LOCUS       NM_153033               4869 bp    mRNA    linear   PRI 12-OCT-2024
DEFINITION  Homo sapiens potassium channel tetramerization domain containing 7
            (KCTD7), transcript variant 1, mRNA.
ACCESSION   NM_153033
VERSION     NM_153033.5
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 4869)
  AUTHORS   Rizk,R., Devost,D., Petrin,D. and Hebert,T.E.
  TITLE     KCTD Proteins Have Redundant Functions in Controlling Cellular
            Growth
  JOURNAL   Int J Mol Sci 25 (9), 4993 (2024)
   PUBMED   38732215
  REMARK    GeneRIF: KCTD Proteins Have Redundant Functions in Controlling
            Cellular Growth.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 4869)
  AUTHORS   Yoganathan,S., Whitney,R., Thomas,M., Danda,S., Chettali,A.M.,
            Prasad,A.N., Farhan,S.M.K., AlSowat,D., Abukhaled,M., Aldhalaan,H.,
            Gowda,V.K., Kinhal,U.V., Bylappa,A.Y., Konanki,R., Lingappa,L.,
            Parchuri,B.M., Appendino,J.P., Scantlebury,M.H., Cunningham,J.,
            Hadjinicolaou,A., El Achkar,C.M., Kamate,M., Menon,R.N., Jose,M.,
            Riordan,G., Kannan,L., Jain,V., Manokaran,R.K., Chau,V.,
            Donner,E.J., Costain,G., Minassian,B.A. and Jain,P.
  TITLE     KCTD7-related progressive myoclonic epilepsy: Report of 42 cases
            and review of literature
  JOURNAL   Epilepsia 65 (3), 709-724 (2024)
   PUBMED   38231304
  REMARK    GeneRIF: KCTD7-related progressive myoclonic epilepsy: Report of 42
            cases and review of literature.
REFERENCE   3  (bases 1 to 4869)
  AUTHORS   Lee,C.Y., Hubrich,D., Varga,J.K., Schafer,C., Welzel,M.,
            Schumbera,E., Djokic,M., Strom,J.M., Schonfeld,J., Geist,J.L.,
            Polat,F., Gibson,T.J., Keller Valsecchi,C.I., Kumar,M.,
            Schueler-Furman,O. and Luck,K.
  TITLE     Systematic discovery of protein interaction interfaces using
            AlphaFold and experimental validation
  JOURNAL   Mol Syst Biol 20 (2), 75-97 (2024)
   PUBMED   38225382
REFERENCE   4  (bases 1 to 4869)
  AUTHORS   Wang,Y., Cao,X., Liu,P., Zeng,W., Peng,R., Shi,Q., Feng,K.,
            Zhang,P., Sun,H., Wang,C. and Wang,H.
  TITLE     KCTD7 mutations impair the trafficking of lysosomal enzymes through
            CLN5 accumulation to cause neuronal ceroid lipofuscinoses
  JOURNAL   Sci Adv 8 (31), eabm5578 (2022)
   PUBMED   35921411
  REMARK    GeneRIF: KCTD7 mutations impair the trafficking of lysosomal
            enzymes through CLN5 accumulation to cause neuronal ceroid
            lipofuscinoses.
REFERENCE   5  (bases 1 to 4869)
  AUTHORS   Krabichler,B., Rostasy,K., Baumann,M., Karall,D., Scholl-Burgi,S.,
            Schwarzer,C., Gautsch,K., Spreiz,A., Kotzot,D., Zschocke,J.,
            Fauth,C. and Haberlandt,E.
  TITLE     Novel mutation in potassium channel related gene KCTD7 and
            progressive myoclonic epilepsy
  JOURNAL   Ann Hum Genet 76 (4), 326-331 (2012)
   PUBMED   22606975
REFERENCE   6  (bases 1 to 4869)
  AUTHORS   Wineinger,N.E., Patki,A., Meyers,K.J., Broeckel,U., Gu,C.C.,
            Rao,D.C., Devereux,R.B., Arnett,D.K. and Tiwari,H.K.
  TITLE     Genome-wide joint SNP and CNV analysis of aortic root diameter in
            African Americans: the HyperGEN study
  JOURNAL   BMC Med Genomics 4, 4 (2011)
   PUBMED   21223598
  REMARK    Publication Status: Online-Only
REFERENCE   7  (bases 1 to 4869)
  AUTHORS   Van Bogaert,P., Azizieh,R., Desir,J., Aeby,A., De Meirleir,L.,
            Laes,J.F., Christiaens,F. and Abramowicz,M.J.
