LOCUS NP_034731 1095 aa linear ROD 01-APR-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
//
