LOCUS       NP_004510                872 aa            linear   PRI 27-APR-2025
DEFINITION  potassium voltage-gated channel subfamily KQT member 3 isoform 1
            [Homo sapiens].
ACCESSION   NP_004510
VERSION     NP_004510.1
DBSOURCE    REFSEQ: accession NM_004519.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 872)
  AUTHORS   Jiang,S., Liu,B., Lin,K., Li,L., Li,R., Tan,S., Zhang,X., Jiang,L.,
            Ni,H., Wang,Y., Ding,H., Hu,J., Qian,H. and Ge,R.
  TITLE     Impacted spike frequency adaptation associated with reduction of
            KCNQ2/3 exacerbates seizure activity in temporal lobe epilepsy
  JOURNAL   Hippocampus 34 (2), 58-72 (2024)
   PUBMED   38049972
  REMARK    GeneRIF: Impacted spike frequency adaptation associated with
            reduction of KCNQ2/3 exacerbates seizure activity in temporal lobe
            epilepsy.
REFERENCE   2  (residues 1 to 872)
  AUTHORS   Foley,K., Shorthouse,D., Rahrmann,E., Zhuang,L., Devonshire,G.,
            Gilbertson,R.J., Fitzgerald,R.C. and Hall,B.A.
  CONSRTM   OCCAMS consortium
  TITLE     SMAD4 and KCNQ3 alterations are associated with lymph node
            metastases in oesophageal adenocarcinoma
  JOURNAL   Biochim Biophys Acta Mol Basis Dis 1870 (1), 166867 (2024)
   PUBMED   37648039
  REMARK    GeneRIF: SMAD4 and KCNQ3 alterations are associated with lymph node
            metastases in oesophageal adenocarcinoma.
REFERENCE   3  (residues 1 to 872)
  AUTHORS   Arredondo,K., Myers,C., Hansen-Kiss,E., Mathew,M.T., Jayaraman,V.,
            Siemon,A., Bartholomew,D., Herman,G.E. and Mori,M.
  TITLE     Phenotypic Spectrum in a Family Sharing a Heterozygous KCNQ3
            Variant
  JOURNAL   J Child Neurol 37 (6), 517-523 (2022)
   PUBMED   35384780
  REMARK    GeneRIF: Phenotypic Spectrum in a Family Sharing a Heterozygous
            KCNQ3 Variant.
REFERENCE   4  (residues 1 to 872)
  AUTHORS   Miyake,N., Heydari,S., Garshasbi,M., Saitoh,S., Nasiri,J.,
            Hamanaka,K., Takata,A., Matsumoto,N., Beheshti,F.H. and
            Chaleshtori,A.R.S.
  TITLE     The identification of two pathogenic variants in a family with mild
            and severe forms of developmental delay
  JOURNAL   J Hum Genet 66 (4), 445-448 (2021)
   PUBMED   33037390
  REMARK    GeneRIF: The identification of two pathogenic variants in a family
            with mild and severe forms of developmental delay.
REFERENCE   5  (residues 1 to 872)
  AUTHORS   Wang,H.S., Pan,Z., Shi,W., Brown,B.S., Wymore,R.S., Cohen,I.S.,
            Dixon,J.E. and McKinnon,D.
  TITLE     KCNQ2 and KCNQ3 potassium channel subunits: molecular correlates of
            the M-channel
  JOURNAL   Science 282 (5395), 1890-1893 (1998)
   PUBMED   9836639
REFERENCE   6  (residues 1 to 872)
  AUTHORS   Yang,W.P., Levesque,P.C., Little,W.A., Conder,M.L.,
            Ramakrishnan,P., Neubauer,M.G. and Blanar,M.A.
  TITLE     Functional expression of two KvLQT1-related potassium channels
            responsible for an inherited idiopathic epilepsy
  JOURNAL   J Biol Chem 273 (31), 19419-19423 (1998)
   PUBMED   9677360
REFERENCE   7  (residues 1 to 872)
  AUTHORS   Charlier,C., Singh,N.A., Ryan,S.G., Lewis,T.B., Reus,B.E.,
            Leach,R.J. and Leppert,M.
  TITLE     A pore mutation in a novel KQT-like potassium channel gene in an
            idiopathic epilepsy family
  JOURNAL   Nat Genet 18 (1), 53-55 (1998)
   PUBMED   9425900
REFERENCE   8  (residues 1 to 872)
  AUTHORS   Miceli,F., Soldovieri,M.V., Weckhuysen,S., Cooper,E.C. and
            Taglialatela,M.
  TITLE     KCNQ3-Related Disorders
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   24851285
REFERENCE   9  (residues 1 to 872)
  AUTHORS   Miceli,F., Soldovieri,M.V., Weckhuysen,S., Cooper,E. and
            Taglialatela,M.
  TITLE     KCNQ2-Related Disorders
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20437616
REFERENCE   10 (residues 1 to 872)
  AUTHORS   Ryan,S.G., Wiznitzer,M., Hollman,C., Torres,M.C., Szekeresova,M.
            and Schneider,S.
