Aliases for KCTD11 Gene

Aliases for KCTD11 Gene

  • Potassium Channel Tetramerization Domain Containing 11 2 3 5
  • Potassium Channel Tetramerization Domain-Containing Protein 11 3 4
  • RING-Type E3 Ubiquitin Transferase Subunit KCTD11 3 4
  • BTB/POZ Domain-Containing Protein KCTD11 3 4
  • C17orf36 3 4
  • REN 3 4
  • Potassium Channel Tetramerisation Domain Containing 11 2
  • Retinoic Acid, EGF, NGF Induced Gene Protein 3
  • Chromosome 17 Open Reading Frame 36 2
  • KCASH1 Protein 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. Among its related pathways are Sweet Taste Signaling and Neuropathic Pain-Signaling in Dorsal Horn Neurons. An important paralog of this gene is KCTD21.

UniProtKB/Swiss-Prot Summary 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 probable substrate-specific adapter for a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex towards HDAC1. 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.

Additional gene information for KCTD11 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KCTD11 Gene

Genomics for KCTD11 Gene

GeneHancer (GH) Regulatory Elements for KCTD11 Gene

Promoters and enhancers for KCTD11 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KCTD11 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KCTD11

Top Transcription factor binding sites by QIAGEN in the KCTD11 gene promoter:
  • Bach1
  • E47
  • Elk-1
  • Hand1
  • MyoD
  • NRSF form 1
  • NRSF form 2
  • RREB-1
  • Zic3

Genomic Locations for KCTD11 Gene

Genomic Locations for KCTD11 Gene
chr17:7,351,889-7,354,944
(GRCh38/hg38)
Size:
3,056 bases
Orientation:
Plus strand
chr17:7,255,208-7,258,263
(GRCh37/hg19)
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:
    • Homopentamer. Interacts with KCTD6 and KCTD21; KCTD11 and KCTD6 or KCTD21 may associate in pentameric assemblies. Component of the BCR(KCTD11) E3 ubiquitin ligase complex, at least composed of CUL3 and KCTD11 and RBX1. Interacts (via BTB domain) with CUL3; initially a 4:4 stoichiometry has been reported, however, electron microscopy revealed pentameric states of the BTB domain.
    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.
    • [Isoform 2]: Non-AUG start codon.

    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

Gene Families for KCTD11 Gene

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

Protein Domains for KCTD11 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for KCTD11 Gene

GenScript: Design optimal peptide antigens:
  • BTB/POZ domain-containing protein KCTD11 (KCD11_HUMAN)

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

Function for KCTD11 Gene

Molecular function for KCTD11 Gene

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 probable substrate-specific adapter for a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex towards HDAC1. 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.

Phenotypes From GWAS Catalog 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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KCTD11

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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
plasma membrane 1
extracellular 1
cytoskeleton 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for KCTD11 Gene

Pathways & Interactions for KCTD11 Gene

PathCards logo

SuperPathways for KCTD11 Gene

SuperPathway Contained pathways
1 Sweet Taste Signaling
.72
.72
.46
.44
.37
2 Activation of cAMP-Dependent PKA
.77
.77
.56
3 Neuropathic Pain-Signaling in Dorsal Horn Neurons
.47
.47
.40
4 Hepatic ABC Transporters
.41
.41
genes like me logo Genes that share pathways with KCTD11: view

Pathways by source for KCTD11 Gene

13 Qiagen pathways for KCTD11 Gene
  • Activation of cAMP-Dependent PKA
  • Aldosterone Signaling in Epithelial Cells
  • Bitter Taste Signaling
  • cAMP Pathway
  • Cellular Effects of Sildenafil

UniProtKB/Swiss-Prot Q693B1-KCD11_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

SIGNOR curated interactions for KCTD11 Gene

Inactivates:

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:0016567 protein ubiquitination IEA --
GO:0040008 regulation of growth IEA --
GO:0051260 protein homooligomerization IEA --
genes like me logo Genes that share ontologies with KCTD11: view

Drugs & Compounds for KCTD11 Gene

No Compound Related Data Available

Transcripts for KCTD11 Gene

mRNA/cDNA for KCTD11 Gene

2 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KCTD11

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

Expression for KCTD11 Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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

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 31 30
  • 99.57 (n)
OneToOne
dog
(Canis familiaris)
Mammalia KCTD11 30
  • 89.51 (n)
cow
(Bos Taurus)
Mammalia KCTD11 31 30
  • 88.65 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Kctd11 17 31 30
  • 85.49 (n)
rat
(Rattus norvegicus)
Mammalia Kctd11 30
  • 85.2 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 72 (a)
OneToMany
-- 31
  • 72 (a)
OneToMany
chicken
(Gallus gallus)
Aves KCTD7 31
  • 16 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for KCTD11: view image

Paralogs for KCTD11 Gene

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

  • KCD11_HUMAN
genes like me logo Genes that share paralogs with KCTD11: view

Variants for KCTD11 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KCTD11 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
rs8080182 - p.Gly22Ser

Additional dbSNP identifiers (rs#s) for KCTD11 Gene

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)

Additional Variant Information 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

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

Disorder Aliases PubMed IDs
medulloblastoma
  • mdb
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for 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. 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 (New York, N.Y.) 2011) 2 3 4 54
  2. The BTB domains of the potassium channel tetramerization domain proteins prevalently assume pentameric states. (PMID: 27152988) Smaldone G … Ciccarelli L (FEBS letters 2016) 3 4 54
  3. Cullin 3 Recognition Is Not a Universal Property among KCTD Proteins. (PMID: 25974686) Smaldone G … Vitagliano L (PloS one 2015) 3 4 54
  4. Molecular organization of the cullin E3 ligase adaptor KCTD11. (PMID: 21237243) Correale S … Pedone EM (Biochimie 2011) 3 4 54
  5. Histone deacetylase and Cullin3-REN(KCTD11) ubiquitin ligase interplay regulates Hedgehog signalling through Gli acetylation. (PMID: 20081843) Canettieri G … Gulino A (Nature cell biology 2010) 3 4 54

Products for KCTD11 Gene

Sources for KCTD11 Gene