Human Gene KCNS1 (ENST00000306117.5) from GENCODE V44
  Description: Homo sapiens potassium voltage-gated channel modifier subfamily S member 1 (KCNS1), transcript variant 1, mRNA. (from RefSeq NM_002251)
RefSeq Summary (NM_002251): 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]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments.
Gencode Transcript: ENST00000306117.5
Gencode Gene: ENSG00000124134.9
Transcript (Including UTRs)
   Position: hg38 chr20:45,092,310-45,101,112 Size: 8,803 Total Exon Count: 5 Strand: -
Coding Region
   Position: hg38 chr20:45,094,870-45,099,236 Size: 4,367 Coding Exon Count: 3 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr20:45,092,310-45,101,112)mRNA (may differ from genome)Protein (526 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: KCNS1_HUMAN
DESCRIPTION: RecName: Full=Potassium voltage-gated channel subfamily S member 1; AltName: Full=Delayed-rectifier K(+) channel alpha subunit 1; AltName: Full=Voltage-gated potassium channel subunit Kv9.1;
FUNCTION: Potassium channel subunit. Modulates channel activity and reduces the ion flow (By similarity).
SUBUNIT: Heteromultimer with KCNB1 and with KCNB2. Does not form homomultimers. Might also bind to other channel proteins (By similarity).
SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein. Note=May not reach the plasma membrane but remain in an intracellular compartment in the absence of KCNB1.
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.
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.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 21.09 RPKM in Brain - Cortex
Total median expression: 54.64 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -139.80397-0.352 Picture PostScript Text
3' UTR -845.802560-0.330 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000210 - BTB/POZ-like
IPR011333 - BTB/POZ_fold
IPR005821 - Ion_trans_dom
IPR003091 - K_chnl
IPR003968 - K_chnl_volt-dep_Kv
IPR003971 - K_chnl_volt-dep_Kv9
IPR003131 - T1-type_BTB

Pfam Domains:
PF00520 - Ion transport protein
PF02214 - BTB/POZ domain

ModBase Predicted Comparative 3D Structure on Q96KK3
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsembl   
Protein SequenceProtein SequenceProtein Sequence   
AlignmentAlignmentAlignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005216 ion channel activity
GO:0005244 voltage-gated ion channel activity
GO:0005249 voltage-gated potassium channel activity
GO:0005251 delayed rectifier potassium channel activity
GO:0005267 potassium channel activity
GO:0005515 protein binding
GO:0015459 potassium channel regulator activity

Biological Process:
GO:0006811 ion transport
GO:0006813 potassium ion transport
GO:0034765 regulation of ion transmembrane transport
GO:0051260 protein homooligomerization
GO:0055085 transmembrane transport
GO:0071805 potassium ion transmembrane transport
GO:1902259 regulation of delayed rectifier potassium channel activity

Cellular Component:
GO:0005886 plasma membrane
GO:0008076 voltage-gated potassium channel complex
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0048471 perinuclear region of cytoplasm


