KLHL1 Gene
protein-coding GIFtS : 55 GCID: GC13 M070274
kelch-like family member 1 kelch (Drosophila)-like 1, kelch-like 1 (Drosophila) )
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Aliasesfor KLHL1 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 ,
and/or 10 fRNAdb )About This Section Aliases Kelch-Like Family Member 1 1 2 Kelch (Drosophila)-Like 11 MRP21 2 Kelch-Like 1 (Drosophila)1 KIAA14901 3 Kelch-Like Protein 12 FLJ300471 Mayven-Related Protein 22
Export aliases for KLHL1 gene to outside databases Previous GC identifers: GC13M068242 GC13M064269 GC13M069211 GC13M068072 GC13M069172 GC13M050976
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Summariesfor KLHL1 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 KLHL1 : The KLHL1 protein belongs to a family of actin-organizing proteins related to Drosophila Kelch (Nemes et al., 2000 (PubMed 10888605)).(supplied by OMIM, Feb 2010) UniProtKB/Swiss-Prot: KLHL1_HUMAN, Q9NR64 Function : May play a role in organizing the actin cytoskeleton of the brain cellsGene Wiki entry for KLHL1
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Genomic Viewsfor KLHL1 gene
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 37) ,miRBase ,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_000013.10 NC_018924.1 NT_024524.14 Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the KLHL1 gene promoter:TBP NF-AT2 Pax-5 TFIID Nkx2-5 NF-AT Other transcription factors Search SABiosciences Chromatin IP Primers for KLHL1 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: 13q21 Ensembl cytogenetic band: 13q21.33 HGNC cytogenetic band: 13q21 KLHL1 Gene in genomic location: bands according to Ensembl, locations according to
Entrez Gene Ensembl GeneLoc information about chromosome 13 GeneLoc Exon Structure
GeneLoc location for GC13M070274: view genomic region
(about GC identifiers )
Start: 70,274,725 bp from pter End:
70,682,625 bp from pter
Size: 407,901 bases Orientation:
minus strand
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Proteinsfor KLHL1 gene
(According to
1 UniProtKB ,
HORDE ,
neXtProt ,
Ensembl ,
and/or Reactome ,
Modification sites according to 2 PhosphoSitePlus ,
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 ,
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: KLHL1_HUMAN, Q9NR64 See
protein sequence )Recommended Name: Size : 748 amino acids; 82680 DaSubcellular location : Cytoplasm, cytoskeletonSequence caution : Sequence=BAA96014.1; Type=Erroneous initiation;Secondary accessions : A8K5X0 Q5VZ64 Q9H4X4 Q9NR65 Q9P238Explore the universe of human proteins at neXtProt for KLHL1: NX_Q9NR64 Post-translational modifications:
View modification sites using PhosphoSitePlus 2 View neXtProt modification sites for NX_Q9NR64 KLHL1 Protein expression data from MOPED and PaxDb : About this image REFSEQ proteins: NP_065917.1 ENSEMBL proteins: ENSP00000367075 ENSP00000439602 Human Recombinant Protein Products: Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view) : About this table
About GeneDecksing KLHL1 Antibody Products: Assay Products for KLHL1:
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Protein
Domains /for KLHL1 gene (According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
About This Section About GeneDecksing 5/6 InterPro domains/families (see all 6 ):
Graphical View of Domain Structure for InterPro Entry Q9NR64 ProtoNet protein and cluster: Q9NR64
2 Blocks protein families : IPB000210 IPB011705 UniProtKB/Swiss-Prot: KLHL1_HUMAN, Q9NR64 Similarity : Contains 1 BTB (POZ) domainSimilarity : Contains 6 Kelch repeats
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Functionfor KLHL1 gene
(According to 1 UniProtKB ,
Genatlas ,
LifeMap Discovery™ ,
IUBMB , and/or
2 DME ,
Human phenotypes from GenomeRNAi ,
Animal models from MGI Mar 06 2013,
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: KLHL1_HUMAN, Q9NR64 Function : May play a role in organizing the actin cytoskeleton of the brain cells
Clone 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 see all 3 )human mouse rat OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector: KLHL1 (NM_025010 ) Browse Sino Biological Human cDNA Clones DNA2.0 Custom Codon Optimized Gene
Synthesis Service for KLHL1 Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat KLHL1
In Situ AssayAdvanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KLHL1
Gene Ontology (GO): 1 molecular function term (GO ID links to tree view) : About this table
