LOCUS       NM_001112741            4303 bp    mRNA    linear   PRI 05-AUG-2024
DEFINITION  Homo sapiens potassium voltage-gated channel subfamily C member 1
            (KCNC1), transcript variant 1, mRNA.
ACCESSION   NM_001112741
VERSION     NM_001112741.2
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 4303)
  AUTHORS   Clatot,J., Ginn,N., Costain,G. and Goldberg,E.M.
  TITLE     A KCNC1-related neurological disorder due to gain of Kv3.1 function
  JOURNAL   Ann Clin Transl Neurol 10 (1), 111-117 (2023)
   PUBMED   36419348
  REMARK    GeneRIF: A KCNC1-related neurological disorder due to gain of Kv3.1
            function.
REFERENCE   2  (bases 1 to 4303)
  AUTHORS   Chi,G., Liang,Q., Sridhar,A., Cowgill,J.B., Sader,K., Radjainia,M.,
            Qian,P., Castro-Hartmann,P., Venkaya,S., Singh,N.K., McKinley,G.,
            Fernandez-Cid,A., Mukhopadhyay,S.M.M., Burgess-Brown,N.A.,
            Delemotte,L., Covarrubias,M. and Durr,K.L.
  TITLE     Cryo-EM structure of the human Kv3.1 channel reveals gating control
            by the cytoplasmic T1 domain
  JOURNAL   Nat Commun 13 (1), 4087 (2022)
   PUBMED   35840580
  REMARK    GeneRIF: Cryo-EM structure of the human Kv3.1 channel reveals
            gating control by the cytoplasmic T1 domain.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 4303)
  AUTHORS   Maatoug,S., Cheikh,A., Khamessi,O., Tabka,H., Landoulsi,Z.,
            Guigonis,J.M., Diochot,S., Bendahhou,S. and Benkhalifa,R.
  TITLE     Cross Pharmacological, Biochemical and Computational Studies of a
            Human Kv3.1b Inhibitor from Androctonus australis Venom
  JOURNAL   Int J Mol Sci 22 (22), 12290 (2021)
   PUBMED   34830172
  REMARK    GeneRIF: Cross Pharmacological, Biochemical and Computational
            Studies of a Human Kv3.1b Inhibitor from Androctonus australis
            Venom.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 4303)
  AUTHORS   Zhang,Y., Ali,S.R., Nabbout,R., Barcia,G. and Kaczmarek,L.K.
  TITLE     A KCNC1 mutation in epilepsy of infancy with focal migrating
            seizures produces functional channels that fail to be regulated by
            PKC phosphorylation
  JOURNAL   J Neurophysiol 126 (2), 532-539 (2021)
   PUBMED   34232791
  REMARK    GeneRIF: A KCNC1 mutation in epilepsy of infancy with focal
            migrating seizures produces functional channels that fail to be
            regulated by PKC phosphorylation.
REFERENCE   5  (bases 1 to 4303)
  AUTHORS   Chen,S., Xiao,L., Peng,H., Wang,Z. and Xie,J.
  TITLE     Methylation gene KCNC1 is associated with overall survival in
            patients with seminoma
  JOURNAL   Oncol Rep 45 (5) (2021)
   PUBMED   34105734
  REMARK    GeneRIF: Methylation gene KCNC1 is associated with overall survival
            in patients with seminoma.
REFERENCE   6  (bases 1 to 4303)
  AUTHORS   Ottschytsch,N., Raes,A., Van Hoorick,D. and Snyders,D.J.
  TITLE     Obligatory heterotetramerization of three previously
            uncharacterized Kv channel alpha-subunits identified in the human
            genome
  JOURNAL   Proc Natl Acad Sci U S A 99 (12), 7986-7991 (2002)
   PUBMED   12060745
REFERENCE   7  (bases 1 to 4303)
  AUTHORS   Xu,J., Yu,W., Jan,Y.N., Jan,L.Y. and Li,M.
  TITLE     Assembly of voltage-gated potassium channels. Conserved hydrophilic
            motifs determine subfamily-specific interactions between the
            alpha-subunits
  JOURNAL   J Biol Chem 270 (42), 24761-24768 (1995)
   PUBMED   7559593
REFERENCE   8  (bases 1 to 4303)
  AUTHORS   Ried,T., Rudy,B., Vega-Saenz de Miera,E., Lau,D., Ward,D.C. and
            Sen,K.
  TITLE     Localization of a highly conserved human potassium channel gene
            (NGK2-KV4; KCNC1) to chromosome 11p15
  JOURNAL   Genomics 15 (2), 405-411 (1993)
   PUBMED   8449507
REFERENCE   9  (bases 1 to 4303)
  AUTHORS   Grissmer,S., Ghanshani,S., Dethlefs,B., McPherson,J.D.,
            Wasmuth,J.J., Gutman,G.A., Cahalan,M.D. and Chandy,K.G.
