SHQ1 Gene protein-coding GIFtS : 49 GCID: GC03 M072883
SHQ1, H/ACA Ribonucleoprotein Assembly Factor SHQ1 homolog (S. cerevisiae) )
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Aliasesfor SHQ1 gene
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc ,
7 Ensembl ,
8 DME ,
9 miRBase ,
10 fRNAdb ,
12 H-InvDB ,
13 NCBI ,
14 NONCODE ,
and/or 15 RNAdb )About This Section Aliases SHQ1, H/ACA Ribonucleoprotein Assembly Factor 1 2 SHQ1 Homolog (S. Cerevisiae)1 Shq1p2 Protein SHQ1 Homolog2 SHQ1 Homolog2
Export aliases for SHQ1 gene to outside databases
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Summariesfor SHQ1 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 SHQ1 Gene: SHQ1 assists in the assembly of H/ACA-box ribonucleoproteins that function in the processing of ribosomal RNAs,modification of spliceosomal small nuclear RNAs, and stabilization of telomerase (see MIM 602322) (Grozdanov etal., 2009 (PubMed 19383767)).(supplied by OMIM, Dec 2010) GeneCards Summary for SHQ1 Gene: SHQ1 (SHQ1, H/ACA ribonucleoprotein assembly factor) is a protein-coding gene. Diseases associated with SHQ1 include dyskeratosis congenita protein binding . UniProtKB/Swiss-Prot: SHQ1_HUMAN, Q6PI26 Function : Required for the quantitative accumulation of H/ACA ribonucleoproteins (RNPs), including telomerase,probably through the stabilization of DKC1, from the time of its synthesis until its association with NOP10,NHP2, and NAF1 at the nascent H/ACA RNA
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Genomic Viewsfor SHQ1 gene
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 37) ,miRBase ,UCSC (hg19) and
Ensembl (release 73) ,
Regulatory elements and Epigenetics data according to
QIAGEN ,
SABiosciences , and/or
SwitchGear Genomics )About This Section RefSeq DNA sequence: NC_000003.11 NT_022459.15 NC_018914.2 Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the SHQ1 gene promoter:Nkx3-1 Nkx2-2 GCNF Nkx3-1 v1 CREB Nkx3-1 v2 deltaCREB GCNF-1 Nkx3-1 v3 GCNF-2 Other transcription factors Search SABiosciences Chromatin IP Primers for SHQ1 Epigenetics: QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human mouse rat
Genomic Location: Genomic View : UCSC Golden Path with GeneCards custom track Entrez Gene cytogenetic band: 3p13 Ensembl cytogenetic band: 3p13 HGNC cytogenetic band: 3p13 SHQ1 Gene in genomic location: bands according to Ensembl, locations according to
Entrez Gene Ensembl GeneLoc information about chromosome 3 GeneLoc Exon Structure
GeneLoc location for GC03M072883: view genomic region
(about GC identifiers )
Start: 72,798,428 bp from pter End:
72,911,065 bp from pter
Size: 112,638 bases Orientation:
minus strand
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Proteinsfor SHQ1 gene
(According to
UniProtKB ,
HORDE ,
neXtProt ,
Ensembl ,
and/or Reactome ,
Modification sites according to PhosphoSitePlus ,
Specific Peptides from DME ,
Protein expression images according to data from SPIRE 1 MOPED ,
2 PaxDb , and 3 MAXQB
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
Cloud-Clone Corp. ,
EMD Millipore ,
R&D Systems ,
OriGene ,
GenScript ,
Cell Signaling Technology ,
Enzo Life Sciences , and/or
Cloud-Clone Corp. ,
Ontologies according to Gene
Ontology Consortium 01 Oct 2013 and
Entrez Gene ,
Antibodies by
EMD Millipore ,
R&D Systems ,
GenScript ,
Cell Signaling Technology ,
OriGene ,
Novus Biologicals ,
Thermo Fisher Scientific ,
LSBio ,
Abcam , and/or
Cloud-Clone Corp. )
About This Section UniProtKB/Swiss-Prot: SHQ1_HUMAN, Q6PI26 See
