LOCUS       NM_001129994            3909 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens potassium channel tetramerization domain containing 15
            (KCTD15), transcript variant 2, mRNA.
ACCESSION   NM_001129994
VERSION     NM_001129994.2
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 3909)
  AUTHORS   Miller,K.A., Cruz Walma,D.A., Pinkas,D.M., Tooze,R.S., Bufton,J.C.,
            Richardson,W., Manning,C.E., Hunt,A.E., Cros,J., Hartill,V.,
            Parker,M.J., McGowan,S.J., Twigg,S.R.F., Chalk,R., Staunton,D.,
            Johnson,D., Wilkie,A.O.M. and Bullock,A.N.
  TITLE     BTB domain mutations perturbing KCTD15 oligomerisation cause a
            distinctive frontonasal dysplasia syndrome
  JOURNAL   J Med Genet 61 (5), 490-501 (2024)
   PUBMED   38296633
  REMARK    GeneRIF: BTB domain mutations perturbing KCTD15 oligomerisation
            cause a distinctive frontonasal dysplasia syndrome.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3909)
  AUTHORS   Raymundo,J.R., Zhang,H., Smaldone,G., Zhu,W., Daly,K.E.,
            Glennon,B.J., Pecoraro,G., Salvatore,M., Devine,W.A., Lo,C.W.,
            Vitagliano,L. and Marneros,A.G.
  TITLE     KCTD1/KCTD15 complexes control ectodermal and neural crest cell
            functions, and their impairment causes aplasia cutis
  JOURNAL   J Clin Invest 134 (4), e174138 (2023)
   PUBMED   38113115
  REMARK    GeneRIF: KCTD1/KCTD15 complexes control ectodermal and neural crest
            cell functions, and their impairment causes aplasia cutis.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3909)
  AUTHORS   Smaldone,G., Coppola,L., Pane,K., Franzese,M., Beneduce,G.,
            Parasole,R., Menna,G., Vitagliano,L., Salvatore,M. and Mirabelli,P.
  TITLE     KCTD15 deregulation is associated with alterations of the NF-kappaB
            signaling in both pathological and physiological model systems
  JOURNAL   Sci Rep 11 (1), 18237 (2021)
   PUBMED   34521919
  REMARK    GeneRIF: KCTD15 deregulation is associated with alterations of the
            NF-kappaB signaling in both pathological and physiological model
            systems.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3909)
  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   5  (bases 1 to 3909)
  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   6  (bases 1 to 3909)
  AUTHORS   Bauer,F., Elbers,C.C., Adan,R.A., Loos,R.J., Onland-Moret,N.C.,
            Grobbee,D.E., van Vliet-Ostaptchouk,J.V., Wijmenga,C. and van der
            Schouw,Y.T.
  TITLE     Obesity genes identified in genome-wide association studies are
            associated with adiposity measures and potentially with
            nutrient-specific food preference
  JOURNAL   Am J Clin Nutr 90 (4), 951-959 (2009)
   PUBMED   19692490
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (bases 1 to 3909)
  AUTHORS   Renstrom,F., Payne,F., Nordstrom,A., Brito,E.C., Rolandsson,O.,
            Hallmans,G., Barroso,I., Nordstrom,P. and Franks,P.W.
