PUS10 Gene
protein-coding GIFtS: 46
GCID: GC02M061167
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pseudouridylate synthase 10(Previous name: coiled-coil domain containing 139 ) (Previous symbol: CCDC139)
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Aliases for PUS10 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb) About This Section
|
| Aliases |
|---|
| Pseudouridylate Synthase 101 2 | | TRNA-Uridine Isomerase2 3 | | CCDC1391 2 3 | | FLJ323121 | | DOBI2 3 5 | | Pseudouridine Synthase 102 | | Coiled-Coil Domain Containing 1391 2 | | Putative TRNA Pseudouridine Synthase Pus102 | | Coiled-Coil Domain-Containing Protein 1392 3 | | EC 5.4.99.-3 | | Psi55 Synthase2 3 | | PUS15 | | TRNA Pseudouridine 55 Synthase2 3 | | EC 5.4.998 | | TRNA Pseudouridylate Synthase2 3 | | |
Export aliases for PUS10 gene to outside databasesPrevious GC identifers: GC02M061023 GC02M060909 |
Summaries for PUS10 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| Entrez Gene summary for PUS10: Pseudouridination, the isomerization of uridine to pseudouridine, is the most common posttranscriptional nucleotidemodification found in RNA and is essential for biologic functions such as spliceosome biogenesis. Pseudouridylatesynthases, such as PUS10, catalyze pseudouridination of structural RNAs, including transfer, ribosomal, and splicingRNAs. These enzymes also act as RNA chaperones, facilitating the correct folding and assembly of tRNAs (McCleverty etal., 2007 (PubMed 17900615)).(supplied by OMIM, May 2009) UniProtKB/Swiss-Prot: PUS10_HUMAN, Q3MIT2Function: Pseudouridylate synthases catalyze pseudouridination of structural RNAs, including transfer, ribosomal, andsplicing RNAs. PUS10 catalyzes the formation of the universal psi55 in the GC loop of transfer RNAs (Probable).Modulator of TRAIL-induced cell death via activation of procaspase 8 and BID cleavage. Required for the progression ofthe apoptotic signal through intrinsic mitochondrial cell death
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Genomic Views for PUS10 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_000002.11 NC_018913.1 NT_022184.15
Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the PUS10 gene promoter: p53 CUTL1 Tal-1beta E47 YY1 POU2F1 POU2F1b POU2F1a POU2F1c Pax-4a Other transcription factors
Search SABiosciences Chromatin IP Primers for PUS10
Epigenetics:
|  | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PUS10 |
Genomic Location: Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 2p16.1 Ensembl cytogenetic band: 2p16.1 HGNC cytogenetic band: 2p16.1PUS10 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)

GeneLoc information about chromosome 2 GeneLoc Exon Structure GeneLoc location for GC02M061167: view genomic region
(about GC identifiers)
Start:
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61,167,548 bp from pter |
End:
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61,245,389 bp from pter |
Size:
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77,842 bases |
Orientation:
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minus strand |
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Proteins for PUS10 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: PUS10_HUMAN, Q3MIT2 (See
protein sequence)Recommended Name: Putative tRNA pseudouridine synthase Pus10 Size: 529 amino acids; 60244 Da
Sequence caution: Sequence=CAI46123.1; Type=Miscellaneous discrepancy; Note=Partially unspliced pre-RNA;
1 PDB 3D structure from and Proteopedia for PUS10:2V9K (3D)
 
Secondary accessions: Q5JPJ5 Q96MI8Explore the universe of human proteins at neXtProt for PUS10: NX_Q3MIT2
Post-translational modifications:
Proteolytically cleaved during TRAIL-induced cell death. Cleaved, in vitro, either by caspase-3 or caspase-81
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q3MIT2 2 DME Specific Peptides for PUS10 (Q3MIT2)
PUS10 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_653310.2 ENSEMBL proteins: ENSP00000326003 ENSP00000386074 ENSP00000403880 ENSP00000402185 ENSP00000381651 Human Recombinant Protein Products:
PUS10 Antibody Products: Assay Products for PUS10: |
Protein
Domains / Families for PUS10 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
PUS10 for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry Q3MIT2ProtoNet protein and cluster: Q3MIT2 UniProtKB/Swiss-Prot: PUS10_HUMAN, Q3MIT2Similarity: Belongs to the pseudouridine synthase Pus10 family |
