LOCUS       NM_002235               3985 bp    mRNA    linear   PRI 22-SEP-2024
DEFINITION  Homo sapiens potassium voltage-gated channel subfamily A member 6
            (KCNA6), transcript variant 4, mRNA.
ACCESSION   NM_002235
VERSION     NM_002235.5
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 3985)
  AUTHORS   Salpietro,V., Galassi Deforie,V., Efthymiou,S., O'Connor,E.,
            Marce-Grau,A., Maroofian,R., Striano,P., Zara,F., Morrow,M.M.,
            Reich,A., Blevins,A., Sala-Coromina,J., Accogli,A., Fortuna,S.,
            Alesandrini,M., Au,P.Y.B., Singhal,N.S., Cogne,B., Isidor,B.,
            Hanna,M.G., Macaya,A., Kullmann,D.M., Houlden,H. and Mannikko,R.
  CONSRTM   SYNAPS Study Group
  TITLE     De novo KCNA6 variants with attenuated KV 1.6 channel deactivation
            in patients with epilepsy
  JOURNAL   Epilepsia 64 (2), 443-455 (2023)
   PUBMED   36318112
  REMARK    GeneRIF: De novo KCNA6 variants with attenuated KV 1.6 channel
            deactivation in patients with epilepsy.
REFERENCE   2  (bases 1 to 3985)
  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   3  (bases 1 to 3985)
  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   4  (bases 1 to 3985)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Paulo,J.A., Cannon,J.R., Ting,L.,
            Baltier,K., Colby,G., Gebreab,F., Gygi,M.P., Parzen,H., Szpyt,J.,
            Tam,S., Zarraga,G., Pontano-Vaites,L., Swarup,S., White,A.E.,
            Schweppe,D.K., Rad,R., Erickson,B.K., Obar,R.A., Guruharsha,K.G.,
            Li,K., Artavanis-Tsakonas,S., Gygi,S.P. and Harper,J.W.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   5  (bases 1 to 3985)
  AUTHORS   Naranjo,D., Moldenhauer,H., Pincuntureo,M. and Diaz-Franulic,I.
  TITLE     Pore size matters for potassium channel conductance
  JOURNAL   J Gen Physiol 148 (4), 277-291 (2016)
   PUBMED   27619418
  REMARK    Review article
REFERENCE   6  (bases 1 to 3985)
  AUTHORS   Yusifov,T., Savalli,N., Gandhi,C.S., Ottolia,M. and Olcese,R.
  TITLE     The RCK2 domain of the human BKCa channel is a calcium sensor
  JOURNAL   Proc Natl Acad Sci U S A 105 (1), 376-381 (2008)
   PUBMED   18162557
  REMARK    GeneRIF: analysis of how the RCK2 domain of the human BKCa channel
            is a calcium sensor
REFERENCE   7  (bases 1 to 3985)
  AUTHORS   Gutman,G.A., Chandy,K.G., Grissmer,S., Lazdunski,M., McKinnon,D.,
            Pardo,L.A., Robertson,G.A., Rudy,B., Sanguinetti,M.C., Stuhmer,W.
            and Wang,X.
  TITLE     International Union of Pharmacology. LIII. Nomenclature and
            molecular relationships of voltage-gated potassium channels
  JOURNAL   Pharmacol Rev 57 (4), 473-508 (2005)
   PUBMED   16382104
  REMARK    Review article
REFERENCE   8  (bases 1 to 3985)
  AUTHORS   Guihard,G., Bellocq,C., Grelet,E. and Escande,D.
  TITLE     Human Kv1.6 current displays a C-type-like inactivation when
            re-expressed in cos-7 cells
  JOURNAL   Biochem Biophys Res Commun 311 (1), 83-89 (2003)
   PUBMED   14575698
REFERENCE   9  (bases 1 to 3985)
  AUTHORS   Albrecht,B., Weber,K. and Pongs,O.
