KCNA7_HUMAN
ID KCNA7_HUMAN Reviewed; 456 AA.
AC Q96RP8; A1KYX7; Q9BYS4;
DT 23-OCT-2007, integrated into UniProtKB/Swiss-Prot.
DT 01-DEC-2001, sequence version 1.
DT 03-AUG-2022, entry version 142.
DE RecName: Full=Potassium voltage-gated channel subfamily A member 7;
DE AltName: Full=Voltage-gated potassium channel subunit Kv1.7;
GN Name=KCNA7;
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], VARIANT THR-418, AND TISSUE SPECIFICITY.
RC TISSUE=Heart;
RX PubMed=11368907; DOI=10.1016/s0378-1119(01)00423-1;
RA Kashuba V.I., Kvasha S.M., Protopopov A.I., Gizatullin R.Z., Rynditch A.V.,
RA Wahlestedt C., Wasserman W.W., Zabarovsky E.R.;
RT "Initial isolation and analysis of the human Kv1.7 (KCNA7) gene, a member
RT of the voltage-gated potassium channel gene family.";
RL Gene 268:115-122(2001).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA], VARIANTS ARG-189 AND THR-418, AND TISSUE
RP SPECIFICITY.
RX PubMed=11896454; DOI=10.1038/sj.ejhg.5200739;
RA Bardien-Kruger S., Wulff H., Arieff Z., Brink P., Chandy K.G., Corfield V.;
RT "Characterisation of the human voltage-gated potassium channel gene, KCNA7,
RT a candidate gene for inherited cardiac disorders, and its exclusion as
RT cause of progressive familial heart block I (PFHBI).";
RL Eur. J. Hum. Genet. 10:36-43(2002).
RN [3]
RP NUCLEOTIDE SEQUENCE [MRNA], AND VARIANT ARG-189.
RC TISSUE=Heart muscle;
RA Finol-Urdaneta R.K., Struever N., Terlau H.;
RL Submitted (OCT-2004) to the EMBL/GenBank/DDBJ databases.
CC -!- FUNCTION: Mediates the voltage-dependent potassium ion permeability of
CC excitable membranes. Assuming opened or closed conformations in
CC response to the voltage difference across the membrane, the protein
CC forms a potassium-selective channel through which potassium ions may
CC pass in accordance with their electrochemical gradient (By similarity).
CC {ECO:0000250}.
CC -!- SUBUNIT: Heterotetramer of potassium channel proteins. {ECO:0000250}.
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000250}; Multi-pass membrane
CC protein {ECO:0000250}.
CC -!- TISSUE SPECIFICITY: Highly expressed in skeletal muscle, heart and
CC kidney. {ECO:0000269|PubMed:11368907, ECO:0000269|PubMed:11896454}.
CC -!- DOMAIN: The N-terminus may be important in determining the rate of
CC inactivation of the channel while the tail may play a role in
CC modulation of channel activity and/or targeting of the channel to
CC specific subcellular compartments. {ECO:0000250}.
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. {ECO:0000250}.
CC -!- SIMILARITY: Belongs to the potassium channel family. A (Shaker) (TC
CC 1.A.1.2) subfamily. Kv1.7/KCNA7 sub-subfamily. {ECO:0000305}.
CC ---------------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC ---------------------------------------------------------------------------
DR EMBL; AJ310479; CAC29065.1; -; mRNA.
DR EMBL; AF315818; AAK63002.1; -; mRNA.
DR EMBL; AY779768; AAX11186.1; -; mRNA.
DR CCDS; CCDS12755.1; -.
DR RefSeq; NP_114092.2; NM_031886.2.
DR AlphaFoldDB; Q96RP8; -.
DR SMR; Q96RP8; -.
DR STRING; 9606.ENSP00000221444; -.
DR ChEMBL; CHEMBL2773; -.
DR DrugBank; DB06637; Dalfampridine.
DR DrugCentral; Q96RP8; -.
DR GuidetoPHARMACOLOGY; 544; -.
DR GlyGen; Q96RP8; 1 site.
DR iPTMnet; Q96RP8; -.
DR PhosphoSitePlus; Q96RP8; -.
DR BioMuta; KCNA7; -.
DR DMDM; 74752109; -.
DR MassIVE; Q96RP8; -.
DR PaxDb; Q96RP8; -.
DR PeptideAtlas; Q96RP8; -.
DR PRIDE; Q96RP8; -.
DR Antibodypedia; 18500; 79 antibodies from 21 providers.
DR DNASU; 3743; -.
DR Ensembl; ENST00000221444.2; ENSP00000221444.1; ENSG00000104848.2.
DR GeneID; 3743; -.
DR KEGG; hsa:3743; -.
DR MANE-Select; ENST00000221444.2; ENSP00000221444.1; NM_031886.3; NP_114092.2.
DR UCSC; uc002pmg.3; human.
DR CTD; 3743; -.
DR DisGeNET; 3743; -.
DR GeneCards; KCNA7; -.
DR HGNC; HGNC:6226; KCNA7.
DR HPA; ENSG00000104848; Group enriched (skeletal muscle, tongue).
DR MIM; 176268; gene.
DR neXtProt; NX_Q96RP8; -.
DR OpenTargets; ENSG00000104848; -.
