GenomeNet

Database: RefSeq
Entry: NP_034731
LinkDB: NP_034731
Original site: NP_034731 
LOCUS       NP_034731               1095 aa            linear   ROD 16-SEP-2018
DEFINITION  potassium voltage-gated channel subfamily H member 3 [Mus
            musculus].
ACCESSION   NP_034731
VERSION     NP_034731.3
DBSOURCE    REFSEQ: accession NM_010601.3
KEYWORDS    RefSeq.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (residues 1 to 1095)
  AUTHORS   Sundberg JP, Dadras SS, Silva KA, Kennedy VE, Garland G, Murray SA,
            Sundberg BA, Schofield PN and Pratt CH.
  TITLE     Systematic screening for skin, hair, and nail abnormalities in a
            large-scale knockout mouse program
  JOURNAL   PLoS ONE 12 (7), e0180682 (2017)
   PUBMED   28700664
  REMARK    Publication Status: Online-Only
REFERENCE   2  (residues 1 to 1095)
  AUTHORS   Dickinson ME, Flenniken AM, Ji X, Teboul L, Wong MD, White JK,
            Meehan TF, Weninger WJ, Westerberg H, Adissu H, Baker CN, Bower L,
            Brown JM, Caddle LB, Chiani F, Clary D, Cleak J, Daly MJ, Denegre
            JM, Doe B, Dolan ME, Edie SM, Fuchs H, Gailus-Durner V, Galli A,
            Gambadoro A, Gallegos J, Guo S, Horner NR, Hsu CW, Johnson SJ,
            Kalaga S, Keith LC, Lanoue L, Lawson TN, Lek M, Mark M, Marschall
            S, Mason J, McElwee ML, Newbigging S, Nutter LM, Peterson KA,
            Ramirez-Solis R, Rowland DJ, Ryder E, Samocha KE, Seavitt JR,
            Selloum M, Szoke-Kovacs Z, Tamura M, Trainor AG, Tudose I, Wakana
            S, Warren J, Wendling O, West DB, Wong L, Yoshiki A, MacArthur DG,
            Tocchini-Valentini GP, Gao X, Flicek P, Bradley A, Skarnes WC,
            Justice MJ, Parkinson HE, Moore M, Wells S, Braun RE, Svenson KL,
            de Angelis MH, Herault Y, Mohun T, Mallon AM, Henkelman RM, Brown
            SD, Adams DJ, Lloyd KC, McKerlie C, Beaudet AL, Bucan M and Murray
            SA.
  CONSRTM   International Mouse Phenotyping Consortium; Jackson Laboratory;
            Infrastructure Nationale PHENOMIN, Institut Clinique de la Souris
            (ICS); Charles River Laboratories; MRC Harwell; Toronto Centre for
            Phenogenomics; Wellcome Trust Sanger Institute; RIKEN BioResource
            Center
  TITLE     High-throughput discovery of novel developmental phenotypes
  JOURNAL   Nature 537 (7621), 508-514 (2016)
   PUBMED   27626380
  REMARK    Erratum:[Nature. 2017 Nov 16;551(7680):398. PMID: 29144450]
REFERENCE   3  (residues 1 to 1095)
  AUTHORS   Vezzali R, Weise SC, Hellbach N, Machado V, Heidrich S and Vogel T.
  TITLE     The FOXG1/FOXO/SMAD network balances proliferation and
            differentiation of cortical progenitors and activates Kcnh3
            expression in mature neurons
  JOURNAL   Oncotarget 7 (25), 37436-37455 (2016)
   PUBMED   27224923
  REMARK    GeneRIF: Authors identified ligands of the TGFbeta- and IGF-family,
            Foxo1, Foxo3 and Kcnh3 as novel FOXG1-target genes during
            telencephalic development and showed that FOXG1 interferes with
            Foxo1 and Tgfbeta transcription.
REFERENCE   4  (residues 1 to 1095)
  AUTHORS   Koscielny G, Yaikhom G, Iyer V, Meehan TF, Morgan H,
            Atienza-Herrero J, Blake A, Chen CK, Easty R, Di Fenza A, Fiegel T,
            Grifiths M, Horne A, Karp NA, Kurbatova N, Mason JC, Matthews P,
            Oakley DJ, Qazi A, Regnart J, Retha A, Santos LA, Sneddon DJ,
            Warren J, Westerberg H, Wilson RJ, Melvin DG, Smedley D, Brown SD,
            Flicek P, Skarnes WC, Mallon AM and Parkinson H.