  TITLE     Characterization of a voltage-activated K-channel gene cluster on
            human chromosome 12p13
  JOURNAL   Recept Channels 3 (3), 213-220 (1995)
   PUBMED   8821794
REFERENCE   10 (bases 1 to 3985)
  AUTHORS   Grupe,A., Schroter,K.H., Ruppersberg,J.P., Stocker,M., Drewes,T.,
            Beckh,S. and Pongs,O.
  TITLE     Cloning and expression of a human voltage-gated potassium channel.
            A novel member of the RCK potassium channel family
  JOURNAL   EMBO J 9 (6), 1749-1756 (1990)
   PUBMED   2347305
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC005833.1.
            
            On Jun 23, 2021 this sequence version replaced NM_002235.4.
            
            Summary: Potassium channels represent the most complex class of
            voltage-gated ion channels from both functional and structural
            standpoints. Their diverse functions include regulating
            neurotransmitter release, heart rate, insulin secretion, neuronal
            excitability, epithelial electrolyte transport, smooth muscle
            contraction, and cell volume. Four sequence-related potassium
            channel genes - shaker, shaw, shab, and shal - have been identified
            in Drosophila, and each has been shown to have human homolog(s).
            This gene encodes a member of the potassium channel, voltage-gated,
            shaker-related subfamily. This member contains six
            membrane-spanning domains with a shaker-type repeat in the fourth
            segment. It belongs to the delayed rectifier class. The coding
            region of this gene is intronless, and the gene is clustered with
            genes KCNA1 and KCNA5 on chromosome 12. [provided by RefSeq, Jul
            2008].
            
            Transcript Variant: This variant (4) represents the protein-coding
            transcript.
            
            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 is intronless :: X17622.1, BC069355.1 [ECO:0000345]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000280684.4/ ENSP00000280684.3
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-3985              AC005833.1         114436-118420
FEATURES             Location/Qualifiers
     source          1..3985
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12p13.32"
     gene            1..3985
                     /gene="KCNA6"
                     /gene_synonym="HBK2; KV1.6; PPP1R96"
                     /note="potassium voltage-gated channel subfamily A member
                     6"
                     /db_xref="GeneID:3742"
                     /db_xref="HGNC:HGNC:6225"
                     /db_xref="MIM:176257"
     exon            1..3985
                     /gene="KCNA6"
                     /gene_synonym="HBK2; KV1.6; PPP1R96"
                     /inference="alignment:Splign:2.1.0"
     CDS             709..2298
                     /gene="KCNA6"
                     /gene_synonym="HBK2; KV1.6; PPP1R96"
                     /note="voltage-gated potassium channel protein Kv1.6;
                     human brain potassium channel-2; protein phosphatase 1,
                     regulatory subunit 96; potassium voltage-gated channel,
