Potassium voltage-gated channel subfamily E regulatory beta subunit 5

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functionⁱ

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functionⁱ

• ion channel binding Source: BHF-UCL <p>Inferred from Physical Interaction</p> <p>Covers physical interactions between the gene product of interest and another molecule (or ion, or complex).</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ipi">GO evidence code guide</a></p> Inferred from physical interactionⁱ
  • Ref.6

    "KCNE5 induces time- and voltage-dependent modulation of the KCNQ1 current."
    Angelo K., Jespersen T., Grunnet M., Nielsen M.S., Klaerke D.A., Olesen S.P.
    Biophys. J. 83:1997-2006(2002) [PubMed] [Europe PMC] [Abstract]

    Cited for: INTERACTION WITH KCNQ1, FUNCTION.
• potassium channel regulator activity Source: BHF-UCL <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayⁱ
  • Ref.6

    "KCNE5 induces time- and voltage-dependent modulation of the KCNQ1 current."
    Angelo K., Jespersen T., Grunnet M., Nielsen M.S., Klaerke D.A., Olesen S.P.
    Biophys. J. 83:1997-2006(2002) [PubMed] [Europe PMC] [Abstract]

    Cited for: INTERACTION WITH KCNQ1, FUNCTION.
  • Ref.10

    "Gain of function in IKs secondary to a mutation in KCNE5 associated with atrial fibrillation."
    Ravn L.S., Aizawa Y., Pollevick G.D., Hofman-Bang J., Cordeiro J.M., Dixen U., Jensen G., Wu Y., Burashnikov E., Haunso S., Guerchicoff A., Hu D., Svendsen J.H., Christiansen M., Antzelevitch C.
    Heart Rhythm 5:427-435(2008) [PubMed] [Europe PMC] [Abstract]

    Cited for: VARIANT PHE-65, CHARACTERIZATION OF VARIANT PHE-65.
  • Ref.11

    "KCNE5 (KCNE1L) variants are novel modulators of Brugada syndrome and idiopathic ventricular fibrillation."
    Ohno S., Zankov D.P., Ding W.G., Itoh H., Makiyama T., Doi T., Shizuta S., Hattori T., Miyamoto A., Naiki N., Hancox J.C., Matsuura H., Horie M.
    Circ. Arrhythm. Electrophysiol. 4:352-361(2011) [PubMed] [Europe PMC] [Abstract]

    Cited for: VARIANT HIS-81, CHARACTERIZATION OF VARIANT HIS-81.
• voltage-gated potassium channel activity Source: InterPro

GO - Biological processⁱ

• atrial cardiac muscle cell action potential Source: BHF-UCL <p>Inferred from Mutant Phenotype</p> <p>Describes annotations that are concluded from looking at variations or changes in a gene product such as mutations or abnormal levels and includes techniques such as knockouts, overexpression, anti-sense experiments and use of specific protein inhibitors.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#imp">GO evidence code guide</a></p> Inferred from mutant phenotypeⁱ
  • Ref.10

    "Gain of function in IKs secondary to a mutation in KCNE5 associated with atrial fibrillation."
    Ravn L.S., Aizawa Y., Pollevick G.D., Hofman-Bang J., Cordeiro J.M., Dixen U., Jensen G., Wu Y., Burashnikov E., Haunso S., Guerchicoff A., Hu D., Svendsen J.H., Christiansen M., Antzelevitch C.
    Heart Rhythm 5:427-435(2008) [PubMed] [Europe PMC] [Abstract]

    Cited for: VARIANT PHE-65, CHARACTERIZATION OF VARIANT PHE-65.
• cardiac muscle contraction Source: BHF-UCLInferred from mutant phenotypeⁱ
  • Ref.10

    "Gain of function in IKs secondary to a mutation in KCNE5 associated with atrial fibrillation."
    Ravn L.S., Aizawa Y., Pollevick G.D., Hofman-Bang J., Cordeiro J.M., Dixen U., Jensen G., Wu Y., Burashnikov E., Haunso S., Guerchicoff A., Hu D., Svendsen J.H., Christiansen M., Antzelevitch C.
    Heart Rhythm 5:427-435(2008) [PubMed] [Europe PMC] [Abstract]

