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Aliases for KLHL8 Gene

Aliases for KLHL8 Gene

  • Kelch Like Family Member 8 2 3 5
  • Kelch-Like 8 (Drosophila) 2
  • KIAA1378 4

External Ids for KLHL8 Gene

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.

Gene Wiki entry for KLHL8 Gene

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

Regulatory Elements for KLHL8 Gene

Enhancers for KLHL8 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH04G087219 1.1 ENCODE 8.8 +20.2 20182 2.2 HDGF PKNOX1 CREB3L1 ARNT AGO1 ARID4B SIN3A ZNF2 ZBTB7B YY1 KLHL8 HSD17B13 GC04P087226 GAPDHP60
GH04G087209 1.2 FANTOM5 Ensembl ENCODE 7.5 +30.6 30614 1.4 ETV1 CEBPB ELF1 CEBPG EP300 GABPA YY1 ZNF610 MLLT1 SPI1 KLHL8 AFF1 HSD17B13 HSD17B11 GAPDHP60 GC04P087226
GH04G087165 0.8 ENCODE 7.8 +74.0 74010 1.4 SOX13 FOXA2 CEBPG RARA TEAD3 GATA3 NCOR1 HNF4G GATAD2A SOX5 HSD17B13 KLHL8 LOC100419572 GC04P087116
GH04G087143 0.5 ENCODE 11.1 +95.9 95879 1.6 POLR2A IKZF1 HNF4G KLHL8 AFF1 HSD17B13 LOC100419572 GC04P087116
GH04G087150 0.7 ENCODE 6.2 +89.3 89331 0.2 CTCF ZNF2 RAD21 RFX5 ZNF664 GATA3 ZSCAN5C ZNF143 SMC3 MIXL1 KLHL8 LOC100419572 GC04P087116
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around KLHL8 on UCSC Golden Path with GeneCards custom track

Genomic Location for KLHL8 Gene

Chromosome:
4
Start:
87,160,103 bp from pter
End:
87,240,314 bp from pter
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:
KLHL8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KLHL8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene 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
    Secondary Accessions:
    • 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};

    Alternative splice isoforms for KLHL8 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KLHL8 Gene

Post-translational modifications for KLHL8 Gene

  • Ubiquitination at posLast=99, posLast=343343, and isoforms=2533
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for KLHL8 Gene

Domains & Families for KLHL8 Gene

Gene Families for KLHL8 Gene

Suggested Antigen Peptide Sequences for KLHL8 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with KLHL8: view

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.

Gene Ontology (GO) - Molecular Function for KLHL8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004842 contributes_to ubiquitin-protein transferase activity IBA --
genes like me logo Genes that share ontologies with KLHL8: view
genes like me logo Genes that share phenotypes with KLHL8: view

Animal Models for KLHL8 Gene

MGI Knock Outs for KLHL8:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for KLHL8 Gene

Localization for KLHL8 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KLHL8 gene
Compartment Confidence
nucleus 5
cytosol 3

Gene Ontology (GO) - Cellular Components for KLHL8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0031463 Cul3-RING ubiquitin ligase complex IDA 19158078
genes like me logo Genes that share ontologies with KLHL8: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for KLHL8 Gene

Pathways & Interactions for KLHL8 Gene

SuperPathways for KLHL8 Gene

No Data Available

UniProtKB/Swiss-Prot Q9P2G9-KLHL8_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

Gene Ontology (GO) - Biological Process for KLHL8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016567 protein ubiquitination IDA 19158078
GO:0042787 protein ubiquitination involved in ubiquitin-dependent protein catabolic process IDA 19158078
genes like me logo Genes that share ontologies with KLHL8: view

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 :
(3) Selected AceView cDNA sequences:
(8) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for KLHL8 Gene

Kelch-like family member 8:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for KLHL8 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9
SP1:
SP2: - -

Relevant External Links for KLHL8 Gene

GeneLoc Exon Structure for
KLHL8
ECgene alternative splicing isoforms for
KLHL8

Expression for KLHL8 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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).

Protein differential expression in normal tissues from HIPED for KLHL8 Gene

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, PaxDb, MaxQB, and MOPED for KLHL8 Gene



Protein tissue co-expression partners for KLHL8 Gene

NURSA nuclear receptor signaling pathways regulating expression of KLHL8 Gene:

KLHL8

SOURCE GeneReport for Unigene cluster for KLHL8 Gene:

Hs.106601

Evidence on tissue expression from TISSUES for KLHL8 Gene

  • Nervous system(4.3)
genes like me logo Genes that share expression patterns with KLHL8: view

Primer 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.

Orthologs for KLHL8 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KLHL8 34 35
  • 99.62 (n)
dog
(Canis familiaris)
Mammalia KLHL8 34 35
  • 94.34 (n)
cow
(Bos Taurus)
Mammalia KLHL8 34 35
  • 93.63 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia KLHL8 35
  • 93 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KLHL8 35
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Klhl8 34 16 35
  • 85 (n)
rat
(Rattus norvegicus)
Mammalia Klhl8 34
  • 83.06 (n)
chicken
(Gallus gallus)
Aves KLHL8 34 35
  • 80.41 (n)
lizard
(Anolis carolinensis)
Reptilia KLHL8 35
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia klhl8 34
  • 76.89 (n)
Str.2178 34
zebrafish
(Danio rerio)
Actinopterygii klhl8 35 34
  • 69.39 (n)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3234 34
worm
(Caenorhabditis elegans)
Secernentea kel-8 34 35
  • 49.94 (n)
W02G9.2 36
  • 43 (a)
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)

Paralogs for KLHL8 Gene

genes like me logo Genes that share paralogs with KLHL8: view

Variants for KLHL8 Gene

Sequence variations from dbSNP and Humsavar for KLHL8 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs1000006227 -- 87,169,310(+) AAAAA(A/T)AAATA intron-variant
rs10000784 -- 87,166,331(+) TATCT(A/G)TAAGA intron-variant
rs1000080387 -- 87,184,698(+) TATAA(A/T)CTTCT intron-variant
rs1000101035 -- 87,218,305(+) TGATC(G/T)CAGCT intron-variant
rs1000147206 -- 87,213,257(+) ATGAA(C/T)CTTAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for KLHL8 Gene

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

Variation tolerance for KLHL8 Gene

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)

Relevant External Links for KLHL8 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KLHL8

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KLHL8 Gene

Disorders for KLHL8 Gene

Relevant External Links for KLHL8

Genetic Association Database (GAD)
KLHL8
Human Genome Epidemiology (HuGE) Navigator
KLHL8
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KLHL8

No disorders were found for KLHL8 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for KLHL8 Gene

Publications for KLHL8 Gene

  1. Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. (PMID: 20800603) Flachsbart F. … Nebel A. (Mutat. Res. 2010) 3 46 64
  2. Control of rapsyn stability by the CUL-3-containing E3 ligase complex. (PMID: 19158078) Nam S. … Lee J. (J. Biol. Chem. 2009) 3 4 64
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  4. Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones. (PMID: 12168954) Nakajima D. … Nagase T. (DNA Res. 2002) 3 4 64
  5. 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 Res. 2000) 3 4 64

Products for KLHL8 Gene

Sources for KLHL8 Gene

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