LOCUS       NM_001282684            1760 bp    mRNA    linear   PRI 08-APR-2024
DEFINITION  Homo sapiens potassium channel tetramerization domain containing 17
            (KCTD17), transcript variant 1, mRNA.
ACCESSION   NM_001282684
VERSION     NM_001282684.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1760)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (bases 1 to 1760)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 1760)
  AUTHORS   Fragoza,R., Das,J., Wierbowski,S.D., Liang,J., Tran,T.N., Liang,S.,
            Beltran,J.F., Rivera-Erick,C.A., Ye,K., Wang,T.Y., Yao,L., Mort,M.,
            Stenson,P.D., Cooper,D.N., Wei,X., Keinan,A., Schimenti,J.C.,
            Clark,A.G. and Yu,H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1760)
  AUTHORS   Mencacci,N.E., Rubio-Agusti,I., Zdebik,A., Asmus,F., Ludtmann,M.H.,
            Ryten,M., Plagnol,V., Hauser,A.K., Bandres-Ciga,S., Bettencourt,C.,
            Forabosco,P., Hughes,D., Soutar,M.M., Peall,K., Morris,H.R.,
            Trabzuni,D., Tekman,M., Stanescu,H.C., Kleta,R., Carecchio,M.,
            Zorzi,G., Nardocci,N., Garavaglia,B., Lohmann,E., Weissbach,A.,
            Klein,C., Hardy,J., Pittman,A.M., Foltynie,T., Abramov,A.Y.,
            Gasser,T., Bhatia,K.P. and Wood,N.W.
  TITLE     A missense mutation in KCTD17 causes autosomal dominant
            myoclonus-dystonia
  JOURNAL   Am J Hum Genet 96 (6), 938-947 (2015)
   PUBMED   25983243
  REMARK    GeneRIF: A missense mutation in KCTD17 causes autosomal dominant
            myoclonus-dystonia.
REFERENCE   5  (bases 1 to 1760)
  AUTHORS   Kasahara,K., Kawakami,Y., Kiyono,T., Yonemura,S., Kawamura,Y.,
            Era,S., Matsuzaki,F., Goshima,N. and Inagaki,M.
  TITLE     Ubiquitin-proteasome system controls ciliogenesis at the initial
            step of axoneme extension
  JOURNAL   Nat Commun 5, 5081 (2014)
   PUBMED   25270598
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1760)
  AUTHORS   Weimann,M., Grossmann,A., Woodsmith,J., Ozkan,Z., Birth,P.,
            Meierhofer,D., Benlasfer,N., Valovka,T., Timmermann,B.,
            Wanker,E.E., Sauer,S. and Stelzl,U.
  TITLE     A Y2H-seq approach defines the human protein methyltransferase
            interactome
  JOURNAL   Nat Methods 10 (4), 339-342 (2013)
   PUBMED   23455924
REFERENCE   7  (bases 1 to 1760)
  AUTHORS   van der Harst,P., Zhang,W., Mateo Leach,I., Rendon,A., Verweij,N.,
            Sehmi,J., Paul,D.S., Elling,U., Allayee,H., Li,X.,
            Radhakrishnan,A., Tan,S.T., Voss,K., Weichenberger,C.X.,
            Albers,C.A., Al-Hussani,A., Asselbergs,F.W., Ciullo,M., Danjou,F.,
            Dina,C., Esko,T., Evans,D.M., Franke,L., Gogele,M., Hartiala,J.,
            Hersch,M., Holm,H., Hottenga,J.J., Kanoni,S., Kleber,M.E.,