  TITLE     The International Mouse Phenotyping Consortium Web Portal, a
            unified point of access for knockout mice and related phenotyping
            data
  JOURNAL   Nucleic Acids Res. 42 (Database issue), D802-D809 (2014)
   PUBMED   24194600
REFERENCE   5  (residues 1 to 1095)
  AUTHORS   Zhang X, Bertaso F, Yoo JW, Baumgartel K, Clancy SM, Lee V,
            Cienfuegos C, Wilmot C, Avis J, Hunyh T, Daguia C, Schmedt C,
            Noebels J and Jegla T.
  TITLE     Deletion of the potassium channel Kv12.2 causes hippocampal
            hyperexcitability and epilepsy
  JOURNAL   Nat. Neurosci. 13 (9), 1056-1058 (2010)
   PUBMED   20676103
  REMARK    GeneRIF: We found the voltage-gated K+ channel Kv12.2 to be a
            potent regulator of excitability in hippocampal pyramidal neurons.
            Genetic deletion and pharmacologic block of Kv12.2 substantially
            reduced the firing threshold of these neurons.
REFERENCE   6  (residues 1 to 1095)
  AUTHORS   Noma K, Kimura K, Minatohara K, Nakashima H, Nagao Y, Mizoguchi A
            and Fujiyoshi Y.
  TITLE     Triple N-glycosylation in the long S5-P loop regulates the
            activation and trafficking of the Kv12.2 potassium channel
  JOURNAL   J. Biol. Chem. 284 (48), 33139-33150 (2009)
   PUBMED   19808681
  REMARK    GeneRIF: Data suggest that only glycosylated Kv12.2 channels
            (Kcnh3) show proper voltage dependence and are utilized in vivo.
REFERENCE   7  (residues 1 to 1095)
  AUTHORS   Miyake A, Takahashi S, Nakamura Y, Inamura K, Matsumoto S,
            Mochizuki S and Katou M.
  TITLE     Disruption of the ether-a-go-go K+ channel gene BEC1/KCNH3 enhances
            cognitive function
  JOURNAL   J. Neurosci. 29 (46), 14637-14645 (2009)
   PUBMED   19923296
REFERENCE   8  (residues 1 to 1095)
  AUTHORS   Clancy SM, Chen B, Bertaso F, Mamet J and Jegla T.
  TITLE     KCNE1 and KCNE3 beta-subunits regulate membrane surface expression
            of Kv12.2 K(+) channels in vitro and form a tripartite complex in
            vivo
  JOURNAL   PLoS ONE 4 (7), e6330 (2009)
   PUBMED   19623261
  REMARK    Publication Status: Online-Only
REFERENCE   9  (residues 1 to 1095)
  AUTHORS   Harrell MD, Harbi S, Hoffman JF, Zavadil J and Coetzee WA.
  TITLE     Large-scale analysis of ion channel gene expression in the mouse
            heart during perinatal development
  JOURNAL   Physiol. Genomics 28 (3), 273-283 (2007)
   PUBMED   16985003
REFERENCE   10 (residues 1 to 1095)
  AUTHORS   Trudeau MC, Titus SA, Branchaw JL, Ganetzky B and Robertson GA.
  TITLE     Functional analysis of a mouse brain Elk-type K+ channel
  JOURNAL   J. Neurosci. 19 (8), 2906-2918 (1999)
   PUBMED   10191308
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AY380579.1, AC161198.5 and
            BG069378.2.
            On Feb 23, 2008 this sequence version replaced NP_034731.2.
            
            Summary: The protein encoded by this gene is a voltage-gated
            potassium channel alpha subunit predominantly expressed in the
            forebrain. An increase in cognitive function was observed when this
            gene was knocked out, while deletion of the gene resulted in
            hippocampal hyperexcitability and epilepsy. [provided by RefSeq,
            Sep 2015].
