LOCUS       NM_016121               4019 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens potassium channel tetramerization domain containing 3
            (KCTD3), transcript variant 1, mRNA.
ACCESSION   NM_016121
VERSION     NM_016121.5
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 4019)
  AUTHORS   Faqeih,E.A., Almannai,M., Saleh,M.M., AlWadei,A.H., Samman,M.M. and
            Alkuraya,F.S.
  TITLE     Phenotypic characterization of KCTD3-related developmental
            epileptic encephalopathy
  JOURNAL   Clin Genet 93 (5), 1081-1086 (2018)
   PUBMED   29406573
  REMARK    GeneRIF: this largest series to date on KCTD3-mutated patients, we
            show that biallelic loss of function mutations in KCTD3 lead to a
            consistent phenotype of developmental epileptic encephalopathy and
            abnormal cerebellum on brain imaging.
REFERENCE   2  (bases 1 to 4019)
  AUTHORS   Alazami,A.M., Patel,N., Shamseldin,H.E., Anazi,S., Al-Dosari,M.S.,
            Alzahrani,F., Hijazi,H., Alshammari,M., Aldahmesh,M.A., Salih,M.A.,
            Faqeih,E., Alhashem,A., Bashiri,F.A., Al-Owain,M., Kentab,A.Y.,
            Sogaty,S., Al Tala,S., Temsah,M.H., Tulbah,M., Aljelaify,R.F.,
            Alshahwan,S.A., Seidahmed,M.Z., Alhadid,A.A., Aldhalaan,H.,
            AlQallaf,F., Kurdi,W., Alfadhel,M., Babay,Z., Alsogheer,M.,
            Kaya,N., Al-Hassnan,Z.N., Abdel-Salam,G.M., Al-Sannaa,N., Al
            Mutairi,F., El Khashab,H.Y., Bohlega,S., Jia,X., Nguyen,H.C.,
            Hammami,R., Adly,N., Mohamed,J.Y., Abdulwahab,F., Ibrahim,N.,
            Naim,E.A., Al-Younes,B., Meyer,B.F., Hashem,M., Shaheen,R.,
            Xiong,Y., Abouelhoda,M., Aldeeri,A.A., Monies,D.M. and
            Alkuraya,F.S.
  TITLE     Accelerating novel candidate gene discovery in neurogenetic
            disorders via whole-exome sequencing of prescreened multiplex
            consanguineous families
  JOURNAL   Cell Rep 10 (2), 148-161 (2015)
   PUBMED   25558065
REFERENCE   3  (bases 1 to 4019)
  AUTHORS   Cao-Ehlker,X., Zong,X., Hammelmann,V., Gruner,C., Fenske,S.,
            Michalakis,S., Wahl-Schott,C. and Biel,M.
  TITLE     Up-regulation of hyperpolarization-activated cyclic
            nucleotide-gated channel 3 (HCN3) by specific interaction with K+
            channel tetramerization domain-containing protein 3 (KCTD3)
  JOURNAL   J Biol Chem 288 (11), 7580-7589 (2013)
   PUBMED   23382386
  REMARK    GeneRIF: KCTD3 is an accessory subunit of native HCN3 complexes
REFERENCE   4  (bases 1 to 4019)
  AUTHORS   Poot,M., Beyer,V., Schwaab,I., Damatova,N., Van't Slot,R.,
            Prothero,J., Holder,S.E. and Haaf,T.
  TITLE     Disruption of CNTNAP2 and additional structural genome changes in a
            boy with speech delay and autism spectrum disorder
  JOURNAL   Neurogenetics 11 (1), 81-89 (2010)
   PUBMED   19582487
REFERENCE   5  (bases 1 to 4019)
  AUTHORS   Lehner,B. and Sanderson,C.M.
