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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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See KCNS1 in Genome Data Viewer
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

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