  TITLE     Benign familial neonatal convulsions: evidence for clinical and
            genetic heterogeneity
  JOURNAL   Ann Neurol 29 (5), 469-473 (1991)
   PUBMED   1859177
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC018540.13, AF033347.1,
            AV728013.1, AC131042.6 and BX538233.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: This gene encodes a protein that functions in the
            regulation of neuronal excitability. The encoded protein forms an
            M-channel by associating with the products of the related KCNQ2 or
            KCNQ5 genes, which both encode integral membrane proteins.
            M-channel currents are inhibited by M1 muscarinic acetylcholine
            receptors and are activated by retigabine, a novel anti-convulsant
            drug. Defects in this gene are a cause of benign familial neonatal
            convulsions type 2 (BFNC2), also known as epilepsy, benign neonatal
            type 2 (EBN2). Alternative splicing of this gene results in
            multiple transcript variants. [provided by RefSeq, May 2014].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1). The 5' extent of
            this variant is inferred based on orthologous alignments.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript 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 :: AF033347.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1966682,
                                           SAMEA1968189 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000388996.10/ ENSP00000373648.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..872
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q24.22"
     Protein         1..872
                     /product="potassium voltage-gated channel subfamily KQT
                     member 3 isoform 1"
                     /note="potassium channel, voltage-gated, subfamily Q,
                     member 3; potassium channel subunit alpha KvLQT3;
                     voltage-gated potassium channel subunit Kv7.3; potassium
                     voltage-gated channel, KQT-like subfamily, member 3;
                     potassium channel, voltage gated KQT-like subfamily Q,
                     member 3"
                     /calculated_mol_wt=96612
     Region          1..43
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O43525.2)"
     Site            81
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:O88944; propagated from
                     UniProtKB/Swiss-Prot (O43525.2)"
     Region          121..363
                     /region_name="Ion_trans"
                     /note="Ion transport protein; pfam00520"
                     /db_xref="CDD:459842"
     Site            121..143
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O43525.2)"
     Site            154..175
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O43525.2)"
     Site            194..213
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O43525.2)"
     Site            226..244
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O43525.2)"
     Site            246
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000269|PubMed:16319223; propagated from
                     UniProtKB/Swiss-Prot (O43525.2)"
     Site            257..282
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O43525.2)"
     Region          316..321
                     /region_name="Selectivity filter. /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (O43525.2)"
     Site            327..353
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O43525.2)"
     Region          356..537
                     /region_name="Mediates interaction with calmodulin.
                     /evidence=ECO:0000269|PubMed:27564677"
                     /note="propagated from UniProtKB/Swiss-Prot (O43525.2)"
     Region          446..650
                     /region_name="KCNQ_channel"
                     /note="KCNQ voltage-gated potassium channel; pfam03520"
                     /db_xref="CDD:460954"
     Region          575..611
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O43525.2)"
     Region          764..872
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O43525.2)"
     Region          770..866
                     /region_name="KCNQC3-Ank-G_bd"
                     /note="Ankyrin-G binding motif of KCNQ2-3; pfam11956"
                     /db_xref="CDD:463411"
     CDS             1..872
                     /gene="KCNQ3"
                     /gene_synonym="BFNC2; EBN2; KV7.3"
                     /coded_by="NM_004519.4:564..3182"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS34943.1"
                     /db_xref="GeneID:3786"
                     /db_xref="HGNC:HGNC:6297"
                     /db_xref="MIM:602232"
ORIGIN      
        1 mglkarraag aaggggdggg ggggaanpag gdaaaagdee rkvglapgdv eqvtlalgag
       61 adkdgtllle gggrdegqrr tpqgigllak tplsrpvkrn nakyrriqtl iydalerprg
      121 wallyhalvf livlgclila vlttfkeyet vsgdwlllle tfaififgae falriwaagc
      181 ccrykgwrgr lkfarkplcm ldifvliasv pvvavgnqgn vlatslrslr flqilrmlrm
      241 drrggtwkll gsaicahske litawyigfl tlilssflvy lvekdvpevd aqgeemkeef
      301 etyadalwwg litlatigyg dktpktwegr liaatfslig vsffalpagi lgsglalkvq
      361 eqhrqkhfek rrkpaaeliq aawryyatnp nridlvatwr fyesvvsfpf frkeqleaas
      421 sqklglldrv rlsnprgsnt kgklftplnv daieespske pkpvglnnke rfrtafrmka
      481 yafwqsseda gtgdpmaedr gygndfpied miptlkaair avrilqfrly kkkfketlrp
      541 ydvkdvieqy saghldmlsr ikylqtridm iftpgppstp khkksqkgsa ftfpsqqspr
      601 nepyvarpst seiedqsmmg kfvkverqvq dmgkkldflv dmhmqhmerl qvqvteyypt
      661 kgtsspaeae kkednrysdl ktiicnyset gppeppysfh qvtidkvspy gffahdpvnl
      721 prggpssgkv qatppssatt yverptvlpi ltlldsrvsc hsqadlqgpy sdrisprqrr
      781 sitrdsdtpl slmsvnheel erspsgfsis qdrddyvfgp nggsswmrek rylaegetdt
      841 dtdpftpsgs mplsstgdgi sdsvwtpsnk pi
//
