LOCUS       NM_001142730            3448 bp    mRNA    linear   PRI 17-SEP-2024
DEFINITION  Homo sapiens potassium channel tetramerization domain containing 1
            (KCTD1), transcript variant 3, mRNA.
ACCESSION   NM_001142730
VERSION     NM_001142730.3
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 3448)
  AUTHORS   Balasco,N., Ruggiero,A., Smaldone,G., Pecoraro,G., Coppola,L.,
            Pirone,L., Pedone,E.M., Esposito,L., Berisio,R. and Vitagliano,L.
  TITLE     Structural studies of KCTD1 and its disease-causing mutant P20S
            provide insights into the protein function and misfunction
  JOURNAL   Int J Biol Macromol 277 (Pt 4), 134390 (2024)
   PUBMED   39111466
  REMARK    GeneRIF: Structural studies of KCTD1 and its disease-causing mutant
            P20S provide insights into the protein function and misfunction.
REFERENCE   2  (bases 1 to 3448)
  AUTHORS   Ruangchan,C., Ngamphiw,C., Krasaesin,A., Intarak,N., Tongsima,S.,
            Kaewgahya,M., Kawasaki,K., Mahawong,P., Paripurana,K., Sookawat,B.,
            Jatooratthawichot,P., Cox,T.C., Ohazama,A., Ketudat Cairns,J.R.,
            Porntaveetus,T. and Kantaputra,P.
  TITLE     Genetic Variants in KCTD1 Are Associated with Isolated Dental
            Anomalies
  JOURNAL   Int J Mol Sci 25 (10), 5179 (2024)
   PUBMED   38791218
  REMARK    GeneRIF: Genetic Variants in KCTD1 Are Associated with Isolated
            Dental Anomalies.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3448)
  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   4  (bases 1 to 3448)
  AUTHORS   Marneros,A.G.
  TITLE     Magnesium and Calcium Homeostasis Depend on KCTD1 Function in the
            Distal Nephron
  JOURNAL   Cell Rep 34 (2), 108616 (2021)
   PUBMED   33440155
  REMARK    GeneRIF: Magnesium and Calcium Homeostasis Depend on KCTD1 Function
            in the Distal Nephron.
REFERENCE   5  (bases 1 to 3448)
  AUTHORS   Hu,L., Chen,L., Yang,L., Ye,Z., Huang,W., Li,X., Liu,Q., Qiu,J. and
            Ding,X.
  TITLE     KCTD1 mutants in scalp-ear-nipple syndrome and AP-2alpha P59A in
            Char syndrome reciprocally abrogate their interactions, but can
            regulate Wnt/beta-catenin signaling
  JOURNAL   Mol Med Rep 22 (5), 3895-3903 (2020)
   PUBMED   33000225
  REMARK    GeneRIF: KCTD1 mutants in scalpearnipple syndrome and AP2alpha P59A
            in Char syndrome reciprocally abrogate their interactions, but can
            regulate Wnt/betacatenin signaling.
REFERENCE   6  (bases 1 to 3448)
  AUTHORS   Marneros,A.G., Beck,A.E., Turner,E.H., McMillin,M.J., Edwards,M.J.,
            Field,M., de Macena Sobreira,N.L., Perez,A.B., Fortes,J.A.,
            Lampe,A.K., Giovannucci Uzielli,M.L., Gordon,C.T., Plessis,G., Le
            Merrer,M., Amiel,J., Reichenberger,E., Shively,K.M., Cerrato,F.,
            Labow,B.I., Tabor,H.K., Smith,J.D., Shendure,J., Nickerson,D.A. and
            Bamshad,M.J.
  CONSRTM   University of Washington Center for Mendelian Genomics
  TITLE     Mutations in KCTD1 cause scalp-ear-nipple syndrome
  JOURNAL   Am J Hum Genet 92 (4), 621-626 (2013)
   PUBMED   23541344
  REMARK    GeneRIF: Mutations in KCTD1 cause scalp-ear-nipple syndrome.
REFERENCE   7  (bases 1 to 3448)
  AUTHORS   Mei,F., Xiang,J., Han,S., He,Y., Lu,Y., Xu,J., Guo,D., Xiao,G.,
            Tien,P. and Sun,G.
  TITLE     Expression, purification, and secondary structure characterization
            of recombinant KCTD1
  JOURNAL   Biochemistry (Mosc) 77 (8), 941-945 (2012)
   PUBMED   22860917
REFERENCE   8  (bases 1 to 3448)
  AUTHORS   Kojima,K.K. and Jurka,J.
