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... See more...

Aliases for KCNS1 Gene

Aliases for KCNS1 Gene

  • Potassium Voltage-Gated Channel Modifier Subfamily S Member 1 2 3 5
  • Potassium Voltage-Gated Channel, Delayed-Rectifier, Subfamily S, Member 1 2 3
  • Potassium Voltage-Gated Channel Subfamily S Member 1 3 4
  • Delayed-Rectifier K(+) Channel Alpha Subunit 1 3 4
  • Voltage-Gated Potassium Channel Subunit Kv9.1 3 4
  • Potassium Voltage-Gated Channel, Modifier Subfamily S, Member 1 2
  • Kv9.1 3

External Ids for KCNS1 Gene

Previous GeneCards Identifiers for KCNS1 Gene

  • GC20M043449
  • GC20M043409
  • GC20M044359
  • GC20M044406
  • GC20M043154
  • GC20M043720
  • GC20M040462

Summaries for KCNS1 Gene

Entrez Gene Summary for KCNS1 Gene

  • 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]

GeneCards Summary for KCNS1 Gene

KCNS1 (Potassium Voltage-Gated Channel Modifier Subfamily S Member 1) is a Protein Coding gene. Diseases associated with KCNS1 include Autoimmune Neuropathy. Among its related pathways are Transmission across Chemical Synapses and Potassium Channels. Gene Ontology (GO) annotations related to this gene include ion channel activity and delayed rectifier potassium channel activity. An important paralog of this gene is KCNS2.

UniProtKB/Swiss-Prot Summary for KCNS1 Gene

  • Potassium channel subunit that does not form functional channels by itself. Can form functional heterotetrameric channels with KCNB1 and KCNB2; modulates the delayed rectifier voltage-gated potassium channel activation and deactivation rates of KCNB1 and KCNB2 (PubMed:10484328).

Tocris Summary for KCNS1 Gene

  • Voltage-gated potassium channels (KV) belong to the 6-TM family of potassium channel that also comprises the Ca2+-activated Slo (actually 7-TM) and the Ca2+-activated SK subfamilies. The alpha-subunits contain a single pore-forming region and combine to form tetramers.

Gene Wiki entry for KCNS1 Gene

Additional gene information for KCNS1 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KCNS1 Gene

Genomics for KCNS1 Gene

GeneHancer (GH) Regulatory Elements for KCNS1 Gene

Promoters and enhancers for KCNS1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH20J045100 Promoter/Enhancer 1.2 EPDnew Ensembl dbSUPER 750.6 +0.1 126 0.8 ELF3 AHR GATAD2A EZH2 GATAD1 SMAD4 ARID4B XRCC5 KLF16 ZNF48 KCNS1 piR-55985-113
GH20J045101 Enhancer 0.6 Ensembl dbSUPER 750.6 -0.6 -574 0.2 MNT EZH2 RXRA KCNS1 SLPI WFDC5
GH20J045032 Enhancer 1.5 Ensembl ENCODE CraniofacialAtlas dbSUPER 17.7 +57.5 57526 22.4 ZNF24 SP1 CTCF SMARCE1 POLR2A CC2D1A CEBPB MAX RAD21 TEAD4 KCNS1 KCNK15-AS1 WFDC5 PABPC1L MATN4 RBPJL RIMS4 STK4 WFDC12 YWHAB
GH20J045068 Enhancer 1.3 Ensembl ENCODE dbSUPER 15.7 +30.4 30372 3.7 SMARCE1 POLR2A DACH1 TEAD4 CBFA2T2 BACH1 SP7 ZSCAN21 SMARCA4 ZNF639 KCNS1 PCIF1 ZNF335 WFDC5 SYS1 DNTTIP1 STK4 piR-54189 piR-43105-383
GH20J045059 Enhancer 1 Ensembl ENCODE dbSUPER 19.4 +38.8 38826 7.8 POLR2A ZSCAN21 BRCA1 SMARCA4 CEBPB JUN RCOR1 JUND MAX EP300 KCNS1 WFDC5 STK4 TOMM34 piR-54189 piR-43105-383
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KCNS1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the KCNS1 gene promoter:
  • AhR
  • Arnt
  • C/EBPalpha
  • E2F
  • E2F-1
  • Pax-5
  • STAT1
  • STAT1alpha
  • STAT1beta
  • TBP