About GeneDecksing 7 GenomeRNAi human phenotypes for KLHL1 :Animal Models: Klhl1/Atxn8os Klhl1/tm1.1Mdk for KLHL12 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Klhl1) :About GeneDecksing
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Pathways & Interactionsfor KLHL1 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 1 UniProtKB ,
2 MINT ,
3 I2D , and/or
4 STRING ,
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 KLHL1 STRING Interaction
Network Preview (showing 2 interactants - click image to see more details)2 Interacting proteins for KLHL1 (Q9NR64 3 ENSP00000367075 4 via UniProtKB, MINT, STRING , and/or I2D About this table Gene Ontology (GO): 5 biological process terms (GO ID links to tree view) : About this table
About GeneDecksing
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Drugs & Compoundsfor KLHL1 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 KLHL1 KLHL1
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Transcriptsfor KLHL1 gene (Secondary structures according to
fRNAdb ,Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank , Entrez Gene ,
DOTS (version 10), and/or
AceView ,
transcript ids from Ensembl
with links to UCSC , 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 ,
Primers from
OriGene ,
SABiosciences , and/or
QIAGEN
)About This Section REFSEQ mRNAs for KLHL1 gene: NM_020866.2 Unigene Cluster for KLHL1:
Kelch-like 1 (Drosophila) Hs.508201 [show with all ESTs ] Unigene Representative Sequence: NM_020866 2 Ensembl transcripts including schematic representations, and UCSC links where relevant : ENST00000377844 (uc001vip.3 uc010thm.2 ) ENST00000545028 Clone OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human mouse rat see all 3 )human mouse rat OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector: KLHL1 (NM_025010 ) DNA2.0 Custom Codon Optimized Gene
Synthesis Service for KLHL1 Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat KLHL1
Additional cDNA sequence: AB040923.1 AF252283.1 AK054609.1 AK291435.1 AK295939.1 BC022460.1
3 DOTS entries : DT.205884 DT.95293922
DT.120794577 1 AceView cDNA sequence :
BG703629 GeneLoc Exon Structure 3 Alternative Splicing Database (ASD) splice patterns (SP) for KLHL1 About this scheme ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 SP1 : - SP2 : SP3 : -
ECgene alternative splicing isoforms for KLHL1
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Expression for KLHL1 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 KLHL1 expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this image BioGPS CGAP TAG: --
About this image KLHL1 expression in embryonic tissues and stem cells About this table See KLHL1 Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for KLHL1 SOURCE GeneReport for Unigene cluster: Hs.508201 UniProtKB/Swiss-Prot: KLHL1_HUMAN, Q9NR64 Tissue specificity : Highly expressed in brainSABiosciences Custom PCR Arrays for KLHL1 Primer OriGene genome-wide validated SYBR primer pairs in human mouse rat Browse OriGene validated miRNA SYBR primer pairs 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 KLHL1
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Orthologsfor KLHL1 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 KLHL1 gene from 5/20 species (see all 20 ) About this table
Organism
Taxonomic
Gene
Description
Human
Orthology
Details
chicken Aves KLHL11
kelch-like 1 (Drosophila)
82.41(n) 90.5(a)
418799 XM_416994.2 XP_416994.2
lizard Reptilia KLHL16
--
89(a)
1 ↔ 1
3(81490924-81690330)
zebrafish Actinopterygii ipp6
intracisternal A particle-promoted polypeptide
31(a)
possible ortholog
2(3580312-3589765)
fruit fly Insecta CG177543
--
58(a)
8D10 --
worm Secernentea T27E9.4b3
ring canal protein like
34(a)
III(13537863-13542591) --
ENSEMBL Gene Tree for KLHL1 (if available)TreeFam Gene Tree for KLHL1 (if available)
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Paralogsfor KLHL1 gene (Paralogs according to
1 HomoloGene ,2 Ensembl , and 3 SIMAP , Pseudogenes according to 4 Pseudogene.org Build 68)About This Section Paralogs for KLHL1 gene KLHL17 2 KLHL18 2 KLHL20 2 KLHL5 2 KLHL12 2 KEAP1 2 KLHL28 2 KLHL4 2 IPP 2 KLHL3 2 KLHL8 2 KLHL10 2 KLHL2 2 18/38 SIMAP similar genes for KLHL1 using alignment to 4 protein entries: KLHL1_HUMAN (see all proteins )
(see all similar genes ):DKFZp761P1717 KLHL5 KLHL4 KLHL20 KLHL17 KLHL3 KLHL32 KLHL28 KLHL12 KLHL2 KLHL8 KLHL18 DKFZp686P15123 DKFZp686H07112 KBTBD8 DKFZp781C1855 KLHL22 KLHL10 About GeneDecksing
