LOCUS       NM_152387               2939 bp    mRNA    linear   PRI 09-FEB-2024
DEFINITION  Homo sapiens potassium channel tetramerization domain containing 18
            (KCTD18), transcript variant 1, mRNA.
ACCESSION   NM_152387 NM_175916
VERSION     NM_152387.4
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 2939)
  AUTHORS   Pichler,I., Schwienbacher,C., Zanon,A., Fuchsberger,C., Serafin,A.,
            Facheris,M.F., Marroni,F., Pattaro,C., Shen,Y., Tellgren-Roth,C.,
            Gyllensten,U., Gusella,J.F., Hicks,A.A. and Pramstaller,P.P.
  TITLE     Fine-mapping of restless legs locus 4 (RLS4) identifies a haplotype
            over the SPATS2L and KCTD18 genes
  JOURNAL   J Mol Neurosci 49 (3), 600-605 (2013)
   PUBMED   23054586
  REMARK    GeneRIF: A haplotype of 23 SNPs spanning 131.6 Kb shared by all
            affected members of 3 linked families with restless legs syndrome
            was identified. The shared candidate region covers 46.9 Kb over the
            potassium channel-related gene KCTD18 and exons 10-13 of SPATS2L.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA343572.1, BC045189.1, CB960352.1 and BU181789.1.
            
            On Nov 22, 2018 this sequence version replaced NM_152387.3.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC045189.1, SRR1660805.223353.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000359878.8/ ENSP00000352941.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-9                 DA343572.1         27-35
            10-487              BC045189.1         7-484
            488-1049            CB960352.1         132-693
            1050-1513           BC045189.1         1047-1510
            1514-1684           BU181789.1         396-566
            1685-2939           BC045189.1         1682-2936
FEATURES             Location/Qualifiers
     source          1..2939
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q33.1"
     gene            1..2939
                     /gene="KCTD18"
                     /gene_synonym="6530404F10Rik"
                     /note="potassium channel tetramerization domain containing
                     18"
                     /db_xref="GeneID:130535"
                     /db_xref="HGNC:HGNC:26446"
     exon            1..441
                     /gene="KCTD18"
                     /gene_synonym="6530404F10Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            442..676
                     /gene="KCTD18"
                     /gene_synonym="6530404F10Rik"
                     /inference="alignment:Splign:2.1.0"
     CDS             517..1797
                     /gene="KCTD18"
                     /gene_synonym="6530404F10Rik"
                     /note="isoform 1 is encoded by transcript variant 1;
                     BTB/POZ domain-containing protein KCTD18; potassium
                     channel tetramerisation domain containing 18"
                     /codon_start=1
                     /product="BTB/POZ domain-containing protein KCTD18 isoform
                     1"
                     /protein_id="NP_689600.2"
                     /db_xref="CCDS:CCDS2330.1"
                     /db_xref="GeneID:130535"
                     /db_xref="HGNC:HGNC:26446"
                     /translation="MEGHKAEEEVLDVLRLNVGGCIYTARRESLCRFKDSMLASMFSG
                     RFPLKTDESGACVIDRDGRLFKYLLDYLHGEVQIPTDEQTRIALQEEADYFGIPYPYS
                     LSDHLANEMETYSLRSNIELKKALTDFCDSYGLVCNKPTVWVLHYLNTSGASCESRII
                     GVYATKTDGTDAIEKQLGGRIHSKGIFKREAGNNVQYIWSYYSVAELKKMMDAFDAWE
                     GKGVSYWRVPHELIECWTLEERPLLGSLRHMAPIRKRRLITFNEADESVNYKTGPKPV
                     RFLGPSTSTQIKVKNSASVTVSPASAIQTSAGATANRFQSGSRRKAAQRSAPSRATAL
                     VGTGAPGHPQASPGAASAENGGTHLPPAKVLLSDKKPTPQRVIKLKRTPLCATAPCLP
                     SPTATRQANSLKPLPGEAARALGVRTENGKNKGN"
     exon            677..888
                     /gene="KCTD18"
                     /gene_synonym="6530404F10Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            889..1082
                     /gene="KCTD18"
                     /gene_synonym="6530404F10Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            1083..1177
                     /gene="KCTD18"
                     /gene_synonym="6530404F10Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            1178..1280
                     /gene="KCTD18"