  TITLE     Crypton transposons: identification of new diverse families and
            ancient domestication events
  JOURNAL   Mob DNA 2 (1), 12 (2011)
   PUBMED   22011512
  REMARK    Publication Status: Online-Only
REFERENCE   9  (bases 1 to 3448)
  AUTHORS   Aouizerat,B.E., Vittinghoff,E., Musone,S.L., Pawlikowska,L.,
            Kwok,P.Y., Olgin,J.E. and Tseng,Z.H.
  TITLE     GWAS for discovery and replication of genetic loci associated with
            sudden cardiac arrest in patients with coronary artery disease
  JOURNAL   BMC Cardiovasc Disord 11, 29 (2011)
   PUBMED   21658281
  REMARK    Publication Status: Online-Only
REFERENCE   10 (bases 1 to 3448)
  AUTHORS   Ding,X., Luo,C., Zhou,J., Zhong,Y., Hu,X., Zhou,F., Ren,K., Gan,L.,
            He,A., Zhu,J., Gao,X. and Zhang,J.
  TITLE     The interaction of KCTD1 with transcription factor AP-2alpha
            inhibits its transactivation
  JOURNAL   J Cell Biochem 106 (2), 285-295 (2009)
   PUBMED   19115315
  REMARK    GeneRIF: indicate the novel function of KCTD1 as the
            transcriptional repressor for AP-2 family, especially for AP-2alpha
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC007996.11.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_001142730.2.
            
            Summary: This gene encodes a protein containing a BTB
            (Broad-complex, tramtrack and bric a brac), also known as a POZ
            (POxvirus and zinc finger) protein-protein interaction domain. The
            encoded protein negatively regulates the AP-2 family of
            transcription factors and the Wnt signaling pathway. A mechanism
            for the modulation of Wnt signaling has been proposed in which the
            encoded protein enhances ubiquitination and degradation of the
            beta-catenin protein. Mutations in this gene have been identified
            in Scalp-ear-nipple (SEN) syndrome. [provided by RefSeq, May 2017].
            
            Transcript Variant: This variant (3) represents the longest
            transcript and encodes the longest isoform (b).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            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 :: SRR1660809.209212.1,
                                           SRR1803617.49877.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2154665, SAMN03267769
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000580059.7/ ENSP00000463041.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1826              AC007996.11        164353-166178       c
            1827-2005           AC007996.11        118697-118875       c
            2006-2150           AC007996.11        94140-94284         c
            2151-2456           AC007996.11        77245-77550         c
            2457-3448           AC007996.11        72535-73526         c
FEATURES             Location/Qualifiers
     source          1..3448
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /map="18q11.2"
     gene            1..3448
                     /gene="KCTD1"
                     /gene_synonym="C18orf5"
                     /note="potassium channel tetramerization domain containing
                     1"
                     /db_xref="GeneID:284252"
                     /db_xref="HGNC:HGNC:18249"
                     /db_xref="MIM:613420"
     exon            1..1826
                     /gene="KCTD1"
                     /gene_synonym="C18orf5"
                     /inference="alignment:Splign:2.1.0"
     CDS             18..2615
                     /gene="KCTD1"
                     /gene_synonym="C18orf5"
