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Aliases for KCTD11 Gene

Aliases for KCTD11 Gene

  • Potassium Channel Tetramerization Domain Containing 11 2 3 5
  • Potassium Channel Tetramerisation Domain Containing 11 2 3
  • RING-Type E3 Ubiquitin Transferase KCTD11 3 4
  • C17orf36 3 4
  • REN 3 4
  • Retinoic Acid, EGF, NGF Induced Gene/Potassium Channel Tetramerization Domain Containing 11 3
  • Retinoic Acid, EGF, NGF Induced Gene Protein 3
  • BTB/POZ Domain-Containing Protein KCTD11 3
  • Chromosome 17 Open Reading Frame 36 2
  • EC 2.3.2.27 4
  • REN/KCTD11 3
  • KCASH1 3

External Ids for KCTD11 Gene

Previous HGNC Symbols for KCTD11 Gene

  • C17orf36

Previous GeneCards Identifiers for KCTD11 Gene

  • GC17P007455
  • GC17P007456
  • GC17P007196
  • GC17P007255
  • GC17P007149

Summaries for KCTD11 Gene

GeneCards Summary for KCTD11 Gene

KCTD11 (Potassium Channel Tetramerization Domain Containing 11) is a Protein Coding gene. Diseases associated with KCTD11 include Medulloblastoma and Infratentorial Cancer. Among its related pathways are Neuropathic Pain-Signaling in Dorsal Horn Neurons and Sweet Taste Signaling. An important paralog of this gene is KCTD21.

UniProtKB/Swiss-Prot for KCTD11 Gene

  • Plays a role as a marker and a regulator of neuronal differentiation; Up-regulated by a variety of neurogenic signals, such as retinoic acid, epidermal growth factor/EGF and NGFB/nerve growth factor. Induces apoptosis, growth arrest and the expression of cyclin-dependent kinase inhibitor CDKN1B. Plays a role as a tumor repressor and inhibits cell growth and tumorigenicity of medulloblastoma (MDB). Acts as an E3 ubiquitin-protein ligase towards HDAC1, leading to its proteasomal degradation. Functions as antagonist of the Hedgehog pathway on cell proliferation and differentiation by affecting the nuclear transfer of transcription factor GLI1, thus maintaining cerebellar granule cells in undifferentiated state, this effect probably occurs via HDAC1 down-regulation, keeping GLI1 acetylated and inactive. When knock-down, Hedgehog antagonism is impaired and proliferation of granule cells is sustained. Activates the caspase cascade.

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KCTD11 Gene

Genomics for KCTD11 Gene

Regulatory Elements for KCTD11 Gene

Enhancers for KCTD11 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
GH17G007474 1.8 FANTOM5 ENCODE dbSUPER 31.8 +128.7 128701 12.5 CREB3L1 AGO1 FEZF1 DMAP1 YBX1 YY1 SLC30A9 ZNF143 ZNF263 SP3 DVL2 CHRNB1 SNORD10 PFAS SNORA48 KCTD11 NEURL4 CTC1 CD68 FGF11
GH17G008149 1.9 FANTOM5 ENCODE dbSUPER 20.5 +805.4 805430 16.0 CREB3L1 MLX AGO1 ZFP64 DMAP1 FEZF1 YY1 ZNF416 ZNF143 ZNF263 DVL2 PER1 PFAS SENP3 CTC1 LOC100996842 ENSG00000265749 VAMP2 SNORD10 SNORA48
GH17G007833 1.9 FANTOM5 ENCODE dbSUPER 20.4 +487.8 487841 12.5 MLX CREB3L1 AGO1 ZFP64 DMAP1 FEZF1 YY1 ZNF416 ZNF143 ZNF548 DVL2 PFAS CTC1 NLGN2 SNORD10 PER1 SNORA48 KDM6B RPL26 VAMP2
GH17G008137 1.7 Ensembl ENCODE dbSUPER 20.5 +787.6 787562 3.7 CREB3L1 ZFP64 DMAP1 YY1 SLC30A9 ZNF416 ZNF143 ZNF263 SP3 NFYC DVL2 PFAS ENSG00000265749 CTC1 SNORD10 CNTROB SENP3 SNORA48 KCTD11 NEURL4
GH17G007571 1.7 Ensembl ENCODE dbSUPER 20.5 +226.3 226270 14.2 MLX CREB3L1 AGO1 ZFP64 DMAP1 YBX1 FEZF1 YY1 SLC30A9 ZNF416 DVL2 PFAS ENSG00000265749 SNORD10 SNORA48 CTC1 CNTROB SAT2 ENSG00000262089 NLGN2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around KCTD11 on UCSC Golden Path with GeneCards custom track