                     shaker-related subfamily, member 6; voltage-gated
                     potassium channel HBK2; voltage-gated potassium channel
                     subunit Kv1.6; potassium channel, voltage gated shaker
                     related subfamily A, member 6"
                     /codon_start=1
                     /product="potassium voltage-gated channel subfamily A
                     member 6"
                     /protein_id="NP_002226.1"
                     /db_xref="CCDS:CCDS8534.1"
                     /db_xref="GeneID:3742"
                     /db_xref="HGNC:HGNC:6225"
                     /db_xref="MIM:176257"
                     /translation="MRSEKSLTLAAPGEVRGPEGEQQDAGDFPEAGGGGGCCSSERLV
                     INISGLRFETQLRTLSLFPDTLLGDPGRRVRFFDPLRNEYFFDRNRPSFDAILYYYQS
                     GGRLRRPVNVPLDIFLEEIRFYQLGDEALAAFREDEGCLPEGGEDEKPLPSQPFQRQV
                     WLLFEYPESSGPARGIAIVSVLVILISIVIFCLETLPQFRVDGRGGNNGGVSRVSPVS
                     RGSQEEEEDEDDSYTFHHGITPGEMGTGGSSSLSTLGGSFFTDPFFLVETLCIVWFTF
                     ELLVRFSACPSKPAFFRNIMNIIDLVAIFPYFITLGTELVQQQEQQPASGGGGQNGQQ
                     AMSLAILRVIRLVRVFRIFKLSRHSKGLQILGKTLQASMRELGLLIFFLFIGVILFSS
                     AVYFAEADDDDSLFPSIPDAFWWAVVTMTTVGYGDMYPMTVGGKIVGSLCAIAGVLTI
                     ALPVPVIVSNFNYFYHRETEQEEQGQYTHVTCGQPAPDLRATDNGLGKPDFPEANRER
                     RPSYLPTPHRAYAEKRMLTEV"
ORIGIN      
        1 agagcggaga gccgagccgc tgcagctgcg gcggcggcag cgaagccttg agccgtgggg
       61 aggtgggtcc ccgcgctcgg gcgccggggc agccccgggc cctctgcgag gcctgcggcg
      121 cggctcctag ggaggaggtg gcggctgtgg cggccggaac cgcgaccttg gccggaccca
      181 gccccgcggt ggacgcaggg cggaggccga gccccgccag gagtctttgc cgagccggag
      241 ggaggcgcat ctggcgcttc ggtaccagcg gcagccgggg gtccggagcg gctggaggag
      301 cgcagtggga actgggaaga gctagcccgg ctggagggcg gacctctgcg tccgggagcc
      361 gggtctcagg caccgctggg ggcgaagcca cgcgtctttt cgggcagcca atttcacacg
      421 cgcctgtgtg cggttccggg catcccagta agctctagca cccgggcgcg ggtaacggga
      481 agcgcagaac caaatcccca gcgcccaggt cacctcccca gacccagcct tgcagggacc
      541 agggctttag ggctcacgga cccaacggcc aggtcagacc gcgaaccggg aggagcgcgg
      601 gccccaccct aaagagggcg cagccgggag ctggggagcg ggtgccgcgc tccagagatt
      661 gtgtcgtggg cgccgtccta gtggcgggga gcgcacctcc gagggggcat gagatcggag
      721 aaatccctta cgctggcggc gccgggggag gtccgtgggc cggagggaga gcaacaggat
      781 gcgggagact tcccggaggc cggcgggggc gggggctgct gtagtagcga gcggctggtg
      841 atcaatatct ccgggctgcg ctttgagaca caattgcgca ccctgtcgct gtttccggac
      901 acgctgctcg gagaccctgg ccggcgagtc cgcttcttcg accccctgag gaacgagtac
      961 ttcttcgacc gcaaccggcc cagcttcgac gccatcctct actactacca gtctgggggc
     1021 cgcctgcgga ggccggtcaa cgtgcccctg gacattttcc tggaggagat ccgcttctac
     1081 cagctggggg acgaggccct ggcggccttc cgggaggacg agggctgcct gcccgaaggt
     1141 ggcgaggacg agaagccgct gccctcccag cccttccagc gccaggtgtg gctgctcttt
     1201 gagtacccag agagctctgg gccggccagg ggcatcgcca tcgtctccgt gttggtcatt
     1261 ctcatctcca tagtcatctt ttgcctggag accttacccc agttccgtgt agatggtcga
     1321 ggtggaaaca atggtggtgt gagtcgagtc tccccagttt ccagggggag tcaggaggaa
     1381 gaggaggatg aagacgattc ctacacattt catcatggca tcacccctgg ggaaatgggg