Function for PUS10 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: PUS10_HUMAN, Q3MIT2Function: Pseudouridylate synthases catalyze pseudouridination of structural RNAs, including transfer, ribosomal, andsplicing RNAs. PUS10 catalyzes the formation of the universal psi55 in the GC loop of transfer RNAs (Probable).Modulator of TRAIL-induced cell death via activation of procaspase 8 and BID cleavage. Required for the progression ofthe apoptotic signal through intrinsic mitochondrial cell deathCatalytic activity: tRNA uridine = tRNA pseudouridineEnzyme Numbers (IUBMB): EC 5.4.992 EC 5.4.99.-1
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 PUS10 (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PUS10 OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: PUS10 (NM_144709) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for PUS10 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PUS10  |
In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PUS10 |
Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0003723 | RNA binding |
IEA | -- | | GO:0009982 | pseudouridine synthase activity |
IEA | -- |
PUS10 for ontologies About GeneDecksing
1 GenomeRNAi human phenotype for PUS10:
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Pathways & Interactions for PUS10 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:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for PUS10
STRING Interaction
Network Preview (showing 1 interactants - click image to see more details)
 1 Interacting protein for PUS10 (ENSP000003260034) via UniProtKB, MINT, STRING, and/or I2DAbout this table
Gene Ontology (GO): 2 biological process terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0001522 | pseudouridine synthesis |
IEA | -- | | GO:0008033 | tRNA processing |
IEA | -- |
PUS10 for ontologies About GeneDecksing
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Drugs & Compounds for PUS10 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 PUS10
2 HMDB Compounds for PUS10 About this table Search CenterWatch for drugs/clinical trials and news about PUS10 
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Transcripts for PUS10 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 PUS10 gene: NM_144709.2 Unigene Cluster for PUS10: Pseudouridylate synthase 10 Hs.368348 [show with all ESTs]Unigene Representative Sequence: AL8322085 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000316752(uc010fci.3 uc002sao.3 uc010ypk.2) ENST00000407787 ENST00000430495 ENST00000421319 ENST00000398658(uc002sap.1 uc002saq.1)
Clone Products: |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PUS10 (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PUS10 OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: PUS10 (NM_144709) | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for PUS10 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PUS10  |
Additional cDNA sequence: AK021502.1 AK056874.1 AK291729.1 AL832208.1 BC060323.1 BC065197.1 BC101680.1 BC101706.1 BC143480.1 9 DOTS entries: DT.410843 DT.100744161 DT.97795960 DT.100806543 DT.102831152 DT.86852422 DT.95363132 DT.100745630 DT.95201729 24/59 AceView cDNA sequences (see all 59): BC065197 AK056874 AA813267 AW295480 AA992539 AA213623 BM742823 Z44756 NM_144709 AA731778 AK130934 AL832208 AA720884 AA213749 AW576368 F03741 BE046344 R37793 AW503429 BU624272 AK021502 BP354604 AA125988 AV700540 GeneLoc Exon Structure
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Expression for PUS10 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
| PUS10 expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this imageBioGPS CGAP TAG: TTCTAATTTT
About this image See PUS10 Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for PUS10
SOURCE GeneReport for Unigene cluster: Hs.368348 SABiosciences Custom PCR Arrays for PUS10
Primer Products: |  | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for PUS10 Browse OriGene validated miRNA SYBR primer pairs
| |  | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat PUS10 | |  | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PUS10 | |  | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PUS10 | In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PUS10 |
Orthologs for PUS10 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 common ancestor of eukaryotes.
