neXtProt for PRPSAP1: NX_Q14558
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q14558 PRPSAP1 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_002757.2 ENSEMBL proteins: ENSP00000414624 ENSP00000314973 ENSP00000392838 ENSP00000387494 ENSP00000409190 ENSP00000402126 Human Recombinant Protein Products:
Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0002189 | ribose phosphate diphosphokinase complex |
IEA | -- | | GO:0043234 | protein complex |
-- | -- |
PRPSAP1 for ontologies About GeneDecksing
PRPSAP1 Antibody Products: Assay Products for PRPSAP1: |
Protein
Domains / Families for PRPSAP1 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
PRPSAP1 for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry Q14558ProtoNet protein and cluster: Q14558 UniProtKB/Swiss-Prot: KPRA_HUMAN, Q14558Similarity: Belongs to the ribose-phosphate pyrophosphokinase family |
Function for PRPSAP1 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
| Function Summary: UniProtKB/Swiss-Prot: KPRA_HUMAN, Q14558Function: Seems to play a negative regulatory role in 5-phosphoribose 1-diphosphate synthesis Genatlas biochemistry entry for PRPSAP1:phosphoribosylpyrophosphate synthetase-associated protein,39kDa
Clone Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PRPSAP1 (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PRPSAP1 (see all 3) OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: PRPSAP1 (NM_002766) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for PRPSAP1 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PRPSAP1  |
In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PRPSAP1 |
Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view): About this table
PRPSAP1 for ontologies About GeneDecksing
1 GenomeRNAi human phenotype for PRPSAP1:
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Pathways & Interactions for PRPSAP1 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PRPSAP1
STRING Interaction
Network Preview (showing 5 interactants - click image to see 15)
 5/33 Interacting proteins for PRPSAP1 (Q145582, 3 ENSP000004146244) via UniProtKB, MINT, STRING, and/or I2D (see all 33)About this table
Gene Ontology (GO): 5 biological process terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0006139 | nucleobase-containing compound metabolic process |
TAS | 8611620 | | GO:0009165 | nucleotide biosynthetic process |
IEA | -- | | GO:0033673 | negative regulation of kinase activity |
IEA | -- | | GO:0043086 | negative regulation of catalytic activity |
-- | -- | | GO:0050790 | regulation of catalytic activity |
-- | -- |
PRPSAP1 for ontologies About GeneDecksing
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Drugs & Compounds for PRPSAP1 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
Browse Tocris compounds for PRPSAP1 Search CenterWatch for drugs/clinical trials and news about PRPSAP1 / KPRA 
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Transcripts for PRPSAP1 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
) About This Section
| REFSEQ mRNAs for PRPSAP1 gene: NM_002766.2 Unigene Cluster for PRPSAP1: Phosphoribosyl pyrophosphate synthetase-associated protein 1 Hs.77498 [show with all ESTs]Unigene Representative Sequence: NM_00276612 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000446526(uc010wta.1) ENST00000324684(uc010wtb.1) ENST00000588364 ENST00000592474 ENST00000488339 ENST00000435555 ENST00000472686 ENST00000586137 ENST00000436498 ENST00000494662 ENST00000423915 ENST00000442767
Clone Products: |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PRPSAP1 (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PRPSAP1 (see all 3) OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: PRPSAP1 (NM_002766) | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for PRPSAP1 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PRPSAP1  |
Additional cDNA sequence: AK092626.1 AK131332.1 AK298171.1 AK312637.1 BC009012.1 D61391.1 10 DOTS entries: DT.446627 DT.99968566 DT.91759025 DT.121009346 DT.86856931 DT.86854893 DT.95073686 DT.91759029 DT.100830844 DT.95119243 24/297 AceView cDNA sequences (see all 297): CA447711 BQ676931 BU186175 BM547340 AI081984 BQ014476 BU187094 AI538110 AA284525 BQ677842 AW269480 BQ680871 BU689612 AA548855 AI289298 N44997 CN482681 BQ681429 BQ683561 BQ430183 BQ684538 CB852654 CF131042 BM752722 GeneLoc Exon Structure
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Expression for PRPSAP1 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| PRPSAP1 expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this imageBioGPS CGAP TAG: TTGTTACATC
About this image See PRPSAP1 Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for PRPSAP1
SOURCE GeneReport for Unigene cluster: Hs.77498 UniProtKB/Swiss-Prot: KPRA_HUMAN, Q14558Tissue specificity: Ubiquitous SABiosciences Custom PCR Arrays for PRPSAP1
Primer Products: |  | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for PRPSAP1 Browse OriGene validated miRNA SYBR primer pairs
| |  | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat PRPSAP1 | |  | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PRPSAP1 | |  | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PRPSAP1 | In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PRPSAP1 |
Orthologs for PRPSAP1 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the last universal common ancestor (LUCA).