  TITLE     A protein interaction framework for human mRNA degradation
  JOURNAL   Genome Res 14 (7), 1315-1323 (2004)
   PUBMED   15231747
REFERENCE   6  (bases 1 to 4019)
  AUTHORS   Scanlan,M.J., Gordan,J.D., Williamson,B., Stockert,E., Bander,N.H.,
            Jongeneel,V., Gure,A.O., Jager,D., Jager,E., Knuth,A., Chen,Y.T.
            and Old,L.J.
  TITLE     Antigens recognized by autologous antibody in patients with
            renal-cell carcinoma
  JOURNAL   Int J Cancer 83 (4), 456-464 (1999)
   PUBMED   10508479
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL365315.8, HY029594.1,
            BC117188.1, BC094879.1 and CK902987.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_016121.4.
            
            Summary: This gene encodes a member of the potassium channel
            tetramerization-domain containing (KCTD) protein family. Members of
            this protein family regulate the biophysical characteristics of ion
            channels. In mouse, this protein interacts with
            hyperpolarization-activated cyclic nucleotide-gated channel complex
            3 and enhances its cell surface expression and current density.
            Alternative splicing results in multiple transcript variants.
            [provided by RefSeq, Feb 2016].
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660805.149050.1,
                                           SRR1803613.94087.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000259154.9/ ENSP00000259154.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-75                AL365315.8         48758-48832
            76-193              HY029594.1         2-119
            194-2703            BC117188.1         1-2510
            2704-3777           BC094879.1         2572-3645
            3778-4019           CK902987.1         24-265              c
FEATURES             Location/Qualifiers
     source          1..4019
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q41"
     gene            1..4019
                     /gene="KCTD3"
                     /gene_synonym="NY-REN-45"
                     /note="potassium channel tetramerization domain containing
                     3"
                     /db_xref="GeneID:51133"
                     /db_xref="HGNC:HGNC:21305"
                     /db_xref="MIM:613272"
     exon            1..465
                     /gene="KCTD3"
                     /gene_synonym="NY-REN-45"
                     /inference="alignment:Splign:2.1.0"
     CDS             383..2830
                     /gene="KCTD3"
                     /gene_synonym="NY-REN-45"
                     /note="isoform 1 is encoded by transcript variant 1;
                     NY-REN-45 antigen; BTB/POZ domain-containing protein
                     KCTD3; renal carcinoma antigen NY-REN-45; potassium
                     channel tetramerisation domain containing 3"
                     /codon_start=1
                     /product="BTB/POZ domain-containing protein KCTD3 isoform
                     1"
                     /protein_id="NP_057205.2"
                     /db_xref="CCDS:CCDS1515.1"
                     /db_xref="GeneID:51133"
                     /db_xref="HGNC:HGNC:21305"
                     /db_xref="MIM:613272"
                     /translation="MAGGHCGSFPAAAAGSGEIVQLNVGGTRFSTSRQTLMWIPDSFF