            Lagou,V., Langenberg,C., Lopez,L.M., Lyytikainen,L.P., Melander,O.,
            Murgia,F., Nolte,I.M., O'Reilly,P.F., Padmanabhan,S., Parsa,A.,
            Pirastu,N., Porcu,E., Portas,L., Prokopenko,I., Ried,J.S.,
            Shin,S.Y., Tang,C.S., Teumer,A., Traglia,M., Ulivi,S., Westra,H.J.,
            Yang,J., Zhao,J.H., Anni,F., Abdellaoui,A., Attwood,A., Balkau,B.,
            Bandinelli,S., Bastardot,F., Benyamin,B., Boehm,B.O., Cookson,W.O.,
            Das,D., de Bakker,P.I., de Boer,R.A., de Geus,E.J., de Moor,M.H.,
            Dimitriou,M., Domingues,F.S., Doring,A., Engstrom,G.,
            Eyjolfsson,G.I., Ferrucci,L., Fischer,K., Galanello,R.,
            Garner,S.F., Genser,B., Gibson,Q.D., Girotto,G., Gudbjartsson,D.F.,
            Harris,S.E., Hartikainen,A.L., Hastie,C.E., Hedblad,B., Illig,T.,
            Jolley,J., Kahonen,M., Kema,I.P., Kemp,J.P., Liang,L.,
            Lloyd-Jones,H., Loos,R.J., Meacham,S., Medland,S.E., Meisinger,C.,
            Memari,Y., Mihailov,E., Miller,K., Moffatt,M.F., Nauck,M.,
            Novatchkova,M., Nutile,T., Olafsson,I., Onundarson,P.T.,
            Parracciani,D., Penninx,B.W., Perseu,L., Piga,A., Pistis,G.,
            Pouta,A., Puc,U., Raitakari,O., Ring,S.M., Robino,A., Ruggiero,D.,
            Ruokonen,A., Saint-Pierre,A., Sala,C., Salumets,A., Sambrook,J.,
            Schepers,H., Schmidt,C.O., Sillje,H.H., Sladek,R., Smit,J.H.,
            Starr,J.M., Stephens,J., Sulem,P., Tanaka,T., Thorsteinsdottir,U.,
            Tragante,V., van Gilst,W.H., van Pelt,L.J., van Veldhuisen,D.J.,
            Volker,U., Whitfield,J.B., Willemsen,G., Winkelmann,B.R.,
            Wirnsberger,G., Algra,A., Cucca,F., d'Adamo,A.P., Danesh,J.,
            Deary,I.J., Dominiczak,A.F., Elliott,P., Fortina,P., Froguel,P.,
            Gasparini,P., Greinacher,A., Hazen,S.L., Jarvelin,M.R., Khaw,K.T.,
            Lehtimaki,T., Maerz,W., Martin,N.G., Metspalu,A., Mitchell,B.D.,
            Montgomery,G.W., Moore,C., Navis,G., Pirastu,M., Pramstaller,P.P.,
            Ramirez-Solis,R., Schadt,E., Scott,J., Shuldiner,A.R., Smith,G.D.,
            Smith,J.G., Snieder,H., Sorice,R., Spector,T.D., Stefansson,K.,
            Stumvoll,M., Tang,W.H., Toniolo,D., Tonjes,A., Visscher,P.M.,
            Vollenweider,P., Wareham,N.J., Wolffenbuttel,B.H., Boomsma,D.I.,
            Beckmann,J.S., Dedoussis,G.V., Deloukas,P., Ferreira,M.A.,
            Sanna,S., Uda,M., Hicks,A.A., Penninger,J.M., Gieger,C.,
            Kooner,J.S., Ouwehand,W.H., Soranzo,N. and Chambers,J.C.
  TITLE     Seventy-five genetic loci influencing the human red blood cell
  JOURNAL   Nature 492 (7429), 369-375 (2012)
   PUBMED   23222517
REFERENCE   8  (bases 1 to 1760)
  AUTHORS   Lee,O.H., Kim,H., He,Q., Baek,H.J., Yang,D., Chen,L.Y., Liang,J.,
            Chae,H.K., Safari,A., Liu,D. and Songyang,Z.