                     /note="isoform b is encoded by transcript variant 3;
                     BTB/POZ domain-containing protein KCTD1"
                     /codon_start=1
                     /product="BTB/POZ domain-containing protein KCTD1 isoform
                     b"
                     /protein_id="NP_001136202.1"
                     /db_xref="GeneID:284252"
                     /db_xref="HGNC:HGNC:18249"
                     /db_xref="MIM:613420"
                     /translation="MARMPGSGDCNTSAGGSASAAAAAAENNGERGEGERGAGGRGRR
                     HSRPHYCSAGEEEEEEEEEDEIQEVQITGDEEEEEDGGGGLEEDEEEEEEEEMGLDWD
                     EPLEPEDSAGEELEPEPVHMINMDQSAALEPEAPPRLLAPRARGGPPGDGSELDPDVL
                     QRPERARLSENTRLATRYAVRIFREYLSEKAQSPDFETMDKGALCRVLRSFYAEARSK
                     SGQLYSKSSLISIRSSLNRYLNEPPYCRTLDLTKDPELRSANLTLAAVIRKLEEQGAG
                     PVVQKQAITRADLRKLYTSSVFSTNTPFGLLNKVWFETCMYFCTRGRENQRELEEDSF
                     GLAMDEDGRKFVYFKSLGPYHKSRSSSWSKKRAESSDEENLPRMYETGTEFCPYASFV
                     KYLSKRNPLCKAFFQRPRDHCSEGDVTWYENKAIGKNLLGTRMQMLSKAAKLSKTYTN
                     HCIGAVSIATLNSIAGIGTKLGSPAPQGCYAEALNGAARHHSHHPPTHPSHHHRPQPP
                     SLGNTYILPKDSQVGPDVKSEAAPKRALYESVFGSGEICGPTSPKRLCIRPSEPVDAV
                     VVVSVKHDPLPLLPEANGHRSTNSPTIVSPAIVSPTQDSRPNMSRPLITRSPASPLNN
                     QGIPTPAQLTKSNAPVHIDVGGHMYTSSLATLTKYPESRIGRLFDGTEPIVLDSLKQH
                     YFIDRDGQMFRYILNFLRTSKLLIPDDFKDYTLLYEEAKYFQLQPMLLEMERWKQDRE
                     TGRFSRPCECLVVRVAPDLGERITLSGDKSLIEEVFPEIGDVMCNSVNAGWNHDSTHV
                     IRFPLNGYCHLNSVQVLERLQQRGFEIVGSCGGGVDSSQFSEYVLRRELRRTPRVPSV
                     IRIKQEPLD"
     exon            1827..2005
                     /gene="KCTD1"
                     /gene_synonym="C18orf5"
                     /inference="alignment:Splign:2.1.0"
     exon            2006..2150
                     /gene="KCTD1"
                     /gene_synonym="C18orf5"
                     /inference="alignment:Splign:2.1.0"
     exon            2151..2456
                     /gene="KCTD1"
                     /gene_synonym="C18orf5"
                     /inference="alignment:Splign:2.1.0"
     exon            2457..3448
                     /gene="KCTD1"
                     /gene_synonym="C18orf5"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3362..3367
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KCTD1"
                     /gene_synonym="C18orf5"
                     /note="hexamer: AATAAA"
     polyA_site      3384
                     /gene="KCTD1"
                     /gene_synonym="C18orf5"
                     /note="major polyA site"
     regulatory      3421..3426
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KCTD1"
                     /gene_synonym="C18orf5"
                     /note="hexamer: ATTAAA"
     polyA_site      3448
                     /gene="KCTD1"
                     /gene_synonym="C18orf5"
ORIGIN      
        1 ggcagagaga cggcaatatg gcgagaatgc ctggcagcgg ggactgtaac accagcgcgg
       61 gcggcagcgc cagcgctgcc gccgccgccg ccgagaacaa tggggagcgg ggcgagggcg
      121 agcgcggcgc ggggggccgc ggccgccgcc acagccgtcc gcactactgc agcgcgggcg
      181 aggaggagga ggaagaggag gaggaggacg agatccagga ggtgcagata acgggggacg
      241 aggaggagga ggaggacgga ggtggggggc tggaggagga cgaggaggag gaggaagagg
      301 aggagatggg gctggactgg gacgagcccc tggagcccga ggactcggcc ggggaggagc
      361 tggagcccga gccggtccat atgatcaata tggaccagag cgccgcgctg gagcccgagg
      421 cgccgccgcg actgctggcg ccccgggccc gcggtgggcc gcccggggac ggctccgagc
      481 tggaccccga cgtgctgcag cgccccgagc gggcccggct gagcgagaac acccggctgg