     1441 accgggggct cctcctcact cagtactctt gggggctcct tctttacaga ccccttcttt
     1501 ctggtggaga cgctgtgcat tgtctggttc acttttgagc tcctggtgcg cttctccgcc
     1561 tgccctagca agccggcctt cttccggaac atcatgaaca tcattgactt ggtggctatc
     1621 ttcccctact tcatcaccct gggcactgag ctggtgcagc agcaggagca gcaaccagcc
     1681 agtggaggag gcggccagaa tgggcagcag gccatgtccc tggccatcct ccgagtcatc
     1741 cgcctggtcc gggtgttccg catcttcaag ctctcccgcc actccaaggg gctgcagatc
     1801 ctgggcaaga ccttgcaggc ctccatgagg gagctggggc tgctcatctt cttcctcttc
     1861 atcggggtca tcctcttctc cagtgccgtc tacttcgcag aggctgacga tgacgattcg
     1921 ctttttccca gcatcccgga tgccttctgg tgggcagtgg ttacaatgac cacggtaggt
     1981 tacggggaca tgtaccccat gactgtgggg ggaaagatcg tgggctcgct gtgtgccatc
     2041 gctggggtcc tcaccattgc cctgcctgtg cccgtcatcg tctccaactt caactacttc
     2101 taccaccggg agacggagca ggaggagcaa ggccagtata cccacgtcac ttgtgggcag
     2161 cctgcgccgg acctgagggc aactgacaac ggacttggca agcctgactt ccccgaggct
     2221 aaccgggaac ggagacccag ctaccttcct acaccacatc gggcctatgc agagaaaaga
     2281 atgctcacgg aggtctgacc catgcaggca gggcctgcag gaggggagca ctgagctaac
     2341 agtctcttag gcttccttct catttccact actcactcta gcttcagttg acttcttgac
     2401 tctctcccct acacccacta cctggcatcc aggaccaaat acctggacta tcaaccttgt
     2461 tgcttaatcc ctgcagcatt caaggttaat ccatctaagt gacatttttg aaattccagc
     2521 ggtgccaccc aatcatgccc agcttctgtc atatgaatga gatatacatt tatgtctgac
     2581 cttccctcaa gactgatttt tcatgtctgg gacttacaat atctcaagga acagcaatgt
     2641 caacaggatg gaaaccagcc ctatctgagt cttcgctccc tccttagtgt tctttgcttt
     2701 gggtcatgtg cgtttcctag cttcaggcta cttggtaact ggaagaagct ggaggacaga
     2761 agcagtactc aacttgctgt tattccagtg ccctgtaaca atcactggtc ctcctgcaga
     2821 tgacccttgg tagagtcttt atttgcatag cctcaaaata ggttattcgt ttctaaactt
     2881 ggatggaatt agagaataca atcaaacttt accacttgga ggacacgggg ttagtccagg
     2941 accaaagagg ccaatggatt tttcaaagtg tgccccagca caagaggcac tggtgttcgg
     3001 tctacattta gttctcccca ctctgatccc ctgactctcc agcttccagg aaggttcctt
     3061 ctcagagcca aatactcttt gtgcaagtgc cttcctgagc agaagaactg gagaaaggga
     3121 accacagagc caggaggaat gtctgagcag agtcaagcaa ctggcttgac cacagtctga
     3181 agcaaggtgc cacttaaaca gatactgttt tctcaaaggg gcagaggaat cgtgttgcag
     3241 atggcagcct tttctccttc attttcccca cattttctct ggccctctac cttgcttcct
     3301 gggagtttga tttaggattg ctgttgaagg cttcctcagg caaactccag cttaaagccc
     3361 tagacaggta aaagcacaca ttggatggca gcatgggttt cttcccattt tatgggcatg
     3421 aaatatgtgg tttagaataa ggaacaagca ttattccttt gccaacagcc tcactctaag
     3481 aggctttttt gctgagtcaa gcaaacactt gcctgctctg ccccttggag ctgcatttga
     3541 cctgctctca ctggtaaggt gacttggtgg cgttcccact tgatttagcc attttcttcc
     3601 attgtgagac cactgccatc tatccacctg cccacctccc cttttgtttc tcagtaacat
     3661 tgccatttgt tttttgcctt tgataaactg tgatgtactg ttctgagatc ttttgggtgc
     3721 agttctgaaa ctgaaaggac tgttaacatg tttttaattt tatatctatg ctttcagact
     3781 ctttgatgat aatttttttt ttaaaaatta ttctctcgaa gagcaactta cgagaggaca
     3841 gccttatgag ggtttgcttg agaggcagtg tggcttctgt gactgccagc tctaaatctc
     3901 gatcttgcca taactttaca gggtaacttg ggtccacagt cactctttgt gcctcagttt
     3961 acccacccat taaatgggaa catta
//
