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Aliases for KCTD17 Gene

Aliases for KCTD17 Gene

  • Potassium Channel Tetramerization Domain Containing 17 2 3 5
  • Potassium Channel Tetramerisation Domain Containing 17 2

External Ids for KCTD17 Gene

Previous GeneCards Identifiers for KCTD17 Gene

  • GC22P035773
  • GC22P037447
  • GC22P020413

Summaries for KCTD17 Gene

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. GO annotations related to this gene include identical protein binding. An important paralog of this gene is KCTD5.

UniProtKB/Swiss-Prot 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 Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KCTD17 Gene

Genomics for KCTD17 Gene

Regulatory Elements for KCTD17 Gene

Enhancers for KCTD17 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around KCTD17 on UCSC Golden Path with GeneCards custom track

Promoters for KCTD17 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around KCTD17 on UCSC Golden Path with GeneCards custom track

Genomic Location for KCTD17 Gene

Chromosome:
22
Start:
37,051,725 bp from pter
End:
37,063,390 bp from pter
Size:
11,666 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:
    • Interacts with TCHP. Interacts with CUL3, as part of the BCR(KCTD17) E3 ubiquitin ligase complex, at least composed of CUL3, KCTD17 and RBX1.
    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

Proteomics data for KCTD17 Gene at MOPED

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

Protein Domains for KCTD17 Gene

Suggested Antigen Peptide Sequences for KCTD17 Gene

Graphical View of Domain Structure for InterPro Entry

Q8N5Z5

UniProtKB/Swiss-Prot:

KCD17_HUMAN :
  • Contains 1 BTB (POZ) domain.
Domain:
  • Contains 1 BTB (POZ) domain.
genes like me logo Genes that share domains with KCTD17: view

No data available for Gene Families 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).

Gene Ontology (GO) - Molecular Function for KCTD17 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16189514
genes like me logo Genes that share ontologies with KCTD17: view

Phenotypes for KCTD17 Gene

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

miRNA for KCTD17 Gene

miRTarBase miRNAs that target 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
Jensen Localization Image for KCTD17 Gene COMPARTMENTS Subcellular localization image for KCTD17 gene
Compartment Confidence
nucleus 4
endoplasmic reticulum 3
cytoskeleton 2
cytosol 2
extracellular 2
golgi apparatus 2

No data available for Gene Ontology (GO) - Cellular Components for KCTD17 Gene

Pathways & Interactions for KCTD17 Gene

SuperPathways for KCTD17 Gene

No Data Available

Gene Ontology (GO) - Biological Process for KCTD17 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0032469 endoplasmic reticulum calcium ion homeostasis IMP 25983243
GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process 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

Unigene Clusters for KCTD17 Gene

Potassium channel tetramerisation domain containing 17:
Representative Sequences:

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
ECgene alternative splicing isoforms for
KCTD17

Expression for KCTD17 Gene

mRNA expression in normal human tissues for KCTD17 Gene

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, PaxDb, MOPED, and MaxQB for KCTD17 Gene



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.
genes like me logo Genes that share expression patterns with KCTD17: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , 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
cow
(Bos Taurus)
Mammalia KCTD17 35
  • 94.11 (n)
  • 98.34 (a)
KCTD17 36
  • 84 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KCTD17 35
  • 90.77 (n)
  • 90.96 (a)
KCTD17 36
  • 79 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Kctd17 35
  • 88.66 (n)
  • 91.5 (a)
Kctd17 16
Kctd17 36
  • 80 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia KCTD17 35
  • 99.79 (n)
  • 100 (a)
KCTD17 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Kctd17 35
  • 91.55 (n)
  • 97.18 (a)
oppossum
(Monodelphis domestica)
Mammalia KCTD17 36
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves KCTD17 35
  • 82.69 (n)
  • 93.92 (a)
KCTD17 36
  • 76 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KCTD17 36
  • 89 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii LOC568267 35
  • 71.64 (n)
  • 79.56 (a)
KCTD17 36
  • 54 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta inc 36
  • 56 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea inso-1 36
  • 38 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8310 36
  • 59 (a)
OneToMany
Species with no ortholog for KCTD17:
  • 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)
  • 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 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)

Paralogs for KCTD17 Gene

Paralogs for KCTD17 Gene

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

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

Variants for KCTD17 Gene

Sequence variations from dbSNP and Humsavar for KCTD17 Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type
rs17852877 - 37,051,890(+) TGTGC(C/G)GCGAG nc-transcript-variant, reference, missense
VAR_073806 Dystonia 26, myoclonic (DYT26)
rs2142825 -- 37,058,209(+) CACAC(A/G)TTCCC intron-variant
rs2235320 -- 37,057,216(+) TGCCT(G/T)GTAAA intron-variant
rs7287458 -- 37,054,411(+) CTAGG(A/G)GATCA intron-variant

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

Variant ID Type Subtype PubMed ID
nsv834187 CNV Loss 17160897
esv34015 CNV Loss 18971310
nsv459882 CNV Gain 19166990
nsv829203 CNV Loss 20364138
dgv4960n71 CNV Loss 21882294
nsv915015 CNV Loss 21882294

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)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for KCTD17 Gene

Disorders for KCTD17 Gene

MalaCards: The human disease database

(2) MalaCards diseases for KCTD17 Gene - From: OMIM, ClinVar, GeneTests, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
dystonia 26, myoclonic
  • dyt26
dystonia
  • dystonic disease
- 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.

Relevant External Links for KCTD17

Genetic Association Database (GAD)
KCTD17
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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. A missense mutation in KCTD17 causes autosomal dominant myoclonus- dystonia. (PMID: 25983243) Mencacci N.E. … Wood N.W. (Am. J. Hum. Genet. 2015) 3 4 67
  2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 2 3
  3. Structural Insights into KCTD Protein Assembly and Cullin3 Recognition. (PMID: 26334369) Ji A.X. … PrivAc G.G. (J. Mol. Biol. 2016) 3
  4. Substrate trapping proteomics reveals targets of the I^TrCP2/FBXW11 ubiquitin ligase. (PMID: 25332235) Kim T.Y. … Major M.B. (Mol. Cell. Biol. 2015) 3
  5. Phospho-tyrosine dependent protein-protein interaction network. (PMID: 25814554) Grossmann A. … Stelzl U. (Mol. Syst. Biol. 2015) 3

Products for KCTD17 Gene

Sources for KCTD17 Gene

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