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KCNG4_HUMAN
ID   KCNG4_HUMAN             Reviewed;         519 AA.
AC   Q8TDN1; Q96H24;
DT   28-NOV-2002, integrated into UniProtKB/Swiss-Prot.
DT   01-JUN-2002, sequence version 1.
DT   03-AUG-2022, entry version 175.
DE   RecName: Full=Potassium voltage-gated channel subfamily G member 4;
DE   AltName: Full=Voltage-gated potassium channel subunit Kv6.4;
GN   Name=KCNG4; Synonyms=KCNG3;
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] (ISOFORM 1).
RC   TISSUE=Brain;
RX   PubMed=12060745; DOI=10.1073/pnas.122617999;
RA   Ottschytsch N., Raes A., Van Hoorick D., Snyders D.J.;
RT   "Obligatory heterotetramerization of three previously uncharacterized Kv
RT   channel alpha-subunits identified in the human genome.";
RL   Proc. Natl. Acad. Sci. U.S.A. 99:7986-7991(2002).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC   TISSUE=Muscle;
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   [3]
RP   FUNCTION, SUBUNIT, INTERACTION WITH KCNB1, AND SUBCELLULAR LOCATION.
RX   PubMed=19074135; DOI=10.1074/jbc.m808786200;
RA   Mederos y Schnitzler M., Rinne S., Skrobek L., Renigunta V.,
RA   Schlichthorl G., Derst C., Gudermann T., Daut J., Preisig-Muller R.;
RT   "Mutation of histidine 105 in the T1 domain of the potassium channel Kv2.1
RT   disrupts heteromerization with Kv6.3 and Kv6.4.";
RL   J. Biol. Chem. 284:4695-4704(2009).
CC   -!- FUNCTION: Potassium channel subunit that does not form functional
CC       channels by itself. Can form functional heterotetrameric channels with
CC       KCNB1; modulates the delayed rectifier voltage-gated potassium channel
CC       activation and deactivation rates of KCNB1 (PubMed:19074135).
CC       {ECO:0000269|PubMed:19074135}.
CC   -!- SUBUNIT: Heterotetramer with KCNB1 (PubMed:19074135).
CC       {ECO:0000269|PubMed:19074135}.
CC   -!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:19074135};
CC       Multi-pass membrane protein {ECO:0000305}. Note=Has to be associated
CC       with KCNB1 or possibly another partner to get inserted in the plasma
CC       membrane. Colocalizes with KCNB1 at the plasma membrane. Remains
CC       intracellular in the absence of KCNB1 (PubMed:19074135).
CC       {ECO:0000269|PubMed:19074135}.
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=2;
CC       Name=1;
CC         IsoId=Q8TDN1-1; Sequence=Displayed;
CC       Name=2;
CC         IsoId=Q8TDN1-2; Sequence=VSP_001029, VSP_001030;
CC   -!- TISSUE SPECIFICITY: Highly expressed in brain, and at lower levels in
CC       liver, small intestine and colon.
CC   -!- DOMAIN: The transmembrane segment S4 functions as voltage-sensor and is
CC       characterized by a series of positively charged amino acids at every
CC       third position. Channel opening and closing is effected by a
CC       conformation change that affects the position and orientation of the
CC       voltage-sensor paddle formed by S3 and S4 within the membrane. A
CC       transmembrane electric field that is positive inside would push the
CC       positively charged S4 segment outwards, thereby opening the pore, while
CC       a field that is negative inside would pull the S4 segment inwards and
CC       close the pore. Changes in the position and orientation of S4 are then
CC       transmitted to the activation gate formed by the inner helix bundle via
CC       the S4-S5 linker region. {ECO:0000250|UniProtKB:P63142}.
CC   -!- SIMILARITY: Belongs to the potassium channel family. G (TC 1.A.1.2)
CC       subfamily. Kv6.4/KCNG4 sub-subfamily. {ECO:0000305}.
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DR   EMBL; AF348984; AAL83911.1; -; mRNA.
DR   EMBL; BC008969; AAH08969.1; -; mRNA.
DR   CCDS; CCDS10945.1; -. [Q8TDN1-1]
DR   RefSeq; NP_758857.1; NM_172347.2. [Q8TDN1-1]
DR   AlphaFoldDB; Q8TDN1; -.
DR   SMR; Q8TDN1; -.
DR   BioGRID; 125002; 19.
DR   IntAct; Q8TDN1; 3.
DR   STRING; 9606.ENSP00000312129; -.
DR   ChEMBL; CHEMBL2362996; -.
DR   DrugBank; DB00228; Enflurane.
DR   DrugBank; DB01110; Miconazole.
DR   DrugBank; DB01069; Promethazine.
DR   DrugCentral; Q8TDN1; -.
