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

    Gene ID: 3787, updated on 11-Apr-2024

    Summary

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    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 MIM:602905; AllianceGenome:HGNC:6300
    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]
    Expression
    Biased expression in brain (RPKM 2.8), gall bladder (RPKM 1.3) and 3 other tissues See more
    Orthologs
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    Genomic context

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    Location:
    20q13.12
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (45091214..45101127, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (46827118..46837031, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (43719855..43729768, complement)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12952 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17944 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12953 Neighboring gene STK4 divergent transcript Neighboring gene serine/threonine kinase 4 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12954 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:43743251-43743752 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:43743753-43744252 Neighboring gene WAP four-disulfide core domain 5 Neighboring gene WAP four-disulfide core domain 12

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Multiple chronic pain states are associated with a common amino acid-changing allele in KCNS1. Costigan M, et al. Brain, 2010 Sep. PMID 20724292, Free PMC Article
    2. KCNS1, but not GCH1, is associated with pain intensity in a black southern African population with HIV-associated sensory neuropathy: a genetic association study. Hendry L, et al. J Acquir Immune Defic Syndr, 2013 May 1. PMID 23314412
    3. Variations in potassium channel genes are associated with breast pain in women prior to breast cancer surgery. Langford DJ, et al. J Neurogenet, 2014 Mar-Jun. PMID 24392765, Free PMC Article
    4. Biopsychosocial influence on exercise-induced injury: genetic and psychological combinations are predictive of shoulder pain phenotypes. George SZ, et al. J Pain, 2014 Jan. PMID 24373571, Free PMC Article
    5. Electrically silent potassium channel subunits from human lens epithelium. Shepard AR, et al. Am J Physiol, 1999 Sep. PMID 10484328

    See all (13) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. For KCNS1 rs4499491, individuals homozygous for the rare A allele (CC+ CA versus AA) had a 3.0-fold increase in the odds of reporting preoperative breast pain.
      Title: Variations in potassium channel genes are associated with breast pain in women prior to breast cancer surgery.
    2. There was moderate statistical evidence for interactions shoulder pain phenotypes between KCNS1 and depressive symptoms, pain catastrophizing, or kinesiophobia
      Title: Biopsychosocial influence on exercise-induced injury: genetic and psychological combinations are predictive of shoulder pain phenotypes.
    3. Several haplotypes of population-specific tagSNPs correlated with pain intensity in black southern African population with HIV-associated sensory neuropathy.
      Title: KCNS1, but not GCH1, is associated with pain intensity in a black southern African population with HIV-associated sensory neuropathy: a genetic association study.
    4. Thia study presented the KCNS1 allele rs734784 as one of the first prognostic indicators of chronic pain risk.
      Title: Multiple chronic pain states are associated with a common amino acid-changing allele in KCNS1.
    5. Observational study of gene-disease association. (HuGE Navigator)
      Title: Multiple chronic pain states are associated with a common amino acid-changing allele in KCNS1.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    A genome-wide association study of seasonal pattern mania identifies NF1A as a possible susceptibility gene for bipolar disorder.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables delayed rectifier potassium channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables delayed rectifier potassium channel activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables potassium channel regulator activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in action potential IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in potassium ion transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in potassium ion transport TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in protein homooligomerization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of delayed rectifier potassium channel activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in perinuclear region of cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  
    part_of voltage-gated potassium channel complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of voltage-gated potassium channel complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    potassium voltage-gated channel subfamily S member 1
    Names
    delayed-rectifier K(+) channel alpha subunit 1
    potassium voltage-gated channel, delayed-rectifier, subfamily S, member 1
    voltage-gated potassium channel subunit Kv9.1

    NCBI Reference Sequences (RefSeq)

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    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_001322799.2 → NP_001309728.1  potassium voltage-gated channel subfamily S member 1

      Status: REVIEWED

      Source sequence(s)
      AK289735, CA449742, Z93016
      Consensus CDS
      CCDS13342.1
      UniProtKB/Swiss-Prot
      A2RUL9, B7ZM31, O43652, Q6DJU6, Q96KK3
      UniProtKB/TrEMBL
      A2RUL8
      Related
      ENSP00000445595.1, ENST00000537075.3
      Conserved Domains (4) summary
      smart00225
      Location:54 → 156
      BTB; Broad-Complex, Tramtrack and Bric a brac
      pfam00520
      Location:269 → 468
      Ion_trans; Ion transport protein
      pfam02214
      Location:52 → 151
      BTB_2; BTB/POZ domain
      pfam07885
      Location:378 → 462
      Ion_trans_2; Ion channel

    2. NM_002251.5 → NP_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, CA449742, Z93016
      Consensus CDS
      CCDS13342.1
      UniProtKB/Swiss-Prot
      A2RUL9, B7ZM31, O43652, Q6DJU6, Q96KK3
      UniProtKB/TrEMBL
      A2RUL8
      Related
      ENSP00000307694.1, ENST00000306117.5
      Conserved Domains (4) summary
      smart00225
      Location:54 → 156
      BTB; Broad-Complex, Tramtrack and Bric a brac
      pfam00520
      Location:269 → 468
      Ion_trans; Ion transport protein
      pfam02214
      Location:52 → 151
      BTB_2; BTB/POZ domain
      pfam07885
      Location:378 → 462
      Ion_trans_2; Ion channel

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      45091214..45101127 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      46827118..46837031 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96KK3.2 GenPept UniProtKB/Swiss-Prot:Q96KK3

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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