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Aliases for KBTBD8 Gene

Aliases for KBTBD8 Gene

  • Kelch Repeat And BTB Domain Containing 8 2 3 5
  • T-Cell Activation Kelch Repeat Protein 2 3 4
  • Kelch Repeat And BTB (POZ) Domain Containing 8 2 3
  • TA-KRP 3 4
  • TAKRP 3 4
  • Kelch Repeat And BTB Domain-Containing Protein 8 3
  • KIAA1842 4

External Ids for KBTBD8 Gene

Previous GeneCards Identifiers for KBTBD8 Gene

  • GC03P067132

Summaries for KBTBD8 Gene

GeneCards Summary for KBTBD8 Gene

KBTBD8 (Kelch Repeat And BTB Domain Containing 8) is a Protein Coding gene. Among its related pathways are Class I MHC mediated antigen processing and presentation and Innate Immune System. An important paralog of this gene is KBTBD2.

UniProtKB/Swiss-Prot for KBTBD8 Gene

  • Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex that acts as a regulator of neural crest specification (PubMed:26399832). The BCR(KBTBD8) complex acts by mediating monoubiquitination of NOLC1 and TCOF1: monoubiquitination promotes the formation of a NOLC1-TCOF1 complex that acts as a platform to connect RNA polymerase I with enzymes responsible for ribosomal processing and modification, leading to remodel the translational program of differentiating cells in favor of neural crest specification (PubMed:26399832).

Additional gene information for KBTBD8 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KBTBD8 Gene

Genomics for KBTBD8 Gene

Regulatory Elements for KBTBD8 Gene

Enhancers for KBTBD8 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
GH03H066997 1.7 FANTOM5 Ensembl ENCODE 26.3 +1.3 1310 4 HDGF PKNOX1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 FOS KBTBD8 GC03M067025
GH03H067015 1.2 Ensembl ENCODE 0.4 +18.4 18436 1 PKNOX1 FOXA2 ATF1 ARNT TCF12 GATA2 ATF7 RUNX3 NCOA1 MEF2D GC03M067025 KBTBD8
GH03H066988 0.8 ENCODE 0.4 -8.7 -8680 2 GTF2F1 CTCF MAX EBF1 ZNF644 RAD21 YY1 RFX5 ZNF316 EED KBTBD8 LOC105377144
GH03H067018 1 Ensembl ENCODE 0.3 +20.4 20435 0 ZSCAN18 CTBP1 ZBTB48 ZBTB20 NFIA L3MBTL2 ZBTB11 CEBPB JUNB PPARG GC03M067025 KBTBD8
GH03H067006 0.4 ENCODE 0.4 +8.3 8329 0 PRDM6 ZXDB KBTBD8 GC03M067025
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around KBTBD8 on UCSC Golden Path with GeneCards custom track

Promoters for KBTBD8 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000154005 197 1801 HDGF PKNOX1 ATF1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 ETS1

Genomic Location for KBTBD8 Gene

Chromosome:
3
Start:
66,998,303 bp from pter
End:
67,011,211 bp from pter
Size:
12,909 bases
Orientation:
Plus strand

Genomic View for KBTBD8 Gene

Genes around KBTBD8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KBTBD8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KBTBD8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KBTBD8 Gene

Proteins for KBTBD8 Gene

  • Protein details for KBTBD8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NFY9-KBTB8_HUMAN
    Recommended name:
    Kelch repeat and BTB domain-containing protein 8
    Protein Accession:
    Q8NFY9
    Secondary Accessions:
    • B4DTW6
    • Q96JI5

    Protein attributes for KBTBD8 Gene

    Size:
    601 amino acids
    Molecular mass:
    68823 Da
    Quaternary structure:
    • Component of the BCR(KBTBD8) E3 ubiquitin ligase complex, at least composed of CUL3, KBTBD8 and RBX1 (PubMed:26399832).
    SequenceCaution:
    • Sequence=AAI17488.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAM43839.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for KBTBD8 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KBTBD8 Gene

Post-translational modifications for KBTBD8 Gene

  • Ubiquitination at posLast=268268
  • Modification sites at PhosphoSitePlus

Other Protein References for KBTBD8 Gene

No data available for DME Specific Peptides for KBTBD8 Gene

Domains & Families for KBTBD8 Gene

Gene Families for KBTBD8 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Graphical View of Domain Structure for InterPro Entry

Q8NFY9

UniProtKB/Swiss-Prot:

KBTB8_HUMAN :
  • Belongs to the KBTBD8 family.
Family:
  • Belongs to the KBTBD8 family.
genes like me logo Genes that share domains with KBTBD8: view

Function for KBTBD8 Gene

Molecular function for KBTBD8 Gene

UniProtKB/Swiss-Prot Function:
Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex that acts as a regulator of neural crest specification (PubMed:26399832). The BCR(KBTBD8) complex acts by mediating monoubiquitination of NOLC1 and TCOF1: monoubiquitination promotes the formation of a NOLC1-TCOF1 complex that acts as a platform to connect RNA polymerase I with enzymes responsible for ribosomal processing and modification, leading to remodel the translational program of differentiating cells in favor of neural crest specification (PubMed:26399832).

Phenotypes From GWAS Catalog for KBTBD8 Gene

Gene Ontology (GO) - Molecular Function for KBTBD8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004842 contributes_to ubiquitin-protein transferase activity IBA --
GO:0005515 protein binding IPI 26399832
genes like me logo Genes that share ontologies with KBTBD8: view
genes like me logo Genes that share phenotypes with KBTBD8: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for KBTBD8
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for KBTBD8 Gene

Localization for KBTBD8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KBTBD8 Gene

Cytoplasm, cytoskeleton, spindle. Golgi apparatus. Note=Translocates to the spindle apparatus during mitosis. {ECO:0000269 PubMed:23578279}.

