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Aliases for KBTBD11 Gene

Aliases for KBTBD11 Gene

  • Kelch Repeat And BTB Domain Containing 11 2 3 5
  • Kelch Repeat And BTB (POZ) Domain Containing 11 2 3
  • Chronic Myelogenous Leukemia-Associated Protein 3 4
  • Kelch Domain-Containing Protein 7B 3 4
  • KLHDC7C 3 4
  • Kelch Repeat And BTB Domain-Containing Protein 11 3
  • KIAA0711 4
  • CMLAP 4

External Ids for KBTBD11 Gene

Previous GeneCards Identifiers for KBTBD11 Gene

  • GC08U900604
  • GC08P001912
  • GC08P001764

Summaries for KBTBD11 Gene

GeneCards Summary for KBTBD11 Gene

KBTBD11 (Kelch Repeat And BTB Domain Containing 11) is a Protein Coding gene. An important paralog of this gene is KLHDC7A.

Additional gene information for KBTBD11 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KBTBD11 Gene

Genomics for KBTBD11 Gene

Regulatory Elements for KBTBD11 Gene

Enhancers for KBTBD11 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
GH08H001947 1.6 FANTOM5 Ensembl ENCODE dbSUPER 13.8 -21.5 -21508 2 L3MBTL2 ZNF175 MAX CEBPG REST ZNF589 POLR2A ZNF157 IKZF1 FOXP2 KBTBD11 LOC100131395
GH08H001998 1.4 Ensembl ENCODE dbSUPER 11.3 +32.6 32634 9 SIN3A ZNF2 RFX5 GLIS2 ZEB2 ZNF398 ZNF341 GLIS1 HNF4A MYC KBTBD11 PIR41498 ENSG00000270988
GH08H001955 1 ENCODE dbSUPER 15.7 -13.3 -13332 3 FOXA2 MAX CEBPG RAD21 YY1 ZNF121 ZNF766 POLR2A ATF7 L3MBTL2 KBTBD11 LOC100131395
GH08H001999 0.8 ENCODE dbSUPER 18.7 +27.8 27820 0 OSR2 NFE2 ZBTB8A ZXDB TRIM28 KBTBD11 LOC101928058 PIR41498 ENSG00000270988
GH08H001991 0.8 ENCODE dbSUPER 18.3 +21.4 21403 1 SCRT1 ZNF316 POLR2A GLIS1 SCRT2 EMSY MAFK KBTBD11 PIR41498 ENSG00000270988
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around KBTBD11 on UCSC Golden Path with GeneCards custom track

Genomic Location for KBTBD11 Gene

Chromosome:
8
Start:
1,970,710 bp from pter
End:
2,006,943 bp from pter
Size:
36,234 bases
Orientation:
Plus strand

Genomic View for KBTBD11 Gene

Genes around KBTBD11 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KBTBD11 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KBTBD11 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KBTBD11 Gene

Proteins for KBTBD11 Gene

  • Protein details for KBTBD11 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O94819-KBTBB_HUMAN
    Recommended name:
    Kelch repeat and BTB domain-containing protein 11
    Protein Accession:
    O94819
    Secondary Accessions:
    • Q3L1I0

    Protein attributes for KBTBD11 Gene

    Size:
    623 amino acids
    Molecular mass:
    65720 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAA34431.2; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for KBTBD11 Gene

Post-translational modifications for KBTBD11 Gene

  • Ubiquitination at isoforms=244 and posLast=614614
  • Modification sites at PhosphoSitePlus

Other Protein References for KBTBD11 Gene

No data available for DME Specific Peptides for KBTBD11 Gene

Domains & Families for KBTBD11 Gene

Gene Families for KBTBD11 Gene

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

Protein Domains for KBTBD11 Gene

Suggested Antigen Peptide Sequences for KBTBD11 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with KBTBD11: view

No data available for UniProtKB/Swiss-Prot for KBTBD11 Gene

Function for KBTBD11 Gene

Phenotypes From GWAS Catalog for KBTBD11 Gene

Gene Ontology (GO) - Molecular Function for KBTBD11 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 KBTBD11: view
genes like me logo Genes that share phenotypes with KBTBD11: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for KBTBD11
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for KBTBD11 Gene

Localization for KBTBD11 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 KBTBD11 gene
Compartment Confidence
plasma membrane 2
nucleus 2
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Intermediate filaments (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for KBTBD11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031463 Cul3-RING ubiquitin ligase complex IBA --
genes like me logo Genes that share ontologies with KBTBD11: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for KBTBD11 Gene

Pathways & Interactions for KBTBD11 Gene

SuperPathways for KBTBD11 Gene

No Data Available

Interacting Proteins for KBTBD11 Gene

STRING Interaction Network Preview (showing 5 interactants - click image to see 8)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000321544%0d%0a9606.ENSP00000393596%0d%0a9606.ENSP00000323687%0d%0a9606.ENSP00000264414%0d%0a9606.ENSP00000384109%0d%0a9606.ENSP00000364589%0d%0a
Selected Interacting proteins: ENSP00000321544 O94819-KBTBB_HUMAN for KBTBD11 Gene via STRING IID

Gene Ontology (GO) - Biological Process for KBTBD11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016567 protein ubiquitination IEA --
genes like me logo Genes that share ontologies with KBTBD11: view

No data available for Pathways by source and SIGNOR curated interactions for KBTBD11 Gene

Drugs & Compounds for KBTBD11 Gene

No Compound Related Data Available

Transcripts for KBTBD11 Gene

mRNA/cDNA for KBTBD11 Gene

(7) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for KBTBD11 Gene

Kelch repeat and BTB (POZ) domain containing 11:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for KBTBD11
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for KBTBD11 Gene

No ASD Table

Relevant External Links for KBTBD11 Gene

GeneLoc Exon Structure for
KBTBD11
ECgene alternative splicing isoforms for
KBTBD11

Expression for KBTBD11 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KBTBD11 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KBTBD11 Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (x4.6), Brain - Cortex (x4.2), and Brain - Anterior cingulate cortex (BA24) (x4.1).