            
            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 alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AY380579.1, SRR1660813.131441.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849374, SAMN00849381
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1095
                     /organism="Mus musculus"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="15"
                     /map="15"
     Protein         1..1095
                     /product="potassium voltage-gated channel subfamily H
                     member 3"
                     /note="ELK channel 2; ether-a-go-go-like potassium channel
                     2; voltage-gated potassium channel subunit Kv12.2; ether a
                     go-go like"
                     /calculated_mol_wt=118113
     Region          41..>134
                     /region_name="PRK15347"
                     /note="two component system sensor kinase SsrA;
                     Provisional; cl28304"
                     /db_xref="CDD:333124"
     Region          227..>662
                     /region_name="Ank_2"
                     /note="Ankyrin repeats (3 copies); cl26073"
                     /db_xref="CDD:330894"
     Site            229..249
                     /site_type="transmembrane region"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9WVJ0.3)"
     Site            260..280
                     /site_type="transmembrane region"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9WVJ0.3)"
     Site            303..323
                     /site_type="transmembrane region"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9WVJ0.3)"
     Site            332..352
                     /site_type="transmembrane region"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9WVJ0.3)"
     Site            362..382
                     /site_type="transmembrane region"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9WVJ0.3)"
     Region          476..481
                     /region_name="Selectivity filter. {ECO:0000250}"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9WVJ0.3)"
     Site            491..511
                     /site_type="transmembrane region"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9WVJ0.3)"
     Region          <617..712
                     /region_name="cyc_nuc_ocin"
                     /note="bacteriocin-type transport-associated protein;
                     TIGR03896"
                     /db_xref="CDD:274839"
     CDS             1..1095
                     /gene="Kcnh3"
                     /gene_synonym="AU019351; C030044P22Rik; Elk2; Kv12.2;
                     Melk2"
                     /coded_by="NM_010601.3:1..3288"
                     /db_xref="CCDS:CCDS27817.1"
                     /db_xref="GeneID:16512"
                     /db_xref="MGI:MGI:1341723"
ORIGIN      
        1 mpamrgllap qntfldtiat rfdgthsnfv lgnaqvaglf pvvycsdgfc dltgfsraev
       61 mqrgcacsfl ygpdtselvr qqirkaldeh kefkaelily rksglpfwcl ldvipiknek
      121 gevalflvsh kdisetknrg gpdnwkergg grrrygrags kgfnanrrrs ravlyhlsgh
      181 lqkqpkgkhk lnkgvfgekp nlpeykvaai rkspfillhc galratwdgf illatlyvav
      241 tvpysvcvst arepsaargp psvcdlavev lfildivlnf rttfvsksgq vvfapksicl
      301 hyvttwflld viaalpfdll hafkvnvyvg ahllktvrll rllrllprld rysqysavvl
      361 tllmavfall ahwvacvwfy igqqeiesse selpeigwlq elarrletpy ylvsrspdgg
      421 nssgqsencs ssssssgsgg grgseangtg lellggpslr sayitslyfa lssltsvgfg
      481 nvsantdtek ifsictmlig almhavvfgn vtaiiqrmya rrflyhsrtr dlrdyirihr
      541 ipkplkqrml eyfqatwavn ngidttellq slpdelradi amhlhkevlq lplfeaasrg
      601 clralslalr pafctpgeyl ihqgdalqal yfvcsgsmev lkggtvlail gkgdligcel
      661 pqreqvvkan advkgltycv lqclqlaglh eslalypefa prfsrglrge lsynlgaggv
      721 saevdtssls gdntlmstle eketdgeqgh tvspapadep sspllspgct ssssaaklls
      781 prrtaprprl ggrgrpsrag vlkpeagpsa hprsldglql ppmpwnvppd lsprvvdgie
      841 dgcssdqpkf sfrvgqsgpe cssspspgte sglltvplgp searntdtld klrqavmels
      901 eqvlqmregl qslrqavqli lvpqgegqcp rgsgeepcpa tasgllqplr vdtgassycl
      961 qppagsvlsg twphprpgqp pplmapwpwg ppasqsspwp ratalwtsts dseppgsgdl
     1021 csepstpasp ppseegartg tpapvsqaea tstgepppgp ggralpwdph slemvligch
     1081 gpgtvqwtqe egtgv
//
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