DR   TCDB; 1.A.1.2.26; the voltage-gated ion channel (vic) superfamily.
DR   PhosphoSitePlus; Q8TDN1; -.
DR   SwissPalm; Q8TDN1; -.
DR   BioMuta; KCNG4; -.
DR   DMDM; 26006803; -.
DR   PaxDb; Q8TDN1; -.
DR   PeptideAtlas; Q8TDN1; -.
DR   PRIDE; Q8TDN1; -.
DR   ProteomicsDB; 74307; -. [Q8TDN1-1]
DR   ProteomicsDB; 74308; -. [Q8TDN1-2]
DR   Antibodypedia; 30581; 109 antibodies from 25 providers.
DR   DNASU; 93107; -.
DR   Ensembl; ENST00000308251.6; ENSP00000312129.4; ENSG00000168418.8. [Q8TDN1-1]
DR   Ensembl; ENST00000568181.1; ENSP00000457897.1; ENSG00000168418.8. [Q8TDN1-2]
DR   GeneID; 93107; -.
DR   KEGG; hsa:93107; -.
DR   MANE-Select; ENST00000308251.6; ENSP00000312129.4; NM_172347.3; NP_758857.1.
DR   UCSC; uc002fhu.1; human. [Q8TDN1-1]
DR   CTD; 93107; -.
DR   DisGeNET; 93107; -.
DR   GeneCards; KCNG4; -.
DR   HGNC; HGNC:19697; KCNG4.
DR   HPA; ENSG00000168418; Group enriched (brain, retina).
DR   MIM; 607603; gene.
DR   neXtProt; NX_Q8TDN1; -.
DR   OpenTargets; ENSG00000168418; -.
DR   PharmGKB; PA134989953; -.
DR   VEuPathDB; HostDB:ENSG00000168418; -.
DR   eggNOG; KOG3713; Eukaryota.
DR   GeneTree; ENSGT00940000156938; -.
DR   HOGENOM; CLU_011722_4_1_1; -.
DR   InParanoid; Q8TDN1; -.
DR   OMA; YVLPWST; -.
DR   PhylomeDB; Q8TDN1; -.
DR   TreeFam; TF313103; -.
DR   PathwayCommons; Q8TDN1; -.
DR   Reactome; R-HSA-1296072; Voltage gated Potassium channels.
DR   SignaLink; Q8TDN1; -.
DR   BioGRID-ORCS; 93107; 16 hits in 1060 CRISPR screens.
DR   GeneWiki; KCNG4; -.
DR   GenomeRNAi; 93107; -.
DR   Pharos; Q8TDN1; Tclin.
DR   PRO; PR:Q8TDN1; -.
DR   Proteomes; UP000005640; Chromosome 16.
DR   RNAct; Q8TDN1; protein.
DR   Bgee; ENSG00000168418; Expressed in amygdala and 26 other tissues.
DR   ExpressionAtlas; Q8TDN1; baseline and differential.
DR   Genevisible; Q8TDN1; HS.
DR   GO; GO:0016021; C:integral component of membrane; IBA:GO_Central.
DR   GO; GO:0005654; C:nucleoplasm; IDA:HPA.
DR   GO; GO:0005886; C:plasma membrane; IDA:UniProtKB.
DR   GO; GO:0008076; C:voltage-gated potassium channel complex; IDA:GO_Central.
DR   GO; GO:0005251; F:delayed rectifier potassium channel activity; IDA:UniProtKB.
DR   GO; GO:0044325; F:transmembrane transporter binding; IPI:UniProtKB.
DR   GO; GO:0005249; F:voltage-gated potassium channel activity; IBA:GO_Central.
DR   GO; GO:0071805; P:potassium ion transmembrane transport; IDA:UniProtKB.
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   Alternative splicing; Cell membrane; Ion channel; Ion transport; Membrane;
KW   Potassium; Potassium channel; Potassium transport; Reference proteome;
KW   Transmembrane; Transmembrane helix; Transport; Voltage-gated channel.