  TITLE     Genome-wide YFP fluorescence complementation screen identifies new
            regulators for telomere signaling in human cells
  JOURNAL   Mol Cell Proteomics 10 (2), M110.001628 (2011)
   PUBMED   21044950
REFERENCE   9  (bases 1 to 1760)
  AUTHORS   Dunham,I., Shimizu,N., Roe,B.A., Chissoe,S., Hunt,A.R.,
            Collins,J.E., Bruskiewich,R., Beare,D.M., Clamp,M., Smink,L.J.,
            Ainscough,R., Almeida,J.P., Babbage,A., Bagguley,C., Bailey,J.,
            Barlow,K., Bates,K.N., Beasley,O., Bird,C.P., Blakey,S.,
            Bridgeman,A.M., Buck,D., Burgess,J., Burrill,W.D., O'Brien,K.P. et
            al.
  TITLE     The DNA sequence of human chromosome 22
  JOURNAL   Nature 402 (6761), 489-495 (1999)
   PUBMED   10591208
  REMARK    Erratum:[Nature 2000 Apr 20;404(6780):904]
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL022314.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Mar 18, 2021 this sequence version replaced NM_001282684.1.
            
            Summary: 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].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC031038.1, SRR14038194.1351992.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000403888.8/ ENSP00000385096.4
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-208               AL022314.1         4422-4629
            209-317             AL022314.1         5780-5888
            318-409             AL022314.1         9000-9091
            410-505             AL022314.1         10078-10173
            506-631             AL022314.1         11993-12118
            632-731             AL022314.1         13503-13602
            732-803             AL022314.1         13784-13855
            804-894             AL022314.1         14219-14309
            895-1760            AL022314.1         15205-16070
FEATURES             Location/Qualifiers
     source          1..1760
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q12.3"
     gene            1..1760
                     /gene="KCTD17"
                     /note="potassium channel tetramerization domain containing
                     17"
                     /db_xref="GeneID:79734"
                     /db_xref="HGNC:HGNC:25705"
                     /db_xref="MIM:616386"
     exon            1..208
                     /gene="KCTD17"
                     /inference="alignment:Splign:2.1.0"
     CDS             20..964
                     /gene="KCTD17"
                     /note="isoform 1 is encoded by transcript variant 1;
                     BTB/POZ domain-containing protein KCTD17"
                     /codon_start=1
                     /product="BTB/POZ domain-containing protein KCTD17 isoform
                     1"
                     /protein_id="NP_001269613.2"
                     /db_xref="CCDS:CCDS74854.2"
                     /db_xref="GeneID:79734"
                     /db_xref="HGNC:HGNC:25705"
                     /db_xref="MIM:616386"
                     /translation="MRMEAGEAAPPAGAGGRAAGGWGKWVRLNVGGTVFLTTRQTLCR
                     EQKSFLSRLCQGEELQSDRDETGAYLIDRDPTYFGPILNFLRHGKLVLDKDMAEEGVL
                     EEAEFYNIGPLIRIIKDRMEEKDYTVTQVPPKHVYRVLQCQEEELTQMVSTMSDGWRF
                     EQLVNIGSSYNYGSEDQAEFLCVVSKELHSTPNGLSSESSRKTKSTEEQLEEQQQQEE
                     EVEEVEVEQVQVEADAQEKAQSSQDPANLFSLPPLPPPPLPAGGSRPHPLRPEAELAV
                     RASPRPLARPQSCHPCCYKPEAPGCEAPDHLQGLGVPI"