  TITLE     The Shaw-related potassium channel gene, Kv3.1, on human chromosome
            11, encodes the type l K+ channel in T cells
  JOURNAL   J Biol Chem 267 (29), 20971-20979 (1992)
   PUBMED   1400413
REFERENCE   10 (bases 1 to 4303)
  AUTHORS   Perney,T.M., Marshall,J., Martin,K.A., Hockfield,S. and
            Kaczmarek,L.K.
  TITLE     Expression of the mRNAs for the Kv3.1 potassium channel gene in the
            adult and developing rat brain
  JOURNAL   J Neurophysiol 68 (3), 756-766 (1992)
   PUBMED   1432046
  REMARK    GeneRIF: Describes two rat isoforms of Kv3.1, alpha is the longer
            one and beta is the shorter one
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC124301.6, AC124056.8 and
            AC124078.5.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Sep 19, 2019 this sequence version replaced NM_001112741.1.
            
            Summary: This gene encodes a member of a family of integral
            membrane proteins that mediate the voltage-dependent potassium ion
            permeability of excitable membranes. Alternative splicing is
            thought to result in two transcript variants encoding isoforms that
            differ at their C-termini. These isoforms have had conflicting
            names in the literature: the longer isoform has been called both
            'b' and 'alpha', while the shorter isoform has been called both 'a'
            and 'beta' (PMIDs 1432046, 12091563). [provided by RefSeq, Oct
            2014].
            
            Transcript Variant: This variant (1) represents the shorter
            transcript and encodes the longer isoform (1).
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on transcript alignments and orthologous data.
            
            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 :: SRR3476690.879985.1,
                                           SRR1803617.159507.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145743, SAMEA2154665
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000265969.8/ ENSP00000265969.7
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1792              AC124301.6         26554-28345         c
            1793-2726           AC124056.8         98767-99700
            2727-2915           AC124056.8         106558-106746
            2916-4303           AC124078.5         1595-2982
FEATURES             Location/Qualifiers
     source          1..4303
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.1"
     gene            1..4303
                     /gene="KCNC1"
                     /gene_synonym="EPM7; KV3.1; KV4; NGK2"
                     /note="potassium voltage-gated channel subfamily C member
                     1"
                     /db_xref="GeneID:3746"
                     /db_xref="HGNC:HGNC:6233"
                     /db_xref="MIM:176258"
     exon            1..1792
                     /gene="KCNC1"
                     /gene_synonym="EPM7; KV3.1; KV4; NGK2"
                     /inference="alignment:Splign:2.1.0"
     CDS             1223..2980
                     /gene="KCNC1"
                     /gene_synonym="EPM7; KV3.1; KV4; NGK2"
                     /note="isoform 1 is encoded by transcript variant 1;
                     voltage-gated potassium channel protein KV3.1;
                     voltage-gated potassium channel subunit Kv4; voltage-gated
                     potassium channel KCNC1; potassium channel, voltage gated
                     Shaw related subfamily C, member 1"
                     /codon_start=1
                     /product="voltage-gated potassium channel KCNC1 isoform 1"
                     /protein_id="NP_001106212.1"
