KLHL8 Gene
protein-coding GIFtS: 48
GCID: GC04M088081
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kelch-like family member 8(Previous name: kelch-like 8 (Drosophila) )
| |
Aliases
for KLHL8 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Kelch-Like Family Member 81 2 | | KIAA13781 3 5 | | Kelch-Like 8 (Drosophila)1 | | Kelch-Like 82 | | Kelch-Like Protein 82 |
Export aliases for KLHL8 gene to outside databasesPrevious GC identifers: GC04M088239 GC04M088384 GC04M088540 GC04M088438 GC04M088301 GC04M083826 |
Summaries
for KLHL8 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Gene Wiki entry for KLHL8
|
Genomic Views
for KLHL8 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_000004.11 NC_018915.1 NT_016354.19
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the KLHL8 gene promoter:
RORalpha1 RFX1 POU2F1 POU2F1a FOXO1a Meis-1a E4BP4 Arnt Meis-1 Meis-1b
Other transcription factors
Search SABiosciences Chromatin IP Primers for KLHL8
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KLHL8 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 4q22.1 Ensembl cytogenetic band: 4q22.1 HGNC cytogenetic band: 4q21.3KLHL8 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 4 GeneLoc Exon Structure GeneLoc location for GC04M088081: view genomic region
(about GC identifiers)
Start:
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88,081,255 bp from pter |
End:
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88,141,760 bp from pter |
Size:
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60,506 bases |
Orientation:
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minus strand |
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Proteins
for KLHL8 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: KLHL8_HUMAN, Q9P2G9 (See
protein sequence)Recommended Name: Kelch-like protein 8 Size: 620 amino acids; 68802 Da
Sequence caution: Sequence=BAA92616.2; Type=Erroneous initiation;
Secondary accessions: Q53XA3Explore the universe of human proteins at neXtProt for KLHL8: NX_Q9P2G9
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q9P2G9
KLHL8 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_065854.3
ENSEMBL proteins: ENSP00000273963 ENSP00000426451 ENSP00000408854 ENSP00000426361 ENSP00000424131 ENSP00000439514
Human Recombinant Protein Products for KLHL8:
KLHL8 Antibody Products:
Assay Products for KLHL8: |
Protein
Domains /
Families
for KLHL8 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
KLHL8 for domains About GeneDecksing
5/7 InterPro domains/families (see all 7):Graphical View of Domain Structure for InterPro Entry Q9P2G9ProtoNet protein and cluster: Q9P2G9 2 Blocks protein families: IPB000210 BTB/POZ domain IPB011705 BTB/Kelch-associated
UniProtKB/Swiss-Prot: KLHL8_HUMAN, Q9P2G9Similarity: Contains 1 BTB (POZ) domainSimilarity: Contains 6 Kelch repeats |
Function
for KLHL8 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
inGenious Targeting Laboratory,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase,
shRNA from
OriGene,
Sirion Biotech,
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,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
Sirion Biotech,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Phenotypes:
1 GenomeRNAi human phenotype for KLHL8:
1 MGI mutant phenotype (inferred from 1 allele ) (MGI details for Klhl8):
KLHL8 for phenotypes About GeneDecksing
Animal Models:
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 KLHL8 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for KLHL8
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: KLHL8 (NM_020803) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for KLHL8 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KLHL8 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KLHL8 |
|
Pathways & Interactions
for KLHL8 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 KLHL8
STRING Interaction
Network Preview (showing 5 interactants - click image to see 6)
5/7 Interacting proteins for KLHL8 (Q9P2G93 ENSP000002739634) via UniProtKB, MINT, STRING, and/or I2D (see all 7)About this table
|
Drugs & Compounds
for KLHL8 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 KLHL8
Search CenterWatch for drugs/clinical trials and news about KLHL8
|
Transcripts
for KLHL8 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,
Sirion Biotech,
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 KLHL8 gene: NM_020803.3 Unigene Cluster for KLHL8: Kelch-like 8 (Drosophila) Hs.106601 [show with all ESTs]Unigene Representative Sequence: BX6407448 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000273963(uc011cdb.1 uc003hql.1) ENST00000498875(uc003hqm.1)
ENST00000425278(uc003hqn.1 uc010ikj.1) ENST00000506985 ENST00000512111
ENST00000505388 ENST00000504029 ENST00000545252
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for KLHL8 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for KLHL8
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: KLHL8 (NM_020803) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for KLHL8 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KLHL8 |
Additional cDNA sequence: AB037799.2 AK128827.1 BC041384.2 BC041901.1 BX538173.1 BX640727.1 BX640744.1 BX647454.1 BX648367.1 CR749265.1 6 DOTS entries: DT.443746 DT.95260811 DT.97762416 DT.121219617 DT.97829643 DT.101977159 3 AceView cDNA sequences: BC041370 BI552498 BG622508
GeneLoc Exon Structure
2 Alternative Splicing Database (ASD) splice patterns (SP) for KLHL8 About this scheme
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 |
|---|
|
| SP1: | | | | | | | | | | | | | | | | | | | |
| SP2: | | | - | | - | | | | | | | | | | | | | |
ECgene alternative splicing isoforms for KLHL8
|
Expression
for KLHL8 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
| KLHL8 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --
About this image
See KLHL8 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for KLHL8
SOURCE GeneReport for Unigene cluster: Hs.106601
SABiosciences Custom PCR Arrays for KLHL8
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for KLHL8
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat KLHL8 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat KLHL8 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat KLHL8 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KLHL8 |
Orthologs
for KLHL8 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 KLHL8 gene from 5/21 species (see all 21) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
chicken
(Gallus gallus) |
Aves |
KLHL81 |
kelch-like 8 (Drosophila) |
80.41(n)
90.91(a) |
|
422589 XM_420548.3 XP_420548.2 |
lizard
(Anolis carolinensis) |
Reptilia |
KLHL86 |
-- |
88(a) |
1 ↔ 1 |
5(45247346-45264436) |
tropical clawed frog
(Xenopus tropicalis) |
Amphibia |
Str.21782 |
Transcribed sequence with weak similarity to protein more |
81.95(n) |
|
AL967352.2 |
zebrafish
(Danio rerio) |
Actinopterygii |
klhl81 |
kelch-like 8 (Drosophila) |
69.39(n)
82.3(a) |
|
572347 NM_001110480.1 NP_001103950.1 |
worm
(Caenorhabditis elegans) |
Secernentea |
W02G9.23
kel-81 |
Protein KEL-81 |
43(a)3
50.25(n)1
43.77(a)1 |
|
V(2682213-2688196)3
35650111 NM_071328.41 NP_503729.41 |
ENSEMBL Gene Tree for KLHL8 (if available)
TreeFam Gene Tree for KLHL8 (if available) |
Paralogs
for KLHL8 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for KLHL8 gene
- KLHL172 KLHL182 KLHL202 KLHL52 KLHL122 KEAP12 KLHL282 KLHL42
- IPP2 KLHL32 KLHL102 KLHL12 KLHL22
18/21 SIMAP similar genes for KLHL8 using alignment to 3 protein entries: KLHL8_HUMAN (see all proteins)
(see all similar genes):DKFZp686P15123 DKFZp686H07112 DKFZp781C1855 KLHL20 KLHL3 DKFZp761P1717
KLHL17 KLHL18 KLHL1 KLHL5 KLHL2 KLHL4
KLHL12 KLHL28 IVNS1ABP KEAP1 KLHL10 KLHL33
KLHL8 for paralogs About GeneDecksing
|
Genomic Variants
for KLHL8 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 4 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for KLHL8 (88081255 - 88141760 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for KLHL8: -- | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing KLHL8 |
|
Disorders
/ Diseases
for KLHL8 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
|
KLHL8 for disorders About GeneDecksing
OMIM gene information: 611967
OMIM disorders: --
1  disease for KLHL8: About MalaCardsataxia
Human Genome Epidemiology (HuGE) Navigator: KLHL8 (1 document)
Export disorders for KLHL8 gene to outside databases
|
Publications
for KLHL8 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 KLHL8 gene, integrated from 9 sources (see all 18):
(articles sorted by number of sources associating them with KLHL8) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- 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)
- Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones. (PubMed id 12168954)1, 2 Nakajima D.... Nagase T. (2002)
- Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10718198)1, 2 Nagase T.... Ohara O. (2000)
- 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)
- A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
- Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
- Biological, clinical and population relevance of 95 l oci for blood lipids. (PubMed id 20686565)1 Teslovich T.M....Kathiresan S. (2010)
- Investigation of genetic susceptibility factors for h uman longevity - A targeted nonsynonymous SNP study. (PubMed id 20800603)1 Flachsbart F....Nebel A. (2010)
- Dynamics of cullin-RING ubiquitin ligase network revea led by systematic quantitative proteomics. (PubMed id 21145461)1 Bennett E.J....Harper J.W. (2010)
- Defining the human deubiquitinating enzyme interactio n landscape. (PubMed id 19615732)1 Sowa M.E....Harper J.W. (2009)
|
External Searches for KLHL8 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing KLHL8 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing KLHL8 gene
(According to HUGE)
About This Section
| |
Specialized Databases showing KLHL8 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 KLHL8 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for KLHL8 gene:
Search GeneIP for patents involving KLHL8
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for KLHL8 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 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, 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)
About This Section
|
 | |
 | |
 |
| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for KLHL8 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for KLHL8 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for KLHL8 | | | OriGene Protein Over-expression Lysate for KLHL8 | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for KLHL8 | | OriGene 3'-UTR Clone for KLHL8 | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for KLHL8 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for KLHL8 | | | 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,
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat KLHL8 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing KLHL8 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KLHL8 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat KLHL8 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat KLHL8 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat KLHL8 |
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| | | | Search Tocris compounds for KLHL8 |
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 | | | KLHL8 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KLHL8 |
|  |  |  |  | | | | Search ThermoFisher Antibodies for KLHL8 |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KLHL8 |
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