-  Descriptions from all associated GenBank mRNAs
  AF043473 - Homo sapiens delayed-rectifier K+ channel alpha subunit (KCNS1) mRNA, complete cds.
JD038643 - Sequence 19667 from Patent EP1572962.
JD050752 - Sequence 31776 from Patent EP1572962.
JD338442 - Sequence 319466 from Patent EP1572962.
JD210011 - Sequence 191035 from Patent EP1572962.
JD376555 - Sequence 357579 from Patent EP1572962.
JD476978 - Sequence 458002 from Patent EP1572962.
JD046077 - Sequence 27101 from Patent EP1572962.
JD548815 - Sequence 529839 from Patent EP1572962.
JD503723 - Sequence 484747 from Patent EP1572962.
JD254839 - Sequence 235863 from Patent EP1572962.
JD419194 - Sequence 400218 from Patent EP1572962.
JD426283 - Sequence 407307 from Patent EP1572962.
JD192952 - Sequence 173976 from Patent EP1572962.
JD157606 - Sequence 138630 from Patent EP1572962.
JD330160 - Sequence 311184 from Patent EP1572962.
JD493999 - Sequence 475023 from Patent EP1572962.
JD296152 - Sequence 277176 from Patent EP1572962.
JD162558 - Sequence 143582 from Patent EP1572962.
JD368248 - Sequence 349272 from Patent EP1572962.
JD383027 - Sequence 364051 from Patent EP1572962.
JD411225 - Sequence 392249 from Patent EP1572962.
JD497617 - Sequence 478641 from Patent EP1572962.
JD447816 - Sequence 428840 from Patent EP1572962.
JD236781 - Sequence 217805 from Patent EP1572962.
JD258079 - Sequence 239103 from Patent EP1572962.
JD343526 - Sequence 324550 from Patent EP1572962.
JD171731 - Sequence 152755 from Patent EP1572962.
JD154389 - Sequence 135413 from Patent EP1572962.
JD500495 - Sequence 481519 from Patent EP1572962.
JD444314 - Sequence 425338 from Patent EP1572962.
JD108303 - Sequence 89327 from Patent EP1572962.
JD520119 - Sequence 501143 from Patent EP1572962.
BC132957 - Homo sapiens potassium voltage-gated channel, delayed-rectifier, subfamily S, member 1, mRNA (cDNA clone MGC:164588 IMAGE:40146979), complete cds.
BC132959 - Homo sapiens potassium voltage-gated channel, delayed-rectifier, subfamily S, member 1, mRNA (cDNA clone MGC:164590 IMAGE:40146981), complete cds.
BC144234 - Homo sapiens potassium voltage-gated channel, delayed-rectifier, subfamily S, member 1, mRNA (cDNA clone MGC:177771 IMAGE:9052754), complete cds.
AK289735 - Homo sapiens cDNA FLJ75995 complete cds, highly similar to Homo sapiens potassium voltage-gated channel, delayed-rectifier, subfamily S, member 1 (KCNS1), mRNA.
JD442610 - Sequence 423634 from Patent EP1572962.
JD377512 - Sequence 358536 from Patent EP1572962.
JD176351 - Sequence 157375 from Patent EP1572962.
BC075033 - Homo sapiens potassium voltage-gated channel, delayed-rectifier, subfamily S, member 1, mRNA (cDNA clone MGC:104009 IMAGE:30915420), complete cds.
BC075034 - Homo sapiens potassium voltage-gated channel, delayed-rectifier, subfamily S, member 1, mRNA (cDNA clone MGC:104165 IMAGE:30915626), complete cds.
JD243529 - Sequence 224553 from Patent EP1572962.
JD438084 - Sequence 419108 from Patent EP1572962.
JD288837 - Sequence 269861 from Patent EP1572962.
JD088726 - Sequence 69750 from Patent EP1572962.
JD259467 - Sequence 240491 from Patent EP1572962.
JD409933 - Sequence 390957 from Patent EP1572962.
JD444079 - Sequence 425103 from Patent EP1572962.
JD343874 - Sequence 324898 from Patent EP1572962.
JD374236 - Sequence 355260 from Patent EP1572962.
JD100586 - Sequence 81610 from Patent EP1572962.
JD509546 - Sequence 490570 from Patent EP1572962.
JD073884 - Sequence 54908 from Patent EP1572962.
JD073883 - Sequence 54907 from Patent EP1572962.
JD146144 - Sequence 127168 from Patent EP1572962.
JD215316 - Sequence 196340 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q96KK3 (Reactome details) participates in the following event(s):

R-HSA-1296127 Activation of voltage gated Potassium channels
R-HSA-1296072 Voltage gated Potassium channels
R-HSA-1296071 Potassium Channels
R-HSA-112316 Neuronal System

-  Other Names for This Gene
  Alternate Gene Symbols: A2RUL9, B7ZM31, ENST00000306117.1, ENST00000306117.2, ENST00000306117.3, ENST00000306117.4, KCNS1_HUMAN, NM_002251, O43652, Q6DJU6, Q96KK3, uc002xnc.1, uc002xnc.2, uc002xnc.3, uc002xnc.4
UCSC ID: ENST00000306117.5
RefSeq Accession: NM_002251
Protein: Q96KK3 (aka KCNS1_HUMAN or KCS1_HUMAN)
CCDS: CCDS13342.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.