  TITLE     Mutation of a potassium channel-related gene in progressive
            myoclonic epilepsy
  JOURNAL   Ann Neurol 61 (6), 579-586 (2007)
   PUBMED   17455289
  REMARK    GeneRIF: We found a C to T mutation in exon 2 of the potassium
            channel tetramerization domain containing 7 gene(KCTD7)in a
            progressive myoclonic epilepsy family affecting a highly conserved
            segment of the predicted protein changing an arginine codon to a
            stop.
REFERENCE   8  (bases 1 to 4869)
  AUTHORS   Choy,K.W., Wang,C.C., Ogura,A., Lau,T.K., Rogers,M.S., Ikeo,K.,
            Gojobori,T., Lam,D.S. and Pang,C.P.
  TITLE     Genomic annotation of 15,809 ESTs identified from pooled early
            gestation human eyes
  JOURNAL   Physiol Genomics 25 (1), 9-15 (2006)
   PUBMED   16368877
REFERENCE   9  (bases 1 to 4869)
  AUTHORS   Mole,S.E. and Williams,R.E.
  TITLE     Neuronal Ceroid-Lipofuscinoses - RETIRED CHAPTER, FOR HISTORICAL
            REFERENCE ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301601
REFERENCE   10 (bases 1 to 4869)
  AUTHORS   Klein,C., Lohmann,K., Marras,C. and Munchau,A.
  TITLE     Hereditary Dystonia Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301334
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC006001.2 and AK056631.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Mar 19, 2020 this sequence version replaced NM_153033.4.
            
            Summary: This gene encodes a member of the potassium channel
            tetramerization domain-containing protein family. Family members
            are identified on a structural basis and contain an amino-terminal
            domain similar to the T1 domain present in the voltage-gated
            potassium channel. Mutations in this gene have been associated with
            progressive myoclonic epilepsy-3. Alternative splicing results in
            multiple transcript variants.[provided by RefSeq, Jan 2011].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            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 :: SRR1803611.209964.1,
                                           SRR1660803.229393.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000639828.2/ ENSP00000492240.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-77                AC006001.2         51155-51231         c
            78-1402             AK056631.1         1-1325
            1403-4869           AC006001.2         37065-40531         c
FEATURES             Location/Qualifiers
     source          1..4869
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q11.21"
     gene            1..4869
                     /gene="KCTD7"
                     /gene_synonym="CLN14; EPM3"
                     /note="potassium channel tetramerization domain containing
                     7"
                     /db_xref="GeneID:154881"
                     /db_xref="HGNC:HGNC:21957"
                     /db_xref="MIM:611725"
     exon            1..328
                     /gene="KCTD7"
                     /gene_synonym="CLN14; EPM3"
                     /inference="alignment:Splign:2.1.0"
     CDS             185..1054
                     /gene="KCTD7"
                     /gene_synonym="CLN14; EPM3"
                     /note="isoform 1 is encoded by transcript variant 1;
                     BTB/POZ domain-containing protein KCTD7; potassium channel
                     tetramerisation domain containing 7"
                     /codon_start=1
                     /product="BTB/POZ domain-containing protein KCTD7 isoform
                     1"
                     /protein_id="NP_694578.1"
                     /db_xref="CCDS:CCDS5534.1"
                     /db_xref="GeneID:154881"