                     /gene_synonym="6530404F10Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            1281..2939
                     /gene="KCTD18"
                     /gene_synonym="6530404F10Rik"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2919..2924
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KCTD18"
                     /gene_synonym="6530404F10Rik"
                     /note="hexamer: AATAAA"
     polyA_site      2933
                     /gene="KCTD18"
                     /gene_synonym="6530404F10Rik"
     polyA_site      2939
                     /gene="KCTD18"
                     /gene_synonym="6530404F10Rik"
                     /note="major polyA site"
ORIGIN      
        1 acttccgcgt ccgccccgcg gcgtccggcg gccgcgccga gggtctggcg ggccgcaggt
       61 cagtctggga agctgccgac ccgccccacc cccccggtgc ggaagagccg ggcgcgggat
      121 gggccgcggg cccggaaggc ggcggggcgc cctgaggaag ggcacgggcc gcgctggtaa
      181 cgcgcgcgcc ccgggctgca ggctcgggct tcgggccgat ttggggtctc caggccgcgg
      241 aagaccgtgg cggggctttc tggctcccca gctcctcccg gctcttcccg cttcggaaga
      301 ggagtgtgag ccccttgagc gatgtttttc aaagtggggt tcgcgggcag atcccgaccc
      361 ctcctcagac tttctgagga actgtgtgct gtggccggag tgtcttcgtt ttcccaagcg
      421 tccctgatgg ttttgatgca gagggagacc aagacatcat tgttttgaag tttctgaaag
      481 tgttgggcgg caaaaattca ggtgcctggg ggagaaatgg aaggccacaa ggcagaagaa
      541 gaggtgctag atgttctccg actgaacgtg ggtggctgta tttacacagc ccggcgggag
      601 tccttgtgcc gcttcaagga ctccatgttg gcatctatgt tcagtggtcg ctttcctcta
      661 aaaacagatg agtcaggggc ttgtgttatt gaccgtgatg gacgtctatt taaatacctt
      721 ttggattacc ttcatggaga agttcagatt cccacagatg agcaaacccg catcgcccta
      781 caggaagagg ctgattactt tggcatccct tatccataca gcctgtctga ccatttggcc
      841 aatgaaatgg agacatattc tttaaggtca aatatagaac ttaaaaaggc tttaacagac
      901 ttctgtgatt catatggctt agtctgcaat aaaccaacag tttgggttct ccactatctt
      961 aacacatctg gtgcaagctg tgagagtaga attattggtg tatatgccac aaaaactgat
     1021 ggaacagacg ctattgaaaa gcagctggga ggaagaattc acagcaaagg catttttaaa
     1081 agagaggcgg gaaataatgt tcagtacatt tggagctatt attcagtagc agagttgaag
     1141 aaaatgatgg atgcctttga tgcttgggaa ggaaaaggtg ttagctactg gcgggtgcct
     1201 catgagctga tagagtgttg gactctagaa gaacggcctt tacttggaag cctgcgtcac
     1261 atggctccaa ttcgaaagag gcgactgata acgttcaatg aagcggacga aagtgtgaac
     1321 tataagactg gtcctaagcc agttagattt ttgggccctt ccacaagtac ccaaattaaa
     1381 gtcaagaact cggcctcagt cacggtgtct ccagccagtg ccatccagac gtcggctggg
     1441 gcgacagcaa accggtttca aagtggtagc cgcagaaagg cagctcagcg ctctgcacct
     1501 tccagagcca cggccctggt gggcacgggg gcacctgggc atcctcaggc ttcccctggg
     1561 gctgcgagcg ctgaaaatgg aggcacgcac ttacctccag ctaaggtgct actctccgac
     1621 aagaagccta caccccagcg ggtgataaag ctgaagagga ctccgctgtg cgccaccgcg
     1681 ccttgcctgc cctcccccac ggccacgagg caggccaact ccctcaagcc gcttcccggc
     1741 gaagctgccc gtgccttggg agtgcggact gagaacggga agaacaaggg aaattgatga
     1801 aagtggtgga cttgaaattt cccgttcatc tcccaaagct ttcaacccat tcgacgcaaa
     1861 gaagtgacac tttcttaatg cagcagaggg gaagcttagg tttatgttga ggattctgtt
     1921 cctggaattg tgtgagctag gaatggagga ggggagactt tcaatggtta aggctccatt
     1981 tctcattttc ccaactttta tatgattgtc tatgggcagt ttgaatttct ggttttcaat
     2041 ttatttttta atgattaatt cgtattaagg caacaagaca gtacaacaaa taatctctag
     2101 agaggtccac tttgttgctg aagtaaacgt tacttgttgc aacccgagga tgggcatgag
     2161 gtttggcctt aggtattcct gtctgggaaa atggaggggg tgatattagt ggttccctgt
     2221 actatatcac agccaagaga gattagagag agaaaatgta gatcaaggcg agctgcctac
     2281 aaattactct gtctccaaag gcaacgtgaa aagaaatgat ggggaggaaa aaaccccata
     2341 gattgaatta gcactttgac tctcacttaa ttcaacgatt ttctttccta gattggcttt
     2401 tcttactctt ttctgttagt agatttattt ataaacacca caagaagatc tcttgggatc
     2461 agaattatat aatatctttg aagtaaatta ttaaaatatc ctatttaatt tgaatagtga
     2521 agttttgaaa atactttgaa aaagagaagt aaaagtttaa ctttttaact aaagttagta
     2581 tttgtttttc agaaatgacc actgaagatt cattctgatt atacaatatg atttttatgc
     2641 ataaaatttc catgtaactt gaatttaata tttttaaaca gaatattttg actaatcctc
     2701 tattttttca tgactattca gttgtgtgtg tttattcgta aatgttatgt tttgtaattg
     2761 gatcacatat ttctactttc agtgagagta tgccttcact atgttaaaaa ataagctcat
     2821 aaaacagggt actttttatt caaatgctta tcattgtact ttcattgctt tgaaagagta
     2881 aagtaagtat actcaaaaca ttacgtttta caaaatcaaa taaaactttt ccataaaaa
//
