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KCNS1 Gene

protein-coding   GIFtS: 56
GCID: GC20M043720

Potassium Voltage-Gated Channel, Delayed-Rectifier, Subfamily...

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Potassium Voltage-Gated Channel, Delayed-Rectifier, Subfamily S, Member
11 2
     Delayed-Rectifier K+ Channel Alpha Subunit 12
Delayed-Rectifier K(+) Channel Alpha Subunit 12 3     Potassium Voltage-Gated Channel Subfamily S Member 12
Voltage-Gated Potassium Channel Subunit Kv9.12 3     Voltage-Gated Potassium Channel Protein Kv9.12
KV9.12 5     

External Ids:    HGNC: 63001   Entrez Gene: 37872   Ensembl: ENSG000001241347   OMIM: 6029055   UniProtKB: Q96KK33   

Export aliases for KCNS1 gene to outside databases

Previous GC identifers: GC20M043449 GC20M043409 GC20M044359 GC20M044406 GC20M043154 GC20M040462


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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, delayed-rectifier, subfamily S, member 1) is a protein-coding gene. Diseases associated with KCNS1 include fainting, and chronic pain. GO annotations related to this gene include delayed rectifier potassium channel activity and potassium channel regulator activity. An important paralog of this gene is KCNF1.

UniProtKB/Swiss-Prot: KCNS1_HUMAN, Q96KK3
Function: Potassium channel subunit. Modulates channel activity and reduces the ion flow (By similarity)

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 pore-forming alpha-subunits
contain a single pore-forming region and combine to form tetramers. Heteromeric channels can be formed
within subfamilies e.g. KV1.1 with KV1.2 and KCNQ2 with KCNQ3.

Gene Wiki entry for KCNS1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000020.11  NT_011362.11  NC_018931.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the KCNS1 gene promoter:
         AhR   TBP   STAT1   Pax-5   STAT1beta   Arnt   C/EBPalpha   STAT1alpha   E2F   E2F-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKCNS1 promoter sequence
   Search Chromatin IP Primers for KCNS1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KCNS1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 20q12   Ensembl cytogenetic band:  20q13.12   HGNC cytogenetic band: 20q12

KCNS1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KCNS1 gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20M043720:  view genomic region     (about GC identifiers)

Start:
43,720,950 bp from pter      End:
43,729,753 bp from pter
Size:
8,804 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: KCNS1_HUMAN, Q96KK3 (See protein sequence)
Recommended Name: Potassium voltage-gated channel subfamily S member 1  
Size: 526 amino acids; 58372 Da
Subunit: Heteromultimer with KCNB1 and with KCNB2. Does not form homomultimers. Might also bind to other channel
proteins (By similarity)
Secondary accessions: A2RUL9 B7ZM31 O43652 Q6DJU6

Explore the universe of human proteins at neXtProt for KCNS1: NX_Q96KK3

Explore proteomics data for KCNS1 at MOPED


See KCNS1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_002242.2  
ENSEMBL proteins: 
 ENSP00000307694   ENSP00000445595  
Reactome Protein details: Q96KK3

KCNS1 Human Recombinant Protein Products:

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Cloud-Clone Corp. Proteins for KCNS1

KCNS1 Antibody Products:

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Abcam antibodies for KCNS1
Cloud-Clone Corp. Antibodies for KCNS1
Search ThermoFisher Antibodies for KCNS1
LSBio Antibodies in human, mouse, rat for KCNS1

KCNS1 Assay Products:

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GenScript Custom Assay Services for KCNS1
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Cloud-Clone Corp. ELISAs for KCNS1
Cloud-Clone Corp. CLIAs for KCNS1


(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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HGNC Gene Families:
KCN: Potassium channels
Kv: Voltage-gated ion channels / Potassium channels

IUPHAR Guide to PHARMACOLOGY protein family classification: Kv9.1
Voltage-gated potassium channels

