Aliases for KLHL8 Gene
Aliases for KLHL8 Gene
External Ids for KLHL8 Gene
- HGNC: 18644
- Entrez Gene: 57563
- Ensembl: ENSG00000145332
- OMIM: 611967
- UniProtKB: Q9P2G9
Previous GeneCards Identifiers for KLHL8 Gene
- GC04M088239
- GC04M088384
- GC04M088540
- GC04M088438
- GC04M088301
- GC04M088081
- GC04M083826
Summaries for KLHL8 Gene
GeneCards Summary for KLHL8 Gene
KLHL8 (Kelch Like Family Member 8) is a Protein Coding gene. An important paralog of this gene is KLHL20.
UniProtKB/Swiss-Prot for KLHL8 Gene
-
Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex required for The BCR(KLHL8) ubiquitin ligase complex mediates ubiquitination and degradation of RAPSN.
No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KLHL8 Gene
Genomics for KLHL8 Gene
GeneHancer (GH) Regulatory Elements for KLHL8 Gene
Promoters and enhancers for KLHL8 Gene
| GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
|---|---|---|---|---|---|---|---|---|---|---|
| GH04J087219 | Promoter/Enhancer | 2 | EPDnew Ensembl ENCODE | 658.8 | +20.1 | 20113 | 2.4 | HDGF PKNOX1 ARNT ARID4B SIN3A ZNF2 ZBTB7B IRF4 YY1 POLR2B | KLHL8 HSD17B13 GC04P087226 GAPDHP60 | |
| GH04J087240 | Promoter | 0.7 | EPDnew | 650.7 | -0.2 | -237 | 0.1 | USF2 NR2F2 | KLHL8 ENSG00000250572 | |
| GH04J087209 | Enhancer | 1.1 | FANTOM5 Ensembl ENCODE | 7.5 | +30.6 | 30613 | 1.4 | MEIS2 CEBPB CEBPG ELF1 YY1 GABPA SP1 POLR2A GABPB1 MLLT1 | KLHL8 AFF1 HSD17B13 HSD17B11 GAPDHP60 GC04P087226 | |
| GH04J087165 | Enhancer | 0.6 | ENCODE | 7.8 | +74.0 | 74010 | 1.4 | RXRA TEAD1 HLF CEBPG REST GABPA TEAD3 NFIL3 SP1 JUND | LOC100419572 HSD17B13 KLHL8 GC04P087116 | |
| GH04J087143 | Enhancer | 0.4 | ENCODE | 11.1 | +95.9 | 95878 | 1.6 | IKZF1 RBM22 RUNX3 | KLHL8 AFF1 HSD17B13 LOC100419572 GC04P087116 |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)
GeneHancers around KLHL8 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the KLHL8 gene promoter:
-
- Meis-1b
- Meis-1a
- Meis-1
- RORalpha1
- Arnt
- RFX1
- POU2F1a
- POU2F1
- E4BP4
- FOXO1a
Regulatory Element Products
Genomic Locations for KLHL8 Gene
Genomic Locations for KLHL8 Gene
- chr4:87,160,103-87,240,314
- (GRCh38/hg38)
- Size:
- 80,212 bases
- Orientation:
- Minus strand
- chr4:88,081,255-88,161,466
- (GRCh37/hg19)
- Size:
- 80,212 bases
- Orientation:
- Minus strand
Genomic View for KLHL8 Gene
Genes around KLHL8 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 4q22.1 by Entrez Gene
- 4q22.1 by HGNC
- 4q22.1 by Ensembl
KLHL8 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for KLHL8 Gene
Proteins for KLHL8 Gene
-
Protein details for KLHL8 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9P2G9-KLHL8_HUMAN
- Recommended name:
- Kelch-like protein 8
- Protein Accession:
- Q9P2G9
- Q53XA3
- Q6N018
Protein attributes for KLHL8 Gene
- Size:
- 620 amino acids
- Molecular mass:
- 68802 Da
- Quaternary structure:
-
- Component of the BCR(KLHL8) E3 ubiquitin ligase complex, at least composed of CUL3, KLHL8 and RBX1. Interacts with RAPSN.
- SequenceCaution:
-
- Sequence=BAA92616.2; Type=Erroneous initiation; Evidence={ECO:0000305};
Protein Expression for KLHL8 Gene
Post-translational modifications for KLHL8 Gene
Other Protein References for KLHL8 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for KLHL8
- Invitrogen Antibodies for KLHL8 (AFLGC-KLHL8)
- Search GeneTex for Antibodies for KLHL8
-
Boster Bio Antibodies for KLHL8
Protein Products
-
OriGene Purified Proteins for KLHL8
- Search Origene for MassSpec and Protein Over-expression Lysates for KLHL8
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- Search GeneTex for Proteins for KLHL8
-
Abcam proteins for KLHL8
Assay Products
No data available for DME Specific Peptides for KLHL8 Gene
Domains & Families for KLHL8 Gene
Gene Families for KLHL8 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Cancer-related genes
- Plasma proteins
- Predicted intracellular proteins
Protein Domains for KLHL8 Gene
- Blocks:
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for KLHL8 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
No data available for UniProtKB/Swiss-Prot for KLHL8 Gene
Function for KLHL8 Gene
Molecular function for KLHL8 Gene
- UniProtKB/Swiss-Prot Function:
- Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex required for The BCR(KLHL8) ubiquitin ligase complex mediates ubiquitination and degradation of RAPSN.
