This gene encodes a protein that belongs to a conserved family of potassium channel tetramerization domain (KCTD)-containing proteins. The encoded protein functions in ciliogenesis by acting as a substrate adaptor for the cullin3-based ubiquitin-conjugating enzyme E3 ligase, and targets trichoplein, a keratin-binding protein, for degradation via polyubiquitinylation. A mutation... See more...

Aliases for KCTD17 Gene

Aliases for KCTD17 Gene

  • Potassium Channel Tetramerization Domain Containing 17 2 3 5
  • BTB/POZ Domain-Containing Protein KCTD17 3 4
  • Potassium Channel Tetramerisation Domain Containing 17 2
  • FLJ12242 2
  • KCTD17 5

External Ids for KCTD17 Gene

Previous GeneCards Identifiers for KCTD17 Gene

  • GC22P035773
  • GC22P037447
  • GC22P020413

Summaries for KCTD17 Gene

Entrez Gene Summary for KCTD17 Gene

  • This gene encodes a protein that belongs to a conserved family of potassium channel tetramerization domain (KCTD)-containing proteins. The encoded protein functions in ciliogenesis by acting as a substrate adaptor for the cullin3-based ubiquitin-conjugating enzyme E3 ligase, and targets trichoplein, a keratin-binding protein, for degradation via polyubiquitinylation. A mutation in this gene is associated with autosomal dominant myoclonic dystonia 26. [provided by RefSeq, Nov 2016]

GeneCards Summary for KCTD17 Gene

KCTD17 (Potassium Channel Tetramerization Domain Containing 17) is a Protein Coding gene. Diseases associated with KCTD17 include Dystonia 26, Myoclonic and Dystonia 11, Myoclonic. Gene Ontology (GO) annotations related to this gene include identical protein binding. An important paralog of this gene is KCTD5.

UniProtKB/Swiss-Prot Summary for KCTD17 Gene

  • Is a positive regulator of ciliogenesis, playing a crucial role in the initial steps of axoneme extension. It acts as a substrate-adapter for CUL3-RING ubiquitin ligase complexes which mediate the ubiquitination and subsequent proteasomal degradation of TCHP, a protein involved in ciliogenesis down-regulation (PubMed:25270598). May be involved in endoplasmic reticulum calcium ion homeostasis (PubMed:25983243).

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KCTD17 Gene

Genomics for KCTD17 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for KCTD17 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 KCTD17 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KCTD17

Top Transcription factor binding sites by QIAGEN in the KCTD17 gene promoter:
  • AML1a
  • CREB
  • E2F
  • E2F-1
  • Egr-2
  • Lmo2
  • Nkx2-5
  • NRSF form 1
  • NRSF form 2
  • STAT5A

Genomic Locations for KCTD17 Gene

Genomic Locations for KCTD17 Gene
chr22:37,051,725-37,063,390
(GRCh38/hg38)
Size:
11,666 bases
Orientation:
Plus strand
chr22:37,447,779-37,459,430
(GRCh37/hg19)
Size:
11,652 bases
Orientation:
Plus strand

Genomic View for KCTD17 Gene

Genes around KCTD17 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KCTD17 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KCTD17 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KCTD17 Gene

Proteins for KCTD17 Gene

  • Protein details for KCTD17 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N5Z5-KCD17_HUMAN
    Recommended name:
    BTB/POZ domain-containing protein KCTD17
    Protein Accession:
    Q8N5Z5
    Secondary Accessions:
    • B0QYA9
    • B0QYB0
    • O95517

    Protein attributes for KCTD17 Gene

    Size:
    321 amino acids
    Molecular mass:
    35670 Da
    Quaternary structure:
    • Homopentamer; forms an closed pentamer (PubMed:28963344). Interacts with CUL3; interaction is direct and forms a 5:5 heterodecamer (PubMed:28963344). Interacts with TCHP (PubMed:25270598). Interacts with CUL3, as part of the BCR(KCTD17) E3 ubiquitin ligase complex, at least composed of CUL3, KCTD17 and RBX1 (PubMed:25270598).
    SequenceCaution:
    • Sequence=AAH25403.1; Type=Miscellaneous discrepancy; Note=The sequence differs in the N-terminus for unknown reasons.; Evidence={ECO:0000305}; Sequence=AAH31038.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for KCTD17 Gene

    Alternative splice isoforms for KCTD17 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KCTD17 Gene

Post-translational modifications for KCTD17 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for KCTD17 Gene