Orthologs for PUS10 gene from 9/29 species (see all 29) About this table
ENSEMBL Gene Tree for PUS10 (if available) TreeFam Gene Tree for PUS10 (if available)  |
Paralogs for PUS10 gene(Paralogs according to
1HomoloGene, 2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68) About This Section
| -- |
Genomic Variants for PUS10 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 2 pos | Sequence | # | AA Chg | Type | More | # | Allele freq | Pop | Total sample | More |
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HapMap Linkage Disequilibrium report for PUS10 (61167548 - 61245389 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV): 3 variations for PUS10 3 CNVs: 2386 3361 8373  | SABiosciences Cancer Mutation PCR Assays |
|  | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing PUS10 |
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Disorders
/ Diseases for PUS10 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
|
PUS10 for disorders About GeneDecksing
OMIM gene information: 612787
OMIM disorders: --
6 diseases for PUS10: About MalaCardsankylosing spondylitis conduct disorder ulcerative colitis spondylitis celiac disease crohn's disease Human Genome Epidemiology (HuGE) Navigator: PUS10 (7 documents) Export disorders for PUS10 gene to outside databases
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Publications for PUS10 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 PUS10 gene, integrated from 9 sources (see all 21): (articles sorted by number of sources associating them with PUS10) | |  | Utopia: connect your pdf to the dynamic world of online information |
- Crystal structure of human Pus10, a novel pseudouridine synthase. (PubMed id 17900615)1, 2, 3 McCleverty C.J.... Kreusch A. (2007)
- DOBI is cleaved by caspases during TRAIL-induced apop totic cell death. (PubMed id 19712588)1, 2 Park S.Y....Kim T.H. (2009)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
- Identification of modulators of TRAIL-induced apoptosis via RNAi-based phenotypic screening. (PubMed id 14527409)1, 2 Aza-Blanc P....Cooke M.P. (2003)
- A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci. (PubMed id 22412388)1 Kenny E.E....Peter I. (2012)
- A meta-analysis of genome-wide association scans iden tifies IL18RAP, PTPN2, TAGAP, and PUS10 as shared risk loci for Crohn's disease and celiac disease. (PubMed id 21298027)1 Festen E.A....Rioux J.D. (2011)
- Meta-analysis identifies 29 additional ulcerative col itis risk loci, increasing the number of confirmed associations to 47. (PubMed id 21297633)1 Anderson C.A....Rioux J.D. (2011)
- Evidence for significant overlap between common risk variants for Crohn's disease and ankylosing spondylitis. (PubMed id 21072187)1 Laukens D....De Vos M. (2010)
- Genome-wide association identifies multiple ulcerativ e colitis susceptibility loci. (PubMed id 20228799)1 McGovern D.P....Weersma R.K. (2010)
- Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci. (PubMed id 21102463)1 Franke A....Parkes M. (2010)
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External Searches for PUS10 gene
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
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Genome Databases showing PUS10 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing PUS10 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing PUS10 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 PUS10 | Pharmacogenomics, SNPs, Pathways |
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| | |
About This Section
| Patent Information for PUS10 gene: Search GeneIP for patents involving PUS10
GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products for PUS10 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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 | |
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| | | | Browse OriGene Antibodies | | OriGene shRNA RFP for PUS10 | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PUS10 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for PUS10 | | OriGene Protein Over-expression Lysate for PUS10 | | Browse OriGene Fluorogenic Cell Assay Kits | | OriGene siRNA for PUS10 | | OriGene 3'-UTR Clone for PUS10 | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PUS10 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PUS10 | | 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 | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | OriGene Custom Antibody Services for PUS10 | | OriGene Custom Protein Services for PUS10 | | OriGene Custom Immunoassay Development | | |
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| | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat PUS10 | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing PUS10 | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PUS10 | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PUS10 | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PUS10 | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PUS10 |
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| | | Search Tocris compounds for PUS10 |
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 | | PUS10 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PUS10 |
|  |  |  | | | Search ThermoFisher Antibodies for PUS10 |
| | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PUS10 |
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