                     /db_xref="CCDS:CCDS44547.1"
                     /db_xref="GeneID:3746"
                     /db_xref="HGNC:HGNC:6233"
                     /db_xref="MIM:176258"
                     /translation="MGQGDESERIVINVGGTRHQTYRSTLRTLPGTRLAWLAEPDAHS
                     HFDYDPRADEFFFDRHPGVFAHILNYYRTGKLHCPADVCGPLYEEELAFWGIDETDVE
                     PCCWMTYRQHRDAEEALDSFGGAPLDNSADDADADGPGDSGDGEDELEMTKRLALSDS
                     PDGRPGGFWRRWQPRIWALFEDPYSSRYARYVAFASLFFILVSITTFCLETHERFNPI
                     VNKTEIENVRNGTQVRYYREAETEAFLTYIEGVCVVWFTFEFLMRVIFCPNKVEFIKN
                     SLNIIDFVAILPFYLEVGLSGLSSKAAKDVLGFLRVVRFVRILRIFKLTRHFVGLRVL
                     GHTLRASTNEFLLLIIFLALGVLIFATMIYYAERIGAQPNDPSASEHTHFKNIPIGFW
                     WAVVTMTTLGYGDMYPQTWSGMLVGALCALAGVLTIAMPVPVIVNNFGMYYSLAMAKQ
                     KLPKKKKKHIPRPPQLGSPNYCKSVVNSPHHSTQSDTCPLAQEEILEINRADSKLNGE
                     VAKAALANEDCPHIDQALTPDEGLPFTRSGTRERYGPCFLLSTGEYACPPGGGMRKDL
                     CKESPVIAKYMPTEAVRVT"
     exon            1793..2726
                     /gene="KCNC1"
                     /gene_synonym="EPM7; KV3.1; KV4; NGK2"
                     /inference="alignment:Splign:2.1.0"
     exon            2727..2915
                     /gene="KCNC1"
                     /gene_synonym="EPM7; KV3.1; KV4; NGK2"
                     /inference="alignment:Splign:2.1.0"
     exon            2916..4303
                     /gene="KCNC1"
                     /gene_synonym="EPM7; KV3.1; KV4; NGK2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4278..4283
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KCNC1"
                     /gene_synonym="EPM7; KV3.1; KV4; NGK2"
                     /note="hexamer: AATAAA"
     polyA_site      4303
                     /gene="KCNC1"
                     /gene_synonym="EPM7; KV3.1; KV4; NGK2"
                     /note="major polyA site"
ORIGIN      
        1 gaccgcgcga acgagcaggc gacgggcgag cagcaagcgg agcagcagcc cgggcggcag
       61 cagcgtcgcg gcggcggcgg cagcggccgc tccgcgcctc gcctcaccgg cctcgctggc
      121 ctcacctcgc cgcgcccgga cccgccaccc ccgcctcccc gcccgacctc cgcagccccc
      181 gtctcggccg gcagcgccca ccgcctgccc gaagcgagga gcggagtgcg gggcgcagag
      241 gcaccggagc cagtgcccgc cggccccgca aatcaaaccc agccaggaga acccccgcct
      301 ggccccgtgc agctccgcga ccgccgggag ctgtcccttc agcaccgccg cgggagccca
      361 agtccgagcg cagcccagcg gaaccccagc tcgagcccgg gctcacggag agcagcgctc
      421 ggcgttagcc gcacgagcaa caccccgggt gcccctgccc agggggcccg ccatctcctc
      481 caggaggcgg ggagaaggaa cgaggagggc gggcgggcag gcgggcccgc cgccgggggg
      541 agcaggcagc caagcaagga gagagggagg gggccggagc ccgccctgcg tcccgagctg
      601 cagcccggcc acgcagggag gaaggcaggc ggcatccatc tcccccgcgc cgagagcgcg
      661 ccgcggcgac cacctcacag aggagcgcga atttcccggc cctgtctcct cccctccccc
      721 tcctgggggc tggcctctag tccggccccg ggagcggctg acctttcccc caaaagcttt
      781 gtgccgattt ctccattttc ccgcggagat ggggacggga gcccggcccc ccaacccatt
      841 ttccccacct cccggggctc gctgctgagc ccgcccccct ccctctttcc ccctcactcc
      901 ctccctccct ccctttctcc ctccctttct ccctcccttc tttcctcctc tgcctcctcc
      961 gctgccggac cagctccctc ccacatctgg ctcctagaga cccctgggat cccgcgcaca
     1021 ttcccctgga ccggcacccg acaaagcgcc cggagaggct tggctcgctc gttggggtgg
     1081 ccagagccgc aggcctctgt tccccccgac ggctgggggg aggggggaag agggcgcgcg
     1141 cccccctccc cggcgccaac tccccctggc ggccgctccc atgggtgtcg ctgggccgcg
     1201 ccatgcctaa gggggcgccg cgatgggcca aggggacgag agcgagcgca tcgtgatcaa
     1261 cgtgggcggc acgcgccacc agacgtaccg ctcgaccctg cgcacgctgc ccggcacgcg
     1321 gctcgcctgg ctggcggagc ccgacgccca cagccacttc gactatgacc cgcgtgctga