    Cited for: VARIANT PHE-65, CHARACTERIZATION OF VARIANT PHE-65.
• membrane repolarization during action potential Source: GO_Central <p>Inferred from Biological aspect of Ancestor</p> <p>A type of phylogenetic evidence whereby an aspect of a descendent is inferred through the characterization of an aspect of a ancestral gene.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#iba">GO evidence code guide</a></p> Inferred from biological aspect of ancestorⁱ
  • "Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium."
    Gaudet P., Livstone M.S., Lewis S.E., Thomas P.D.
    Brief Bioinform 12:449-462(2011) [PubMed] [Europe PMC] [Abstract]
• membrane repolarization during ventricular cardiac muscle cell action potential Source: GOC
• negative regulation of delayed rectifier potassium channel activity Source: GO_CentralInferred from biological aspect of ancestorⁱ
  • "Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium."
    Gaudet P., Livstone M.S., Lewis S.E., Thomas P.D.
    Brief Bioinform 12:449-462(2011) [PubMed] [Europe PMC] [Abstract]
• negative regulation of potassium ion export across plasma membrane Source: BHF-UCLInferred from direct assayⁱ
  • Ref.10

    "Gain of function in IKs secondary to a mutation in KCNE5 associated with atrial fibrillation."
    Ravn L.S., Aizawa Y., Pollevick G.D., Hofman-Bang J., Cordeiro J.M., Dixen U., Jensen G., Wu Y., Burashnikov E., Haunso S., Guerchicoff A., Hu D., Svendsen J.H., Christiansen M., Antzelevitch C.
    Heart Rhythm 5:427-435(2008) [PubMed] [Europe PMC] [Abstract]

    Cited for: VARIANT PHE-65, CHARACTERIZATION OF VARIANT PHE-65.
• negative regulation of potassium ion transmembrane transport Source: BHF-UCLInferred from direct assayⁱ
  • Ref.6

    "KCNE5 induces time- and voltage-dependent modulation of the KCNQ1 current."
    Angelo K., Jespersen T., Grunnet M., Nielsen M.S., Klaerke D.A., Olesen S.P.
    Biophys. J. 83:1997-2006(2002) [PubMed] [Europe PMC] [Abstract]

    Cited for: INTERACTION WITH KCNQ1, FUNCTION.
  • Ref.10

    "Gain of function in IKs secondary to a mutation in KCNE5 associated with atrial fibrillation."
    Ravn L.S., Aizawa Y., Pollevick G.D., Hofman-Bang J., Cordeiro J.M., Dixen U., Jensen G., Wu Y., Burashnikov E., Haunso S., Guerchicoff A., Hu D., Svendsen J.H., Christiansen M., Antzelevitch C.
    Heart Rhythm 5:427-435(2008) [PubMed] [Europe PMC] [Abstract]

    Cited for: VARIANT PHE-65, CHARACTERIZATION OF VARIANT PHE-65.
• positive regulation of potassium ion transmembrane transport Source: BHF-UCLInferred from direct assayⁱ
  • Ref.6

    "KCNE5 induces time- and voltage-dependent modulation of the KCNQ1 current."
    Angelo K., Jespersen T., Grunnet M., Nielsen M.S., Klaerke D.A., Olesen S.P.
    Biophys. J. 83:1997-2006(2002) [PubMed] [Europe PMC] [Abstract]

    Cited for: INTERACTION WITH KCNQ1, FUNCTION.
• potassium ion export across plasma membrane Source: GO_CentralInferred from biological aspect of ancestorⁱ
  • "Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium."
    Gaudet P., Livstone M.S., Lewis S.E., Thomas P.D.
    Brief Bioinform 12:449-462(2011) [PubMed] [Europe PMC] [Abstract]
• regulation of atrial cardiac muscle cell membrane repolarization Source: BHF-UCLInferred from mutant phenotypeⁱ
  • Ref.10

    "Gain of function in IKs secondary to a mutation in KCNE5 associated with atrial fibrillation."
    Ravn L.S., Aizawa Y., Pollevick G.D., Hofman-Bang J., Cordeiro J.M., Dixen U., Jensen G., Wu Y., Burashnikov E., Haunso S., Guerchicoff A., Hu D., Svendsen J.H., Christiansen M., Antzelevitch C.
    Heart Rhythm 5:427-435(2008) [PubMed] [Europe PMC] [Abstract]