Selected InterPro protein domains (see all 9):
 IPR005821 Ion_trans_dom
 IPR000210 BTB/POZ-like
 IPR011333 BTB/POZ_fold
 IPR027359 Channel_four-helix_dom
 IPR003971 K_chnl_volt-dep_Kv9

Graphical View of Domain Structure for InterPro Entry Q96KK3

ProtoNet protein and cluster: Q96KK3

3 Blocks protein domains:
IPB000210 BTB/POZ domain
IPB003091 Potassium channel signature
IPB003971 Kv9 potassium channel alpha subunit signature


UniProtKB/Swiss-Prot: KCNS1_HUMAN, Q96KK3
Domain: The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino
acids at every third position
Similarity: Belongs to the potassium channel family. S (TC 1.A.1.2) subfamily. Kv9.1/KCNS1 sub-subfamily


KCNS1 for domains           About GeneDecksing


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

     UniProtKB/Swiss-Prot Summary: KCNS1_HUMAN, Q96KK3
Function: Potassium channel subunit. Modulates channel activity and reduces the ion flow (By similarity)

     Gene Ontology (GO): 4 molecular function terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005216ion channel activity ----
GO:0005251delayed rectifier potassium channel activity IDA10484328
GO:0005515protein binding IPI10484328
GO:0015459potassium channel regulator activity IDA10484328
     
KCNS1 for ontologies           About GeneDecksing


Phenotypes:
     2 GenomeRNAi human phenotypes for KCNS1:
 Increased cell number in G2M,   Synthetic lethal with c-Myc af 

Animal Models:
   inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for KCNS1
   inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for KCNS1

   genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for KCNS1
   genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for KCNS1

miRNA
Products:
    
Block miRNA regulation of human, mouse, rat KCNS1 using miScript Target Protectors
Selected qRT-PCR Assays for microRNAs that regulate KCNS1 (see all 9):
hsa-miR-1266 hsa-miR-3130-3p hsa-miR-624 hsa-miR-1205 hsa-miR-3907 hsa-miR-4298 hsa-miR-1302 hsa-miR-149
SwitchGear 3'UTR luciferase reporter plasmidKCNS1 3' UTR sequence
Inhib. RNA
Products:
    
OriGene RNAi products in human, mouse, rat for KCNS1
Predesigned siRNA for gene silencing in human, mouse, rat KCNS1

Gene Editing
Products:
DNA2.0 Custom Protein Engineering Service for KCNS1

Clone
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OriGene clones in human, mouse for KCNS1 (see all 7)
OriGene ORF clones in mouse, rat for KCNS1
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
GenScript: all cDNA clones in your preferred vector: KCNS1 (NM_002251)
Browse Sino Biological Human cDNA Clones
DNA2.0 Custom Codon Optimized Gene Synthesis Service for KCNS1
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KCNS1

Cell Line
Products:
     
GenScript Custom overexpressing Cell Line Services for KCNS1
Browse ESI BIO Cell Lines and PureStem Progenitors for KCNS1 
In Situ Assay
Products:
   

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KCNS1


(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot
KCNS1_HUMAN, Q96KK3: Cell membrane; Multi-pass membrane protein. Note=May not reach the plasma membrane but
remain in an intracellular compartment in the absence of KCNB1
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
plasma membrane5
cytosol1
peroxisome1

Gene Ontology (GO): 3 cellular component terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005886plasma membrane TAS--
GO:0008076voltage-gated potassium channel complex IDA10484328
GO:0016020membrane ----

KCNS1 for ontologies           About GeneDecksing


(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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SuperPaths for KCNS1 About    
See pathways by source

SuperPathContained pathways About
1Potassium Channels
Potassium Channels0.43
Voltage gated Potassium channels0.43
2Transmission across Chemical Synapses
Neuronal System0.68
3Dopamine-DARPP32 Feedback onto cAMP Pathway
Dopamine-DARPP32 Feedback onto cAMP Pathway

Pathways by source                                                                                                                                                                 See SuperPaths
Show all pathways

