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    KCNS1 potassium voltage-gated channel modifier subfamily S member 1 [ Homo sapiens (human) ]

    Gene ID: 3787, updated on 5-Feb-2016
    Official Symbol
    KCNS1provided by HGNC
    Official Full Name
    potassium voltage-gated channel modifier subfamily S member 1provided by HGNC
    Primary source
    HGNC:HGNC:6300
    See related
    Ensembl:ENSG00000124134; HPRD:04214; MIM:602905; Vega:OTTHUMG00000033079
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    KV9.1
    Summary
    Voltage-gated potassium channels form the largest and most diversified class of ion channels and are present in both excitable and nonexcitable cells. Their main functions are associated with the regulation of the resting membrane potential and the control of the shape and frequency of action potentials. The alpha subunits are of 2 types: those that are functional by themselves and those that are electrically silent but capable of modulating the activity of specific functional alpha subunits. The protein encoded by this gene is not functional by itself but can form heteromultimers with member 1 and with member 2 (and possibly other members) of the Shab-related subfamily of potassium voltage-gated channel proteins. This gene belongs to the S subfamily of the potassium channel family. [provided by RefSeq, Jul 2008]
    Orthologs
    See KCNS1 in Epigenomics, MapViewer
    Location:
    20q12
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 20 NC_000020.11 (45092072..45101112, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (43720950..43729753, complement)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene STK4 antisense RNA 1 (head to head) Neighboring gene serine/threonine kinase 4 Neighboring gene WAP four-disulfide core domain 5 Neighboring gene WAP four-disulfide core domain 12

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    A genome-wide association study of seasonal pattern mania identifies NF1A as a possible susceptibility gene for bipolar disorder.
    NHGRI GWA Catalog
    • Neuronal System, organism-specific biosystem (from REACTOME)
      Neuronal System, organism-specific biosystemThe human brain contains at least 100 billion neurons, each with the ability to influence many other cells. Clearly, highly sophisticated and efficient mechanisms are needed to enable communication a...
    • Potassium Channels, organism-specific biosystem (from REACTOME)
      Potassium Channels, organism-specific biosystemPotassium channels are tetrameric ion channels that are widely distributed and are found in all cell types. Potassium channels control resting membrane potential in neurons, contribute to regulation ...
    • Voltage gated Potassium channels, organism-specific biosystem (from REACTOME)
      Voltage gated Potassium channels, organism-specific biosystemVoltage-gated K+ channels (Kv) determine the excitability of heart, brain and skeletal muscle cells. Kv form octameric channel with alpha subunits that forms the pore of the channel and associated be...

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    delayed rectifier potassium channel activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    potassium channel regulator activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    potassium ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    potassium ion transport TAS
    Traceable Author Statement
    more info
    PubMed 
    protein homooligomerization IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of delayed rectifier potassium channel activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    synaptic transmission TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    perinuclear region of cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    voltage-gated potassium channel complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    potassium voltage-gated channel subfamily S member 1
    Names
    delayed-rectifier K(+) channel alpha subunit 1
    delayed-rectifier K+ channel alpha subunit 1
    potassium voltage-gated channel, delayed-rectifier, subfamily S, member 1
    potassium voltage-gated channel, modifier subfamily S, member 1
    voltage-gated potassium channel protein Kv9.1
    voltage-gated potassium channel subunit Kv9.1

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_002251.3NP_002242.2  potassium voltage-gated channel subfamily S member 1

      See identical proteins and their annotated locations for NP_002242.2

      Status: REVIEWED

      Source sequence(s)
      AF043473
      Consensus CDS
      CCDS13342.1
      UniProtKB/TrEMBL
      A2RUL8
      UniProtKB/Swiss-Prot
      Q96KK3
      Related
      ENSP00000307694, OTTHUMP00000031783, ENST00000306117, OTTHUMT00000080507
      Conserved Domains (3) summary
      pfam00520
      Location:275456
      Ion_trans; Ion transport protein
      pfam02214
      Location:52151
      BTB_2; BTB/POZ domain
      pfam07885
      Location:383457
      Ion_trans_2; Ion channel

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p2 Primary Assembly

      Range
      45092072..45101112 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005260409.3XP_005260466.1  

      See identical proteins and their annotated locations for XP_005260466.1

      UniProtKB/TrEMBL
      A2RUL8
      UniProtKB/Swiss-Prot
      Q96KK3
      Conserved Domains (3) summary
      pfam00520
      Location:275456
      Ion_trans; Ion transport protein
      pfam02214
      Location:52151
      BTB_2; BTB/POZ domain
      pfam07885
      Location:383457
      Ion_trans_2; Ion channel

    Alternate CHM1_1.1

    Genomic

    1. NC_018931.2 Alternate CHM1_1.1

      Range
      43623697..43632500 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)