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Genomic Variantsfor KLHL1 gene (SNPs/Variants according to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE ,
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 13 pos Sequence # AA Type More # Allele Pop Total More
HapMap Linkage Disequilibrium report for KLHL1 (70274725 - 70524725 bp, first 250kb of KLHL1)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV): 13 variations for KLHL1 7 CNVs 43886 49247 5427 66472 66471 22625 101768 6 Indels 76398 86902 86903 76399 76401 76400 Human Gene Mutation Database (HGMD) : KLHL1 SABiosciences Cancer Mutation PCR Assays
QIAGEN SeqTarget long-range PCR primers in human mouse rat
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Disorders
/ Diseasesfor KLHL1 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 About GeneDecksing OMIM gene information: 605332
OMIM disorders : --2 : About MalaCards spinocerebellar ataxia ataxia 1 disease from the University of Copenhagen DISEASES database for KLHL1 :Spinocerebellar ataxia Human Genome Epidemiology (HuGE) Navigator: KLHL1 (2 documents) Export disorders for KLHL1 gene to outside databases
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Publicationsfor KLHL1 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 KLHL1 gene, integrated from 9 sources (see all 14 ):(articles sorted by number of sources associating them with KLHL1) Utopia : connect your pdf to the dynamic
The SCA8 transcript is an antisense RNA to a brain-specific transcript encoding a novel actin-binding protein (KLHL1). (PubMed id 10888605) 1 , 2 , 3, 9(2000) The DNA sequence and analysis of human chromosome 13. (PubMed id 15057823) 1 , 2 (2004) Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039) 1 , 2 (2004) Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10819331) 1 , 2 (2000) The Kelch-like protein 1 modulates P/Q-type calcium current density. (PubMed id 17289272) 1 , 9(2007) UGT1A1 is a major locus influencing bilirubin levels i n African Americans. (PubMed id 22085899) 1 (2012) Influence of MRP2 on MPA pharmacokinetics in renal tra nsplant recipients-results of the Pharmacogenomic Substudy within the Symphony S tudy. (PubMed id 21427078) 1 (2011) Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614) 1 (2010) T-type current modulation by the actin-binding protei n Kelch-like 1. (PubMed id 20147652) 1 (2010) A genome-wide study of common SNPs and CNVs in cognit ive performance in the CANTAB. (PubMed id 19734545) 1 (2009)
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External Searches for KLHL1 gene
(in PubMed ,
OMIM , and NCBI Bookshelf ) About This Section
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Genome Databases showing KLHL1 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 KLHL1 gene
(According to HUGE )
About This Section
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Specialized Databases showing KLHL1 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 KLHL1 Pharmacogenomics, SNPs, Pathways
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About This Section Patent Information for KLHL1 gene: KLHL1 GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Productsfor KLHL1 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 KLHL1 OriGene shRNA RFP for KLHL1 OriGene 29mer shRNA kits in GFP-retroviral vector in human mouse rat OriGene genome-wide validated SYBR primer pairs in human mouse rat OriGene Protein Over-expression Lysate for KLHL1 Browse OriGene Fluorogenic Cell Assay Kits OriGene siRNA for KLHL1 OriGene 3'-UTR Clone for KLHL1 OriGene untagged cDNA clones in CMV expression vector in human mouse rat OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human mouse rat 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 KLHL1 OriGene Custom Protein Services for KLHL1 OriGene Custom Immunoassay Development
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat KLHL1 QIAGEN SeqTarget long-range PCR primers in human mouse rat 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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KLHL1 Proteins, Antibodies, CLIAs, and ELISAs
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KLHL1
ThermoFisher Antibodies for KLHL1
Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat KLHL1
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Expression by the Database of Embryonic development, Stem cell research, and
Regenerative medicine 
Anatomical Compartment 
Negative
Selective marker
Curated