protein sequence )Recommended Name: Size : 577 amino acids; 65125 DaSubunit : Directly interacts with DKC1 alone, but not in the context of the core trimer composed of DKC1, NOP10 andNHP2, nor in the presence of NAF1. Does not interact with NAF1
Subcellular location : Cytoplasm, cytosol. Nucleus, nucleoplasm. Note=May at least partially shuttle betweencytosol and nucleoplasm. In the nucleoplasm, exhibits a granular pattern, but is excluded from nucleoli and Cajalbodies. Absent from most H/ACA-box RNA transcription sites
Sequence caution : Sequence=BAA91669.1; Type=Frameshift; Positions=79; Sequence=BAB14947.1; Type=Erroneousinitiation; Note=Translation N-terminally extended;
Secondary accessions : Q6MZJ4 Q7Z748 Q9H7E5 Q9NVS8Explore the universe of human proteins at neXtProt for SHQ1: NX_Q6PI26 Explore proteomics data for SHQ1 at MOPED Post-translational modifications:
View modification sites using PhosphoSitePlus View neXtProt modification sites for NX_Q6PI26 SHQ1 Protein expression data from MOPED1 2 3 : About this image REFSEQ proteins: NP_060600.2 ENSEMBL proteins: ENSP00000402447 ENSP00000315182 ENSP00000417452 ENSP00000418398 ENSP00000417739 Human Recombinant Protein Products for SHQ1: Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6 ): About this table
About GeneDecksing SHQ1 Antibody Products: Assay Products for SHQ1:
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Protein
Domains /for SHQ1 gene (According to HGNC , IUPHAR , InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
About This Section 3 InterPro protein domains :
Graphical View of Domain Structure for InterPro Entry Q6PI26 ProtoNet protein and cluster: Q6PI26
UniProtKB/Swiss-Prot: SHQ1_HUMAN, Q6PI26 Similarity : Belongs to the SHQ1 familySimilarity : Contains 1 CS domainAbout GeneDecksing
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Functionfor SHQ1 gene
(According to 1 UniProtKB ,
Genatlas ,
LifeMap Discovery™ ,
IUBMB , and/or
2 DME ,
Human phenotypes from GenomeRNAi ,
Animal models from MGI Mar 06 2013,
inGenious Targeting Laboratory ,
genOway ,
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 ,
Sirion Biotech ,
Clones from EMD Millipore ,
OriGene ,
SwitchGear Genomics ,
GenScript ,
Sino Biological ,
DNA2.0 ,
Vector BioLabs ,
and Sirion Biotech ,
Cell Lines from GenScript ,
LifeMap BioReagents ,
In Situ Hybridization Assays from Advanced Cell Diagnostics ,
Ontologies according to Gene Ontology Consortium 01 Oct 2013 via
Entrez Gene .)
About This Section Molecular Function: UniProtKB/Swiss-Prot Summary: SHQ1_HUMAN, Q6PI26 Function : Required for the quantitative accumulation of H/ACA ribonucleoproteins (RNPs), including telomerase,probably through the stabilization of DKC1, from the time of its synthesis until its association with NOP10,NHP2, and NAF1 at the nascent H/ACA RNA
Gene Ontology (GO): 1 molecular function term (GO ID links to tree view) : About this table
About GeneDecksing Phenotypes: 2 GenomeRNAi human phenotypes for SHQ1 :Animal Models: Cell Line GenScript Custom overexpressing Cell Line Services for SHQ1 Search LifeMap BioReagents cell lines for SHQ1 In Situ AssayAdvanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SHQ1
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Pathways & Interactionsfor SHQ1 gene
(Pathways according to
EMD Millipore ,
R&D Systems ,
Cell Signaling Technology ,
KEGG ,
PharmGKB ,
BioSystems ,
Sino Biological ,
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 1 UniProtKB ,
2 MINT ,
3 I2D , and/or
4 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Oct 2013 via
Entrez Gene) .