Genomic Location for KCTD11 Gene

Chromosome:
17
Start:
7,351,889 bp from pter
End:
7,354,944 bp from pter
Size:
3,056 bases
Orientation:
Plus strand

Genomic View for KCTD11 Gene

Genes around KCTD11 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KCTD11 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KCTD11 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KCTD11 Gene

Proteins for KCTD11 Gene

  • Protein details for KCTD11 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q693B1-KCD11_HUMAN
    Recommended name:
    BTB/POZ domain-containing protein KCTD11
    Protein Accession:
    Q693B1
    Secondary Accessions:
    • B3KPE0

    Protein attributes for KCTD11 Gene

    Size:
    232 amino acids
    Molecular mass:
    25887 Da
    Quaternary structure:
    • Homotetramer. Component of the BCR(KCTD11) E3 ubiquitin ligase complex, at least composed of CUL3 and KCTD11 and RBX1. Interacts with CUL3.
    Miscellaneous:
    • Haploinsufficiency of KCTD11 may be a cause of development of medulloblastoma (MDB). MDB is a malignant, invasive embryonal tumor of the cerebellum with a preferential manifestation in children. An allelic deletion involving genes from chromosome region 17p11.2-pter, sometimes restricted to 17p13.2-13.3, occurs in up to 50% of MDB.

    Alternative splice isoforms for KCTD11 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KCTD11 Gene

Post-translational modifications for KCTD11 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for KCTD11 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KCTD11 Gene

Domains & Families for KCTD11 Gene

Protein Domains for KCTD11 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for KCTD11 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q693B1

UniProtKB/Swiss-Prot:

KCD11_HUMAN :
  • The BTB domain is required for growth-suppressing properties.
Domain:
  • The BTB domain is required for growth-suppressing properties.
genes like me logo Genes that share domains with KCTD11: view

No data available for Gene Families for KCTD11 Gene

Function for KCTD11 Gene

Molecular function for KCTD11 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.
UniProtKB/Swiss-Prot Function:
Plays a role as a marker and a regulator of neuronal differentiation; Up-regulated by a variety of neurogenic signals, such as retinoic acid, epidermal growth factor/EGF and NGFB/nerve growth factor. Induces apoptosis, growth arrest and the expression of cyclin-dependent kinase inhibitor CDKN1B. Plays a role as a tumor repressor and inhibits cell growth and tumorigenicity of medulloblastoma (MDB). Acts as an E3 ubiquitin-protein ligase towards HDAC1, leading to its proteasomal degradation. Functions as antagonist of the Hedgehog pathway on cell proliferation and differentiation by affecting the nuclear transfer of transcription factor GLI1, thus maintaining cerebellar granule cells in undifferentiated state, this effect probably occurs via HDAC1 down-regulation, keeping GLI1 acetylated and inactive. When knock-down, Hedgehog antagonism is impaired and proliferation of granule cells is sustained. Activates the caspase cascade.

Enzyme Numbers (IUBMB) for KCTD11 Gene

Gene Ontology (GO) - Molecular Function for KCTD11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016740 transferase activity IEA --
GO:0042802 identical protein binding IPI 27152988
genes like me logo Genes that share ontologies with KCTD11: view
genes like me logo Genes that share phenotypes with KCTD11: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for KCTD11 Gene

Localization for KCTD11 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 KCTD11 gene
Compartment Confidence
mitochondrion 2
nucleus 2
extracellular 1
cytosol 1

Gene Ontology (GO) - Cellular Components for KCTD11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with KCTD11: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for KCTD11 Gene

Pathways & Interactions for KCTD11 Gene

genes like me logo Genes that share pathways with KCTD11: view

UniProtKB/Swiss-Prot Q693B1-KCD11_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

Interacting Proteins for KCTD11 Gene

Gene Ontology (GO) - Biological Process for KCTD11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007049 cell cycle IEA --
GO:0007275 multicellular organism development IEA --
GO:0007399 nervous system development IEA --
GO:0007406 negative regulation of neuroblast proliferation IEA --
GO:0016567 protein ubiquitination IEA --
genes like me logo Genes that share ontologies with KCTD11: view

No data available for SIGNOR curated interactions for KCTD11 Gene

Drugs & Compounds for KCTD11 Gene

No Compound Related Data Available

Transcripts for KCTD11 Gene

mRNA/cDNA for KCTD11 Gene

Unigene Clusters for KCTD11 Gene

Potassium channel tetramerisation domain containing 11:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for KCTD11 Gene

