LOCUS NP_034731 1095 aa linear ROD 29-APR-2025
DEFINITION voltage-gated inwardly rectifying potassium channel KCNH3 [Mus
musculus].
ACCESSION NP_034731
VERSION NP_034731.3
DBSOURCE REFSEQ: accession NM_010601.4
KEYWORDS RefSeq; RefSeq Select.
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 Adams,D.J., Barlas,B., McIntyre,R.E., Salguero,I., van der
Weyden,L., Barros,A., Vicente,J.R., Karimpour,N., Haider,A.,
Ranzani,M., Turner,G., Thompson,N.A., Harle,V., Olvera-Leon,R.,
Robles-Espinoza,C.D., Speak,A.O., Geisler,N., Weninger,W.J.,
Geyer,S.H., Hewinson,J., Karp,N.A., Fu,B., Yang,F., Kozik,Z.,
Choudhary,J., Yu,L., van Ruiten,M.S., Rowland,B.D., Lelliott,C.J.,
Del Castillo Velasco-Herrera,M., Verstraten,R., Bruckner,L.,
Henssen,A.G., Rooimans,M.A., de Lange,J., Mohun,T.J., Arends,M.J.,
Kentistou,K.A., Coelho,P.A., Zhao,Y., Zecchini,H., Perry,J.R.B.,
Jackson,S.P. and Balmus,G.
CONSRTM Sanger Mouse Genetics Project
TITLE Genetic determinants of micronucleus formation in vivo
JOURNAL Nature 627 (8002), 130-136 (2024)
PUBMED 38355793
REFERENCE 2 (residues 1 to 1095)
AUTHORS Hermanstyne,T.O., Yang,N.D., Granados-Fuentes,D., Li,X.,
Mellor,R.L., Jegla,T., Herzog,E.D. and Nerbonne,J.M.
TITLE Kv12-encoded K+ channels drive the day-night switch in the
repetitive firing rates of SCN neurons
JOURNAL J Gen Physiol 155 (9) (2023)
PUBMED 37516908
REMARK GeneRIF: Kv12-encoded K+ channels drive the day-night switch in the
repetitive firing rates of SCN neurons.
REFERENCE 3 (residues 1 to 1095)
AUTHORS Sundberg,J.P., Dadras,S.S., Silva,K.A., Kennedy,V.E., Garland,G.,
Murray,S.A., Sundberg,B.A., Schofield,P.N. and Pratt,C.H.
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 4 (residues 1 to 1095)
AUTHORS Dickinson,M.E., Flenniken,A.M., Ji,X., Teboul,L., Wong,M.D.,
White,J.K., Meehan,T.F., Weninger,W.J., Westerberg,H., Adissu,H.,
Baker,C.N., Bower,L., Brown,J.M., Caddle,L.B., Chiani,F., Clary,D.,
Cleak,J., Daly,M.J., Denegre,J.M., Doe,B., Dolan,M.E., Edie,S.M.,
Fuchs,H., Gailus-Durner,V., Galli,A., Gambadoro,A., Gallegos,J.,
Guo,S., Horner,N.R., Hsu,C.W., Johnson,S.J., Kalaga,S., Keith,L.C.,
Lanoue,L., Lawson,T.N., Lek,M., Mark,M., Marschall,S., Mason,J.,
McElwee,M.L., Newbigging,S., Nutter,L.M., Peterson,K.A.,
Ramirez-Solis,R., Rowland,D.J., Ryder,E., Samocha,K.E.,
Seavitt,J.R., Selloum,M., Szoke-Kovacs,Z., Tamura,M., Trainor,A.G.,
Tudose,I., Wakana,S., Warren,J., Wendling,O., West,D.B., Wong,L.,
Yoshiki,A., MacArthur,D.G., Tocchini-Valentini,G.P., Gao,X.,
Flicek,P., Bradley,A., Skarnes,W.C., Justice,M.J., Parkinson,H.E.,
Moore,M., Wells,S., Braun,R.E., Svenson,K.L., de Angelis,M.H.,
Herault,Y., Mohun,T., Mallon,A.M., Henkelman,R.M., Brown,S.D.,
Adams,D.J., Lloyd,K.C., McKerlie,C., Beaudet,A.L., Bucan,M. and
Murray,S.A.