Phenotypes From GWAS Catalog for KLHL8 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004842 | contributes_to ubiquitin-protein transferase activity | IBA | -- |
| GO:0005515 | protein binding | IEA | -- |
Phenotypes for KLHL8 Gene
- MGI mutant phenotypes for KLHL8:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for KLHL8:
Animal Models for KLHL8 Gene
- MGI Knock Outs for KLHL8:
-
- Klhl8 Klhl8<tm1b(EUCOMM)Wtsi>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for KLHL8
-
CRISPR Products
-
OriGene CRISPR knockouts for KLHL8
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for KLHL8
- genomics-online: gRNA clones - Search results for 75 available KLHL8 gene related products
- Overview of 75 available KLHL8 gene related products
- Applied Biological Materials CRISPR for KLHL8
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for KLHL8
- GenScript: Design CRISPR guide RNA sequences for KLHL8
miRNA for KLHL8 Gene
- miRTarBase miRNAs that target KLHL8
-
- hsa-mir-215-5p (MIRT024647)
- hsa-mir-192-5p (MIRT026842)
- hsa-mir-615-3p (MIRT040093)
- hsa-mir-221-3p (MIRT046891)
- hsa-mir-498 (MIRT667698)
- hsa-mir-3976 (MIRT667699)
- hsa-mir-6856-5p (MIRT667700)
- hsa-mir-6758-5p (MIRT667701)
- hsa-mir-3121-3p (MIRT667702)
- hsa-mir-187-5p (MIRT738286)
- hsa-mir-222-3p (MIRT739084)
- hsa-mir-302a-3p (MIRT739631)
- hsa-mir-302b-3p (MIRT739641)
- hsa-mir-302c-3p (MIRT739650)
- hsa-mir-302d-3p (MIRT739661)
- hsa-mir-302e (MIRT739669)
- hsa-mir-325 (MIRT741237)
- hsa-mir-372-3p (MIRT742605)
- hsa-mir-373-3p (MIRT742618)
- hsa-mir-519a-3p (MIRT750111)
- hsa-mir-519b-3p (MIRT750129)
- hsa-mir-519c-3p (MIRT750147)
- hsa-mir-520a-3p (MIRT750181)
- hsa-mir-520b (MIRT750206)
- hsa-mir-520c-3p (MIRT750213)
- hsa-mir-520d-3p (MIRT750224)
- hsa-mir-520e (MIRT750237)
- hsa-mir-548v (MIRT750809)
- hsa-mir-628-3p (MIRT752631)
- hsa-mir-6823-5p (MIRT756924)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for KLHL8
- Browse OriGene Inhibitory RNA Products For KLHL8
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KLHL8
- genomics-online: shRNA clones - Search results for 75 available KLHL8 gene related products
- Overview of 75 available KLHL8 gene related products
Clone Products
- Sino Biological Human cDNA Clone for KLHL8
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for KLHL8
- Applied Biological Materials Clones for KLHL8
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for KLHL8
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for KLHL8 Gene
Localization for KLHL8 Gene
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 3 |
- Nucleoplasm (4)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005654 | nucleoplasm | IDA | -- |
| GO:0031463 | Cul3-RING ubiquitin ligase complex | IDA | 19158078 |
No data available for Subcellular locations from UniProtKB/Swiss-Prot for KLHL8 Gene
Pathways & Interactions for KLHL8 Gene
No Data Available
UniProtKB/Swiss-Prot Q9P2G9-KLHL8_HUMAN
- Pathway: Protein modification; protein ubiquitination.
