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KCNF1_HUMAN
ID   KCNF1_HUMAN             Reviewed;         494 AA.
AC   Q9H3M0; O43527; Q585L3;
DT   25-OCT-2002, integrated into UniProtKB/Swiss-Prot.
DT   01-MAR-2001, sequence version 1.
DT   03-AUG-2022, entry version 164.
DE   RecName: Full=Potassium voltage-gated channel subfamily F member 1;
DE   AltName: Full=Voltage-gated potassium channel subunit Kv5.1;
DE   AltName: Full=kH1;
GN   Name=KCNF1;
OS   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC   Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC   Homo.
OX   NCBI_TaxID=9606;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [MRNA].
RC   TISSUE=Fetal brain;
RX   PubMed=9434767; DOI=10.1006/bbrc.1997.7830;
RA   Su K., Kyaw H., Fan P., Zeng Z., Shell B.K., Carter K.C., Li Y.;
RT   "Isolation, characterization, and mapping of two human potassium
RT   channels.";
RL   Biochem. Biophys. Res. Commun. 241:675-681(1997).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [MRNA].
RA   Chen J., Ptacek J.L.;
RL   Submitted (OCT-1997) to the EMBL/GenBank/DDBJ databases.
RN   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   PubMed=15815621; DOI=10.1038/nature03466;
RA   Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P.,
RA   Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C.,
RA   Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L.,
RA   Du H., Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A.,
RA   Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J.,
RA   Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M.,
RA   Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T.,
RA   Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S.,
RA   Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K.,
RA   McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C.,
RA   Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S.,
RA   Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C.,
RA   Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M.,
RA   Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C.,
RA   Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J.,
RA   Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E.,
RA   Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X.,
RA   Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M.,
RA   Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C.,
RA   Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S.,
RA   Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H.,
RA   Wilson R.K.;
RT   "Generation and annotation of the DNA sequences of human chromosomes 2 and
RT   4.";
RL   Nature 434:724-731(2005).
RN   [4]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA   Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA   Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA   Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA   Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA   Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA   Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA   Hunkapiller M.W., Myers E.W., Venter J.C.;
RL   Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN   [5]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC   TISSUE=Hypothalamus;
RX   PubMed=15489334; DOI=10.1101/gr.2596504;
RG   The MGC Project Team;
RT   "The status, quality, and expansion of the NIH full-length cDNA project:
RT   the Mammalian Gene Collection (MGC).";
RL   Genome Res. 14:2121-2127(2004).
RN   [6]
RP   INTERACTION WITH DLG1.
RX   PubMed=12445884; DOI=10.1016/s0008-6363(02)00602-8;
RA   Godreau D., Vranckx R., Maguy A., Rucker-Martin C., Goyenvalle C.,
RA   Abdelshafy S., Tessier S., Couetil J.P., Hatem S.N.;
RT   "Expression, regulation and role of the MAGUK protein SAP-97 in human
RT   atrial myocardium.";
RL   Cardiovasc. Res. 56:433-442(2002).
CC   -!- FUNCTION: Putative voltage-gated potassium channel.
CC   -!- SUBUNIT: Heteromultimer with KCNG3, KCNG4 and KCNV2. Interacts with
CC       DLG1. {ECO:0000269|PubMed:12445884}.
CC   -!- INTERACTION:
CC       Q9H3M0; O15296: ALOX15B; NbExp=3; IntAct=EBI-6918743, EBI-12150557;
CC       Q9H3M0; Q96KA5: CLPTM1L; NbExp=3; IntAct=EBI-6918743, EBI-3216282;
CC       Q9H3M0; O95363: FARS2; NbExp=3; IntAct=EBI-6918743, EBI-2513774;
CC       Q9H3M0; Q07820: MCL1; NbExp=3; IntAct=EBI-6918743, EBI-1003422;
CC       Q9H3M0; Q9Y6X1: SERP1; NbExp=4; IntAct=EBI-6918743, EBI-10329948;
CC       Q9H3M0; Q92504: SLC39A7; NbExp=3; IntAct=EBI-6918743, EBI-1051105;
CC       Q9H3M0; Q15560: TCEA2; NbExp=3; IntAct=EBI-6918743, EBI-710310;
CC       Q9H3M0; P30536: TSPO; NbExp=3; IntAct=EBI-6918743, EBI-6623146;
CC   -!- SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
CC   -!- TISSUE SPECIFICITY: Detected in heart, brain, liver, skeletal muscle,
CC       kidney and pancreas.
CC   -!- DOMAIN: The segment S4 is probably the voltage-sensor and is
CC       characterized by a series of positively charged amino acids at every
CC       third position.
CC   -!- SIMILARITY: Belongs to the potassium channel family. F (TC 1.A.1.2)
CC       subfamily. Kv5.1/KCNF1 sub-subfamily. {ECO:0000305}.