                     /db_xref="HGNC:HGNC:21957"
                     /db_xref="MIM:611725"
                     /translation="MVVVTGREPDSRRQDGAMSSSDAEDDFLEPATPTATQAGHALPL
                     LPQEFPEVVPLNIGGAHFTTRLSTLRCYEDTMLAAMFSGRHYIPTDSEGRYFIDRDGT
                     HFGDVLNFLRSGDLPPRERVRAVYKEAQYYAIGPLLEQLENMQPLKGEKVRQAFLGLM
                     PYYKDHLERIVEIARLRAVQRKARFAKLKVCVFKEEMPITPYECPLLNSLRFERSESD
                     GQLFEHHCEVDVSFGPWEAVADVYDLLHCLVTDLSAQGLTVDHQCIGVCDKHLVNHYY
                     CKRPIYEFKITWW"
     exon            329..498
                     /gene="KCTD7"
                     /gene_synonym="CLN14; EPM3"
                     /inference="alignment:Splign:2.1.0"
     exon            499..677
                     /gene="KCTD7"
                     /gene_synonym="CLN14; EPM3"
                     /inference="alignment:Splign:2.1.0"
     exon            678..4869
                     /gene="KCTD7"
                     /gene_synonym="CLN14; EPM3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4850..4855
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KCTD7"
                     /gene_synonym="CLN14; EPM3"
                     /note="hexamer: ATTAAA"
     polyA_site      4869
                     /gene="KCTD7"
                     /gene_synonym="CLN14; EPM3"
                     /note="major polyA site"
ORIGIN      
        1 agctgggcgc gagcgggtcg gcgttgaggg agccaccgcc ctcccgcctg cgcactgcct
       61 ctcgcccccc tccggccagc ccgcagccgg ccgcgtcatg ccaggcgctg ctcggcggta
      121 gggagtgccc ggggccgccg cctccgcccg cccgaagccg cgcccactgc ccagagccag
      181 agggatggtg gtagtcacgg ggcgggagcc agacagccgt cgtcaggacg gtgccatgtc
      241 cagctctgac gccgaagacg actttctgga gccggccacg ccgacggcca cgcaggcggg
      301 gcacgcgctg cccctgctgc cacaggagtt tcctgaggtt gttcccctta acatcggagg
      361 ggctcacttc actacacgcc tgtccacact gcggtgctac gaagacacca tgttggcagc
      421 catgttcagt gggcggcact acatccccac ggactccgag ggccggtact tcatcgaccg
      481 agatggcaca cactttggag atgtgctgaa tttcctgcgc tcaggggacc tcccacccag
      541 ggagcgtgtt cgagctgtgt acaaagaggc ccagtactat gccatcgggc ccctcctgga
      601 gcagctggag aacatgcagc cactgaaggg cgagaaggtg cgccaagcgt ttctgggact
      661 catgccctat tacaaagacc acttggagcg gattgtggag atcgcccggc tgcgtgcggt
      721 ccagcggaag gcccgctttg ccaagctcaa ggtctgtgtc ttcaaggagg agatgcccat
      781 caccccctat gagtgtccgc tcctcaactc cctgcgattt gagcggagtg agagtgacgg
      841 gcagcttttt gagcaccact gtgaagtgga tgtgtctttt gggccctggg aggctgtggc
      901 tgatgtttat gacctgctgc actgcctggt cacggacctc tcggcccagg gtctcaccgt
      961 ggaccaccag tgcatcgggg tgtgtgacaa gcacctcgtg aaccactact actgcaagcg
     1021 ccccatctat gagttcaaga tcacatggtg gtgagtagcc ccggtaggcg agagtcccat
     1081 cagggaggat gtccaccttg cttggtggct ctgggagtaa gatccctgaa ggggctgctg
     1141 actgccccag aatctgccga ggtgagaaca gcatcctgag gcacagctcc caggggacag
     1201 aggtgtagct ccaatctccc tgactgcacc tcagggttgg gctcagggct tgcggcctgc
     1261 aggcactcca gccagcgctc acctggcctt tcctcaaggc atggtagtct ttccttgagg
     1321 ctgatagcta gggcttgacc aggaagtccc gagaagtttt gtcaccttct tgaccttgca
     1381 agagagtttc tgcccatttt agagccacgt taccaaatcg atgtaggcct aatcacttcc
     1441 tcaaccctgt tcaagcgtcc ctcccttgtg ctcagtatat tggtgtgaac acggaacatg
     1501 atgggggatt tacctgacca gccaccccat agcccctggc tgaagaagaa agagcatctt
     1561 ctctcccact gcaccccttc tcctccaaga atagttgccc acattcccaa aatgtggaaa
     1621 gacttttctt ttccttccgg aacatgttct tcaccacctt ttggagattt aaccatagct
     1681 gccaaagcta tgcacccagt tggccttaga aaaccacaat gtttacagcc ctgtcttagg
     1741 gccgcggctt ctcttatctt ccaccacctt ccttgcttgc agggttatct tctcacaggg
     1801 ctggaatgca aatttcagag gcttcttttg aagattcccc aagtcaagca ggcaagatgc
     1861 ctagatcttc tgttatcttt gacatgtaac atccttttta gaggctcaga acacctcctt