                     SSLLSGRISTLRDETGAIFIDRDPAAFAPILNFLRTKELDLRGVSINVLRHEAEFYGI
                     TPLVRRLLLCEELERSSCGSVLFHGYLPPPGIPSRKINNTVRSADSRNGLNSTEGEAR
                     GNGTQPVLSGTGEETVRLGFPVDPRKVLIVAGHHNWIVAAYAHFAVCYRIKESSGWQQ
                     VFTSPYLDWTIERVALNAKVVGGPHGDKDKMVAVASESSIILWSVQDGGSGSEIGVFS
                     LGVPVDALFFIGNQLVATSHTGKVGVWNAVTQHWQVQDVVPITSYDTAGSFLLLGCNN
                     GSIYYIDMQKFPLRMKDNDLLVTELYHDPSNDAITALSVYLTPKTSVSGNWIEIAYGT
                     SSGAVRVIVQHPETVGSGPQLFQTFTVHRSPVTKIMLSEKHLVSVCADNNHVRTWTVT
                     RFRGMISTQPGSTPLASFKILSLEETESHGSYSSGNDIGPFGERDDQQVFIQKVVPIT
                     NKLFVRLSSTGKRICEIQAVDCTTISSFTVRECEGSSRMGSRPRRYLFTGHTNGSIQM
                     WDLTTAMDMVNKSEDKDVGGPTEEELLKLLDQCDLSTSRCATPNISPATSVVQHSHLR
                     ESNSSLQLQHHDTTHEAATYGSMRPYRESPLLARARRTESFHSYRDFQTINLNRNVER
                     AVPENGNLGPIQAEVKGATGECNISERKSPGVEIKSLRELDSGLEVHKIAEGFSESKK
                     RSSEDENENKIEFRKKGGFEGGGFLGRKKVPYLASSPSTSDGGTDSPGTASPSPTKTT
                     PSPRHKKSDSSGQEYSL"
     exon            466..519
                     /gene="KCTD3"
                     /gene_synonym="NY-REN-45"
                     /inference="alignment:Splign:2.1.0"
     exon            520..565
                     /gene="KCTD3"
                     /gene_synonym="NY-REN-45"
                     /inference="alignment:Splign:2.1.0"
     exon            566..639
                     /gene="KCTD3"
                     /gene_synonym="NY-REN-45"
                     /inference="alignment:Splign:2.1.0"
     exon            640..698
                     /gene="KCTD3"
                     /gene_synonym="NY-REN-45"
                     /inference="alignment:Splign:2.1.0"
     exon            699..779
                     /gene="KCTD3"
                     /gene_synonym="NY-REN-45"
                     /inference="alignment:Splign:2.1.0"
     exon            780..917
                     /gene="KCTD3"
                     /gene_synonym="NY-REN-45"
                     /inference="alignment:Splign:2.1.0"
     exon            918..1008
                     /gene="KCTD3"
                     /gene_synonym="NY-REN-45"
                     /inference="alignment:Splign:2.1.0"
     exon            1009..1199
                     /gene="KCTD3"
                     /gene_synonym="NY-REN-45"
                     /inference="alignment:Splign:2.1.0"
     exon            1200..1315
                     /gene="KCTD3"
                     /gene_synonym="NY-REN-45"
                     /inference="alignment:Splign:2.1.0"
     exon            1316..1403
                     /gene="KCTD3"
                     /gene_synonym="NY-REN-45"
                     /inference="alignment:Splign:2.1.0"
     exon            1404..1520
                     /gene="KCTD3"
                     /gene_synonym="NY-REN-45"
                     /inference="alignment:Splign:2.1.0"
     exon            1521..1691
                     /gene="KCTD3"
                     /gene_synonym="NY-REN-45"
                     /inference="alignment:Splign:2.1.0"
     exon            1692..1847
                     /gene="KCTD3"
                     /gene_synonym="NY-REN-45"
                     /inference="alignment:Splign:2.1.0"
     exon            1848..1944