Genomic Locations for KCNS1 Gene

Genomic Locations for KCNS1 Gene
chr20:45,091,214-45,101,127
(GRCh38/hg38)
Size:
9,914 bases
Orientation:
Minus strand
chr20:43,720,950-43,729,753
(GRCh37/hg19)
Size:
8,804 bases
Orientation:
Minus strand

Genomic View for KCNS1 Gene

Genes around KCNS1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KCNS1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KCNS1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KCNS1 Gene

Proteins for KCNS1 Gene

  • Protein details for KCNS1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96KK3-KCNS1_HUMAN
    Recommended name:
    Potassium voltage-gated channel subfamily S member 1
    Protein Accession:
    Q96KK3
    Secondary Accessions:
    • A2RUL9
    • B7ZM31
    • O43652
    • Q6DJU6

    Protein attributes for KCNS1 Gene

    Size:
    526 amino acids
    Molecular mass:
    58372 Da
    Quaternary structure:
    • Heterotetramer with KCNB1 (PubMed:10484328). Heterotetramer with KCNB2 (By similarity). Does not form homomultimers (PubMed:10484328).

neXtProt entry for KCNS1 Gene

Post-translational modifications for KCNS1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for KCNS1 Gene

No data available for DME Specific Peptides for KCNS1 Gene

Domains & Families for KCNS1 Gene

Gene Families for KCNS1 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Predicted membrane proteins
  • Transporters
  • Voltage-gated ion channels

Suggested Antigen Peptide Sequences for KCNS1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ75995, highly similar to Homo sapiens potassium voltage-gated channel, delayed-rectifier, subfamily S, member 1 (KCNS1), mRNA (A2RUL8_HUMAN)
  • Voltage-gated potassium channel subunit Kv9.1 (KCNS1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96KK3

UniProtKB/Swiss-Prot:

KCNS1_HUMAN :
  • The transmembrane segment S4 functions as voltage-sensor and is characterized by a series of positively charged amino acids at every third position. Channel opening and closing is effected by a conformation change that affects the position and orientation of the voltage-sensor paddle formed by S3 and S4 within the membrane. A transmembrane electric field that is positive inside would push the positively charged S4 segment outwards, thereby opening the pore, while a field that is negative inside would pull the S4 segment inwards and close the pore. Changes in the position and orientation of S4 are then transmitted to the activation gate formed by the inner helix bundle via the S4-S5 linker region.
  • Belongs to the potassium channel family. S (TC 1.A.1.2) subfamily. Kv9.1/KCNS1 sub-subfamily.
Domain:
  • The transmembrane segment S4 functions as voltage-sensor and is characterized by a series of positively charged amino acids at every third position. Channel opening and closing is effected by a conformation change that affects the position and orientation of the voltage-sensor paddle formed by S3 and S4 within the membrane. A transmembrane electric field that is positive inside would push the positively charged S4 segment outwards, thereby opening the pore, while a field that is negative inside would pull the S4 segment inwards and close the pore. Changes in the position and orientation of S4 are then transmitted to the activation gate formed by the inner helix bundle via the S4-S5 linker region.
Family:
  • Belongs to the potassium channel family. S (TC 1.A.1.2) subfamily. Kv9.1/KCNS1 sub-subfamily.
genes like me logo Genes that share domains with KCNS1: view

Function for KCNS1 Gene

Molecular function for KCNS1 Gene

UniProtKB/Swiss-Prot Function:
Potassium channel subunit that does not form functional channels by itself. Can form functional heterotetrameric channels with KCNB1 and KCNB2; modulates the delayed rectifier voltage-gated potassium channel activation and deactivation rates of KCNB1 and KCNB2 (PubMed:10484328).

