LOCUS       NM_001128214            1555 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens potassium channel tetramerization domain containing 6
            (KCTD6), transcript variant 2, mRNA.
ACCESSION   NM_001128214
VERSION     NM_001128214.2
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 1555)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   2  (bases 1 to 1555)
  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   3  (bases 1 to 1555)
  AUTHORS   Fragoza,R., Das,J., Wierbowski,S.D., Liang,J., Tran,T.N., Liang,S.,
            Beltran,J.F., Rivera-Erick,C.A., Ye,K., Wang,T.Y., Yao,L., Mort,M.,
            Stenson,P.D., Cooper,D.N., Wei,X., Keinan,A., Schimenti,J.C.,
            Clark,A.G. and Yu,H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1555)
  AUTHORS   Chen,S., Fragoza,R., Klei,L., Liu,Y., Wang,J., Roeder,K., Devlin,B.
            and Yu,H.
  TITLE     An interactome perturbation framework prioritizes damaging missense
            mutations for developmental disorders
  JOURNAL   Nat Genet 50 (7), 1032-1040 (2018)
   PUBMED   29892012
REFERENCE   5  (bases 1 to 1555)
  AUTHORS   Stockum,A., Snijders,A.P. and Maertens,G.N.
  TITLE     USP11 deubiquitinates RAE1 and plays a key role in bipolar spindle
            formation
  JOURNAL   PLoS One 13 (1), e0190513 (2018)
   PUBMED   29293652
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1555)
  AUTHORS   Sahni,N., Yi,S., Taipale,M., Fuxman Bass,J.I.,
            Coulombe-Huntington,J., Yang,F., Peng,J., Weile,J., Karras,G.I.,
            Wang,Y., Kovacs,I.A., Kamburov,A., Krykbaeva,I., Lam,M.H.,
            Tucker,G., Khurana,V., Sharma,A., Liu,Y.Y., Yachie,N., Zhong,Q.,
            Shen,Y., Palagi,A., San-Miguel,A., Fan,C., Balcha,D., Dricot,A.,
            Jordan,D.M., Walsh,J.M., Shah,A.A., Yang,X., Stoyanova,A.K.,
            Leighton,A., Calderwood,M.A., Jacob,Y., Cusick,M.E.,
            Salehi-Ashtiani,K., Whitesell,L.J., Sunyaev,S., Berger,B.,
            Barabasi,A.L., Charloteaux,B., Hill,D.E., Hao,T., Roth,F.P.,
            Xia,Y., Walhout,A.J.M., Lindquist,S. and Vidal,M.
  TITLE     Widespread macromolecular interaction perturbations in human
            genetic disorders
  JOURNAL   Cell 161 (3), 647-660 (2015)
   PUBMED   25910212
REFERENCE   7  (bases 1 to 1555)
  AUTHORS   Pirone,L., Esposito,C., Correale,S., Graziano,G., Di Gaetano,S.,
            Vitagliano,L. and Pedone,E.
  TITLE     Thermal and chemical stability of two homologous POZ/BTB domains of
            KCTD proteins characterized by a different oligomeric organization
  JOURNAL   Biomed Res Int 2013, 162674 (2013)
   PUBMED   24307990
  REMARK    GeneRIF: A biophysical characterization of the POZ/BTB of KCTD6, is
            reported.
REFERENCE   8  (bases 1 to 1555)
  AUTHORS   Lange,S., Perera,S., Teh,P. and Chen,J.
  TITLE     Obscurin and KCTD6 regulate cullin-dependent small ankyrin-1
            (sAnk1.5) protein turnover
  JOURNAL   Mol Biol Cell 23 (13), 2490-2504 (2012)
   PUBMED   22573887
  REMARK    GeneRIF: Obscurin and KCTD6 regulate cullin-dependent small
            ankyrin-1 (sAnk1.5) protein turnover
REFERENCE   9  (bases 1 to 1555)
  AUTHORS   De Smaele,E., Di Marcotullio,L., Moretti,M., Pelloni,M.,
            Occhione,M.A., Infante,P., Cucchi,D., Greco,A., Pietrosanti,L.,
            Todorovic,J., Coni,S., Canettieri,G., Ferretti,E., Bei,R.,
            Maroder,M., Screpanti,I. and Gulino,A.
  TITLE     Identification and characterization of KCASH2 and KCASH3, 2 novel
            Cullin3 adaptors suppressing histone deacetylase and Hedgehog
            activity in medulloblastoma
  JOURNAL   Neoplasia 13 (4), 374-385 (2011)
   PUBMED   21472142
  REMARK    GeneRIF: Rescuing KCASHs expression reduces the Hedgehog-dependent
            medulloblastoma growth, suggesting that loss of members of this
            novel family of native HDAC inhibitors is crucial in sustaining Hh
            pathway-mediated tumorigenesis.
REFERENCE   10 (bases 1 to 1555)
  AUTHORS   Bennett,E.J., Rush,J., Gygi,S.P. and Harper,J.W.
  TITLE     Dynamics of cullin-RING ubiquitin ligase network revealed by
            systematic quantitative proteomics
  JOURNAL   Cell 143 (6), 951-965 (2010)
   PUBMED   21145461
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA359951.1, BC022893.1 and AA721100.1.
            
            On Nov 23, 2018 this sequence version replaced NM_001128214.1.
