SHPK Gene
protein-coding GIFtS: 48
GCID: GC17M003514
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sedoheptulokinase(Previous name: carbohydrate kinase-like )
(Previous symbol: CARKL)
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Aliases
for SHPK gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Sedoheptulokinase1 | | CARKL1 2 3 5 | | SHK1 2 3 | | Carbohydrate Kinase-Like Protein2 3 | | Carbohydrate Kinase-Like1 | | EC 2.7.1.143 |
Export aliases for SHPK gene to outside databasesPrevious GC identifers: GC17M003459 GC17M003403 |
Summaries
for SHPK 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 SHPK:
The protein encoded by this gene has weak homology to several carbohydrate kinases, a class of proteins involved in thephosphorylation of sugars as they enter a cell, inhibiting return across the cell membrane. Sequence variation betweenthis novel gene and known carbohydrate kinases suggests the possibility of a different substrate, cofactor or changesin kinetic properties distinguishing it from other carbohydrate kinases. The gene resides in a region commonly deletedin cystinosis patients, suggesting a role as a modifier for the cystinosis phenotype. The genomic region is also richin Alu repetitive sequences, frequently involved in chromosomal rearrangements. (provided by RefSeq, Jul 2008)
UniProtKB/Swiss-Prot: SHPK_HUMAN, Q9UHJ6Function: Acts as a modulator of macrophage activation through control of glucose metabolism (By similarity)
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Genomic Views
for SHPK 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_010718.16
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the SHPK gene promoter:
USF1 AML1a Tal-1 E47 FAC1 FOXJ2 (long isoform) USF-1 FOXJ2 ZID
Other transcription factors
Search SABiosciences Chromatin IP Primers for SHPK
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SHPK |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 17p13 Ensembl cytogenetic band: 17p13.2 HGNC cytogenetic band: 17p13SHPK 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 GC17M003514: view genomic region
(about GC identifiers)
Start:
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3,511,556 bp from pter |
End:
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3,539,616 bp from pter |
Size:
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28,061 bases |
Orientation:
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minus strand |
1 alternative location:
| Chr17- 3,468,738-3,539,543 |
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Proteins
for SHPK 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: SHPK_HUMAN, Q9UHJ6 (See
protein sequence)Recommended Name: Sedoheptulokinase Size: 478 amino acids; 51491 Da
Subcellular location: Cytoplasm (By similarity)
Secondary accessions: B2R640 Q8WUH3Explore the universe of human proteins at neXtProt for SHPK: NX_Q9UHJ6
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q9UHJ6
SHPK Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_037408.2
ENSEMBL proteins: ENSP00000225519
Human Recombinant Protein Products:
Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005737 | cytoplasm |
ISS | -- |
SHPK for ontologies About GeneDecksing
SHPK Antibody Products:
Assay Products for SHPK: |
Protein
Domains /
Families
for SHPK gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
SHPK for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry Q9UHJ6ProtoNet protein and cluster: Q9UHJ6 UniProtKB/Swiss-Prot: SHPK_HUMAN, Q9UHJ6Similarity: Belongs to the FGGY kinase family |
Function
for SHPK 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: SHPK_HUMAN, Q9UHJ6Function: Acts as a modulator of macrophage activation through control of glucose metabolism (By similarity)Catalytic activity: ATP + sedoheptulose = ADP + sedoheptulose 7-phosphateBiophysicochemical properties: Kinetic parameters: KM=0.06 mM for sedoheptulose; pH dependence: Optimum pH is 8.5;Induction: Down-regulated by LPSEnzyme Number (IUBMB): EC 2.7.1.141
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 SHPK (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SHPK (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: SHPK (NM_013276) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for SHPK | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SHPK |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SHPK |
Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table
SHPK for ontologies About GeneDecksing
1 GenomeRNAi human phenotype for SHPK:
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Pathways & Interactions
for SHPK 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 SHPK
STRING Interaction
Network Preview (showing 2 interactants - click image to see more details)
2 Interacting proteins for SHPK (ENSP000002255194) via UniProtKB, MINT, STRING, and/or I2DAbout this table
Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8): About this table
SHPK for ontologies About GeneDecksing
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Drugs & Compounds
for SHPK 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 SHPK
6 HMDB Compounds for SHPK About this table
| Compound | Synonyms |
CAS
# | PubMed Ids |
|---|
| ADP | adenosindiphosphorsaeure (see all 8) | 58-64-0 | -- | | Adenosine triphosphate | 5'-(tetrahydrogen triphosphate) Adenosine (see all 24) | 56-65-5 | -- | | D-Sedoheptulose 7-phosphate | 7-(dihydrogen phosphate) sedoheptulose (see all 9) | 2646-35-7 | -- | | Inositol 1,3,4,5,6-pentakisphosphate | 1D-myo-Inositol 1,3,4,5,6-pentakisphosphate (see all 5) | 20298-95-7 | -- | | Myo-inositol hexakisphosphate | 1D-myo-Inositol 1,2,3,4,5,6-hexakisphosphate (see all 9) | 83-86-3 | -- | | Sedoheptulose | D-Altro-2-heptulose (see all 4) | 3019-74-7 | -- |
Search CenterWatch for drugs/clinical trials and news about SHPK
|
Transcripts
for SHPK 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 SHPK gene: NM_013276.2 Unigene Cluster for SHPK: Sedoheptulokinase Hs.579217 [show with all ESTs]Unigene Representative Sequence: AF1635731 Ensembl transcript including schematic representation, and UCSC links where relevant: ENST00000225519(uc002fvz.1)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SHPK (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SHPK (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: SHPK (NM_013276) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for SHPK | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SHPK |