Protein differential expression in normal tissues from HIPED for KBTBD11 Gene

This gene is overexpressed in Frontal cortex (23.8), Brain (14.6), Spinal cord (12.7), and Fetal Brain (7.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for KBTBD11 Gene



Protein tissue co-expression partners for KBTBD11 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of KBTBD11 Gene:

KBTBD11

SOURCE GeneReport for Unigene cluster for KBTBD11 Gene:

Hs.5333

Evidence on tissue expression from TISSUES for KBTBD11 Gene

  • Nervous system(4.9)
  • Liver(4.1)
genes like me logo Genes that share expression patterns with KBTBD11: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for KBTBD11 Gene

Orthologs for KBTBD11 Gene

This gene was present in the common ancestor of chordates.

Orthologs for KBTBD11 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KBTBD11 34
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia LOC518907 33
  • 86.1 (n)
KBTBD11 34
  • 81 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Kbtbd11 33 16 34
  • 82.07 (n)
rat
(Rattus norvegicus)
Mammalia Kbtbd11 33
  • 81.8 (n)
oppossum
(Monodelphis domestica)
Mammalia KBTBD11 34
  • 60 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KBTBD11 34
  • 58 (a)
OneToOne
chicken
(Gallus gallus)
Aves KBTBD11 33 34
  • 68.24 (n)
lizard
(Anolis carolinensis)
Reptilia KBTBD11 34
  • 62 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kbtbd11 33
  • 59.51 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC557467 33
  • 56.46 (n)
KBTBD11 34
  • 52 (a)
OneToOne
Species where no ortholog for KBTBD11 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)
  • dog (Canis familiaris)
  • 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 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)
  • worm (Caenorhabditis elegans)

Evolution for KBTBD11 Gene

ENSEMBL:
Gene Tree for KBTBD11 (if available)
TreeFam:
Gene Tree for KBTBD11 (if available)

Paralogs for KBTBD11 Gene

Paralogs for KBTBD11 Gene

(1) SIMAP similar genes for KBTBD11 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with KBTBD11: view

Variants for KBTBD11 Gene

Sequence variations from dbSNP and Humsavar for KBTBD11 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
rs1000026692 -- 1,982,644(+) AAACT(A/G)TCAAG intron-variant
rs1000095658 -- 1,971,099(+) GCCAA(A/G)GCCAA downstream-variant-500B, upstream-variant-2KB, utr-variant-5-prime
rs1000113146 -- 2,004,767(+) TCGCC(G/T)GACTT utr-variant-3-prime
rs1000219272 -- 1,982,111(+) AAAAC(A/C)TAAAA intron-variant
rs1000324478 -- 1,981,773(+) CCAGC(A/C)TTTGG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for KBTBD11 Gene

Variant ID Type Subtype PubMed ID
dgv1161n67 CNV gain 20364138
dgv11829n54 CNV gain 21841781
dgv11830n54 CNV gain+loss 21841781
dgv1261e199 CNV deletion 23128226
esv1613551 CNV deletion 17803354
esv1657589 CNV deletion 17803354
esv22610 CNV loss 19812545
esv26547 CNV loss 19812545
esv28022 CNV loss 19812545
esv3402043 CNV insertion 20981092
esv3615851 CNV loss 21293372
esv3891267 CNV gain 25118596
esv6680 CNV gain 19470904
nsv1019578 CNV gain 25217958
nsv1024325 CNV gain 25217958
nsv1025591 CNV gain 25217958
nsv1031801 CNV gain 25217958
nsv1075091 CNV deletion 25765185
nsv1076039 CNV deletion 25765185
nsv1133682 CNV deletion 24896259
nsv1144214 CNV deletion 24896259
nsv1144215 CNV deletion 24896259
nsv528662 CNV loss 19592680
nsv609531 CNV gain 21841781
nsv609556 CNV gain 21841781
nsv609562 CNV gain 21841781
nsv609564 CNV loss 21841781
nsv950276 CNV deletion 24416366

Variation tolerance for KBTBD11 Gene

Gene Damage Index Score: 1.43; 28.13% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KBTBD11 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KBTBD11

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KBTBD11 Gene

Disorders for KBTBD11 Gene

Relevant External Links for KBTBD11

Genetic Association Database (GAD)
KBTBD11
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KBTBD11

No disorders were found for KBTBD11 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for KBTBD11 Gene

Publications for KBTBD11 Gene

  1. Prediction of the coding sequences of unidentified human genes. XI. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 9872452) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1998) 3 4 60
  2. Genome-wide association study of selenium concentrations. (PMID: 25343990) Cornelis MC … He K (Human molecular genetics 2015) 3 60
  3. An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome. (PMID: 24275569) Bian Y … Zou H (Journal of proteomics 2014) 4 60
  4. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. (PMID: 23251661) Comuzzie AG … Butte NF (PloS one 2012) 3 60
  5. Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach. (PMID: 19413330) Gauci S … Mohammed S (Analytical chemistry 2009) 4 60

Products for KBTBD11 Gene

Sources for KBTBD11 Gene

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