1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for KCNS1
    Dopamine-DARPP32 Feedback onto cAMP Pathway

1 Reactome Pathway for KCNS1
    Voltage gated Potassium channels



KCNS1 for pathways           About GeneDecksing

    Pathway & Disease-focused RT2 Profiler PCR Array including KCNS1: 
          Neuronal Ion Channels in human mouse rat

Interactions:

    GeneGlobe Interaction Network for KCNS1

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

Selected Interacting proteins for KCNS1 (ENSP000003076944) via UniProtKB, MINT, STRING, and/or I2D (see all 41)
InteractantInteraction Details
GeneCardExternal ID(s)
KCNA10ENSP000003587864STRING: ENSP00000358786
KCNA2ENSP000003145204STRING: ENSP00000314520
KCNA3ENSP000003587844STRING: ENSP00000358784
KCNA4ENSP000003285114STRING: ENSP00000328511
KCNA5ENSP000002523214STRING: ENSP00000252321
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Gene Ontology (GO): 5 biological process terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0006811ion transport ----
GO:0006813potassium ion transport TAS10484328
GO:0007268synaptic transmission TAS--
GO:0051260protein homooligomerization IEA--
GO:0055085transmembrane transport ----

KCNS1 for ontologies           About GeneDecksing



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Compounds for KCNS1 available from Tocris Bioscience    About this table
CompoundAction CAS #
ICA 110381KV7.2/7.3 activator; displays anticonvulsant properties[325457-99-6]
XE 991 dihydrochloride Potent, selective KV7 (KCNQ) channel blocker; blocks M-current [122955-42-4]
JNJ 303Potent and selective IKs blocker[878489-28-2]
E-4031 dihydrochlorideKV11.1 (hERG) channel blocker; inhibits rapid delayed rectifier K+ current (IKr)[113559-13-0]
ShK-Dap22Extremely potent and selective KV1.3 blocker; suppresses T cell activation in vitro[220384-25-8]



(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for KCNS1 gene: 
NM_002251.3  

Unigene Cluster for KCNS1:

Potassium voltage-gated channel, delayed-rectifier, subfamily S, member 1
Hs.117780  [show with all ESTs]
Unigene Representative Sequence: AF043473
2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000306117(uc002xnc.3 uc002xnd.3) ENST00000537075
miRNA
Products:
     
Block miRNA regulation of human, mouse, rat KCNS1 using miScript Target Protectors
Selected qRT-PCR Assays for microRNAs that regulate KCNS1 (see all 9):
hsa-miR-1266 hsa-miR-3130-3p hsa-miR-624 hsa-miR-1205 hsa-miR-3907 hsa-miR-4298 hsa-miR-1302 hsa-miR-149
SwitchGear 3'UTR luciferase reporter plasmidKCNS1 3' UTR sequence
Inhib. RNA
Products:
     
OriGene RNAi products in human, mouse, rat for KCNS1
Predesigned siRNA for gene silencing in human, mouse, rat KCNS1
Clone
Products:
     
OriGene clones in human, mouse for KCNS1 (see all 7)
OriGene ORF clones in mouse, rat for KCNS1
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
GenScript: all cDNA clones in your preferred vector: KCNS1 (NM_002251)
DNA2.0 Custom Codon Optimized Gene Synthesis Service for KCNS1
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KCNS1
Primer
Products:
    
OriGene qSTAR qPCR primer pairs in human, mouse for KCNS1
Pre-validated RT2 qPCR Primer Assay in human, mouse, rat KCNS1
  QuantiTect SYBR Green Assays in human, mouse, rat KCNS1
  QuantiFast Probe-based Assays in human, mouse, rat KCNS1

Additional mRNA sequence: 

AF043473.2 AK289735.1 BC075033.2 BC075034.2 BC132957.1 BC132959.1 BC144234.1 

3 DOTS entries:

DT.212165  DT.120821695  DT.120821696 

Selected AceView cDNA sequences (see all 29):