    Cited for: VARIANT PHE-65, CHARACTERIZATION OF VARIANT PHE-65.
• regulation of cation channel activity Source: BHF-UCLInferred from direct assayⁱ
  • Ref.11

    "KCNE5 (KCNE1L) variants are novel modulators of Brugada syndrome and idiopathic ventricular fibrillation."
    Ohno S., Zankov D.P., Ding W.G., Itoh H., Makiyama T., Doi T., Shizuta S., Hattori T., Miyamoto A., Naiki N., Hancox J.C., Matsuura H., Horie M.
    Circ. Arrhythm. Electrophysiol. 4:352-361(2011) [PubMed] [Europe PMC] [Abstract]

    Cited for: VARIANT HIS-81, CHARACTERIZATION OF VARIANT HIS-81.
• regulation of heart contraction Source: BHF-UCLInferred from mutant phenotypeⁱ
  • Ref.10

    "Gain of function in IKs secondary to a mutation in KCNE5 associated with atrial fibrillation."
    Ravn L.S., Aizawa Y., Pollevick G.D., Hofman-Bang J., Cordeiro J.M., Dixen U., Jensen G., Wu Y., Burashnikov E., Haunso S., Guerchicoff A., Hu D., Svendsen J.H., Christiansen M., Antzelevitch C.
    Heart Rhythm 5:427-435(2008) [PubMed] [Europe PMC] [Abstract]

    Cited for: VARIANT PHE-65, CHARACTERIZATION OF VARIANT PHE-65.
• regulation of heart rate by cardiac conduction Source: BHF-UCLInferred from mutant phenotypeⁱ
  • Ref.10

    "Gain of function in IKs secondary to a mutation in KCNE5 associated with atrial fibrillation."
    Ravn L.S., Aizawa Y., Pollevick G.D., Hofman-Bang J., Cordeiro J.M., Dixen U., Jensen G., Wu Y., Burashnikov E., Haunso S., Guerchicoff A., Hu D., Svendsen J.H., Christiansen M., Antzelevitch C.
    Heart Rhythm 5:427-435(2008) [PubMed] [Europe PMC] [Abstract]

    Cited for: VARIANT PHE-65, CHARACTERIZATION OF VARIANT PHE-65.
  • Ref.11

    "KCNE5 (KCNE1L) variants are novel modulators of Brugada syndrome and idiopathic ventricular fibrillation."
    Ohno S., Zankov D.P., Ding W.G., Itoh H., Makiyama T., Doi T., Shizuta S., Hattori T., Miyamoto A., Naiki N., Hancox J.C., Matsuura H., Horie M.
    Circ. Arrhythm. Electrophysiol. 4:352-361(2011) [PubMed] [Europe PMC] [Abstract]

    Cited for: VARIANT HIS-81, CHARACTERIZATION OF VARIANT HIS-81.
• regulation of membrane repolarization Source: BHF-UCLInferred from direct assayⁱ
  • Ref.11

    "KCNE5 (KCNE1L) variants are novel modulators of Brugada syndrome and idiopathic ventricular fibrillation."
    Ohno S., Zankov D.P., Ding W.G., Itoh H., Makiyama T., Doi T., Shizuta S., Hattori T., Miyamoto A., Naiki N., Hancox J.C., Matsuura H., Horie M.
    Circ. Arrhythm. Electrophysiol. 4:352-361(2011) [PubMed] [Europe PMC] [Abstract]

    Cited for: VARIANT HIS-81, CHARACTERIZATION OF VARIANT HIS-81.
• regulation of potassium ion transmembrane transport Source: BHF-UCLInferred from direct assayⁱ
  • Ref.6

    "KCNE5 induces time- and voltage-dependent modulation of the KCNQ1 current."
    Angelo K., Jespersen T., Grunnet M., Nielsen M.S., Klaerke D.A., Olesen S.P.
    Biophys. J. 83:1997-2006(2002) [PubMed] [Europe PMC] [Abstract]

    Cited for: INTERACTION WITH KCNQ1, FUNCTION.
  • Ref.11

    "KCNE5 (KCNE1L) variants are novel modulators of Brugada syndrome and idiopathic ventricular fibrillation."
    Ohno S., Zankov D.P., Ding W.G., Itoh H., Makiyama T., Doi T., Shizuta S., Hattori T., Miyamoto A., Naiki N., Hancox J.C., Matsuura H., Horie M.
    Circ. Arrhythm. Electrophysiol. 4:352-361(2011) [PubMed] [Europe PMC] [Abstract]