     1381 cgagttcttc ttcgaccgcc accccggcgt cttcgcgcac atcctgaact actaccgcac
     1441 gggcaagctg cactgcccag ccgacgtgtg cgggccgctc tacgaggagg agctggcctt
     1501 ctggggcatc gacgagaccg acgtggagcc ctgctgctgg atgacgtacc gccagcaccg
     1561 cgacgccgag gaggctctgg acagcttcgg cggcgctcct ctggacaaca gcgccgacga
     1621 cgcggacgcc gacggccctg gcgactcggg cgacggcgag gacgagctgg agatgaccaa
     1681 gcgcctggcg ctcagtgact ccccggatgg ccggcctggc ggcttttggc gccgctggca
     1741 gccgcgcatc tgggcgctct tcgaggaccc gtactcgtcc cgctacgcgc ggtatgtggc
     1801 cttcgcttcc ctcttcttca tcctggtctc catcaccacc ttctgcctgg agacccacga
     1861 gcgcttcaac cccatcgtga acaagacgga gatcgagaac gttcgcaatg gcacgcaagt
     1921 gcgctactac cgggaggccg agacggaggc cttccttacc tacatcgagg gcgtctgtgt
     1981 ggtctggttc accttcgagt tcctcatgcg tgtcatcttc tgccccaaca aggtagagtt
     2041 catcaagaac tcgctcaaca tcattgactt tgtggccatc ctgcccttct acctggaggt
     2101 ggggctgagc ggcctgtcct ccaaggcagc caaggacgtg ctgggcttcc tgcgcgtcgt
     2161 ccgcttcgtg cgcatcttgc gcatctttaa gctgacccgc cactttgtgg gcctgcgggt
     2221 cctgggccac acgctccgag ccagcaccaa cgagttcctg ctgctcatca tcttcctggc
     2281 cttgggcgtg ctgatcttcg ccaccatgat ctactacgcc gagaggatag gggcacagcc
     2341 caatgacccc agcgccagtg agcacacgca ctttaagaac atccccatcg gcttctggtg
     2401 ggccgtggtc accatgacga ccctgggcta tggagacatg tacccgcaga cgtggtccgg
     2461 catgctggtg ggggctctgt gtgcgctggc gggcgtgctc accatcgcca tgcccgtgcc
     2521 cgtcatcgtg aacaatttcg ggatgtatta ctccttagcc atggctaagc agaaactacc
     2581 aaagaaaaaa aagaagcata ttccgcggcc accgcagctg ggatctccca attattgtaa
     2641 atctgtcgta aactctccac accacagtac tcagagtgac acatgtccgc tggcccagga
     2701 agaaatttta gaaattaaca gagcagattc caaactgaat ggggaggtgg cgaaggccgc
     2761 gctggcgaac gaagactgcc cccacataga ccaggccctc actcccgatg agggcctgcc
     2821 ctttacgcgc tcgggcaccc gcgagagata cggaccctgc ttcctcttat caaccgggga
     2881 gtacgcgtgc ccacctggtg gaggaatgag aaaggatctt tgcaaagaaa gccctgtcat
     2941 tgctaagtat atgccgacag aggctgtgag agtgacttga ccaggcggct tggccgagga
     3001 cactggtggc tattaagcat ctgggtggac ctgcagcccc tcctcaccct cggacagagt
     3061 aaattcacgc catgcaggtt tgccggacga gtccgagtgg cccaggcatt gtactaggac
     3121 ggacgtagct ttttctacgg ccaaatggta actgaccgta gaggatttct tttccttctt
     3181 ttcatttttt aaaattttat tttatttggg gagggggggt ggaggggctc cttagcatga
     3241 cttgcatgaa gttaaacaga aaacccagca aaccaaaccc accaaccccc tgcaactgta
     3301 tgattaccct gaacaacaat aatgaaaaga aaaacatcaa agccctctat tttctttcaa
     3361 agctcttgac tttcacacac gttgttggag ccaaactgta acggcgttca gtagaaacct
     3421 gtacatttct gggggtgagg ggcgagggga ggagggacag agatggggaa tggattgctt
     3481 cctttttgta cacaagatca agaggaaagc ttccaaaaag ggcagtcggt cagtcatcgg
     3541 tcatattgac ctcaccttca tagttcatct ctcacgtgga aactgagaac tttgctccaa
     3601 atagaattgt ggaaactcgc acggctgcct tcttccccgt ttggcatgct tgtgacccag
     3661 cggatgtctc cccaagaccc ctgacagcag ctagtctagg ttgattctct catcttatcg
     3721 gtgtgtagat ccagtgtgac caactttcat aacaaattgt tcatagtaaa taatcaccac
     3781 cgtatggatt ttccaagtgt tccattaaaa ccaggatgta gagcaccaaa agatcaggac
     3841 cacgggagga gcagcctcct ccacctttac taaggcacaa cctggcattg tatgcaattt
     3901 agtacttcag agtaaaaacc tgcatgccca atgttatgca aagcgattct agcatgaaat
     3961 aaattttgta tcatggtttc tgtatagtct aaagcagatt tgttttcctg aagcagtcgg
     4021 aggtttgcag agacacactt ctgcatctcg aataaatata gtattttccc aacagaaaca
     4081 gaggacagta gcttggcttt ggtctgattc taaaattagt ggggtggggg ggaaggatga
     4141 tatttttgaa aaacacatgc ttgagttgaa aaaaatgcaa catctcaagc tttcactgca
     4201 gctcacaaca tttcctggaa agagagcaat gatgctttag ctcaacaacc tcccctccct
     4261 gggccctggc ccccaataat aaaaaactga cttttgagat gaa
//