DR PharmGKB; PA30023; -.
DR VEuPathDB; HostDB:ENSG00000104848; -.
DR eggNOG; KOG1545; Eukaryota.
DR GeneTree; ENSGT00940000162339; -.
DR HOGENOM; CLU_011722_4_1_1; -.
DR InParanoid; Q96RP8; -.
DR OMA; MPFDDPF; -.
DR OrthoDB; 818306at2759; -.
DR PhylomeDB; Q96RP8; -.
DR TreeFam; TF313103; -.
DR PathwayCommons; Q96RP8; -.
DR Reactome; R-HSA-1296072; Voltage gated Potassium channels.
DR BioGRID-ORCS; 3743; 14 hits in 1065 CRISPR screens.
DR GeneWiki; KCNA7; -.
DR GenomeRNAi; 3743; -.
DR Pharos; Q96RP8; Tclin.
DR PRO; PR:Q96RP8; -.
DR Proteomes; UP000005640; Chromosome 19.
DR RNAct; Q96RP8; protein.
DR Bgee; ENSG00000104848; Expressed in skeletal muscle tissue of rectus abdominis and 34 other tissues.
DR Genevisible; Q96RP8; HS.
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:0005251; F:delayed rectifier potassium channel activity; IBA:GO_Central.
DR GO; GO:0005249; F:voltage-gated potassium channel activity; IBA:GO_Central.
DR GO; GO:0071805; P:potassium ion transmembrane transport; IBA:GO_Central.
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; IPR000210; BTB/POZ_dom.
DR InterPro; IPR005821; Ion_trans_dom.
DR InterPro; IPR003968; K_chnl_volt-dep_Kv.
DR InterPro; IPR003972; K_chnl_volt-dep_Kv1.
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; PR01491; KVCHANNEL.
DR PRINTS; PR01496; SHAKERCHANEL.
DR SMART; SM00225; BTB; 1.
DR SUPFAM; SSF54695; SSF54695; 1.
PE 2: Evidence at transcript level;
KW Glycoprotein; Ion channel; Ion transport; Lipoprotein; Membrane; Palmitate;
KW Potassium; Potassium channel; Potassium transport; Reference proteome;
KW Transmembrane; Transmembrane helix; Transport; Voltage-gated channel.
FT CHAIN 1..456
FT /note="Potassium voltage-gated channel subfamily A member
FT 7"
FT /id="PRO_0000308273"
FT TRANSMEM 144..164
FT /note="Helical; Name=Segment S1"
FT /evidence="ECO:0000255"
FT TRANSMEM 209..229
FT /note="Helical; Name=Segment S2"
FT /evidence="ECO:0000255"
FT TRANSMEM 241..261
FT /note="Helical; Name=Segment S3"
FT /evidence="ECO:0000255"
FT TRANSMEM 276..295
FT /note="Helical; Voltage-sensor; Name=Segment S4"
FT /evidence="ECO:0000255"
FT TRANSMEM 312..332
FT /note="Helical; Name=Segment S5"
FT /evidence="ECO:0000255"
FT TRANSMEM 373..393
FT /note="Helical; Name=Segment S6"
FT /evidence="ECO:0000255"
FT MOTIF 358..363
FT /note="Selectivity filter"
FT /evidence="ECO:0000250"
FT LIPID 231
FT /note="S-palmitoyl cysteine"
FT /evidence="ECO:0000255"
FT CARBOHYD 191
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT VARIANT 189
FT /note="P -> R (in dbSNP:rs1611775)"
FT /evidence="ECO:0000269|PubMed:11896454, ECO:0000269|Ref.3"
FT /id="VAR_036776"
FT VARIANT 418
FT /note="M -> T (in dbSNP:rs1017219)"
FT /evidence="ECO:0000269|PubMed:11368907,
FT ECO:0000269|PubMed:11896454"
FT /id="VAR_036777"
FT CONFLICT 71
FT /note="Y -> H (in Ref. 3; AAX11186)"
FT /evidence="ECO:0000305"
FT CONFLICT 180
FT /note="A -> V (in Ref. 3; AAX11186)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 456 AA; 50559 MW; EF9980CF54D52FB8 CRC64;
MEPRCPPPCG CCERLVLNVA GLRFETRART LGRFPDTLLG DPARRGRFYD DARREYFFDR
HRPSFDAVLY YYQSGGRLRR PAHVPLDVFL EEVAFYGLGA AALARLREDE GCPVPPERPL
PRRAFARQLW LLFEFPESSQ AARVLAVVSV LVILVSIVVF CLETLPDFRD DRDGTGLAAA
AAAGPFPAPL NGSSQMPGNP PRLPFNDPFF VVETLCICWF SFELLVRLLV CPSKAIFFKN
VMNLIDFVAI LPYFVALGTE LARQRGVGQQ AMSLAILRVI RLVRVFRIFK LSRHSKGLQI
LGQTLRASMR ELGLLIFFLF IGVVLFSSAV YFAEVDRVDS HFTSIPESFW WAVVTMTTVG
YGDMAPVTVG GKIVGSLCAI AGVLTISLPV PVIVSNFSYF YHRETEGEEA GMFSHVDMQP
CGPLEGKANG GLVDGEVPEL PPPLWAPPGK HLVTEV