Interacting Proteins for KLHL8 Gene
GPS-Prot Interaction Network for KLHL8
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006511 | ubiquitin-dependent protein catabolic process | IDA | 19158078 |
| GO:0016567 | protein ubiquitination | IDA,IEA | -- |
No data available for Pathways by source and SIGNOR curated interactions for KLHL8 Gene
Transcripts for KLHL8 Gene
mRNA/cDNA for KLHL8 Gene
- (4) REFSEQ mRNAs :
- (10) Additional mRNA sequences :
- (84) Selected AceView cDNA sequences:
- (8) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000273963 5621 bps (uc003hql.2)
- ENST00000498875 5175 bps (uc003hqm.2)
- ENST00000425278 4049 bps (uc003hqn.2)
- ENST00000506985 2399 bps (uc062yae.1)
- ENST00000512111 3245 bps (uc062yaf.1)
Unigene Clusters for KLHL8 Gene
CRISPR Products
-
OriGene CRISPR knockouts for KLHL8
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for KLHL8
- genomics-online: gRNA clones - Search results for 75 available KLHL8 gene related products
- Overview of 75 available KLHL8 gene related products
- Applied Biological Materials CRISPR for KLHL8
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for KLHL8
- GenScript: Design CRISPR guide RNA sequences for KLHL8
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for KLHL8
- Browse OriGene Inhibitory RNA Products For KLHL8
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KLHL8
- genomics-online: shRNA clones - Search results for 75 available KLHL8 gene related products
- Overview of 75 available KLHL8 gene related products
Clone Products
- Sino Biological Human cDNA Clone for KLHL8
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for KLHL8
- Applied Biological Materials Clones for KLHL8
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | |||||||||||||||||
| SP2: | - | - |
Expression for KLHL8 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
mRNA differential expression in normal tissues according to GTEx for KLHL8 Gene
This gene is overexpressed in Muscle - Skeletal (x4.0).
This gene is overexpressed in Fetal heart (52.6) and Heart (15.8).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for KLHL8 Gene
NURSA nuclear receptor signaling pathways regulating expression of KLHL8 Gene:
KLHL8SOURCE GeneReport for Unigene cluster for KLHL8 Gene:
Hs.106601Evidence on tissue expression from TISSUES for KLHL8 Gene
- Nervous system(4.3)
Primer Products
-
OriGene qPCR primer pairs for KLHL8
-
OriGene qPCR primer pairs and template standards for KLHL8
- genomics-online: primer clones - Search results for 75 available KLHL8 gene related products
- Overview of 75 available KLHL8 gene related products
Gene Expression Assay Products
No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for KLHL8 Gene
Orthologs for KLHL8 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | KLHL8 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | KLHL8 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | KLHL8 34 33 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | KLHL8 34 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | KLHL8 34 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Klhl8 16 34 33 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Klhl8 33 |
|
||
| chicken (Gallus gallus) |
Aves | KLHL8 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | KLHL8 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | klhl8 33 |
|
||
| Str.2178 33 |
|
||||
| zebrafish (Danio rerio) |
Actinopterygii | klhl8 34 33 |
|
OneToOne | |
| rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.3234 33 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | kel-8 34 33 |
|
OneToOne | |
| W02G9.2 35 |
|
|
- Species where no ortholog for KLHL8 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- fruit fly (Drosophila melanogaster)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea squirt (Ciona intestinalis)
- sea squirt (Ciona savignyi)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
Evolution for KLHL8 Gene
- ENSEMBL:
- Gene Tree for KLHL8 (if available)
- TreeFam:
- Gene Tree for KLHL8 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for KLHL8: view image
Paralogs for KLHL8 Gene
Paralogs for KLHL8 Gene
(21) SIMAP similar genes for KLHL8 Gene using alignment to 3 proteins:
- KLHL8_HUMAN
- D6RGH5_HUMAN
- Q49A95_HUMAN
Variants for KLHL8 Gene
| SNP ID | Clin | Chr 04 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1000006227 | -- | 87,169,310(-) | T/A | intron_variant | |
| rs10000784 | -- | 87,166,331(-) | A/G | intron_variant | |
| rs1000080387 | -- | 87,184,698(-) | T/A | intron_variant | |
| rs1000101035 | -- | 87,218,305(-) | T/G | intron_variant | |
| rs1000147206 | -- | 87,213,257(-) | C/T | intron_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv5335n100 | CNV | gain | 25217958 |
| esv2727936 | CNV | deletion | 23290073 |
| esv2727937 | CNV | deletion | 23290073 |
| esv3601265 | CNV | loss | 21293372 |
| esv3601267 | CNV | loss | 21293372 |
| nsv1114549 | CNV | deletion | 24896259 |
| nsv822636 | CNV | gain | 20364138 |
| nsv966294 | CNV | duplication | 23825009 |
Residual Variation Intolerance Score:
21.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
0.89;
18.58% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for KLHL8 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- KLHL8
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KLHL8 Gene
Disorders for KLHL8 Gene
Additional Disease Information for KLHL8
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No disorders were found for KLHL8 Gene.
No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for KLHL8 Gene
Publications for KLHL8 Gene
- Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. (PMID: 20800603) Flachsbart F … Nebel A (Mutation research 2010) 3 44 58
- Control of rapsyn stability by the CUL-3-containing E3 ligase complex. (PMID: 19158078) Nam S … Lee J (The Journal of biological chemistry 2009) 3 4 58
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
- Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones. (PMID: 12168954) Nakajima D … Nagase T (DNA research : an international journal for rapid publication of reports on genes and genomes 2002) 3 4 58
- 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. (PMID: 10718198) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2000) 3 4 58
Products for KLHL8 Gene
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Sources for KLHL8 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
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