                     /gene="KCTD3"
                     /gene_synonym="NY-REN-45"
                     /inference="alignment:Splign:2.1.0"
     exon            1945..2129
                     /gene="KCTD3"
                     /gene_synonym="NY-REN-45"
                     /inference="alignment:Splign:2.1.0"
     exon            2130..2268
                     /gene="KCTD3"
                     /gene_synonym="NY-REN-45"
                     /inference="alignment:Splign:2.1.0"
     exon            2269..4019
                     /gene="KCTD3"
                     /gene_synonym="NY-REN-45"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3924..3929
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KCTD3"
                     /gene_synonym="NY-REN-45"
                     /note="hexamer: AATAAA"
     polyA_site      3943
                     /gene="KCTD3"
                     /gene_synonym="NY-REN-45"
                     /note="major polyA site"
     regulatory      3991..3996
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KCTD3"
                     /gene_synonym="NY-REN-45"
                     /note="hexamer: ATTAAA"
     regulatory      4000..4005
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KCTD3"
                     /gene_synonym="NY-REN-45"
                     /note="hexamer: AATAAA"
     polyA_site      4010
                     /gene="KCTD3"
                     /gene_synonym="NY-REN-45"
     polyA_site      4019
                     /gene="KCTD3"
                     /gene_synonym="NY-REN-45"
                     /note="major polyA site"
ORIGIN      
        1 attctaggcg gcagtggcgg gcgaagcgtg agcgctgcgg tattttgtcc cgaacggtga
       61 cccctcctcc caggcaggct gcggcggcgt cggtggcagc ggagcacgga gaagaggccc
      121 gggcggcccg gcggcctgga ggccgcgaaa ggtggaggcc gggccgccct tgtgcaccgc
      181 aggattgacc cgggaagggg cagaagctag cgagccccgc ccggccgccg ggaaggtggg
      241 ggaagccccg tgcacccccc gccctccggc cgccgccgcc ccgctggccc tgcagccgtc
      301 gccgctgcct cgggctacag ccccgggctc ggcggtcccg gctggggaag gagggcggcg
      361 agcgcgtccg gagccgccgg agatggcggg agggcactgc ggcagcttcc ccgcggcggc
      421 ggccggcagc ggcgagatcg tccaactgaa cgtagggggg accagattta gtacctcaag
      481 acaaactctt atgtggattc cagattcttt tttttccagt ttgctgagtg ggagaatttc
      541 aacacttcga gatgaaactg gtgctatatt tattgataga gatccagcag catttgcacc
      601 cattttaaat tttcttcgga caaaagaact agacttaagg ggagtgagta ttaatgttct
      661 caggcatgaa gcagaatttt acgggatcac tccattagta agaaggcttc tcttatgtga
      721 agaattggag cgttcctctt gtggcagtgt cctttttcat ggttacttgc ccccaccagg
      781 tattcctagt cgtaaaataa acaacacagt cagatctgct gattctagga atggtctaaa
      841 ttctacagaa ggtgaagccc ggggaaatgg tacacagcct gttctctctg gaacgggaga
      901 agaaactgtt aggctaggat ttcctgtgga tccacgaaag gtgctaatag tagctggcca
      961 tcacaactgg attgtagctg catatgccca ttttgctgtg tgttacagaa tcaaagaatc
     1021 ttcaggatgg cagcaagtgt ttacgagccc atatttggat tggactatcg aacgagtagc
     1081 tttaaatgca aaggtggttg gagggccaca tggagacaaa gacaaaatgg ttgctgttgc
     1141 ctcagagagt agcatcatct tgtggagtgt tcaggatggg ggaagtggaa gtgaaattgg
     1201 agtgttcagc ctgggtgttc ctgtagatgc tctcttcttt attggtaacc agttggtggc
     1261 cacgagtcat acagggaaag tgggagtgtg gaatgctgtc actcagcact ggcaggttca
     1321 agatgttgtt cctataacta gttatgacac tgctggatca ttccttctgc ttggatgtaa