About This Section Interactions: Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SHQ1 STRING Interaction
Network Preview (showing 5 interactants - click image to see 9)5/23 Interacting proteins for SHQ1 (Q6PI26 3 ENSP00000315182 4 via UniProtKB, MINT, STRING , and/or I2D (see all 23 )About this table Gene Ontology (GO): 3 biological process terms (GO ID links to tree view) : About this table
GO ID Qualified GO term Evidence PubMed IDs GO:0022618 ribonucleoprotein complex assembly
IDA 19383767 GO:0043065 positive regulation of apoptotic process
IDA -- GO:2000233 negative regulation of rRNA processing
IDA --
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Drugs & Compoundsfor SHQ1 gene (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
EMD Millipore , Tocris Bioscience
HMDB ,
BitterDB , and/or
Novoseek ,
Ligands according to IUPHAR ,
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 SHQ1 SHQ1
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Transcriptsfor SHQ1 gene (Secondary structures according to
fRNAdb ,Unigene
(Build 236 Homo sapiens; Apr 25 2013) or GenBank , Entrez Gene ,
DOTS (version 10), and/or
AceView ,
transcript ids from Ensembl
with links to UCSC , KenesGroup ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,EMD Millipore ,
OriGene ,
QIAGEN ,
shRNA from
OriGene ,
microRNA from QIAGEN ,
OriGene ,
SwitchGear Genomics ,
GenScript ,
DNA2.0 ,
Vector BioLabs ,
Sirion Biotech ,
Primers from
OriGene ,
SABiosciences , and/or
QIAGEN
)About This Section REFSEQ mRNAs for SHQ1 gene: NM_018130.2 Unigene Cluster for SHQ1:
SHQ1, H/ACA ribonucleoprotein assembly factor Hs.606584 [show with all ESTs ] Unigene Representative Sequence: BX641074 8 Ensembl transcripts including schematic representations, and UCSC links where relevant : ENST00000468371 ENST00000444040 ENST00000325599 (uc003dpf.3 uc010hod.3 )ENST00000463369 ENST00000475558 ENST00000468347 ENST00000482785 ENST00000471526 Primer SHQ1 human mouse SABiosciences RT2 qPCR Primer Assay in human mouse rat QIAGEN QuantiTect SYBR Green Assays in human mouse rat QIAGEN QuantiFast Probe-based Assays in human mouse rat
Additional mRNA sequence: AK001401.1 AK092962.1 AK296789.1 BC017204.2 BC017274.2 BC025270.1 BC032671.1 BC039830.1 BC047879.2 BX641074.1
9 DOTS entries : DT.91718956 DT.445698
DT.100779511 DT.95117942 DT.100841575 DT.208923 DT.91753157 DT.91850035 DT.97841561 24/114 AceView cDNA sequences (see all 114 ):
BC047879 BG392630 AW070280 BP367794 CB989600 BC025270 CA395606 BG254785 BM770135 BM550717 BX370096 AI151469 AU117970 BC017274 BM786501 AI476821 CB216026 AI570146 BM770705 BC032671 BM771386 BC039830 BC017204 AW513147 GeneLoc Exon Structure 4 Alternative Splicing Database (ASD) splice patterns (SP) for SHQ1 About this scheme ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 SP1 : - - SP2 : - SP3 : - - SP4 :
ECgene alternative splicing isoforms for SHQ1
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Expression for SHQ1 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 ,SABiosciences ,
Primers from
OriGene ,
SABiosciences , and/or
QIAGEN ,
In Situ Hybridization Assays from Advanced Cell Diagnostics )
About This Section SHQ1 expression in normal human tissues
(normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this image BioGPS 2/3 CGAP TAG: TGTCACGAGTAbout this image
See SHQ1 Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for SHQ1 SOURCE GeneReport for Unigene cluster: Hs.606584 SABiosciences Custom PCR Arrays for SHQ1 Primer SHQ1 human mouse SABiosciences RT2 qPCR Primer Assay in human mouse rat QIAGEN QuantiTect SYBR Green Assays in human mouse rat QIAGEN QuantiFast Probe-based Assays in human mouse rat In Situ Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SHQ1
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Orthologsfor SHQ1 gene
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
,
5 MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase ,
and/or
6 Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam )
About This Section Orthologs for SHQ1 gene from 7/18 species (see all 18 ) About this table
Organism
Taxonomic
Gene
Description
Human
Orthology
Details
mouse Mammalia Shq11 5
SHQ1 homolog (S. cerevisiae)1, 5
79.73(n) 1 77.46(a) 1
6 (46.82 cM) 5 72171 1 NM_181590.4 1 NP_853621.2 1 100573081 5
chicken Aves SHQ11
SHQ1 homolog (S. cerevisiae)
68.61(n) 64.73(a)
416096 XM_414429.3 XP_414429.3
lizard Reptilia SHQ16
SHQ1, H/ACA ribonucleoprotein assembly factor
54(a)
1 ↔ 1
2(179314553-179433668)
zebrafish Actinopterygii shq11
SHQ1 homolog (S. cerevisiae)
58.42(n) 55.89(a)
567601 NM_001080600.1 NP_001074069.1
fruit fly Insecta CG100556
--
21(a)
1 ↔ 1
3R(3009823-3012375)
worm Secernentea CELE_Y48A5A.11
Protein Y48A5A.1
46.96(n) 38.92(a)
176997 NM_067749.2 NP_500150.2
baker's yeast Saccharomycetes SHQ1(YIL104C)4 1
Chaperone protein required for the assembly of box H/ACA snoRNPs and thus for pre-rRNA processing, forms a complex with Naf1p and interacts with H/ACA snoRNP components Nhp2p and Cbf5p; homology with known Hsp90p cochaperones less 4 1
44.97(n) 1 30.17(a) 1
9(171505-169982) 4 854702 1, 4 NP_012162.3 1 NP_012162.1 4
ENSEMBL Gene Tree for SHQ1 (if available)TreeFam Gene Tree for SHQ1 (if available)
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Paralogsfor SHQ1 gene (Paralogs according to
1 HomoloGene ,2 Ensembl , and 3 SIMAP , Pseudogenes according to 4 Pseudogene.org Build 68)About This Section Paralogs for SHQ1 gene About GeneDecksing 1 Pseudogenes.org Pseudogene for SHQ1 PGOHUM00000238489
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Genomic Variantsfor SHQ1 gene (SNPs/Variants according to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE ,
4 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 Chr 3 pos Sequence # AA Type More # Allele Pop Total More
HapMap Linkage Disequilibrium report for SHQ1 (72798428 - 72911065 bp)
Structural Variations Database of Genomic Variants (DGV) 4 variations for SHQ1 : About this table SABiosciences Cancer Mutation PCR Assays
SeqTarget long-range PCR primers for resequencing SHQ1
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Disorders
/ Diseasesfor SHQ1 gene
(in which this Gene is Involved, According to MalaCards ,
OMIM, UniProtKB ,
the University of Copenhagen DISEASES
database , Conferences by KenesGroup ,
Genatlas , GeneTests ,
GAD ,
HuGE Navigator ,
and/or TGDB .)