FT   CHAIN           1..519
FT                   /note="Potassium voltage-gated channel subfamily G member
FT                   4"
FT                   /id="PRO_0000054080"
FT   TOPO_DOM        1..218
FT                   /note="Cytoplasmic"
FT                   /evidence="ECO:0000250|UniProtKB:P63142"
FT   TRANSMEM        219..240
FT                   /note="Helical; Name=Segment S1"
FT                   /evidence="ECO:0000250|UniProtKB:P63142"
FT   TOPO_DOM        241..261
FT                   /note="Extracellular"
FT                   /evidence="ECO:0000250|UniProtKB:P63142"
FT   TRANSMEM        262..283
FT                   /note="Helical; Name=Segment S2"
FT                   /evidence="ECO:0000250|UniProtKB:P63142"
FT   TOPO_DOM        284..294
FT                   /note="Cytoplasmic"
FT                   /evidence="ECO:0000250|UniProtKB:P63142"
FT   TRANSMEM        295..314
FT                   /note="Helical; Name=Segment S3"
FT                   /evidence="ECO:0000250|UniProtKB:P63142"
FT   TOPO_DOM        315..328
FT                   /note="Extracellular"
FT                   /evidence="ECO:0000250|UniProtKB:P63142"
FT   TRANSMEM        329..353
FT                   /note="Helical; Voltage-sensor; Name=Segment S4"
FT                   /evidence="ECO:0000250|UniProtKB:P63142"
FT   TOPO_DOM        354..368
FT                   /note="Cytoplasmic"
FT                   /evidence="ECO:0000250|UniProtKB:P63142"
FT   TRANSMEM        369..390
FT                   /note="Helical; Name=Segment S5"
FT                   /evidence="ECO:0000250|UniProtKB:P63142"
FT   TOPO_DOM        391..405
FT                   /note="Extracellular"
FT                   /evidence="ECO:0000250|UniProtKB:P63142"
FT   INTRAMEM        406..417
FT                   /note="Helical; Name=Pore helix"
FT                   /evidence="ECO:0000250|UniProtKB:P63142"
FT   INTRAMEM        418..425
FT                   /evidence="ECO:0000250|UniProtKB:P63142"
FT   TOPO_DOM        426..432
FT                   /note="Extracellular"
FT                   /evidence="ECO:0000250|UniProtKB:P63142"
FT   TRANSMEM        433..461
FT                   /note="Helical; Name=Segment S6"
FT                   /evidence="ECO:0000250|UniProtKB:P63142"
FT   TOPO_DOM        462..519
FT                   /note="Cytoplasmic"
FT                   /evidence="ECO:0000250|UniProtKB:P63142"
FT   REGION          1..25
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   MOTIF           418..423
FT                   /note="Selectivity filter"
FT                   /evidence="ECO:0000250|UniProtKB:P63142"
FT   VAR_SEQ         253..256
FT                   /note="GECS -> VSGL (in isoform 2)"
FT                   /evidence="ECO:0000303|PubMed:15489334"
FT                   /id="VSP_001029"
FT   VAR_SEQ         257..519
FT                   /note="Missing (in isoform 2)"
FT                   /evidence="ECO:0000303|PubMed:15489334"
FT                   /id="VSP_001030"
FT   VARIANT         8
FT                   /note="G -> W (in dbSNP:rs35379218)"
FT                   /id="VAR_053861"
FT   VARIANT         206
FT                   /note="R -> W (in dbSNP:rs11646443)"
FT                   /id="VAR_053862"
FT   VARIANT         255
FT                   /note="C -> Y (in dbSNP:rs17736370)"
FT                   /id="VAR_053863"
FT   VARIANT         321
FT                   /note="E -> K (in dbSNP:rs4782905)"
FT                   /id="VAR_053864"
FT   VARIANT         325
FT                   /note="G -> R (in dbSNP:rs7196482)"
FT                   /id="VAR_053865"
FT   VARIANT         427
FT                   /note="R -> H (in dbSNP:rs35649980)"
FT                   /id="VAR_053866"
SQ   SEQUENCE   519 AA;  58979 MW;  E5BBA354931AB0A4 CRC64;
     MPMPSRDGGL HPRHHHYGSH SPWSQLLSSP METPSIKGLY YRRVRKVGAL DASPVDLKKE
     ILINVGGRRY LLPWSTLDRF PLSRLSKLRL CRSYEEIVQL CDDYDEDSQE FFFDRSPSAF
     GVIVSFLAAG KLVLLQEMCA LSFQEELAYW GIEEAHLERC CLRKLLRKLE ELEELAKLHR
     EDVLRQQRET RRPASHSSRW GLCMNRLREM VENPQSGLPG KVFACLSILF VATTAVSLCV
     STMPDLRAEE DQGECSRKCY YIFIVETICV AWFSLEFCLR FVQAQDKCQF FQGPLNIIDI
     LAISPYYVSL AVSEEPPEDG ERPSGSSYLE KVGLVLRVLR ALRILYVMRL ARHSLGLQTL
     GLTVRRCTRE FGLLLLFLAV AITLFSPLVY VAEKESGRVL EFTSIPASYW WAIISMTTVG
     YGDMVPRSVP GQMVALSSIL SGILIMAFPA TSIFHTFSHS YLELKKEQEQ LQARLRHLQN
     TGPASECELL DPHVASEHEL MNDVNDLILE GPALPIMHM
 
 
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