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

Summary

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: mouse all
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Genomic context

Location:: 20q13.12

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (45091214..45101127, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (46827118..46837031, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (43719855..43729768, complement)

Chromosome 20 - NC_000020.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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 EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

KCNS1_1320 (e-PCR)
- UniSTS:280809

KCNS1_v408 (e-PCR)
- UniSTS:280809

NoName (e-PCR)
- UniSTS:482303

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables potassium channel regulator activity	IBA Inferred from Biological aspect of Ancestor more info
enables potassium channel regulator activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables voltage-gated potassium channel activity	IEA Inferred from Electronic Annotation more info

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 potassium ion transmembrane transport	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of potassium ion transmembrane transport	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)

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
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