  CONSRTM   GIANT Consortium
  TITLE     Replication and extension of genome-wide association study results
            for obesity in 4923 adults from northern Sweden
  JOURNAL   Hum Mol Genet 18 (8), 1489-1496 (2009)
   PUBMED   19164386
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   8  (bases 1 to 3909)
  AUTHORS   Willer,C.J., Speliotes,E.K., Loos,R.J., Li,S., Lindgren,C.M.,
            Heid,I.M., Berndt,S.I., Elliott,A.L., Jackson,A.U., Lamina,C.,
            Lettre,G., Lim,N., Lyon,H.N., McCarroll,S.A., Papadakis,K., Qi,L.,
            Randall,J.C., Roccasecca,R.M., Sanna,S., Scheet,P., Weedon,M.N.,
            Wheeler,E., Zhao,J.H., Jacobs,L.C., Prokopenko,I., Soranzo,N.,
            Tanaka,T., Timpson,N.J., Almgren,P., Bennett,A., Bergman,R.N.,
            Bingham,S.A., Bonnycastle,L.L., Brown,M., Burtt,N.P., Chines,P.,
            Coin,L., Collins,F.S., Connell,J.M., Cooper,C., Smith,G.D.,
            Dennison,E.M., Deodhar,P., Elliott,P., Erdos,M.R., Estrada,K.,
            Evans,D.M., Gianniny,L., Gieger,C., Gillson,C.J., Guiducci,C.,
            Hackett,R., Hadley,D., Hall,A.S., Havulinna,A.S., Hebebrand,J.,
            Hofman,A., Isomaa,B., Jacobs,K.B., Johnson,T., Jousilahti,P.,
            Jovanovic,Z., Khaw,K.T., Kraft,P., Kuokkanen,M., Kuusisto,J.,
            Laitinen,J., Lakatta,E.G., Luan,J., Luben,R.N., Mangino,M.,
            McArdle,W.L., Meitinger,T., Mulas,A., Munroe,P.B., Narisu,N.,
            Ness,A.R., Northstone,K., O'Rahilly,S., Purmann,C., Rees,M.G.,
            Ridderstrale,M., Ring,S.M., Rivadeneira,F., Ruokonen,A.,
            Sandhu,M.S., Saramies,J., Scott,L.J., Scuteri,A., Silander,K.,
            Sims,M.A., Song,K., Stephens,J., Stevens,S., Stringham,H.M.,
            Tung,Y.C., Valle,T.T., Van Duijn,C.M., Vimaleswaran,K.S.,
            Vollenweider,P., Waeber,G., Wallace,C., Watanabe,R.M.,
            Waterworth,D.M., Watkins,N., Witteman,J.C., Zeggini,E., Zhai,G.,
            Zillikens,M.C., Altshuler,D., Caulfield,M.J., Chanock,S.J.,
            Farooqi,I.S., Ferrucci,L., Guralnik,J.M., Hattersley,A.T., Hu,F.B.,
            Jarvelin,M.R., Laakso,M., Mooser,V., Ong,K.K., Ouwehand,W.H.,
            Salomaa,V., Samani,N.J., Spector,T.D., Tuomi,T., Tuomilehto,J.,
            Uda,M., Uitterlinden,A.G., Wareham,N.J., Deloukas,P.,
            Frayling,T.M., Groop,L.C., Hayes,R.B., Hunter,D.J., Mohlke,K.L.,
            Peltonen,L., Schlessinger,D., Strachan,D.P., Wichmann,H.E.,
            McCarthy,M.I., Boehnke,M., Barroso,I., Abecasis,G.R. and
            Hirschhorn,J.N.
  CONSRTM   Wellcome Trust Case Control Consortium; Genetic Investigation of
            ANthropometric Traits Consortium
  TITLE     Six new loci associated with body mass index highlight a neuronal
            influence on body weight regulation
  JOURNAL   Nat Genet 41 (1), 25-34 (2009)
   PUBMED   19079261
  REMARK    GeneRIF: Observational study, meta-analysis, and genome-wide
            association study of gene-disease association. (HuGE Navigator)
REFERENCE   9  (bases 1 to 3909)
  AUTHORS   Thorleifsson,G., Walters,G.B., Gudbjartsson,D.F.,
            Steinthorsdottir,V., Sulem,P., Helgadottir,A., Styrkarsdottir,U.,
            Gretarsdottir,S., Thorlacius,S., Jonsdottir,I., Jonsdottir,T.,
            Olafsdottir,E.J., Olafsdottir,G.H., Jonsson,T., Jonsson,F.,
            Borch-Johnsen,K., Hansen,T., Andersen,G., Jorgensen,T.,
            Lauritzen,T., Aben,K.K., Verbeek,A.L., Roeleveld,N., Kampman,E.,
            Yanek,L.R., Becker,L.C., Tryggvadottir,L., Rafnar,T., Becker,D.M.,
            Gulcher,J., Kiemeney,L.A., Pedersen,O., Kong,A.,
            Thorsteinsdottir,U. and Stefansson,K.