H43697 BC075034 BC075033 NM_002251 H51391 BF914751 AF043473 H49525 
BF914749 T08732 AA788916 H20175 BF037198 H18164 H18119 H49759 
H43171 CD614379 BE819000 CD614377 H85454 H20365 R88616 R87913 

GeneLoc Exon Structure

2 Alternative Splicing Database (ASD) splice patterns (SP) for KCNS1    About this scheme

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


ECgene alternative splicing isoforms for KCNS1

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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KCNS1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: TATCAGTGAA
KCNS1 Expression
About this image


KCNS1 expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database
 selected tissues (see all 6) fully expand
 
 Bone (Muscoskeletal System)    fully expand to see all 6 entries
         TGFbeta3+BMP7-induced chondrocytes
 
 Cartilage (Muscoskeletal System)    fully expand to see all 6 entries
         TGFbeta3+BMP7-induced chondrocytes
 
 Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
         Myoblasts Mandibular Arch Muscles
 
 Neural Crest (Gastrulation Derivatives)
         PureStem 7SMOO32, NCr-fac & Meso Progenitor
 
 Adipose (Muscoskeletal System)
         HyStem+BMP4-induced SM30 cells
KCNS1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

KCNS1 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.117780

UniProtKB/Swiss-Prot: KCNS1_HUMAN, Q96KK3
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

    Pathway & Disease-focused RT2 Profiler PCR Array including KCNS1: 
          Neuronal Ion Channels in human mouse rat

Primer
Products:
OriGene qSTAR qPCR primer pairs in human, mouse for KCNS1
Pre-validated RT2 qPCR Primer Assay in human, mouse, rat KCNS1
QuantiTect SYBR Green Assays in human, mouse, rat KCNS1
QuantiFast Probe-based Assays in human, mouse, rat KCNS1
In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KCNS1

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of chordates.

Orthologs for KCNS1 gene from Selected species (see all 12)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Kcns11 , 5 K+ voltage-gated channel, subfamily S, 11, 5 88.39(n)1
90.28(a)1
  2 (84.60 cM)5
165381  NM_008435.21  NP_032461.21 
 1641636195 
chicken
(Gallus gallus)
Aves KCNS11 potassium voltage-gated channel, delayed-rectifier, more 75.04(n)
72.25(a)
  770173  XM_004947028.1  XP_004947085.1 
lizard
(Anolis carolinensis)
Reptilia KCNS16
potassium voltage-gated channel, delayed-rectifier...
69(a)
1 ↔ 1
4(143321855-143399346)
tropical clawed frog
(Xenopus tropicalis)
Amphibia kcns11 potassium voltage-gated channel, delayed-rectifier, more 64.9(n)
67.59(a)
  100492665  XM_002938013.2  XP_002938059.2 
zebrafish
(Danio rerio)
Actinopterygii si:dkey-43k4.51 si:dkey-43k4.5 63.17(n)
65.24(a)
  100148290  XM_001922158.2  XP_001922193.1 


ENSEMBL Gene Tree for KCNS1 (if available)
TreeFam Gene Tree for KCNS1 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for KCNS1 gene
KCNF12  KCNG32  KCNB22  KCNV12  KCNG22  KCNS22  KCNS32  KCNB12  
KCNV22  KCNG42  KCNG12  
Selected SIMAP similar genes for KCNS1 using alignment to 2 protein entries:     KCNS1_HUMAN (see all proteins) (see all similar genes):
KCNS2    KCNS3    KCNB1    KCNB2    KCNG1    KCNV2
KCNA7    KCNG4    KCNG2    KCNG3    KCNV1    KCNA10
KCNF1    KCNA1    KCNA2    KCNA3    KCNC1    KCNC2