     exon            209..317
                     /gene="KCTD17"
                     /inference="alignment:Splign:2.1.0"
     exon            318..409
                     /gene="KCTD17"
                     /inference="alignment:Splign:2.1.0"
     exon            410..505
                     /gene="KCTD17"
                     /inference="alignment:Splign:2.1.0"
     exon            506..631
                     /gene="KCTD17"
                     /inference="alignment:Splign:2.1.0"
     exon            632..731
                     /gene="KCTD17"
                     /inference="alignment:Splign:2.1.0"
     exon            732..803
                     /gene="KCTD17"
                     /inference="alignment:Splign:2.1.0"
     exon            804..894
                     /gene="KCTD17"
                     /inference="alignment:Splign:2.1.0"
     exon            895..1760
                     /gene="KCTD17"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1737..1742
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KCTD17"
                     /note="hexamer: AATAAA"
     polyA_site      1760
                     /gene="KCTD17"
                     /note="major polyA site"
ORIGIN      
        1 gcagacgccg cggccggcga tgaggatgga ggccggggag gcagcgccgc cggcgggggc
       61 gggcggccgc gccgcaggcg gctggggcaa gtgggtgcgg ctcaacgtgg ggggcacggt
      121 gttcctgacc acccggcaga cgctgtgccg cgagcagaag tccttcctca gccgcctgtg
      181 ccagggggaa gagctgcagt cggaccggga tgagaccggg gcctacctca ttgaccgtga
      241 ccccacctac ttcgggccca tcctgaactt cctccggcat ggcaagctgg tgctggacaa
      301 ggacatggct gaggaggggg tcctggagga agccgagttc tacaacatcg gcccgctgat
      361 ccgcatcatc aaagaccgga tggaagagaa ggactacacg gtcacccagg tcccacccaa
      421 gcacgtgtac cgcgtgctgc agtgccagga ggaggagctc acgcaaatgg tctccaccat
      481 gtctgatggc tggcgcttcg agcagctggt gaacatcggc tcctcctaca actacggcag
      541 cgaggaccag gcagagttcc tgtgtgtggt gtccaaggag ctccacagca ccccaaacgg
      601 gctgagctca gagtccagcc gcaaaaccaa gagcacggag gagcagctgg aggagcagca
      661 gcagcaggag gaggaggtgg aggaggtgga ggtggaacag gtgcaggtgg aggcagatgc
      721 acaggagaaa gcccagtcat ctcaggatcc cgctaacctt ttctccctcc caccactgcc
      781 tcctcctccg cttcccgctg gaggttcccg tccgcaccct ctcagacctg aggctgagct
      841 tgcagtgagg gcttctcctc ggcccctcgc ccgcccccag agctgccatc cctgctgtta
      901 caagccagag gcacccggat gtgaggcccc agatcacctc cagggacttg gggttcccat
      961 ctgaaatcct ttatttttgt accatggggt gggccccggg cctgagaagg aagaagcacc
     1021 ctctccccgg cctcctctgt ctgcacccgt ggggctgtga cttactcctg cctccagggg
     1081 cggggcgggg cccccctggg acctcttaag gcccaaggtg ggccccagga cctctgggca
     1141 gagtggactg ctcatggcag atgtgtggca atgtctggct gtgtctctcc ggcacctgcg
     1201 tcccctctcc cgggctcccc tgctgcatgg tggatgtgct ccttcctggc ccggtcacat
     1261 tgcctccttg agccttagtc cagggggtca ctcctcccac cccacctacc tcacagggtt
     1321 gttgtgaggg tgcacagagg agcaaagtcc ctgaaggccc tcaggcagta tataggggcc
     1381 gcccaccttc agctgccctg ggatgggaag gacccagccc gacccctggg cataacactg
     1441 tgtttgcaaa tggagattca ggtattgggg atgcaggttg tggggagctg gcctggcaga
     1501 gtaggggtag ttggcttggc cttctctttg gtgatcccac ccccagccat ttgcattgct
     1561 ggcccagcgc ctggcctggg gggcggggag aggcagcaga aggggctggg caggggcggt
     1621 ggaggactca ggaactgccc ggggagagtg ggtatggcgg ctgagccagg ggccctcctg
     1681 tgtttgactt cccgggatgg gtccttgctt ctcagctgtg tccgacccca ccatgtaata
     1741 aaacccaaag gaacagccca
//