About This Section OMIM gene information: 613663
OMIM disorders : --2 : About MalaCards dyskeratosis congenita 1 disease from the University of Copenhagen DISEASES database for SHQ1 :Dyskeratosis congenita About GeneDecksing Export disorders for SHQ1 gene to outside databases
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Publicationsfor SHQ1 gene (in
PubMed .
Associations of this gene to articles via
1 Entrez Gene ,
2 UniProtKB/Swiss-Prot ,
3 HGNC ,
4 GAD ,
5 PharmGKB ,
6 HMDB ,
7 DrugBank ,
8 UniProtKB/TrEMBL ,
9 Novoseek , and/or
10 fRNAdb )
About This Section PubMed articles for SHQ1 gene, integrated from 9 sources (see all 13 ):(articles sorted by number of sources associating them with SHQ1) Utopia : connect your pdf to the dynamic
SHQ1 is required prior to NAF1 for assembly of H/ACA small nucleolar and telomerase RNPs. (PubMed id 19383767) 1 , 2 (2009) Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039) 1 , 2 (2004) Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932) 1 , 3(2002) Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983) 1 (2011) GRIM-1, a novel growth suppressor, inhibits rRNA matur ation by suppressing small nucleolar RNAs. (PubMed id 21931644) 1 (2011) Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048) 1 (2011) The H/ACA RNP assembly factor SHQ1 functions as an RN A mimic. (PubMed id 22085966) 1 (2011) A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473) 1 (2011) Ubiquitin-mediated proteolysis of HuR by heat shock. (PubMed id 19322201) 1 (2009) Defining the human deubiquitinating enzyme interactio n landscape. (PubMed id 19615732) 1 (2009)
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External Searches for SHQ1 gene
(in PubMed ,
OMIM , and NCBI Bookshelf ) About This Section
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Genome Databases showing SHQ1 gene
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
Kegg ,
and/or
H-InvDB )
About This Section
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Other Databases showing SHQ1 gene
(According to HUGE )
About This Section --
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Specialized Databases showing SHQ1 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 SHQ1 Pharmacogenomics, SNPs, Pathways
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About This Section Patent Information for SHQ1 gene: SHQ1 GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Productsfor SHQ1 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 , Cloud-Clone Corp. , Thermo Fisher Scientific , LSBio , Gene Editing from DNA2.0 and Sirion Biotech , Clones from EMD Millipore , OriGene , GenScript , Sino Biological , DNA2.0 , SwitchGear Genomics , Vector BioLabs , Sirion Biotech , 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 , Animal models from inGenious Targeting Laboratory ,
genOway )About This Section
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat SHQ1 QIAGEN SeqTarget long-range PCR primers for resequencing SHQ1 QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human mouse rat QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human mouse rat QIAGEN QuantiFast Probe-based Assays in human mouse rat QIAGEN QuantiTect SYBR Green Assays in human mouse rat
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SHQ1
ThermoFisher Antibodies for SHQ1
Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat SHQ1
LSBio Antibodies in human mouse rat
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Aliases for SHQ1
Databases for SHQ1
Disorders / Diseases for SHQ1
Domains / Families for SHQ1
Drugs / Compounds for SHQ1
Expression for SHQ1
Function for SHQ1
Genomic Views for SHQ1
Intellectual Property for SHQ1
Orthologs for SHQ1
Paralogs for SHQ1
Pathways / Interactions for SHQ1
Products for SHQ1
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Search Box for SHQ1
Summaries for SHQ1
Transcripts for SHQ1
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