KCNS1 for paralogs           About GeneDecksing



(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for KCNS1 (see all 229)    About this table    
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 20 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1122439181,2
C,F--43720474(+) ACCACC/AAACTA 1 -- ds50011Minor allele frequency- A:0.50CSA 2
rs1908755481,2
--43720558(+) TTTCTA/GGCCTC 1 -- ds50010--------
rs1146330021,2
F--43720646(+) CTAATA/GTATCT 1 -- ds50011Minor allele frequency- G:0.03WA 118
rs60736391,2
C,F--43720812(+) CTGGCA/GCAACC 1 -- ds500110Minor allele frequency- G:0.16NA WA EA 488
rs1833548081,2
--43720861(+) TGTGGA/GTTCCA 1 -- ds50010--------
rs1491672201,2
--43720897(+) CTCCAA/GTCACT 1 -- ds50010--------
rs1433233931,2
--43720907(+) TCAGAC/TAGCAT 1 -- ds50010--------
rs1180921791,2
C,F--43720948(+) CACGTC/TCTGGG 1 -- ds50011Minor allele frequency- T:0.02NA 120
rs1869444341,2
--43721005(+) GGGAGC/TGAGTT 1 -- ut310--------
rs1913649891,2
--43721263(+) GTGTGA/GTGAAT 1 -- ut310--------

HapMap Linkage Disequilibrium report for KCNS1 (43720950 - 43729753 bp)

Structural Variations
      Database of Genomic Variants (DGV) variations for KCNS1: --
Human Gene Mutation Database (HGMD): KCNS1
Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing KCNS1
DNA2.0 Custom Variant and Variant Library Synthesis for KCNS1

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 602905    OMIM disorders: --

6 diseases for KCNS1:    
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fainting    chronic pain    bipolar disorder    neuropathy
neuronitis    prostatitis


KCNS1 for disorders           About GeneDecksing

Genetic Association Database (GAD): KCNS1
Human Genome Epidemiology (HuGE) Navigator: KCNS1 (1 document)

Export disorders for KCNS1 gene to outside databases

(in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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PubMed articles for KCNS1 gene, integrated from 10 sources (see all 11):
(articles sorted by number of sources associating them with KCNS1)
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  1. Multiple chronic pain states are associated with a common amino acid-changing allele in KCNS1. (PubMed id 20724292)1, 4 Costigan M....Woolf C.J. (Brain 2010)
  2. International Union of Pharmacology. LIII. Nomenclature and molecular relationships of voltage-gated potassium channels. (PubMed id 16382104)1, 3 Gutman G.A....Wang X. (Pharmacol. Rev. 2005)
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
  4. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (Nature 2001)
  5. Electrically silent potassium channel subunits from human lens epithelium. (PubMed id 10484328)1, 2 Shepard A.R. and Rae J.L. (Am. J. Physiol. 1999)
  6. New modulatory alpha subunits for mammalian Shab K+ channels. (PubMed id 9305895)1, 3 Salinas M....Lazdunski M. (J. Biol. Chem. 1997)
  7. KCNS1, but not GCH1, is associated with pain intensity in a black southern African population with HIV-associated sensory neuropathy: a genetic association study. (PubMed id 23314412)1 Hendry L....Kamerman P. (J. Acquir. Immune Defic. Syndr. 2013)
  8. A genome-wide association study of seasonal pattern mania identifies NF1A as a possible susceptibility gene for bipolar disorder. (PubMed id 22925353)1 Lee H.J....Kelsoe J.R. (J Affect Disord 2013)
  9. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
  10. A high-resolution 6.0-megabase transcript map of the type 2 diabetes susceptibility region on human chromosome 20. (PubMed id 11549316)1 Fossey S.C....Bowden D.W. (Genomics 2001)

(in PubMed, OMIM, and NCBI Bookshelf)
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 ANDOR
Aliases
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OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 3787 HGNC: 6300 AceView: KCNS1 Ensembl:ENSG00000124134 euGenes: HUgn3787
ECgene: KCNS1 H-InvDB: KCNS1

(According to HUGE)
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  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for KCNS1 Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for KCNS1 gene:
Search GeneIP for patents involving KCNS1

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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