     1381 caatggatca atatattaca tagatatgca gaagttcccc ttgcgaatga aagataatga
     1441 tcttcttgta actgaactgt atcatgatcc ttcaaatgat gctattactg ctctgagtgt
     1501 ttacctcaca cccaaaacaa gtgtcagtgg taactggatc gagatcgcct atggtacgag
     1561 ctctggagca gtacgagtga ttgtacaaca cccagagaca gttgggtcag gtcctcagct
     1621 ttttcagact ttcacagttc accgaagtcc cgtaacaaaa atcatgctat cagagaagca
     1681 tcttgtatca gtctgtgcag ataataatca tgtccggacg tggacagtaa cacgattcag
     1741 aggaatgatc tctactcagc caggttctac tcctttagcg tcattcaaga tactatccct
     1801 ggaggagaca gaaagtcatg gtagctattc ctctggaaat gacataggac cttttggaga
     1861 gcgagacgat caacaggtgt ttatccagaa agttgttccc atcaccaaca aactatttgt
     1921 aagactctca tcgactggaa aaagaatatg tgagatccag gctgttgact gtactacaat
     1981 atcctcattt acagtgaggg aatgtgaggg atccagtagg atgggctcaa gaccaaggcg
     2041 ctacttgttc acaggccata caaatggcag tattcaaatg tgggatctga ccactgctat
     2101 ggatatggtt aacaaaagtg aagataagga tgtaggtggt ccaaccgaag aagagctact
     2161 caaattactc gatcaatgtg atttgagcac atctcgctgt gctactccta acatcagtcc
     2221 agcaacttcc gtagttcagc atagccactt acgagaatca aattctagcc ttcagcttca
     2281 gcaccatgat accacccatg aagcagctac ttacggttcc atgaggcctt acagagaaag
     2341 tcctttatta gcaagggcaa gaaggactga gagctttcac agttataggg acttccagac
     2401 tattaatttg aacagaaatg tagaaagagc tgtccctgaa aatggtaact tgggtccaat
     2461 acaagctgaa gtgaaagggg caacagggga atgtaatata tctgagagaa agtctcctgg
     2521 agtagaaata aaaagtttga gagaattgga tagtggattg gaagtgcata aaatagctga
     2581 aggtttttca gaatccaaga aaaggtcatc agaagatgaa aatgaaaata aaatagagtt
     2641 taggaagaaa ggaggatttg aagggggagg attccttgga agaaagaaag ttccctatct
     2701 ggcgtcatca ccaagtactt ccgatggagg aactgactca cctggtactg cgtccccatc
     2761 tcctacaaag actactccat ctcctcggca taaaaaaagt gattcttcag gtcaggagta
     2821 cagcttgtga aaactcacca aaatgaatag ttgtttcgtt acatttagat gaaagttaaa
     2881 ctttactgaa tttcagtaca ttagttttta cactaaaact ttacaagata aaattggact
     2941 tcatttagta tctttttaac agaattactt ggaataatga gatacaataa tcatatctct
     3001 tttgacattt tggaaatttt tttaatttta caagtacatt taacagatca tttataaagc
     3061 aggagtccat tttaacactt accgactttt tttggtttgg aaacatatta ccacgtctta
     3121 ataggatggt gcccatatag gtgagcatcc ctttagatca tgggaaccag cagactgcat
     3181 tcctaatctt cattatgcct gagacttgtc ttacaatgtt acctttaagt gaatcacata
     3241 attgtctttg gaacttggtc tcccaacact tattgtgatt gcaaagtgtt taccagatat
     3301 ttgatgaggt gctatgtttg tgaaaaacat atcatgtaat tcaaaaacac tattgatatt
     3361 gaataccaga taccactatg tagtaagtct tttaggatga ttttaattta gtcgtgcgtc
     3421 attttctgat tctcatcatt gggagatctt aaatcttagc aagcattagc aatattaaat
     3481 gccaaaattc cattgaaact ttcaagttgg agcaattgtc tgtgtttgaa aagatgaaat
     3541 aaaaataata atcaagggca aagctttgag tgcccagaag ggaaagctgt accagttgct
     3601 aacctgtctt gtttcaggag ccaccatgtt tttttttcag tgttaacaac aatcatgata
     3661 attaaattaa aacactagtt tgttcacttg taggactgca gttctgaatt ttgggttaaa
     3721 ggttttggct gctgtaagaa tgtgaatttg aatgtatttt gaattgtaag agcaaaagaa
     3781 cgtttttgta caattttttt tcatttaatt ggaatgatct tcaggtttct acaaataggg
     3841 taattgtaaa tttaaagcat tagcatttat tggtgaataa tgtatatatc cccattccaa
     3901 gaaatataag tgagtgaagt tgaaataaaa tctttaaaat ttactatatt gccagtggtt
     3961 tcacaacagt tctcttgtat ttatttatca attaaatcaa ataaaaatga ttatgtcaa
//