No ASD Table

Relevant External Links for KCTD11 Gene

GeneLoc Exon Structure for
KCTD11
ECgene alternative splicing isoforms for
KCTD11

Expression for KCTD11 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KCTD11 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

NURSA nuclear receptor signaling pathways regulating expression of KCTD11 Gene:

KCTD11

SOURCE GeneReport for Unigene cluster for KCTD11 Gene:

Hs.592112

mRNA Expression by UniProt/SwissProt for KCTD11 Gene:

Q693B1-KCD11_HUMAN
Tissue specificity: Higher expression in cerebellum than in whole brain and lower expression in medulloblastoma.
genes like me logo Genes that share expression patterns with KCTD11: view

Primer Products

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for KCTD11 Gene

Orthologs for KCTD11 Gene

This gene was present in the common ancestor of chordates.

Orthologs for KCTD11 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KCTD11 34 35
  • 99.57 (n)
dog
(Canis familiaris)
Mammalia KCTD11 34
  • 89.51 (n)
cow
(Bos Taurus)
Mammalia KCTD11 34 35
  • 88.65 (n)
mouse
(Mus musculus)
Mammalia Kctd11 34 16 35
  • 85.49 (n)
rat
(Rattus norvegicus)
Mammalia Kctd11 34
  • 85.2 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 72 (a)
OneToMany
-- 35
  • 72 (a)
OneToMany
chicken
(Gallus gallus)
Aves KCTD7 35
  • 16 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 17 (a)
OneToMany
Species where no ortholog for KCTD11 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)
  • 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)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for KCTD11 Gene

ENSEMBL:
Gene Tree for KCTD11 (if available)
TreeFam:
Gene Tree for KCTD11 (if available)

Paralogs for KCTD11 Gene

Paralogs for KCTD11 Gene

(1) SIMAP similar genes for KCTD11 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with KCTD11: view

Variants for KCTD11 Gene

Sequence variations from dbSNP and Humsavar for KCTD11 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs1000335578 -- 7,354,528(+) CACAG(G/T)GTGTG nc-transcript-variant, upstream-variant-2KB, utr-variant-3-prime
rs1000430496 -- 7,354,202(+) GTTGA(C/T)GTATG nc-transcript-variant, upstream-variant-2KB, utr-variant-3-prime
rs1000706354 -- 7,354,589(+) CACGT(A/G)GCCAG nc-transcript-variant, upstream-variant-2KB, utr-variant-3-prime
rs1000987455 -- 7,353,345(+) GTCTA(A/G)GTGCT nc-transcript-variant, upstream-variant-2KB, reference, missense
rs1001348148 -- 7,353,134(+) TTCTA(C/T)CAGAT nc-transcript-variant, upstream-variant-2KB, reference, synonymous-codon

Structural Variations from Database of Genomic Variants (DGV) for KCTD11 Gene

Variant ID Type Subtype PubMed ID
esv2422288 CNV deletion 17116639
nsv457659 CNV loss 19166990
nsv574322 CNV loss 21841781
nsv952118 CNV deletion 24416366

Variation tolerance for KCTD11 Gene

Residual Variation Intolerance Score: 48.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.58; 44.81% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KCTD11 Gene

Human Gene Mutation Database (HGMD)
KCTD11
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KCTD11

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KCTD11 Gene

Disorders for KCTD11 Gene

MalaCards: The human disease database

(2) MalaCards diseases for KCTD11 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
medulloblastoma
  • medulloblastoma, desmoplastic
infratentorial cancer
  • brain neoplasm, infratentorial
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for KCTD11

Human Genome Epidemiology (HuGE) Navigator
KCTD11
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KCTD11
genes like me logo Genes that share disorders with KCTD11: view

No data available for UniProtKB/Swiss-Prot and Genatlas for KCTD11 Gene

Publications for KCTD11 Gene

  1. Molecular organization of the cullin E3 ligase adaptor KCTD11. (PMID: 21237243) Correale S. … Pedone E.M. (Biochimie 2011) 3 4 64
  2. Identification and characterization of KCASH2 and KCASH3, 2 novel Cullin3 adaptors suppressing histone deacetylase and Hedgehog activity in medulloblastoma. (PMID: 21472142) De Smaele E. … Gulino A. (Neoplasia 2011) 2 3 64
  3. Histone deacetylase and Cullin3-REN(KCTD11) ubiquitin ligase interplay regulates Hedgehog signalling through Gli acetylation. (PMID: 20081843) Canettieri G. … Gulino A. (Nat. Cell Biol. 2010) 3 4 64
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  5. 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 64

Products for KCTD11 Gene

Sources for KCTD11 Gene

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