Orthologs for PRPSAP1 gene from 9/33 species (see all 33) About this table
ENSEMBL Gene Tree for PRPSAP1 (if available) TreeFam Gene Tree for PRPSAP1 (if available)  |
Paralogs for PRPSAP1 gene(Paralogs according to
1HomoloGene, 2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68) About This Section
| Paralogs for PRPSAP1 gene
- PRPS12 PRPS22 PRPSAP22 PRPS1L12
4 SIMAP similar genes for PRPSAP1 using alignment to 6 protein entries: KPRA_HUMAN (see all proteins):PRPSAP2 PRPS2 PRPS1L1 PRPS1
PRPSAP1 for paralogs About GeneDecksing
|
Genomic Variants for PRPSAP1 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical significance | Chr 17 pos | Sequence | # | AA Chg | Type | More | # | Allele freq | Pop | Total sample | More |
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HapMap Linkage Disequilibrium report for PRPSAP1 (74305567 - 74380602 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV): 2 variations for PRPSAP1 2 CNVs: 67264 5032  | SABiosciences Cancer Mutation PCR Assays |
|  | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing PRPSAP1 |
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Disorders
/ Diseases for PRPSAP1 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
PRPSAP1 for disorders About GeneDecksing
OMIM gene information: 601249
OMIM disorders: --
6 diseases for PRPSAP1: About MalaCardsmitral valve stenosis osteogenesis imperfecta pneumonia tuberculosis malaria mycobacterium tuberculosis 1 disease from the University of Copenhagen DISEASES database for PRPSAP1:Hyperuricemia Export disorders for PRPSAP1 gene to outside databases
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Publications for PRPSAP1 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for PRPSAP1 gene, integrated from 9 sources (see all 25): (articles sorted by number of sources associating them with PRPSAP1) | |  | Utopia: connect your pdf to the dynamic world of online information |
- The human phosphoribosylpyrophosphate synthetase-associated protein 39 gene (PRPSAP1) is located in the chromosome region 17q24-q25. (PubMed id 8660991)1, 3, 9 Ishizuka T....Tatibana M. (1996)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- Cloning and sequencing of human complementary DNA for the phosphoribosylpyrophosphate synthetase-associated protein 39. (PubMed id 8611620)1, 2 Ishizuka T....Tatibana M. (1996)
- Mammalian phosphoribosyl-pyrophosphate synthetase. (PubMed id 7572345)1, 9 Tatibana M....Ahmad I. (1995)
- A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
- Charting the landscape of tandem BRCT domain-mediated protein interactions. (PubMed id 22990118)1 Woods N.T....Monteiro A.N. (2012)
- A high-throughput approach for measuring temporal chan ges in the interactome. (PubMed id 22863883)1 Kristensen A.R....Foster L.J. (2012)
- Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
- Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
- Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
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External Searches for PRPSAP1 gene
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
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Genome Databases showing PRPSAP1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing PRPSAP1 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing PRPSAP1 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
|
| Name | Description |
| PharmGKB entry for PRPSAP1 | Pharmacogenomics, SNPs, Pathways |
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| | |
About This Section
| Patent Information for PRPSAP1 gene: Search GeneIP for patents involving PRPSAP1
GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products for PRPSAP1 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences), In Situ Hybridization Assays from Advanced Cell Diagnostics About This Section
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| | | | OriGene Antibodies for PRPSAP1 | | OriGene shRNA RFP for PRPSAP1 | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PRPSAP1 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for PRPSAP1 | | OriGene Protein Over-expression Lysate for PRPSAP1 | | Browse OriGene Fluorogenic Cell Assay Kits | | OriGene siRNA for PRPSAP1 | | OriGene 3'-UTR Clone for PRPSAP1 | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PRPSAP1 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PRPSAP1 | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | OriGene Purified Protein for PRPSAP1 | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | OriGene Custom Antibody Services for PRPSAP1 | | OriGene Custom Protein Services for PRPSAP1 | | OriGene Custom Immunoassay Development | | |
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| | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat PRPSAP1 | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing PRPSAP1 | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PRPSAP1 | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PRPSAP1 | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PRPSAP1 | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PRPSAP1 |
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 | | PRPSAP1 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PRPSAP1 |
|  |  |  | | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PRPSAP1 |
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