  TITLE     Genome-wide association yields new sequence variants at seven loci
            that associate with measures of obesity
  JOURNAL   Nat Genet 41 (1), 18-24 (2009)
   PUBMED   19079260
REFERENCE   10 (bases 1 to 3909)
  AUTHORS   Ballif,B.A., Villen,J., Beausoleil,S.A., Schwartz,D. and Gygi,S.P.
  TITLE     Phosphoproteomic analysis of the developing mouse brain
  JOURNAL   Mol Cell Proteomics 3 (11), 1093-1101 (2004)
   PUBMED   15345747
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BP339379.1, AK027901.1, AK225793.1, AK025590.1, CX752088.1 and
            AI741557.1.
            
            On Jun 2, 2019 this sequence version replaced NM_001129994.1.
            
            Transcript Variant: This variant (2) uses a different splice site
            in the 3' coding region, compared to variant 1, that results in a
            frameshift. The resulting protein (isoform 2) has a longer and
            distinct C-terminus compared to isoform 1. Variants 2 and 3 both
            encode the same protein.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803615.41157.1,
                                           SRR1660803.131822.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000683859.1/ ENSP00000508199.1
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-118               BP339379.1         25-142
            119-1507            AK027901.1         136-1524
            1508-2391           AK225793.1         1497-2380
            2392-3332           AK025590.1         1100-2040
            3333-3852           CX752088.1         56-575              c
            3853-3909           AI741557.1         13-69               c
FEATURES             Location/Qualifiers
     source          1..3909
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.11"
     gene            1..3909
                     /gene="KCTD15"
                     /note="potassium channel tetramerization domain containing
                     15"
                     /db_xref="GeneID:79047"
                     /db_xref="HGNC:HGNC:23297"
                     /db_xref="MIM:615240"
     exon            1..118
                     /gene="KCTD15"
                     /inference="alignment:Splign:2.1.0"
     exon            119..217
                     /gene="KCTD15"
                     /inference="alignment:Splign:2.1.0"
     exon            218..310
                     /gene="KCTD15"
                     /inference="alignment:Splign:2.1.0"
     CDS             245..1096
                     /gene="KCTD15"
                     /note="isoform 2 is encoded by transcript variant 2;
                     BTB/POZ domain-containing protein KCTD15; potassium
                     channel tetramerisation domain containing 15; potassium
                     channel tetramerization domain-containing protein 15"
                     /codon_start=1
                     /product="BTB/POZ domain-containing protein KCTD15 isoform
                     2"
                     /protein_id="NP_001123466.1"
                     /db_xref="CCDS:CCDS46039.1"
                     /db_xref="GeneID:79047"