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DR   EMBL; AF033382; AAC05597.1; -; mRNA.
DR   EMBL; AF029780; AAG43055.1; -; mRNA.
DR   EMBL; AC019041; AAX81991.1; -; Genomic_DNA.
DR   EMBL; CH471053; EAX00946.1; -; Genomic_DNA.
DR   EMBL; BC026110; AAH26110.1; -; mRNA.
DR   CCDS; CCDS1676.1; -.
DR   PIR; JC5919; JC5919.
DR   RefSeq; NP_002227.2; NM_002236.4.
DR   AlphaFoldDB; Q9H3M0; -.
DR   SMR; Q9H3M0; -.
DR   BioGRID; 109956; 18.
DR   IntAct; Q9H3M0; 9.
DR   STRING; 9606.ENSP00000295082; -.
DR   ChEMBL; CHEMBL2362996; -.
DR   DrugBank; DB00228; Enflurane.
DR   DrugBank; DB01110; Miconazole.
DR   DrugBank; DB01069; Promethazine.
DR   DrugCentral; Q9H3M0; -.
DR   TCDB; 1.A.1.2.18; the voltage-gated ion channel (vic) superfamily.
DR   iPTMnet; Q9H3M0; -.
DR   PhosphoSitePlus; Q9H3M0; -.
DR   BioMuta; KCNF1; -.
DR   DMDM; 24418476; -.
DR   MassIVE; Q9H3M0; -.
DR   PaxDb; Q9H3M0; -.
DR   PeptideAtlas; Q9H3M0; -.
DR   PRIDE; Q9H3M0; -.
DR   Antibodypedia; 2904; 161 antibodies from 27 providers.
DR   DNASU; 3754; -.
DR   Ensembl; ENST00000295082.3; ENSP00000295082.1; ENSG00000162975.5.
DR   GeneID; 3754; -.
DR   KEGG; hsa:3754; -.
DR   MANE-Select; ENST00000295082.3; ENSP00000295082.1; NM_002236.5; NP_002227.2.
DR   UCSC; uc002rax.3; human.
DR   CTD; 3754; -.
DR   GeneCards; KCNF1; -.
DR   HGNC; HGNC:6246; KCNF1.
DR   HPA; ENSG00000162975; Group enriched (brain, choroid plexus).
DR   MIM; 603787; gene.
DR   neXtProt; NX_Q9H3M0; -.
DR   OpenTargets; ENSG00000162975; -.
DR   PharmGKB; PA30033; -.
DR   VEuPathDB; HostDB:ENSG00000162975; -.
DR   eggNOG; KOG3713; Eukaryota.
DR   GeneTree; ENSGT00940000160213; -.
DR   HOGENOM; CLU_011722_4_1_1; -.
DR   InParanoid; Q9H3M0; -.
DR   OMA; FKCIIDV; -.
DR   OrthoDB; 818306at2759; -.
DR   PhylomeDB; Q9H3M0; -.
DR   TreeFam; TF313103; -.
DR   PathwayCommons; Q9H3M0; -.
DR   Reactome; R-HSA-1296072; Voltage gated Potassium channels.
DR   SignaLink; Q9H3M0; -.
DR   BioGRID-ORCS; 3754; 11 hits in 1062 CRISPR screens.
DR   ChiTaRS; KCNF1; human.
DR   GeneWiki; KCNF1; -.
DR   GenomeRNAi; 3754; -.
DR   Pharos; Q9H3M0; Tclin.
DR   PRO; PR:Q9H3M0; -.
DR   Proteomes; UP000005640; Chromosome 2.
DR   RNAct; Q9H3M0; protein.
DR   Bgee; ENSG00000162975; Expressed in prefrontal cortex and 111 other tissues.
DR   Genevisible; Q9H3M0; HS.
DR   GO; GO:0097546; C:ciliary base; IEA:Ensembl.
DR   GO; GO:0016021; C:integral component of membrane; IBA:GO_Central.
DR   GO; GO:0005886; C:plasma membrane; TAS:Reactome.
DR   GO; GO:0008076; C:voltage-gated potassium channel complex; IBA:GO_Central.
DR   GO; GO:0005267; F:potassium channel activity; TAS:ProtInc.
DR   GO; GO:0005249; F:voltage-gated potassium channel activity; IBA:GO_Central.
DR   GO; GO:1905515; P:non-motile cilium assembly; IEA:Ensembl.
DR   GO; GO:0071805; P:potassium ion transmembrane transport; IBA:GO_Central.
DR   GO; GO:0006813; P:potassium ion transport; TAS:ProtInc.
DR   GO; GO:0051260; P:protein homooligomerization; IEA:InterPro.
DR   GO; GO:0034765; P:regulation of ion transmembrane transport; IEA:UniProtKB-KW.
