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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 KLHL5.

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 , 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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

Proteomics data for KLHL8 Gene at MOPED

Post-translational modifications for KLHL8 Gene

  • Ubiquitination at Lys 9, Lys 343, and Lys 533
  • 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

Q9P2G9

UniProtKB/Swiss-Prot:

KLHL8_HUMAN :
  • Contains 1 BACK (BTB/Kelch associated) domain.
  • Contains 6 Kelch repeats.
Domain:
  • Contains 1 BACK (BTB/Kelch associated) domain.
  • Contains 1 BTB (POZ) domain.
Similarity:
  • Contains 6 Kelch repeats.
genes like me logo Genes that share domains with KLHL8: view

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

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
Jensen Localization Image for KLHL8 Gene COMPARTMENTS Subcellular localization image for KLHL8 gene
Compartment Confidence
nucleus 5
cytosol 3

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components 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
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

Drugs & Compounds for KLHL8 Gene

No Compound Related Data Available

Transcripts for KLHL8 Gene

mRNA/cDNA for KLHL8 Gene

(5) 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:

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 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, MOPED, and MaxQB for KLHL8 Gene



SOURCE GeneReport for Unigene cluster for KLHL8 Gene Hs.106601

genes like me logo Genes that share expression patterns with KLHL8: view

Protein tissue co-expression partners for KLHL8 Gene

Primer Products

No data available for mRNA Expression by UniProt/SwissProt 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
cow
(Bos Taurus)
Mammalia KLHL8 35
  • 93.63 (n)
  • 96.43 (a)
KLHL8 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KLHL8 35
  • 94.34 (n)
  • 98.22 (a)
KLHL8 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Klhl8 35
  • 85 (n)
  • 93.87 (a)
Klhl8 16
Klhl8 36
  • 93 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia KLHL8 35
  • 99.62 (n)
  • 99.84 (a)
KLHL8 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Klhl8 35
  • 83.06 (n)
  • 93.23 (a)
oppossum
(Monodelphis domestica)
Mammalia KLHL8 36
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KLHL8 36
  • 93 (a)
OneToOne
chicken
(Gallus gallus)
Aves KLHL8 35
  • 80.41 (n)
  • 90.91 (a)
KLHL8 36
  • 91 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KLHL8 36
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia klhl8 35
  • 76.89 (n)
  • 84.74 (a)
Str.2178 35
zebrafish
(Danio rerio)
Actinopterygii klhl8 35
  • 69.39 (n)
  • 82.3 (a)
klhl8 36
  • 81 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3234 35
worm
(Caenorhabditis elegans)
Secernentea W02G9.2 37
  • 43 (a)
kel-8 35
  • 49.94 (n)
  • 44.53 (a)
kel-8 36
  • 34 (a)
OneToOne
Species with no ortholog for KLHL8:
  • 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
rs17854114 - 87,164,058(+) TCAGA(C/G)GAGAA nc-transcript-variant, reference, missense
rs1021105 -- 87,174,282(-) AAAAC(C/T)TGCAG intron-variant
rs964739 -- 87,167,355(-) GATGG(C/T)TCTTT intron-variant
rs967552 -- 87,166,288(-) AGTAG(C/G)AGAAG intron-variant
rs1351535 -- 87,160,629(+) ATAAG(A/T)ATATA nc-transcript-variant, utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
nsv879526 CNV Loss 21882294
esv2727936 CNV Deletion 23290073
esv2727937 CNV Deletion 23290073
nsv822636 CNV Gain 20364138

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)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links 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 48 67
  2. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3
  3. The central role of EED in the orchestration of polycomb group complexes. (PMID: 24457600) Cao Q. … Chinnaiyan A.M. (Nat Commun 2014) 3
  4. Genetic variants associated with disordered eating. (PMID: 23568457) Wade T.D. … Martin N.G. (Int J Eat Disord 2013) 3
  5. Update on the Kelch-like (KLHL) gene family. (PMID: 23676014) Dhanoa B.S. … Friedman J.S. (Hum. Genomics 2013) 3

Products for KLHL8 Gene

Sources for KLHL8 Gene

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