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. doi:
10.1038/nature24643. PMID: 29144450]
REFERENCE 5 (residues 1 to 1095)
AUTHORS Vezzali,R., Weise,S.C., 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 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,S.M., 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,M.D., Harbi,S., Hoffman,J.F., Zavadil,J. and Coetzee,W.A.
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,M.C., Titus,S.A., Branchaw,J.L., Ganetzky,B. and
Robertson,G.A.
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 AC161198.5.
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.
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 :: BC141013.1, AY380579.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
SAMN00849374, SAMN00849381
[ECO:0000348]
##Evidence-Data-END##
##RefSeq-Attributes-START##
RefSeq Select criteria :: based on conservation, expression
##RefSeq-Attributes-END##
FEATURES Location/Qualifiers
source 1..1095
/organism="Mus musculus"
/strain="C57BL/6"
/db_xref="taxon:10090"
/chromosome="15"
/map="15 56.08 cM"
Protein 1..1095
/product="voltage-gated inwardly rectifying potassium
channel KCNH3"
/note="potassium voltage-gated channel subfamily H member
3; 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 40..135
/region_name="PAS_9"
/note="PAS domain; pfam13426"
/db_xref="CDD:463873"
Region 137..161
/region_name="Disordered.
/evidence=ECO:0000256|SAM:MobiDB-lite"
/note="propagated from UniProtKB/Swiss-Prot (Q9WVJ0.3)"
Region 227..>662
/region_name="PLN03192"
/note="Voltage-dependent potassium channel; Provisional"
/db_xref="CDD:215625"
Site 229..249
/site_type="transmembrane region"
/note="propagated from UniProtKB/Swiss-Prot (Q9WVJ0.3)"
Site 260..280
/site_type="transmembrane region"
/note="propagated from UniProtKB/Swiss-Prot (Q9WVJ0.3)"
Site 303..323
/site_type="transmembrane region"
/note="propagated from UniProtKB/Swiss-Prot (Q9WVJ0.3)"
Site 332..352
/site_type="transmembrane region"
/note="propagated from UniProtKB/Swiss-Prot (Q9WVJ0.3)"
Site 362..382
/site_type="transmembrane region"
/note="propagated from UniProtKB/Swiss-Prot (Q9WVJ0.3)"
Region 417..447
/region_name="Disordered.
/evidence=ECO:0000256|SAM:MobiDB-lite"
/note="propagated from UniProtKB/Swiss-Prot (Q9WVJ0.3)"
Site 421
/site_type="glycosylation"
/note="N-linked (GlcNAc...) asparagine.
/evidence=ECO:0000269|PubMed:19808681; propagated from
UniProtKB/Swiss-Prot (Q9WVJ0.3)"
Site 428
/site_type="glycosylation"
/note="N-linked (GlcNAc...) asparagine.
/evidence=ECO:0000269|PubMed:19808681; propagated from
UniProtKB/Swiss-Prot (Q9WVJ0.3)"
Site 447
/site_type="glycosylation"
/note="N-linked (GlcNAc...) asparagine.
/evidence=ECO:0000269|PubMed:19808681; propagated from
UniProtKB/Swiss-Prot (Q9WVJ0.3)"
Region 476..481
/region_name="Selectivity filter. /evidence=ECO:0000250"
/note="propagated from UniProtKB/Swiss-Prot (Q9WVJ0.3)"
Site 491..511
/site_type="transmembrane region"
/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"
Region 740..823
/region_name="Disordered.
/evidence=ECO:0000256|SAM:MobiDB-lite"
/note="propagated from UniProtKB/Swiss-Prot (Q9WVJ0.3)"
Region 854..883
/region_name="Disordered.
/evidence=ECO:0000256|SAM:MobiDB-lite"
/note="propagated from UniProtKB/Swiss-Prot (Q9WVJ0.3)"
Region 965..1069
/region_name="Disordered.
/evidence=ECO:0000256|SAM:MobiDB-lite"
/note="propagated from UniProtKB/Swiss-Prot (Q9WVJ0.3)"
CDS 1..1095
/gene="Kcnh3"
/gene_synonym="C030044P22Rik; Elk2; Kv12.2; Melk2"
/coded_by="NM_010601.4:385..3672"
/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
//