Domains & Families for KCTD17 Gene

Gene Families for KCTD17 Gene

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

Protein Domains for KCTD17 Gene

InterPro:
Blocks:
  • BTB/POZ domain
ProtoNet:

Suggested Antigen Peptide Sequences for KCTD17 Gene

GenScript: Design optimal peptide antigens:
  • Potassium channel tetramerisation domain containing 17 (B0QYB1_HUMAN)
  • BTB/POZ domain-containing protein KCTD17 (KCD17_HUMAN)
genes like me logo Genes that share domains with KCTD17: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for KCTD17 Gene

Function for KCTD17 Gene

Molecular function for KCTD17 Gene

UniProtKB/Swiss-Prot Function:
Is a positive regulator of ciliogenesis, playing a crucial role in the initial steps of axoneme extension. It acts as a substrate-adapter for CUL3-RING ubiquitin ligase complexes which mediate the ubiquitination and subsequent proteasomal degradation of TCHP, a protein involved in ciliogenesis down-regulation (PubMed:25270598). May be involved in endoplasmic reticulum calcium ion homeostasis (PubMed:25983243).

Phenotypes From GWAS Catalog for KCTD17 Gene

Gene Ontology (GO) - Molecular Function for KCTD17 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA,IPI 16189514
GO:0042802 identical protein binding IPI 16189514
GO:0097602 cullin family protein binding IPI 25270598
genes like me logo Genes that share ontologies with KCTD17: view
genes like me logo Genes that share phenotypes with KCTD17: view

Human Phenotype Ontology for KCTD17 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for KCTD17 Gene

miRTarBase miRNAs that target KCTD17

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KCTD17

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for KCTD17 Gene

Localization for KCTD17 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KCTD17 Gene

Cytoplasm.

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 KCTD17 gene
Compartment Confidence
nucleus 3
cytoskeleton 2
endoplasmic reticulum 2
golgi apparatus 2
plasma membrane 1
extracellular 1
cytosol 1

Gene Ontology (GO) - Cellular Components for KCTD17 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA,IDA 25983243
GO:0005783 endoplasmic reticulum IEA --
GO:0031463 Cul3-RING ubiquitin ligase complex IBA,IDA 25270598
genes like me logo Genes that share ontologies with KCTD17: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for KCTD17 Gene

Pathways & Interactions for KCTD17 Gene

PathCards logo

SuperPathways for KCTD17 Gene

No Data Available

Gene Ontology (GO) - Biological Process for KCTD17 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030030 cell projection organization IEA --
GO:0032469 endoplasmic reticulum calcium ion homeostasis IMP 25983243
GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process IMP 25270598
GO:0045724 positive regulation of cilium assembly IBA,IMP 25270598
GO:0051260 protein homooligomerization IEA --
genes like me logo Genes that share ontologies with KCTD17: view

No data available for Pathways by source and SIGNOR curated interactions for KCTD17 Gene

Drugs & Compounds for KCTD17 Gene

No Compound Related Data Available

Transcripts for KCTD17 Gene

mRNA/cDNA for KCTD17 Gene

4 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
9 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 KCTD17

Alternative Splicing Database (ASD) splice patterns (SP) for KCTD17 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9 ^ 10a · 10b
SP1: - - - - -
SP2: - - - - - -
SP3: - - -
SP4: - - - - - - -
SP5: - -
SP6:
SP7:
SP8: -

Relevant External Links for KCTD17 Gene

GeneLoc Exon Structure for
KCTD17

Expression for KCTD17 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for KCTD17 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Testis (Reproductive System)

mRNA differential expression in normal tissues according to GTEx for KCTD17 Gene

This gene is overexpressed in Brain - Putamen (basal ganglia) (x6.2) and Brain - Caudate (basal ganglia) (x4.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for KCTD17 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KCTD17

SOURCE GeneReport for Unigene cluster for KCTD17 Gene:

Hs.517597

mRNA Expression by UniProt/SwissProt for KCTD17 Gene:

Q8N5Z5-KCD17_HUMAN
Tissue specificity: Highly expressed in brain. Highest expression is observed in the putamen and the thalamus.

Evidence on tissue expression from TISSUES for KCTD17 Gene

  • Nervous system(4.6)

Phenotype-based relationships between genes and organs from Gene ORGANizer for KCTD17 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • epiglottis
  • eye
  • eyelid
  • face
  • head
  • larynx
  • neck
  • vocal cord
Thorax:
  • trachea
General:
  • skin
genes like me logo Genes that share expression patterns with KCTD17: view

No data available for Protein differential expression in normal tissues and Protein tissue co-expression partners for KCTD17 Gene

Orthologs for KCTD17 Gene

This gene was present in the common ancestor of animals.