            
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. Variants 1 and 2 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 :: SRR3476690.310628.1,
                                           SRR3476690.415114.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000404589.8/ ENSP00000384948.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-149               DA359951.1         1-149
            150-1526            BC022893.1         166-1542
            1527-1548           BC022893.1         1544-1565
            1549-1555           AA721100.1         12-18               c
FEATURES             Location/Qualifiers
     source          1..1555
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p14.3"
     gene            1..1555
                     /gene="KCTD6"
                     /gene_synonym="KCASH3"
                     /note="potassium channel tetramerization domain containing
                     6"
                     /db_xref="GeneID:200845"
                     /db_xref="HGNC:HGNC:22235"
                     /db_xref="MIM:618791"
     exon            1..74
                     /gene="KCTD6"
                     /gene_synonym="KCASH3"
                     /inference="alignment:Splign:2.1.0"
     exon            75..144
                     /gene="KCTD6"
                     /gene_synonym="KCASH3"
                     /inference="alignment:Splign:2.1.0"
     CDS             118..831
                     /gene="KCTD6"
                     /gene_synonym="KCASH3"
                     /note="potassium channel tetramerisation domain containing
                     6; potassium channel tetramerization domain-containing
                     protein 6"
                     /codon_start=1
                     /product="BTB/POZ domain-containing protein KCTD6"
                     /protein_id="NP_001121686.1"
                     /db_xref="CCDS:CCDS2891.1"
                     /db_xref="GeneID:200845"
                     /db_xref="HGNC:HGNC:22235"
                     /db_xref="MIM:618791"
                     /translation="MDNGDWGYMMTDPVTLNVGGHLYTTSLTTLTRYPDSMLGAMFGG
                     DFPTARDPQGNYFIDRDGPLFRYVLNFLRTSELTLPLDFKEFDLLRKEADFYQIEPLI
                     QCLNDPKPLYPMDTFEEVVELSSTRKLSKYSNPVAVIITQLTITTKVHSLLEGISNYF
                     TKWNKHMMDTRDCQVSFTFGPCDYHQEVSLRVHLMEYITKQGFTIRNTRVHHMSERAN
                     ENTVEHNWTFCRLARKTDD"
     exon            145..1555
                     /gene="KCTD6"
                     /gene_synonym="KCASH3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1534..1539
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KCTD6"
                     /gene_synonym="KCASH3"
                     /note="hexamer: AATAAA"
     polyA_site      1555
                     /gene="KCTD6"
                     /gene_synonym="KCASH3"
                     /note="major polyA site"
ORIGIN      
        1 gcttgtcccc gcgctcgcgc tctccggccg cgggcatctc ccggcccggc cgcagcagcc
       61 gccgccgccg cgcatttccc tgaaacctgg gctcttgaag acgcatcact ggagcagatg
      121 gataatggag actggggcta tatgatgact gacccagtca cattaaatgt aggtggacac
      181 ttgtatacaa cgtctctcac cacattgacg cgttacccgg attccatgct tggagctatg
      241 tttggggggg acttccccac agctcgagac cctcaaggca attactttat tgatcgagat
      301 ggacctcttt tccgatatgt cctcaacttc ttaagaactt cagaattgac cttaccgttg
      361 gattttaagg aatttgatct gcttcggaaa gaagcagatt tttaccagat tgagcccttg
      421 attcagtgtc tcaatgatcc taagcctttg tatcccatgg atacttttga agaagttgtg
      481 gagctgtcta gtactcggaa gctttctaag tactccaacc cagtggctgt catcataacg
      541 caactaacca tcaccactaa ggtccattcc ttactagaag gcatctcaaa ttattttacc
      601 aagtggaata agcacatgat ggacaccaga gactgccagg tttcctttac ttttggaccc
      661 tgtgattatc accaggaagt ttctcttagg gtccacctga tggaatacat tacaaaacaa
      721 ggtttcacga tccgcaacac ccgggtgcat cacatgagtg agcgggccaa tgaaaacaca
      781 gtggagcaca actggacttt ctgtaggcta gcccggaaga cagacgactg atctccgacc
      841 ctgccacagg ttcctggaaa gactctccag gaaatggaag atactgattt ttttttttaa
      901 atcacagtgt gagatatttt ttttctttta aatagttgta tttatttgaa ggcagtgagg
      961 accagaagga agttttgtgc tttggcagac tcctccatgt tttgttccct tccccctgag
     1021 tatgcatgtg cctgttcaga gtctccagat acctttttta taaaaagaag tctgaaaatc
     1081 attatggtat ataatctacc cttaacagag cttttcttat tacagtgcta aaatgatttc
     1141 tgataaaatg gtccctaact caactagaag gctaaaaata caagaatgaa agaataagca
     1201 gagtactcat gatgcctttg agaaaaatca aaacatcatg tagggtgacc tagtttccaa
     1261 accaataaat aagtagtatt gtaatattaa aggaaaactg ttccaatcat ttaaaagtac
     1321 ttattaagta ctgcttttta cagttatgac aactgtttct ttctatgcat ataaatcaag
     1381 gaaccaaata tctgtagcca tggaaatgtc tgactagaaa tatttatatt gaattctgaa
     1441 tacaaaatgt ccctgtggta gaaaacttac tctttatgcc tggtgcagta taattcccaa
     1501 gtgtactgtc taccagaaaa aaaaaacaaa actaataaaa aatgaaatat gaaaa
//