     1921 ggctgctatc tcatgtgtta gaatccagtt tgtggtgaac ctctttggaa ggggaccccc
     1981 tctctttaaa ccctgttcct ctgtcctggt aacattctcc ttctaggaga gcctctcttc
     2041 tgagaaggta aaggaagggc tgggtgagac acacagctat cctaggagcc gtaggaagac
     2101 aaaacttccc ttttgtttta ctcctcactc ctctattttt gttttactca cttctttata
     2161 ttttgtttta ctcctcactc ctgtatattt tggtttactt actcctctat ttcagaaatt
     2221 gaaaaagatc cccaaggatc tgttactact gcatttcctt cttgctctgt ctacagccta
     2281 ggccaactag tcagggtctg gacatgcatc tcctaaagga agaactgtgt agcaccattg
     2341 atcacaatgt aacatttcca tgctgcatta agggtgtctc tctctaatca tgattgtacc
     2401 tgtctcttcc tgggtaaagg gagatttttt tttttaatgt gtaaagaatt gatgcgagcc
     2461 aggaacatgt ctgtagtccc agctacttgg gcacacgcct gtagtccagg ccactcgagc
     2521 acacacctgt agtaccagct actctggagg ctgaggcagg aggatcactt gagcccagga
     2581 gattaagact gtagtatact atgatcgtgc ctgtggctag ccactgtgct ccagcctggg
     2641 caacaccatc gtaaaaataa ataaataaat aaataaattg gggaggacag cctcactggt
     2701 atcagactta caggaccaga tagacaagat gggtataagg ggagctgaag tctgtgttca
     2761 tatgaggaag agaagaccaa gccctgggac tttggctgaa ttcctccgtg gggctggacg
     2821 gcagtgatct cctgttccct atgtgtaaac aaagattcca gggcgtggtt ttgcactcct
     2881 gttgtactct tttagaggtg gaaaagaggt ggatactgag atctaagagg aaaggatagt
     2941 cattcacgtt ctgagatatg cgctctctct attgttctcg tacacaaagg gatagtctct
     3001 tttctggagc tgatgtccct gcttggaggt tagccccaaa acatggctct tgtattgttc
     3061 taagagaaaa ggctttcatt ttggttcttc tgattggtgt tacctactgc ctaatatgtg
     3121 ttcatttttt gacagagagg cagactattg aaaaagtctg tgtgaacaga gagcagttca
     3181 ttaagcccat tgctttcagt aatgtggcct tgaccccttc tgcttccccc ttctcccatg
     3241 gagcatggca gggcttggtt atttagagtc catacatgca agccattgag agacttgttt
     3301 gctcaaatgc aagtttgctc aaaaacaggt cctgaaggct tgcttaggat tacagggatg
     3361 ctgggtaaga acaccgttcc tctctctcgc tggagaaatc cctgtttctc tgactccctt
     3421 tgtgatcctc acagtaatgt attctgtgcc actgtaggac acaaggctct gggccagtag
     3481 aacaggcaga gaggtgacac tgggcagcaa gctgagagct ctttctaaat ggagtgaagg
     3541 aattcagtgg cctagtttcg ccattctcta atgagaaacc aaggccaggc tgaaaagtgc
     3601 aattagatgt ggtggattgt ggtaacggcc tccagataaa ggggttatcc ctgtggaagt
     3661 gacttttccc catttgatcc cttttcaact ctaaatggcc aggcccagaa cagaagaagg
     3721 gttgggtctg gaaggaaggc tccaaaggat gaaagcttct ccctgatcat aaggaagtgc
     3781 atctttatag aattgttgtg cataatgtca gtaaatccct ctcacttgac aagggactgg
     3841 attcatcttg ccttgagacg ggccagtagt tatcagtgag tcaaagcaaa gtgaaagttt
     3901 caggagatgg gaccaatggt gcaatgctcg ccataacaaa attccttaaa aataaaaaag
     3961 ctaatgttat agcaacaaaa aaagactgaa gcaaaaccac actgaaatgc atcccactcc
     4021 aggagaggaa ttcttagcgt aacactctaa ataaatggaa ggaatcatca ccttccttat
     4081 tttacctctg ccttgttcac caggctgccc agtgcttacc atgcagaaag cagtcagctg
     4141 tactctggaa gtttctgttc ttctttcctg gggcttagga tattctggga gctgtctgag
     4201 ccttgtgcct aaggcttatc aggtgatata atcttcctgt tctgggctgc ttgctggagg
     4261 aataggaagt gacatttata agacacaggc ggtgtgagca tccatgtgtg gtcttggtct
     4321 aaaccagctc ttgaacaggt taaagcaaac agcaataaca aaacaaaaac tactgatgct
     4381 gagcgttttg atcctagtaa tatttcaaat attgtccttc tgcatatgtt ctatccatat
     4441 ttgattccaa tatacattat taagctttct tgggtactat tttgctgggg ctcttgcgtg
     4501 aaggtggtac ctgtctcatg atccttaaaa gagagaggct tttttcatcc aaagctgtag
     4561 tgttgggaac tggggtggga gaggcacttt ttggaattct gaaagaatca tatctgtgta
     4621 tatacatact gagtggggaa ggatgggggt tggcaggggt tgagggaggt gggaacaaac
     4681 agtgagtatg ggaacaggca gtcacctcga gtgtgggagg tcacctgggt ccgtcgtctt
     4741 ccttctgtat ggtgttgggt ttatgtacac actataacac ttcctgtgtg agttcatgta
     4801 cctgtctgtg agtgctttgg tgtattgagc ctcagtacac tccaagggca ttaaagtcaa
     4861 gaactagaa
//
