KCTD19 (16q22.1)

https://www.ncbi.nlm.nih.gov/gene/146212

Preferred Names

BTB/POZ domain-containing protein KCTD19

Names

potassium channel tetramerisation domain containing 19

testicular tissue protein Li 101

1. NM_001100915.3 → NP_001094385.1  BTB/POZ domain-containing protein KCTD19
   See identical proteins and their annotated locations for NP_001094385.1
   
   

   Conserved Domains (1) summary

   cl02518
   Location:18 → 72

   BTB; BTB/POZ domain.The BTB (for BR-C, ttk and bab) or POZ (for Pox virus and Zinc finger) domain is present near the N-terminus of a fraction of zinc finger (pfam00096) proteins and in proteins that contain the pfam01344 motif such as Kelch and a family of pox virus proteins. The BTB/POZ domain mediates homomeric dimerisation and in some instances heteromeric dimerisation. The structure of the dimerized PLZF BTB/POZ domain has been solved and consists of a tightly intertwined homodimer. The central scaffolding of the protein is made up of a cluster of alpha-helices flanked by short beta-sheets at both the top and bottom of the molecule. POZ domains from several zinc finger proteins have been shown to mediate transcriptional repression and to interact with components of histone deacetylase co-repressor complexes including N-CoR and SMRT. The POZ or BTB domain is also known as BR-C/Ttk or ZiN.

   CDS             1..926
                     /gene="KCTD19"
                     /coded_by="NM_001100915.3:35..2815"
                     /db_xref="CCDS:CCDS42179.1"
                     /db_xref="GeneID:146212"
                     /db_xref="HGNC:HGNC:24753"
ORIGIN      
        1 meesgmahes aedlfhfnvg gwHfsvprsk lsqfpdsllw keasaltsse sqrlfidrdg
       61 stfrHvHyyl ytsklsfssc aelnllyeqa lglqlmpllq tldnlkegkh hlrvrpadlp
      121 vaeraslnyw rtwkciskps efpikspaft glhdkaplgl mdtplldtee evhycflpld
      181 lvakypslvt ednllwlaet valiececse frfivnflrs qkillpdnfs nidvleaeve
      241 ileipaltea vrwyrmnmgg cspttcspls pgkgartasl esvkplytma lgllvkypds
      301 algqlriest ldgsrlyitg ngvlfqhvkn wlgtcrlplt etisevyelc afldkrdity
      361 epikvalkth leprtlapmd vlnewtaeit vyspqqiikv yvgsHwyatt lqtllkypel
      421 lsnpqrvywi tygqtlliHg dgqmfrHiln flrlgklflp sefkewplfC qeveeyHips
      481 lsealaqCea ykswtqekes eneeafsirr lhvvtegpgs lvefsrdtke ttaympvdfe
      541 dcsdrtpwnk akgnlvrsnq mdeaeqytrp iqvslcrnak ragnpstysh crglctnpgh
      601 wgshpesppk kkcttinltq ksetkdppat pmqklislvr ewdmvnckqw efqpltatrs
      661 spleeatlql plgseaasqp stsaawkahs tasekdpgpq agagagakdk gpeptfkpyl
      721 ppkragtlkd wskqrtkere spapeqplpe asevdslgvi lkvthppvvg sdgfcmffed
      781 siiyttemdn lrhttptasp qpqevtflsf slsweemfya qkchcfladi imdsirqkdp
      841 kaitakvvsl anrlwtlhis pkqfvvdlla itgfkddrht qerlyswvel tlpfarkygr
      901 cmdlliqrgl srsvsysilg kylqed
//

Related articles in PubMed

1. Novel genetic causes for cerebral visual impairment. Bosch DG, et al. Eur J Hum Genet, 2016 May. PMID 26350515, Free PMC ArticleAbstract
   Cerebral visual impairment (CVI) is a major cause of low vision in children due to impairment in projection and/or interpretation of the visual input in the brain. Although acquired causes for CVI are well known, genetic causes underlying CVI are largely unidentified. DNAs of 25 patients with CVI and intellectual disability, but without acquired (eg, perinatal) damage, were investigated by whole-exome sequencing. The data were analyzed for de novo, autosomal-recessive, and X-linked variants, and subsequently classified into known, candidate, or unlikely to be associated with CVI. This classification was based on the Online Mendelian Inheritance in Man database, literature reports, variant characteristics, and functional relevance of the gene. After classification, variants in four genes known to be associated with CVI (AHDC1, NGLY1, NR2F1, PGAP1) in 5 patients (20%) were identified, establishing a conclusive genetic diagnosis for CVI. In addition, in 11 patients (44%) with CVI, variants in one or more candidate genes were identified (ACP6, AMOT, ARHGEF10L, ATP6V1A, DCAF6, DLG4, GABRB2, GRIN1, GRIN2B, KCNQ3, KCTD19, RERE, SLC1A1, SLC25A16, SLC35A2, SOX5, UFSP2, UHMK1, ZFP30). Our findings show that diverse genetic causes underlie CVI, some of which will provide insight into the biology underlying this disease process.

   DOI:

   10.1038/ejhg.2015.186

2. A Genome-Wide Screen for Machinery Involved in Downregulation of MHC Class I by HIV-1 Nef. Choma MK, et al. PLoS One, 2015. PMID 26466362, Free PMC ArticleAbstract
   The HIV-1-encoded protein, Nef, plays a key role in the development of AIDS. One of Nef's functions is to keep MHC class I off the surface of infected cells, a process that requires the host proteins clathrin and AP-1. To identify other proteins involved in this pathway, we carried out a genome-wide siRNA library screen on HeLa cells co-expressing HLA-A2 and an inducible form of Nef. Out of 21,121 siRNA pools, 100 were selected for further analysis, based on their ability to either inhibit or enhance downregulation of MHC-I by Nef. When cells were treated with the same siRNA pools as those used in the screen, 79% produced a similar phenotype. However, when the cells were treated with different siRNA reagents targeting the same genes, only 16% produced a similar phenotype. This indicates that most of the hits found in the original screen are likely to have been off-target, an important concern that is often not taken into account in siRNA screening studies. Nevertheless, we identified novel host factors involved in Nef-induced downregulation of MHC-I, including four genes, MIIP, CAMSAP3, SLC6A3, and KCTD19, where multiple reagents produced a strong inhibitory effect on Nef activity. Other hits slightly below our very high stringency cutoff point may also deserve further study. Thus, our dataset is a valuable resource for scientists investigating the pathogenesis of HIV.
3. A proteome-scale map of the human interactome network. Rolland T, et al. Cell, 2014 Nov 20. PMID 25416956, Free PMC Article
4. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039
5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article

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