Orthologs for KCTD17 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia KCTD17 30 31
  • 99.79 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia KCTD17 30 31
  • 94.11 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Kctd17 30
  • 91.55 (n)
Dog
(Canis familiaris)
Mammalia KCTD17 30 31
  • 90.77 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Kctd17 30 17 31
  • 88.66 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia KCTD17 31
  • 72 (a)
OneToOne
Chicken
(Gallus gallus)
Aves KCTD17 30 31
  • 82.69 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia KCTD17 31
  • 89 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii LOC568267 30
  • 71.64 (n)
KCTD17 31
  • 54 (a)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta inc 31
  • 56 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea inso-1 31
  • 38 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.8310 31
  • 59 (a)
OneToMany
Species where no ortholog for KCTD17 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • 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)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • 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)

Evolution for KCTD17 Gene

ENSEMBL:
Gene Tree for KCTD17 (if available)
TreeFam:
Gene Tree for KCTD17 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for KCTD17: view image

Paralogs for KCTD17 Gene

Paralogs for KCTD17 Gene

(7) SIMAP similar genes for KCTD17 Gene using alignment to 4 proteins:

  • KCD17_HUMAN
  • B0QYB2_HUMAN
  • H0Y731_HUMAN
  • H7C323_HUMAN
genes like me logo Genes that share paralogs with KCTD17: view

Variants for KCTD17 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KCTD17 Gene

SNP ID Clinical significance and condition Chr 22 pos Variation AA Info Type
640218 Uncertain Significance: Dystonia 26, myoclonic 37,056,320(+) G/C MISSENSE_VARIANT
645834 Uncertain Significance: Dystonia 26, myoclonic 37,059,355(+) C/A MISSENSE_VARIANT
652459 Uncertain Significance: Dystonia 26, myoclonic 37,061,596(+) G/A MISSENSE_VARIANT,THREE_PRIME_UTR_VARIANT,INTRON_VARIANT
654507 Uncertain Significance: Dystonia 26, myoclonic 37,057,498(+) G/A INTRON_VARIANT
655603 Uncertain Significance: Dystonia 26, myoclonic 37,059,437(+) A/C MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for KCTD17 Gene

Structural Variations from Database of Genomic Variants (DGV) for KCTD17 Gene

Variant ID Type Subtype PubMed ID
esv34015 CNV loss 18971310
nsv459882 CNV gain 19166990
nsv588984 CNV gain 21841781
nsv829203 CNV loss 20364138
nsv834187 CNV loss 17160897
nsv955155 CNV deletion 24416366

Variation tolerance for KCTD17 Gene

Residual Variation Intolerance Score: 66.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.75; 66.48% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KCTD17 Gene

Human Gene Mutation Database (HGMD)
KCTD17
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KCTD17

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KCTD17 Gene

Disorders for KCTD17 Gene

MalaCards: The human disease database

(4) MalaCards diseases for KCTD17 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
dystonia 26, myoclonic
  • dyt26
dystonia 11, myoclonic
  • dyt11
dystonia
  • dystonic disease
vertebral artery occlusion
  • occlusion and stenosis of vertebral artery
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

KCD17_HUMAN
  • Dystonia 26, myoclonic (DYT26) [MIM:616398]: A form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT26 is an autosomal dominant, progressive disorder characterized by a combination of non-epileptic myoclonic jerks and dystonia. Affected individuals manifest myoclonic jerks in the upper limbs during the first or second decade of life, and later develop dystonia with predominant involvement of the craniocervical regions and sometimes the trunk and/or lower limbs. {ECO:0000269 PubMed:25983243}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for KCTD17

genes like me logo Genes that share disorders with KCTD17: view

No data available for Genatlas for KCTD17 Gene

Publications for KCTD17 Gene

  1. Structural complexity in the KCTD family of Cullin3-dependent E3 ubiquitin ligases. (PMID: 28963344) Pinkas DM … Bullock AN (The Biochemical journal 2017) 3 4
  2. A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia. (PMID: 25983243) Mencacci NE … Wood NW (American journal of human genetics 2015) 3 4
  3. Ubiquitin-proteasome system controls ciliogenesis at the initial step of axoneme extension. (PMID: 25270598) Kasahara K … Inagaki M (Nature communications 2014) 3 4
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  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

Products for KCTD17 Gene

  • Signalway Proteins for KCTD17

Sources for KCTD17 Gene