DR   Gene3D; 1.20.120.350; -; 1.
DR   Gene3D; 3.30.710.10; -; 1.
DR   InterPro; IPR005821; Ion_trans_dom.
DR   InterPro; IPR003968; K_chnl_volt-dep_Kv.
DR   InterPro; IPR003971; K_chnl_volt-dep_Kv9.
DR   InterPro; IPR011333; SKP1/BTB/POZ_sf.
DR   InterPro; IPR003131; T1-type_BTB.
DR   InterPro; IPR028325; VG_K_chnl.
DR   InterPro; IPR027359; Volt_channel_dom_sf.
DR   PANTHER; PTHR11537; PTHR11537; 1.
DR   Pfam; PF02214; BTB_2; 1.
DR   Pfam; PF00520; Ion_trans; 1.
DR   PRINTS; PR01494; KV9CHANNEL.
DR   PRINTS; PR01491; KVCHANNEL.
DR   SUPFAM; SSF54695; SSF54695; 1.
PE   1: Evidence at protein level;
KW   Ion channel; Ion transport; Membrane; Potassium; Potassium channel;
KW   Potassium transport; Reference proteome; Transmembrane;
KW   Transmembrane helix; Transport; Voltage-gated channel.
FT   CHAIN           1..494
FT                   /note="Potassium voltage-gated channel subfamily F member
FT                   1"
FT                   /id="PRO_0000054072"
FT   TOPO_DOM        1..183
FT                   /note="Cytoplasmic"
FT                   /evidence="ECO:0000255"
FT   TRANSMEM        184..204
FT                   /note="Helical; Name=Segment S1"
FT                   /evidence="ECO:0000255"
FT   TRANSMEM        224..244
FT                   /note="Helical; Name=Segment S2"
FT                   /evidence="ECO:0000255"
FT   TOPO_DOM        245..249
FT                   /note="Cytoplasmic"
FT                   /evidence="ECO:0000255"
FT   TRANSMEM        250..270
FT                   /note="Helical; Name=Segment S3"
FT                   /evidence="ECO:0000255"
FT   TRANSMEM        290..310
FT                   /note="Helical; Voltage-sensor; Name=Segment S4"
FT                   /evidence="ECO:0000255"
FT   TOPO_DOM        311..324
FT                   /note="Cytoplasmic"
FT                   /evidence="ECO:0000255"
FT   TRANSMEM        325..345
FT                   /note="Helical; Name=Segment S5"
FT                   /evidence="ECO:0000255"
FT   INTRAMEM        358..378
FT                   /note="Pore-forming; Name=Segment H5"
FT                   /evidence="ECO:0000255"
FT   TRANSMEM        386..406
FT                   /note="Helical; Name=Segment S6"
FT                   /evidence="ECO:0000255"
FT   TOPO_DOM        407..494
FT                   /note="Cytoplasmic"
FT                   /evidence="ECO:0000255"
FT   REGION          433..469
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   MOTIF           370..375
FT                   /note="Selectivity filter"
FT                   /evidence="ECO:0000250"
FT   CONFLICT        186
FT                   /note="V -> E (in Ref. 1; AAC05597)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        202
FT                   /note="G -> D (in Ref. 1; AAC05597)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        356
FT                   /note="S -> N (in Ref. 1; AAC05597)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        383
FT                   /note="G -> S (in Ref. 1; AAC05597)"
FT                   /evidence="ECO:0000305"
SQ   SEQUENCE   494 AA;  55584 MW;  87E2FB117F927F60 CRC64;
     MDGSGERSLP EPGSQSSAAS DDIEIVVNVG GVRQVLYGDL LSQYPETRLA ELINCLAGGY
     DTIFSLCDDY DPGKREFYFD RDPDAFKCVI EVYYFGEVHM KKGICPICFK NEMDFWKVDL
     KFLDDCCKSH LSEKREELEE IARRVQLILD DLGVDAAEGR WRRCQKCVWK FLEKPESSCP
     ARVVAVLSFL LILVSSVVMC MGTIPELQVL DAEGNRVEHP TLENVETACI GWFTLEYLLR
     LFSSPNKLHF ALSFMNIVDV LAILPFYVSL TLTHLGARMM ELTNVQQAVQ ALRIMRIARI
     FKLARHSSGL QTLTYALKRS FKELGLLLMY LAVGIFVFSA LGYTMEQSHP ETLFKSIPQS
     FWWAIITMTT VGYGDIYPKT TLGKLNAAIS FLCGVIAIAL PIHPIINNFV RYYNKQRVLE
     TAAKHELELM ELNSSSGGEG KTGGSRSDLD NLPPEPAGKE APSCSSRLKL SHSDTFIPLL
     TEEKHHRTRL QSCK
 
 
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