                     /db_xref="HGNC:HGNC:23297"
                     /db_xref="MIM:615240"
                     /translation="MPHRKERPSGSSLHTHGSTGTAEGGNMSRLSLTRSPVSPLAAQG
                     IPLPAQLTKSNAPVHIDVGGHMYTSSLATLTKYPDSRISRLFNGTEPIVLDSLKQHYF
                     IDRDGEIFRYVLSFLRTSKLLLPDDFKDFSLLYEEARYYQLQPMVRELERWQQEQEQR
                     RRSRACDCLVVRVTPDLGERIALSGEKALIEEVFPETGDVMCNSVNAGWNQDPTHVIR
                     FPLNGYCRLNSVQVLERLFQRGFSVAASCGGGVDSSQFSEYVLCREERRPQPTPTAVR
                     IKQEPLD"
     exon            311..486
                     /gene="KCTD15"
                     /inference="alignment:Splign:2.1.0"
     exon            487..631
                     /gene="KCTD15"
                     /inference="alignment:Splign:2.1.0"
     exon            632..937
                     /gene="KCTD15"
                     /inference="alignment:Splign:2.1.0"
     exon            938..3909
                     /gene="KCTD15"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3887..3892
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KCTD15"
                     /note="hexamer: AATAAA"
     polyA_site      3909
                     /gene="KCTD15"
                     /note="major polyA site"
ORIGIN      
        1 aggacgagac cggagcgacc cgcgcagcga gcataggcgg cgaagctgcg cccggcgccc
       61 gagaccggca gctgcgtggg gcgggggctg cgcccgagcc cgatctgccg gctccgagca
      121 gtggtctcgg aaagagggtc gtggtcccgc acggatgcgc ttgttgggag aaaccttgga
      181 gattcacggc aaggcgtaaa gcctggggct tccaacgata ctctgggcag ggatggaagc
      241 ctagatgcct caccgcaagg agcggccgag cgggtcctcg cttcacacac acggcagcac
      301 cggcaccgcg gagggaggaa acatgtcccg gctgtctctc acccggtcgc ctgtgtctcc
      361 cctggctgcc cagggcatcc ccctgccagc ccagctcacc aagtccaatg cacctgtgca
      421 catcgatgtg ggcggccaca tgtacaccag cagcctggcc acgctcacca agtaccctga
      481 ctccaggata agccgcctct tcaatggcac tgaacccatc gtcctggaca gtttgaagca
      541 acattatttc attgaccggg atggggagat tttccgctac gtcctgagct tcctgcggac
      601 gtccaagctg ctgcttccgg atgactttaa ggacttcagt ctgctgtacg aggaggcgcg
      661 ctactatcag ctccagccca tggtgcgcga gctggagcgc tggcagcagg agcaggagca
      721 gcggcgccgc agccgggcct gtgactgcct ggtggtgcgc gtcacgcccg acttgggcga
      781 gcggatcgca ctcagcggcg agaaggccct catcgaggag gtcttccccg agaccggaga
      841 cgtcatgtgc aactccgtca acgccggctg gaaccaggac cccacgcacg tcatccgctt
      901 cccgctcaat ggctactgcc ggctcaactc ggtacaggtc ctggagcggc tgttccagag
      961 gggtttcagc gtggctgcgt cctgtggggg cggtgtggac tcctcccagt tcagcgagta
     1021 tgtgctttgc cgggaggagc ggcggccgca gcccaccccc actgctgttc gaatcaagca
     1081 ggaacccctg gactaggccc tgcttcagtg cccacctggg cccccccagg gacctggaaa
     1141 cagtgctggg gagttctgcc tgtgtatact tggccgtggg catgagaccg agggtgaggc
     1201 tggagggtcc aaagctggcc cagcgagcac cagggtccca ggtgtcatgg caacagaacg
     1261 tgggatgctg gaggcatgcc tgcagaagga ctgttgatgc gacccaaaga tacagcggtg
     1321 ggatctctgc tgccagctct cccagcccct cagcttcgca gcctggcgca gcatcctctg
     1381 aggccccggg gcctgttggg gcggggttgg aagagccgtc tgcagctact tcagaggagc