Additional cDNA sequence: AF163573.1 AK055609.1 AK057020.1 AK057040.1 AK298360.1 AK312428.1 AL832420.1 BC020543.1 BC111366.1 4 DOTS entries: DT.428676 DT.97819296 DT.97806108 DT.102826144 24/121 AceView cDNA sequences (see all 121): BM676314 CK300648 AA411042 AF163573 BM014650 BM704676 AA331298 BQ959791 BX096339 CA307823 AI245655 BQ187326 BQ676342 AA325795 NM_013276 BP346171 CB044884 AJ277028 AA700014 AA410918 AA313583 NM_080706 AF196176 BM832559
GeneLoc Exon Structure
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Expression
for SHPK 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
| SHPK expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GGTTCAGTTA
About this image
See SHPK Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for SHPK
SOURCE GeneReport for Unigene cluster: Hs.579217
UniProtKB/Swiss-Prot: SHPK_HUMAN, Q9UHJ6Tissue specificity: Strongly expressed in liver, kidney and pancreas. Expressed at lower levels in placenta and heart.Very weakly expressed in lung and brain
SABiosciences Custom PCR Arrays for SHPK
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for SHPK
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat SHPK | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SHPK | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SHPK | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SHPK |
Orthologs
for SHPK 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 animals.
Orthologs for SHPK gene from 5/16 species (see all 16) About this table
ENSEMBL Gene Tree for SHPK (if available)
TreeFam Gene Tree for SHPK (if available) |
Paralogs
for SHPK gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| -- |
Genomic Variants
for SHPK 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 |
|---|
HapMap Linkage Disequilibrium report for SHPK (3511556 - 3539616 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 3 variations for SHPK
3 CNVs: 53542 4982 49851 | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SHPK |
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Disorders
/ Diseases
for SHPK 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
|
SHPK for disorders About GeneDecksing
OMIM gene information: 605060
OMIM disorders: --
3  diseases for SHPK: About MalaCardscystinosis nephropathic cystinosis alcoholism
1 disease from the University of Copenhagen DISEASES database for SHPK:Cystinosis Human Genome Epidemiology (HuGE) Navigator: SHPK (4 documents)
Export disorders for SHPK gene to outside databases
|
Publications
for SHPK 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 SHPK gene, integrated from 9 sources (see all 17):
(articles sorted by number of sources associating them with SHPK) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Sedoheptulokinase deficiency due to a 57-kb deletion in cystinosis patients causes urinary accumulation of sedoheptulose: elucidation of the CARKL gene. (PubMed id 18186520)1, 2, 3, 9 Wamelink M.M....Wevers R.A. (2008)
- The genomic region encompassing the nephropathic cystinosis gene (CTNS): complete sequencing of a 200-kb segment and discovery of a novel gene within the common cystinosis-causing deletion. (PubMed id 10673275)1, 2, 3, 9 Touchman J.W....Green E.D. (2000)
- The sedoheptulose kinase CARKL directs macrophage polarization through control of glucose metabolism. (PubMed id 22682222)1, 2 Haschemi A.... Wagner O. (2012)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
- Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (2012)
- Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
- Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
- Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
- Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1 Bailey S.D....Anand S. (2010)
- Gene-centric association signals for lipids and apoli poproteins identified via the HumanCVD BeadChip. (PubMed id 19913121)1 Talmud P.J.... . (2009)
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External Searches for SHPK gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
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Genome Databases showing SHPK gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing SHPK gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing SHPK 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 SHPK | Pharmacogenomics, SNPs, Pathways |
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| | |
About This Section
| Patent Information for SHPK gene:
Search GeneIP for patents involving SHPK
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for SHPK 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
|
 | |
 | |
 |
| | |  | OriGene Antibodies for SHPK | | OriGene shRNA RFP for SHPK | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SHPK | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for SHPK | | | OriGene Protein Over-expression Lysate for SHPK | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for SHPK | | OriGene 3'-UTR Clone for SHPK | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SHPK | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SHPK | | | 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 SHPK | | OriGene Custom Protein Services for SHPK | | | OriGene Custom Immunoassay Development | | |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat SHPK | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SHPK | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SHPK | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SHPK | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SHPK | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SHPK |
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| | | | Search Tocris compounds for SHPK |
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 | | | SHPK Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SHPK |
|  |  |  | | | | ThermoFisher Antibodies for SHPK |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SHPK |
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