      541 ccacccgcta cgccgtgcgc atcttccggg agtacctgag cgagaaggcg cagagcccgg
      601 acttcgagac catggacaag ggggcgctgt gccgcgtgct gcgctccttc tatgccgagg
      661 cccgctccaa aagcggccag ctctacagca agtcgtcgct catcagcatc cgcagctccc
      721 tcaaccgcta cctcaatgag cccccgtact gccgcacgct cgacctcacc aaggaccccg
      781 agctgcgcag cgccaacctg acgctggccg cggtcatccg caagctcgag gagcagggcg
      841 ccgggccggt ggtgcagaag caagccatca cgcgcgccga cctgcgcaag ctgtacacct
      901 ccagcgtctt cagcaccaac acgcccttcg ggctgctcaa caaggtctgg ttcgagacgt
      961 gcatgtactt ctgtacccgc ggccgcgaga accagcgtga gttggaggag gactcttttg
     1021 ggctggccat ggacgaggac ggtcgcaagt tcgtctactt caagtccctc gggccctacc
     1081 acaagtcgcg ctcgtcgtcg tggagcaaga agcgcgccga gagcagcgac gaggagaact
     1141 tgccccgcat gtatgagacg ggcaccgagt tctgccccta cgccagcttc gtcaagtacc
     1201 tgtcgaaacg caaccctctc tgcaaggcgt tcttccagcg gccccgggac cactgcagcg
     1261 agggcgatgt gacctggtac gagaacaaag ccatcggcaa gaacttgcta ggcactcgga
     1321 tgcagatgct ctccaaggcg gccaagctct ccaagaccta caccaaccac tgcatcggcg
     1381 ccgtctccat cgccacgctc aacagcatcg cgggcattgg caccaagctg ggctcgcccg
     1441 ccccgcaggg ctgctacgcc gaggctctga acggggcggc acggcaccac tcccaccacc
     1501 cccccaccca tccctcccac caccaccgcc cccagccgcc ctcgctgggg aacacttaca
     1561 tcctccccaa agacagccag gtcgggcccg acgtgaaatc cgaggctgcg cccaagcgcg
     1621 ccctgtacga gtctgtgttc gggtcggggg aaatctgcgg ccccacttcc cccaaaagac
     1681 tttgtatccg cccctcggag cctgtggatg cggtggtggt ggtttccgtg aaacacgacc
     1741 ccctgcctct tcttccagaa gccaatgggc acagaagcac caattctccc acaatagttt
     1801 cacctgctat tgtttccccc acccaggaca gtcggcccaa tatgtcaaga cctctgatca
     1861 ctagatcccc tgcatctcca ctgaacaacc aaggcatccc tactccagca caactcacaa
     1921 aatccaatgc gcctgtccac attgatgtgg gcggccacat gtacaccagc agcctggcca
     1981 ccctcaccaa ataccctgaa tccagaatcg gaagactttt tgatggtaca gagcccattg
     2041 ttttggacag tctcaaacag cactatttca ttgacagaga tggacagatg ttcagatata
     2101 tcttgaattt tctacgaaca tccaaactcc tcattcctga tgatttcaag gactacactt
     2161 tgttatatga agaggcaaaa tattttcagc ttcagcccat gttgttggag atggaaagat
     2221 ggaagcagga cagagaaact ggtcgatttt caaggccctg tgagtgcctc gtcgtgcgtg
     2281 tggccccaga cctcggagaa aggatcacgc taagcggtga caaatccttg atagaagaag
     2341 tatttccaga gatcggcgac gtgatgtgta actctgtcaa tgcaggctgg aatcacgact
     2401 cgacgcacgt catcaggttt ccactaaatg gctactgtca cctcaactca gtccaggtcc
     2461 tcgagaggtt gcagcaaaga ggatttgaaa tcgtgggctc ctgtggggga ggagtagact
     2521 cgtcccagtt cagcgaatac gtccttcggc gggaactgag gcggacgccc cgtgtaccct
     2581 ccgtcatccg gataaagcaa gagcctctgg actaaatgga catatttctt atgcaaaaag
     2641 gaaaacacac acaaccaata actcaaacaa aaaagggaca tttatgtgca gttgggacag
     2701 caaaccaagt cctggacgta aaatcgaata aaagacacat ttatatccaa tagagaccac
     2761 acctgtattc atatgggaac aattggaata gtgatatcct caaggtgtaa aaaatatata
     2821 aatatatata tatatgtcaa aaggtaggaa atgcaaaaaa gaaaaaaaaa aaaggtgaca
     2881 gccgcagttg gtgctgtgat ggccgtgaag tgtcctgggc cttccgaggc ctctgacaaa
     2941 taaacaagcc atgagtggtg aggacacagt ctccttacag tttccattgc caacaacagc
     3001 catccatatt tcttttttcc tttgtctttc tttttccttt ttttttaaaa aaacaaaaca
     3061 aacaaaacac cttgaatcaa gtttgtttgt atatggaggt tccacgtctt tctttaggca
     3121 gggaccaggc aggacttcag aaaaaccctc atgagcacat tgcaaagatg ttagacatga
     3181 aattttaaat gtagtttgta cagaagtcac acttttttgt ccacctcaca gatgtgaact
     3241 ttactttgtt ttaaaactga tcagttttgc caaggggcca gaattattcc ttgttagaat
     3301 tgctccagtt caagtctgct gctttcctac aatttttcaa attttataat gtattaaata
     3361 caataaactc tgtttaaaaa ataaggtctg tgtgaaacac acatgtgggg gtgaggctgg
     3421 attaaagtga aattttttct ttttgaaa
//