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 KBTBD8 gene
Compartment Confidence
cytosol 5
cytoskeleton 4
golgi apparatus 4
plasma membrane 2
nucleus 2

Gene Ontology (GO) - Cellular Components for KBTBD8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005794 Golgi apparatus IEA --
GO:0005819 spindle IEA --
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton IEA --
genes like me logo Genes that share ontologies with KBTBD8: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for KBTBD8 Gene

Pathways & Interactions for KBTBD8 Gene

genes like me logo Genes that share pathways with KBTBD8: view

Gene Ontology (GO) - Biological Process for KBTBD8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006417 regulation of translation IEA --
GO:0006513 protein monoubiquitination IDA 26399832
GO:0014029 neural crest formation IMP 26399832
GO:0014032 neural crest cell development IMP 26399832
GO:0042787 protein ubiquitination involved in ubiquitin-dependent protein catabolic process IBA --
genes like me logo Genes that share ontologies with KBTBD8: view

No data available for SIGNOR curated interactions for KBTBD8 Gene

Drugs & Compounds for KBTBD8 Gene

No Compound Related Data Available

Transcripts for KBTBD8 Gene

Unigene Clusters for KBTBD8 Gene

Kelch repeat and BTB (POZ) domain containing 8:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for KBTBD8
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for KBTBD8 Gene

ExUns: 1 ^ 2a · 2b ^ 3a · 3b · 3c ^ 4a · 4b
SP1: -
SP2: - - - - -
SP3: - -
SP4:

Relevant External Links for KBTBD8 Gene

GeneLoc Exon Structure for
KBTBD8
ECgene alternative splicing isoforms for
KBTBD8

Expression for KBTBD8 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KBTBD8 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for KBTBD8 Gene

This gene is overexpressed in Bone marrow mesenchymal stem cell (56.0) and Testis (11.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for KBTBD8 Gene



Protein tissue co-expression partners for KBTBD8 Gene

NURSA nuclear receptor signaling pathways regulating expression of KBTBD8 Gene:

KBTBD8

SOURCE GeneReport for Unigene cluster for KBTBD8 Gene:

Hs.116665

Evidence on tissue expression from TISSUES for KBTBD8 Gene

  • Lung(4.2)
  • Blood(4.1)
  • Nervous system(4.1)
genes like me logo Genes that share expression patterns with KBTBD8: view

Primer Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for KBTBD8 Gene

Orthologs for KBTBD8 Gene

This gene was present in the common ancestor of chordates.

Orthologs for KBTBD8 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KBTBD8 33 34
  • 99.78 (n)
dog
(Canis familiaris)
Mammalia KBTBD8 33 34
  • 94.51 (n)
cow
(Bos Taurus)
Mammalia KBTBD8 33 34
  • 94.01 (n)
mouse
(Mus musculus)
Mammalia Kbtbd8 33 16 34
  • 93.04 (n)
rat
(Rattus norvegicus)
Mammalia Kbtbd8 33
  • 92.51 (n)
oppossum
(Monodelphis domestica)
Mammalia KBTBD8 34
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KBTBD8 34
  • 88 (a)
OneToOne
chicken
(Gallus gallus)
Aves KBTBD8 33 34
  • 85.97 (n)
lizard
(Anolis carolinensis)
Reptilia KBTBD8 34
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kbtbd8 33
  • 76.2 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.13285 33
zebrafish
(Danio rerio)
Actinopterygii kbtbd8 33 34
  • 69.33 (n)
wufc57a10 33
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 24 (a)
OneToMany
Species where no ortholog for KBTBD8 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for KBTBD8 Gene

ENSEMBL:
Gene Tree for KBTBD8 (if available)
TreeFam:
Gene Tree for KBTBD8 (if available)

Paralogs for KBTBD8 Gene

Paralogs for KBTBD8 Gene

genes like me logo Genes that share paralogs with KBTBD8: view

Variants for KBTBD8 Gene

Sequence variations from dbSNP and Humsavar for KBTBD8 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
VAR_036082 A breast cancer sample
VAR_036083 A breast cancer sample
rs1000038680 -- 67,011,274(+) AAAAA(A/C/T)CATGA downstream-variant-500B
rs1000092257 -- 67,011,006(+) AAATG(G/T)ATGTG utr-variant-3-prime
rs1000194199 -- 67,003,834(+) ATCAT(A/G)TGTTT reference, missense

Structural Variations from Database of Genomic Variants (DGV) for KBTBD8 Gene

Variant ID Type Subtype PubMed ID
nsv1003158 CNV loss 25217958
nsv1005823 CNV gain 25217958
nsv508220 CNV deletion 20534489
nsv590546 CNV gain 21841781

Variation tolerance for KBTBD8 Gene

Residual Variation Intolerance Score: 10.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.26; 76.36% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KBTBD8 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KBTBD8

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KBTBD8 Gene

Disorders for KBTBD8 Gene

Relevant External Links for KBTBD8

Genetic Association Database (GAD)
KBTBD8
Human Genome Epidemiology (HuGE) Navigator
KBTBD8
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KBTBD8

No disorders were found for KBTBD8 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for KBTBD8 Gene

Publications for KBTBD8 Gene

  1. Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 11347906) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2001) 2 3 4 60
  2. Cell-fate determination by ubiquitin-dependent regulation of translation. (PMID: 26399832) Werner A … Rape M (Nature 2015) 3 4 60
  3. Identification of 15 loci influencing height in a Korean population. (PMID: 19893584) Kim JJ … Lee JK (Journal of human genetics 2010) 3 45 60
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  5. 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 60

Products for KBTBD8 Gene

Sources for KBTBD8 Gene

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