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Aliases for KLHL8 Gene

Aliases for KLHL8 Gene

  • Kelch-Like Family Member 8 2 3
  • KIAA1378 4 6
  • Kelch-Like 8 (Drosophila) 2

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 KLHL10.

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

Genomic Location for KLHL8 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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 Lys9, Lys343, and Lys533
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for KLHL8 Gene

Domains for KLHL8 Gene

Gene Families for KLHL8 Gene

HGNC:
  • BTBD :BTB/POZ domain containing
  • KLHL :Kelch-like

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 :
  • Q9P2G9
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:0005515 protein binding --
genes like me logo Genes that share ontologies with KLHL8: view

Phenotypes for KLHL8 Gene

MGI mutant phenotypes for KLHL8:
inferred from 1 alleles
GenomeRNAi human phenotypes for KLHL8:
genes like me logo Genes that share phenotypes with KLHL8: view

miRNA for KLHL8 Gene

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting 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 4
cytosol 3

Gene Ontology (GO) - Cellular Components for KLHL8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus --
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 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 for KLHL8 Gene

Transcripts for KLHL8 Gene

mRNA/cDNA for KLHL8 Gene

(10) Additional mRNA sequences :
(5) REFSEQ mRNAs :
(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 (4.0).

Integrated Proteomics: protein expression 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 expressions with KLHL8: view

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
chimpanzee
(Pan troglodytes)
Mammalia KLHL8 35
  • 99.62 (n)
  • 99.84 (a)
KLHL8 36
  • 100 (a)
OneToOne
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
oppossum
(Monodelphis domestica)
Mammalia KLHL8 36
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KLHL8 36
  • 93 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Klhl8 35
  • 83.06 (n)
  • 93.23 (a)
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
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3234 35
zebrafish
(Danio rerio)
Actinopterygii klhl8 35
  • 69.39 (n)
  • 82.3 (a)
klhl8 36
  • 81 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea kel-8 35
  • 49.94 (n)
  • 44.53 (a)
kel-8 36
  • 34 (a)
OneToOne
W02G9.2 37
  • 43 (a)
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 MAF
rs964739 -- 87,167,355(-) GATGG(C/T)TCTTT intron-variant
rs967552 -- 87,166,288(-) AGTAG(C/G)AGAAG intron-variant
rs1021105 -- 87,174,282(-) AAAAC(C/T)TGCAG intron-variant
rs1351535 -- 87,160,629(+) ATAAG(A/T)ATATA utr-variant-3-prime, nc-transcript-variant
rs1481947 -- 87,159,990(+) ACCTA(C/T)TCAAT intron-variant, downstream-variant-500B

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

Relevant External Links for KLHL8 Gene

HapMap Linkage Disequilibrium report
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
genes like me logo Genes that share disorders with KLHL8: view

No data available for UniProtKB/Swiss-Prot for KLHL8 Gene

Publications for KLHL8 Gene

  1. 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
  2. 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
  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
  4. Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. (PMID: 20800603) Flachsbart F. … Nebel A. (Mutat. Res. 2010) 3 48
  5. Control of rapsyn stability by the CUL-3-containing E3 ligase complex. (PMID: 19158078) Nam S. … Lee J. (J. Biol. Chem. 2009) 3 4

Products for KLHL8 Gene

Sources for KLHL8 Gene

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