Phenotypes From GWAS Catalog for KCNS1 Gene

Gene Ontology (GO) - Molecular Function for KCNS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005244 voltage-gated ion channel activity IEA --
GO:0005249 voltage-gated potassium channel activity IBA 21873635
GO:0005251 delayed rectifier potassium channel activity IDA 10484328
GO:0005267 potassium channel activity IEA --
GO:0005515 protein binding IPI 10484328
genes like me logo Genes that share ontologies with KCNS1: view
genes like me logo Genes that share phenotypes with KCNS1: view

Animal Model Products

  • Taconic Biosciences Mouse Models for KCNS1

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KCNS1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for KCNS1 Gene

Localization for KCNS1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KCNS1 Gene

Cell membrane; Multi-pass membrane protein. Note=May not reach the plasma membrane but remain in an intracellular compartment in the absence of KCNB1 or KCNB2 (PubMed:10484328). {ECO:0000269 PubMed:10484328}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KCNS1 gene
Compartment Confidence
plasma membrane 5
peroxisome 0
cytosol 0

Gene Ontology (GO) - Cellular Components for KCNS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0008076 voltage-gated potassium channel complex IDA 10484328
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IBA 21873635
GO:0048471 perinuclear region of cytoplasm ISS,IEA --
genes like me logo Genes that share ontologies with KCNS1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for KCNS1 Gene

Pathways & Interactions for KCNS1 Gene

PathCards logo

SuperPathways for KCNS1 Gene

genes like me logo Genes that share pathways with KCNS1: view

Pathways by source for KCNS1 Gene

1 Qiagen pathway for KCNS1 Gene
  • Dopamine-DARPP32 Feedback onto cAMP Pathway

Gene Ontology (GO) - Biological Process for KCNS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0006813 potassium ion transport TAS 10484328
GO:0034765 regulation of ion transmembrane transport IEA --
GO:0051260 protein homooligomerization IEA --
GO:0055085 transmembrane transport IEA --
genes like me logo Genes that share ontologies with KCNS1: view

No data available for SIGNOR curated interactions for KCNS1 Gene

Drugs & Compounds for KCNS1 Gene

(4) Drugs for KCNS1 Gene - From: Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Chromanol 293B Pharma Antagonist, Pore Blocker IKs blocker. Also blocks ICFTR 0
Flupirtine maleate Pharma KV7 channel activator 0
Kaliotoxin Pharma KV and KCa blocker 0
MaxiPost Pharma Potassium channel modulator; exerts subtype-specific effects 0

(4) Tocris Compounds for KCNS1 Gene

Compound Action Cas Number
Chromanol 293B IKs blocker. Also blocks ICFTR 163163-23-3
Flupirtine maleate KV7 channel activator 75507-68-5
Kaliotoxin KV and KCa blocker 145199-73-1
MaxiPost Potassium channel modulator; exerts subtype-specific effects 187523-35-9
genes like me logo Genes that share compounds with KCNS1: view

Transcripts for KCNS1 Gene

mRNA/cDNA for KCNS1 Gene

(2) REFSEQ mRNAs :
(8) Additional mRNA sequences :
(29) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KCNS1

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for KCNS1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5
SP1:
SP2: -

Relevant External Links for KCNS1 Gene

GeneLoc Exon Structure for
KCNS1
ECgene alternative splicing isoforms for
KCNS1

Expression for KCNS1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KCNS1 Gene

mRNA differential expression in normal tissues according to GTEx for KCNS1 Gene

This gene is overexpressed in Brain - Cortex (x18.5), Brain - Frontal Cortex (BA9) (x16.5), and Brain - Anterior cingulate cortex (BA24) (x9.4).

Protein differential expression in normal tissues from HIPED for KCNS1 Gene

This gene is overexpressed in Blymphocyte (27.6), Heart (21.8), and Adipocyte (18.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for KCNS1 Gene



Protein tissue co-expression partners for KCNS1 Gene

NURSA nuclear receptor signaling pathways regulating expression of KCNS1 Gene:

KCNS1

SOURCE GeneReport for Unigene cluster for KCNS1 Gene:

Hs.117780

mRNA Expression by UniProt/SwissProt for KCNS1 Gene:

Q96KK3-KCNS1_HUMAN
Tissue specificity: Detected in all tissues tested with the exception of skeletal muscle. Highly expressed in adult and fetal brain, fetal kidney and lung, and adult prostate and testis (PubMed:10484328).

