KCTD18 (2q33.1) . Eräs Restless Legs syndrome (RLS) geenilocusalue . Ciliogenesis.interaktio.

https://www.ncbi.nlm.nih.gov/gene/130535

Official Symbol

KCTD18

Official Full Name

potassium channel tetramerization domain containing 18provided by HGNC

Also known as

6530404F10Rik

Expression

Ubiquitous expression in thyroid (RPKM 8.4), prostate (RPKM 6.2) and 25 other tissues See more

1. NM_001321547.2 → NP_001308476.1  BTB/POZ domain-containing protein KCTD18 isoform 1
   
   

   Conserved Domains (2) summary

   smart00225
   Location:12 → 98

   BTB; Broad-Complex, Tramtrack and Bric a brac

   cl02518
   Location:14 → 98

   BTB; BTB/POZ domain

Related articles in PubMed

1. Fine-mapping of restless legs locus 4 (RLS4) identifies a haplotype over the SPATS2L and KCTD18 genes. Pichler I, et al. J Mol Neurosci, 2013 Mar. PMID 23054586

   EFERENCE   1  (residues 1 to 426)
     AUTHORS   Pichler I, Schwienbacher C, Zanon A, Fuchsberger C, Serafin A,
               Facheris MF, Marroni F, Pattaro C, Shen Y, Tellgren-Roth C,
               Gyllensten U, Gusella JF, Hicks AA and Pramstaller PP.
     TITLE     Fine-mapping of restless legs locus 4 (RLS4) identifies a haplotype
               over the SPATS2L and KCTD18 genes
     JOURNAL   J. Mol. Neurosci. 49 (3), 600-605 (2013)
      PUBMED   23054586

    Abstract

   Restless legs syndrome (RLS) is a sleep-related movement disorder that affects up to 15 % of the population. Linkage studies have identified several genomic loci in single families (12q, 14q, 9p, 2q, 20p and 16p, respectively). However, confirmation of these loci has not always been achieved, and causative mutations have not yet been identified. The locus on chromosome 2q33 (RLS4) was identified in two South Tyrolean families who shared a haplotype of microsatellite marker alleles across an 8.2-cM region. To pinpoint the gene localisation within RLS4, additional families from the same geographic region were evaluated, and linkage was replicated in one family. Within the candidate region, we initially found a haplotype of 23 single nucleotide polymorphism markers spanning 131.6 Kb shared by all affected members of the three linked families. Using a next generation sequencing approach, we further restricted the shared candidate region to 46.9 Kb over the potassium channel-related gene KCTD18 and exons 10-13 of SPATS2L.
2. Cullin-3-KCTD10-mediated CEP97 degradation promotes primary cilium formation. Nagai T, et al. J Cell Sci, 2018 Dec 12. PMID 30404837AbstractPrimary cilia are antenna-like sensory organelles that transmit various extracellular signals. Ciliogenesis requires the removal of CP110 and its interactor CEP97 from the mother centriole for initiating ciliary axoneme extension, but the underlying mechanism remains unknown. Here we show that, upon serum starvation, CEP97 is partially degraded by the ubiquitin-proteasome system. CEP97 was polyubiquitylated in serum-starved cells, and overexpression of a non-ubiquitylatable CEP97 mutant effectively blocked CP110 removal and ciliogenesis induced by serum-starvation. Through several screening steps, we identified the cullin-3-RBX1-KCTD10 complex as the E3 ligase that mediates CEP97 degradation and removal from the mother centriole. Depletion of each component of this E3 complex caused aberrant accumulation of CEP97 on the centrosome, suppressed the removal of CEP97 and CP110 from the mother centriole, and impaired ciliogenesis. Moreover, KCTD10 was specifically localized to the mother centriole. These results suggest that CEP97 degradation by the cullin-3-RBX1-KCTD10 complex plays a crucial role in serum-starvation-induced CP110 removal and ciliogenesis.
   
3. Comparative Protein Interaction Network Analysis Identifies Shared and Distinct Functions for the Human ROCO Proteins. Tomkins JE, et al. Proteomics, 2018 May. PMID 29513927, Free PMC Article
4. Protein array based interactome analysis of amyloid-β indicates an inhibition of protein translation. Virok DP, et al. J Proteome Res, 2011 Apr 1. PMID 21244100
5. https://pubs.acs.org/doi/abs/10.1021/pr1009096 (Tämän viitteen asetan memoryMuisti-blogiin + sitaatin. koska useita Znf proteiineja joukossa. En tosin havaitse KCTD18 geeniä luettelosta. 
6. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. Hillier LW, et al. Nature, 2005 Apr 7. PMID 15815621https://www.ncbi.nlm.nih.gov/pubmed/15815621/

See all (12) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

What's a GeneRIF?
 A haplotype of 23 SNPs spanning 131.6 Kb shared by all affected members of 3 linked families with restless legs syndrome was identified. The shared candidate region covers 46.9 Kb over the potassium channel-related gene KCTD18 and exons 10-13 of SPATS2L.

 https://www.ncbi.nlm.nih.gov/protein/NP_001308476.1

ORIGIN      
        1 meghkaeeev ldvlrlnvgg ciytarresl crfkdsmlas mfsgrfplkt desgacvidr
       61 dgrlfkylld ylhgevqipt deqtrialqe eadyfgipyp yslsdhlane metyslrsni
      121 elkkaltdfc dsyglvcnkp tvwvlhylnt sgascesrii gvyatktdgt daiekqlggr
      181 ihskgifkre agnnvqyiws yysvaelkkm mdafdawegk gvsywrvphe liecwtleer
      241 pllgslrhma pirkrrlitf neadesvnyk tgpkpvrflg pststqikvk nsasvtvspa
      301 saiqtsagat anrfqsgsrr kaaqrsapsr atalvgtgap ghpqaspgaa saenggthlp
      361 pakvllsdkk ptpqrviklk rtplcatapc lpsptatrqa nslkplpgea aralgvrten
      421 gknkgn
//