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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

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. 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 CIViC 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 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
GH22G037014 1.6 Ensembl ENCODE dbSUPER 12.7 -31.1 -31052 12.5 HDGF PKNOX1 ARNT CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766 MPST KCTD17 ANKRD54 ENSG00000231467 TMPRSS6 NCF4-AS1 NCF4 IL2RB ENSG00000229971 TST
GH22G037027 0.6 dbSUPER 12.7 -24.0 -24005 1.1 SCRT1 GLIS1 SCRT2 ZMYM3 NR2F6 ZBTB17 KCTD17 ENSG00000231467 TMPRSS6 NCF4-AS1 NCF4 IL2RB ENSG00000229971 TEX33 TST
GH22G037543 1.9 FANTOM5 Ensembl ENCODE dbSUPER 3.3 +495.4 495381 6.4 HDGF FOXA2 MLX ARID4B DMAP1 FEZF1 YY1 ZNF143 SP3 SP5 LGALS2 C1QTNF6 KCTD17 CDC42EP1 LGALS1 CARD10 TRIOBP MICALL1 ANKRD54 POLR2F
GH22G037030 1.9 FANTOM5 Ensembl ENCODE dbSUPER 0.4 -18.2 -18163 5.4 FOXA2 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 SLC30A9 TMPRSS6 MPST TEX33 ENSG00000231467 NCF4-AS1 NCF4 IL2RB ENSG00000229971 TST CARD10
GH22G037051 0.9 ENCODE 0.7 +0.6 641 2.5 PKNOX1 ZNF76 SIN3A NFXL1 ETS1 ZNF121 GLIS2 EGR1 ZNF143 THAP11 ENSG00000231467 TMPRSS6 ENSG00000235237 IL2RB ENSG00000229971 GC22M037056 KCTD17 RN7SKP214
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000145932 75 801 ZNF76 SIN3A ZNF121 GLIS2 EGR1 ZNF143 THAP11 SP3 HCFC1 GATAD2B

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

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

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

No data available for Gene Families 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).

Gene Ontology (GO) - Molecular Function for KCTD17 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16189514
GO:0032403 protein complex binding IBA --
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

Flow Cytometry Products

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 4
extracellular 2
cytoskeleton 2
endoplasmic reticulum 2
cytosol 2
golgi apparatus 2

Gene Ontology (GO) - Cellular Components for KCTD17 Gene

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

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: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 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

Transcripts for KCTD17 Gene

Unigene Clusters for KCTD17 Gene

Potassium channel tetramerisation domain containing 17:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for KCTD17 Gene



NURSA nuclear receptor signaling pathways regulating expression of KCTD17 Gene:

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
Organs:
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

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
chimpanzee
(Pan troglodytes)
Mammalia KCTD17 34 35
  • 99.79 (n)
cow
(Bos Taurus)
Mammalia KCTD17 34 35
  • 94.11 (n)
rat
(Rattus norvegicus)
Mammalia Kctd17 34
  • 91.55 (n)
dog
(Canis familiaris)
Mammalia KCTD17 34 35
  • 90.77 (n)
mouse
(Mus musculus)
Mammalia Kctd17 34 16 35
  • 88.66 (n)
oppossum
(Monodelphis domestica)
Mammalia KCTD17 35
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves KCTD17 34 35
  • 82.69 (n)
lizard
(Anolis carolinensis)
Reptilia KCTD17 35
  • 89 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii LOC568267 34
  • 71.64 (n)
KCTD17 35
  • 54 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta inc 35
  • 56 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea inso-1 35
  • 38 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8310 35
  • 59 (a)
OneToMany
Species where no ortholog for KCTD17 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)
  • 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
rs786205860 Pathogenic, Dystonia 26, myoclonic (DYT26) [MIM:616398] 37,057,420(+) GTACC(A/G)CGTGC nc-transcript-variant, reference, missense
rs1000002552 -- 37,062,421(+) CCCCC(A/C)CCCGT intron-variant, utr-variant-3-prime
rs1000054833 -- 37,055,060(+) CGTTG(C/T)GTCCT intron-variant
rs1000260033 -- 37,052,570(+) CATCC(A/G)TGACC intron-variant
rs1000360347 -- 37,054,532(+) GGATA(C/T)ACAGG intron-variant

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)

Relevant External Links for KCTD17 Gene

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

(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 64
  2. Ubiquitin-proteasome system controls ciliogenesis at the initial step of axoneme extension. (PMID: 25270598) Kasahara K. … Inagaki M. (Nat. Commun. 2014) 3 4 64
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  4. 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
  5. 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 64

Products for KCTD17 Gene

Sources for KCTD17 Gene

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