Evidence on tissue expression from TISSUES for KCNS1 Gene

  • Nervous system(4.5)
  • Eye(4.1)
genes like me logo Genes that share expression patterns with KCNS1: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for KCNS1 Gene

Orthologs for KCNS1 Gene

This gene was present in the common ancestor of animals.

Orthologs for KCNS1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KCNS1 33 32
  • 99.75 (n)
OneToOne
dog
(Canis familiaris)
Mammalia KCNS1 33 32
  • 90.98 (n)
OneToOne
cow
(Bos Taurus)
Mammalia KCNS1 33 32
  • 90.24 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Kcns1 32
  • 88.46 (n)
mouse
(Mus musculus)
Mammalia Kcns1 17 33 32
  • 88.39 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia KCNS1 33
  • 76 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KCNS1 33
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves KCNS1 33 32
  • 75.04 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KCNS1 33
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kcns1 32
  • 64.9 (n)
zebrafish
(Danio rerio)
Actinopterygii si:dkey-43k4.5 32
  • 63.17 (n)
KCNS1 33
  • 57 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea C32C4.1 34
  • 32 (a)
F44A2.2 34
  • 32 (a)
Species where no ortholog for KCNS1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for KCNS1 Gene

ENSEMBL:
Gene Tree for KCNS1 (if available)
TreeFam:
Gene Tree for KCNS1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for KCNS1: view image

Paralogs for KCNS1 Gene

(24) SIMAP similar genes for KCNS1 Gene using alignment to 2 proteins:

  • KCNS1_HUMAN
  • A2RUL8_HUMAN
genes like me logo Genes that share paralogs with KCNS1: view

Variants for KCNS1 Gene

Sequence variations from dbSNP and Humsavar for KCNS1 Gene

SNP ID Clin Chr 20 pos Variation AA Info Type
rs1000715383 -- 45,094,005(-) C/T 3_prime_UTR_variant
rs1001268351 -- 45,099,194(-) G/A 5_prime_UTR_variant, coding_sequence_variant, missense_variant
rs1001770522 -- 45,099,981(-) C/T genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1002501007 -- 45,092,327(-) T/C 3_prime_UTR_variant
rs1002833051 -- 45,092,093(-) A/G 3_prime_UTR_variant

Structural Variations from Database of Genomic Variants (DGV) for KCNS1 Gene

Variant ID Type Subtype PubMed ID
nsv1056102 CNV loss 25217958

Variation tolerance for KCNS1 Gene

Residual Variation Intolerance Score: 56.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.04; 50.39% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KCNS1 Gene

Human Gene Mutation Database (HGMD)
KCNS1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KCNS1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KCNS1 Gene

Disorders for KCNS1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for KCNS1 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
autoimmune neuropathy
- elite association - COSMIC cancer census association via MalaCards
Search KCNS1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for KCNS1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with KCNS1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for KCNS1 Gene

Publications for KCNS1 Gene

  1. Multiple chronic pain states are associated with a common amino acid-changing allele in KCNS1. (PMID: 20724292) Costigan M … Woolf CJ (Brain : a journal of neurology 2010) 3 43 56
  2. International Union of Pharmacology. LIII. Nomenclature and molecular relationships of voltage-gated potassium channels. (PMID: 16382104) Gutman GA … Wang X (Pharmacological reviews 2005) 2 3 56
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 56
  4. The DNA sequence and comparative analysis of human chromosome 20. (PMID: 11780052) Deloukas P … Rogers J (Nature 2001) 3 4 56
  5. Electrically silent potassium channel subunits from human lens epithelium. (PMID: 10484328) Shepard AR … Rae JL (The American journal of physiology 1999) 3 4 56

Products for KCNS1 Gene

Sources for KCNS1 Gene