     1441 tgtttatccc tctccacgcg gggcagactc tggcgggtct cctagcgtcc gagagatggc
     1501 ttattttcta cagtatttaa aatggatgca gccctaactg caaaagtcag agaggctgac
     1561 aaggaccaat gcttctttat ctggtgctca gttctcagtc agacgtgcag catggctgca
     1621 gggtggacca gctgcctggc attcaggccc agatgcctgc agggctgggg ctctcgggac
     1681 agatgcaggg atgtgtgctg cagggctgct gggaggagag tggtgggggc ctgagggctg
     1741 agtgattctg taaccacctg agaccttcac gtttgctgcc gttgggggct caggctgcac
     1801 tccccgggtc acctgacctg ctgcccaggg gcttccagtc ctgtctgtgt ggactggcac
     1861 ctgggctgct ggagaagtct cctcccgttc ggaccagcct cagggctgca cgttacctca
     1921 ggaatgggcc ccaccatgaa ggggcccatc tgtcagcagc gtcttctagg tccccagctc
     1981 agggagccat ccccagctcc agttttctca tgcgaatatg cacagtttta attcacgttg
     2041 ttacactagc ctgccgatga gacccagaca caggcagacc tggcgctctt gacccctgat
     2101 tccagtgagg actggccctg aggagtcctt gcagacctgc tgcctccccc acgacaggcc
     2161 caaagatgga ccccccctgg ccttgtgaca gctccccaag tgttctccgg tggagaaact
     2221 gcagaggact ggtgggcggg gctccccagc catcaccatc ctgtgtacaa tggctgtaga
     2281 cttgtatatg gctcctttaa tattgtaaag atgctgatgt acaattgtcg tgcatttgtg
     2341 tgaacacatt gcgttcccag tccatgccat aaatgatgct ctcaagcaaa agactggagg
     2401 ctctgtcctg tgcagaagca gcagccagac tcccgcattc gatgttgtgc agggaggttt
     2461 gggggcggaa cggattcctc ccttggatcc ttcagttccc atcgaggaat aacccgcagc
     2521 agtggtggag gaaggtcagt ggctgggtcc tgagcttggt gttatttatt gcatttgggt
     2581 gcctgtcccc tcagggcagc acagattctg aattctgatt cacagtccct agccagatgg
     2641 gaactgggaa agagacagaa ggcgtctggg tgcttttgaa ccctgtctca aatgtttggg
     2701 attttctctc tcactattct ttggttgggg atgatgtcct ctttagaccc ccacgtaatg
     2761 gtatgagaag gtggcaggca gtggctcagc cagccagggg gcaccaagtc atgcagccag
     2821 cgtgagacct gcagttcacc taagcacaga acgagatctc agtatgcctc catgtaaaca
     2881 gattcacata ggcctccaat ttcaatgaga ccttttgcat tttttctcaa agcccttatg
     2941 ttctaaccca tgagaaccat tttacctgcc ctctaagggc caccagcttc gacctgcctc
     3001 aggggacagc agcacagacc agtggctccc tgtccaaggc cgcagagcag acgccatccc
     3061 actgtacaat cgaatttgct ggacaaactt gataggtttc tctgcttagc aacgagccta
     3121 tagttagttg gcacatctgc gttttggcat ctgaggctcc catctgagtg gaggagaaag
     3181 tgttgtgttt attagcagga agtcttgtga aaacagctcg ctgctgtgta tgtttatgga
     3241 tttttctgat ataacagcca gcatggttac cgagtggtag agattctcga acattctcaa
     3301 actctctttt tgggtaaatg attgtgctaa aaataaaatt tattaataaa gaaggggaaa
     3361 aaggagtaac tctacctgac taaatgttac tctaatttat ttatttcttt actaattaag
     3421 taaaaccagg aagtatgatt ttacatcaac cagagaattt ctgaatttat agggaaacac
     3481 tatgtcccca taatgatgct ataattctaa tatatctagt ccccataaac agtaagtaca
     3541 aattatcatt cctttaaagc atttttacac ttcctggaat gagtatatta tcagcaatct
     3601 tttgtcaaat gccagccgta taaatgttac ttctgctctt tgtaaacctc aaaactcatt
     3661 attcttgatt ataagcaact ggacagaacc atgccaaagc ttccccgttt cccaccaaac
     3721 ccctgccagt gagtgcagag aactcgcaaa gccacagcag gcggtctcag ccaccgtccc
     3781 gctcacaggg gcccaatgcc aggtcacaac actaagaata tctttcaaaa aatgtgtctt
     3841 tttttttttt ttttttaaag ctactgcttg actgttcctt agaataaata aaggatattt
     3901 tataaatta
//