    Cited for: VARIANT HIS-81, CHARACTERIZATION OF VARIANT HIS-81.
• regulation of ventricular cardiac muscle cell membrane repolarization Source: BHF-UCLInferred from mutant phenotypeⁱ
  • Ref.11

    "KCNE5 (KCNE1L) variants are novel modulators of Brugada syndrome and idiopathic ventricular fibrillation."
    Ohno S., Zankov D.P., Ding W.G., Itoh H., Makiyama T., Doi T., Shizuta S., Hattori T., Miyamoto A., Naiki N., Hancox J.C., Matsuura H., Horie M.
    Circ. Arrhythm. Electrophysiol. 4:352-361(2011) [PubMed] [Europe PMC] [Abstract]

    Cited for: VARIANT HIS-81, CHARACTERIZATION OF VARIANT HIS-81.
• ventricular cardiac muscle cell action potential Source: BHF-UCLInferred from mutant phenotypeⁱ
  • Ref.11

    "KCNE5 (KCNE1L) variants are novel modulators of Brugada syndrome and idiopathic ventricular fibrillation."
    Ohno S., Zankov D.P., Ding W.G., Itoh H., Makiyama T., Doi T., Shizuta S., Hattori T., Miyamoto A., Naiki N., Hancox J.C., Matsuura H., Horie M.
    Circ. Arrhythm. Electrophysiol. 4:352-361(2011) [PubMed] [Europe PMC] [Abstract]

    Cited for: VARIANT HIS-81, CHARACTERIZATION OF VARIANT HIS-81.

Enzyme and pathway databases

Protein family/group databases

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyⁱ

Organism-specific databases

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationⁱ

• UniProt annotation
• GO - Cellular component

Topology

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Cellular componentⁱ

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechⁱ

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseaseⁱ

Keywords - Diseaseⁱ

Organism-specific databases

Miscellaneous databases

Chemistry databases

Genetic variation databases

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingⁱ

Molecule processing

Amino acid modifications

Keywords - PTMⁱ

Proteomic databases

PTM databases

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressionⁱ

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityⁱ

Gene expression databases

Organism-specific databases

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactionⁱ

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structureⁱ

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsⁱ

GO - Molecular functionⁱ

• ion channel binding Source: BHF-UCLInferred from physical interactionⁱ
  • Ref.6

    "KCNE5 induces time- and voltage-dependent modulation of the KCNQ1 current."
    Angelo K., Jespersen T., Grunnet M., Nielsen M.S., Klaerke D.A., Olesen S.P.
    Biophys. J. 83:1997-2006(2002) [PubMed] [Europe PMC] [Abstract]

    Cited for: INTERACTION WITH KCNQ1, FUNCTION.

Protein-protein interaction databases

Miscellaneous databases

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structureⁱ

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsⁱ

Region

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesⁱ

Keywords - Domainⁱ

Phylogenomic databases

Family and domain databases

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequenceⁱ

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusⁱ: Complete.

        10         20         30         40         50
MNCSESQRLR TLLSRLLLEL HHRGNASGLG AGPRPSMGMG VVPDPFVGRE 
        60         70         80         90        100
VTSAKGDDAY LYILLIMIFY ACLAGGLILA YTRSRKLVEA KDEPSQACAE 
       110        120        130        140 
HEWAPGGALT ADAEAAAGSQ AEGRRQLASE GLPALAQGAE RV         

Natural variant

Sequence databases

Genome annotation databases

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsⁱ

• 100% Identity
• 90% Identity
• 50% Identity

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesⁱ

Sequence databases

3D structure databases

Protein-protein interaction databases

Chemistry databases

Protein family/group databases

PTM databases

Genetic variation databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationⁱ

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousⁱ

Keywords - Technical termⁱ

Documents

1. Human chromosome X
   Human chromosome X: entries, gene names and cross-references to MIM
2. Human entries with genetic variants
   List of human entries with genetic variants
3. Human variants curated from literature reports
   Index of human variants curated from literature reports
4. MIM cross-references
   Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
5. SIMILARITY comments
   Index of protein domains and families