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Aliases for KBTBD11 Gene

Aliases for KBTBD11 Gene

  • Kelch Repeat And BTB Domain Containing 11 2 3 5
  • Chronic Myelogenous Leukemia-Associated Protein 3 4
  • Kelch Repeat And BTB (POZ) Domain Containing 11 2 3
  • 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 KLHDC7B.

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

GeneHancer (GH) Regulatory Elements for KBTBD11 Gene

Promoters and enhancers for KBTBD11 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH08J001972 Promoter/Enhancer 2 EPDnew Ensembl ENCODE dbSUPER 658.5 +4.0 3996 3.9 PKNOX1 FEZF1 ZNF2 YY1 ZNF335 ZNF213 EGR1 EGR2 PHF21A ZEB2 LOC101928058 KBTBD11 ENSG00000270988 KBTBD11-OT1
GH08J001971 Promoter/Enhancer 1.2 EPDnew dbSUPER 650.7 +0.6 600 0.1 FEZF1 ZNF366 RCOR1 ZNF600 CHD2 ZBTB8A ZEB2 ZNF843 OSR2 PRDM6 KBTBD11 KBTBD11-OT1
GH08J001955 Promoter/Enhancer 1.4 EPDnew ENCODE dbSUPER 15.7 -13.3 -13331 3.4 MEIS2 FOXA2 MAX CEBPG RAD21 YY1 ZNF121 ZNF766 POLR2A ATF7 ARHGEF10 KBTBD11 LOC100131395
GH08J001951 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE dbSUPER 13.8 -17.7 -17731 2.5 SP1 POLR2A MAX HNF4A YY1 ARHGEF10 KBTBD11 LOC101928058 LOC100131395 GC08P001427
GH08J001947 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 13.8 -21.5 -21508 2.6 L3MBTL2 MAX CEBPG REST ZNF395 ATF4 POLR2A ZNF157 IKZF1 FOXP2 KBTBD11 LOC100131395 ARHGEF10 GC08P001427
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KBTBD11 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the KBTBD11 gene promoter:
  • Elk-1
  • NF-kappaB2
  • NF-kappaB1
  • NF-kappaB
  • HOXA9
  • HOXA9B
  • Meis-1
  • Meis-1a
  • Bach1
  • Nkx6-1

Genomic Locations for KBTBD11 Gene

Genomic Locations for KBTBD11 Gene
chr8:1,970,710-2,006,943
(GRCh38/hg38)
Size:
36,234 bases
Orientation:
Plus strand
chr8:1,922,044-1,955,109
(GRCh37/hg19)
Size:
33,066 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 Lys614 and Lys244
  • 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 --
GO:0005515 protein binding IEA --
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

Clone Products

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

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:

Clone Products

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, 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

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 16 34 33
  • 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 34 33
  • 68.24 (n)
OneToOne
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)
Aminode:
Evolutionary constrained regions (ECRs) for KBTBD11: view image

Paralogs for KBTBD11 Gene

Paralogs for KBTBD11 Gene

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

  • KBTBB_HUMAN
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 Variation AA Info Type
rs1000026692 -- 1,982,644(+) G/A genic_upstream_transcript_variant, intron_variant
rs1000095658 -- 1,971,099(+) G/A 5_prime_UTR_variant, genic_upstream_transcript_variant
rs1000113146 -- 2,004,767(+) T/G 3_prime_UTR_variant
rs1000219272 -- 1,982,111(+) A/C genic_upstream_transcript_variant, intron_variant
rs1000324478 -- 1,981,773(+) C/A/G genic_upstream_transcript_variant, 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)

Additional Variant Information 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

Additional Disease Information for 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 58
  2. Genome-wide association study of selenium concentrations. (PMID: 25343990) Cornelis MC … He K (Human molecular genetics 2015) 3 58
  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 58
  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 58
  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 58

Products for KBTBD11 Gene

Sources for KBTBD11 Gene

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