KCNS1
gene geneOn this page
Also known as Kv9.1
Summary
KCNS1 (potassium voltage-gated channel modifier subfamily S member 1, HGNC:6300) is a protein-coding gene on chromosome 20q13.12, encoding Delayed-rectifier potassium channel regulatory subunit KCNS1 (Q96KK3). Potassium channel regulatory subunit that modulate the delayed rectifier voltage-gated potassium channel activity of KCNB1 and KCNB2 by altering their kinetics, expression levels, and shifting the half-inactivation potential to more polarized values.
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.
Source: NCBI Gene 3787 — RefSeq curated summary.
At a glance
- GWAS associations: 3
- Clinical variants (ClinVar): 86 total
- Druggable target: yes
- MANE Select transcript:
NM_001322799
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:6300 |
| Approved symbol | KCNS1 |
| Name | potassium voltage-gated channel modifier subfamily S member 1 |
| Location | 20q13.12 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | Kv9.1 |
| Ensembl gene | ENSG00000124134 |
| Ensembl biotype | protein_coding |
| OMIM | 602905 |
| Entrez | 3787 |
Gene structure
Transcript identifiers
Ensembl transcripts: 2 — 2 protein_coding
ENST00000306117, ENST00000537075
RefSeq mRNA: 2 — MANE Select: NM_001322799
NM_001322799, NM_002251
CCDS: CCDS13342
Canonical transcript exons
ENST00000537075 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00002227656 | 45100921 | 45101127 |
| ENSE00002268458 | 45091214 | 45095340 |
| ENSE00003893521 | 45099161 | 45099239 |
| ENSE00003894528 | 45097662 | 45098695 |
Expression profiles
Bgee: expression breadth ubiquitous, 125 present calls, max score 97.32.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.5024 / max 53.0562, expressed in 102 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 187379 | 0.3871 | 84 |
| 187378 | 0.1018 | 28 |
| 187380 | 0.0135 | 4 |
Top tissues by expression
248 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| type B pancreatic cell | CL:0000169 | 97.32 | gold quality |
| olfactory bulb | UBERON:0002264 | 96.36 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 96.33 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 93.63 | gold quality |
| primary visual cortex | UBERON:0002436 | 92.03 | gold quality |
| triceps brachii | UBERON:0001509 | 91.90 | gold quality |
| tongue squamous epithelium | UBERON:0006919 | 91.67 | gold quality |
| cardia of stomach | UBERON:0001162 | 91.51 | silver quality |
| gluteal muscle | UBERON:0002000 | 91.07 | gold quality |
| occipital lobe | UBERON:0002021 | 90.93 | gold quality |
| vena cava | UBERON:0004087 | 89.98 | silver quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 89.74 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 89.44 | gold quality |
| postcentral gyrus | UBERON:0002581 | 89.23 | gold quality |
| parietal lobe | UBERON:0001872 | 88.92 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 88.40 | gold quality |
| body of tongue | UBERON:0011876 | 87.17 | gold quality |
| tongue | UBERON:0001723 | 86.96 | gold quality |
| orbitofrontal cortex | UBERON:0004167 | 86.75 | gold quality |
| dorsal root ganglion | UBERON:0000044 | 86.51 | silver quality |
| pancreatic ductal cell | CL:0002079 | 86.40 | silver quality |
| ventral tegmental area | UBERON:0002691 | 86.40 | silver quality |
| superior surface of tongue | UBERON:0007371 | 86.34 | gold quality |
| diaphragm | UBERON:0001103 | 86.26 | gold quality |
| right frontal lobe | UBERON:0002810 | 86.04 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 85.76 | gold quality |
| frontal cortex | UBERON:0001870 | 85.75 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 85.61 | gold quality |
| superior vestibular nucleus | UBERON:0007227 | 85.59 | silver quality |
| trigeminal ganglion | UBERON:0001675 | 85.40 | silver quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 3.71 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
129 targeting KCNS1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-6873-3P | 100.00 | 71.42 | 2626 |
| HSA-MIR-4747-5P | 100.00 | 67.90 | 2681 |
| HSA-MIR-5196-5P | 100.00 | 67.98 | 2761 |
| HSA-MIR-6867-5P | 100.00 | 82.21 | 3464 |
| HSA-MIR-7110-3P | 100.00 | 73.18 | 2486 |
| HSA-MIR-4533 | 100.00 | 69.48 | 2758 |
| HSA-MIR-6748-5P | 100.00 | 65.81 | 1057 |
| HSA-MIR-432-3P | 100.00 | 67.86 | 705 |
| HSA-MIR-4534 | 99.99 | 66.58 | 1907 |
| HSA-MIR-8068 | 99.98 | 73.85 | 2376 |
| HSA-MIR-4487 | 99.96 | 64.58 | 1252 |
| HSA-MIR-8082 | 99.95 | 67.27 | 1170 |
| HSA-MIR-9983-3P | 99.94 | 71.48 | 3631 |
| HSA-MIR-1236-3P | 99.94 | 68.04 | 1695 |
| HSA-MIR-9718 | 99.94 | 68.91 | 918 |
| HSA-MIR-450B-5P | 99.92 | 71.48 | 3175 |
| HSA-MIR-329-3P | 99.91 | 66.56 | 1234 |
| HSA-MIR-362-3P | 99.91 | 66.38 | 1267 |
| HSA-MIR-6783-3P | 99.89 | 67.92 | 2059 |
| HSA-MIR-1343-3P | 99.89 | 66.78 | 1815 |
| HSA-MIR-129-5P | 99.88 | 70.26 | 3273 |
| HSA-MIR-4492 | 99.87 | 68.25 | 3611 |
| HSA-MIR-4728-5P | 99.85 | 69.39 | 4718 |
| HSA-MIR-6785-5P | 99.82 | 68.68 | 4428 |
| HSA-MIR-4420 | 99.82 | 70.08 | 1624 |
| HSA-MIR-944 | 99.82 | 70.85 | 3042 |
| HSA-MIR-181B-2-3P | 99.81 | 70.06 | 1646 |
| HSA-MIR-181B-3P | 99.81 | 70.06 | 1646 |
| HSA-MIR-6817-3P | 99.79 | 68.35 | 2126 |
| HSA-MIR-3934-3P | 99.76 | 65.51 | 1351 |
Literature-anchored findings (GeneRIF, showing 4)
- Thia study presented the KCNS1 allele rs734784 as one of the first prognostic indicators of chronic pain risk. (PMID:20724292)
- Several haplotypes of population-specific tagSNPs correlated with pain intensity in black southern African population with HIV-associated sensory neuropathy. (PMID:23314412)
- There was moderate statistical evidence for interactions shoulder pain phenotypes between KCNS1 and depressive symptoms, pain catastrophizing, or kinesiophobia (PMID:24373571)
- 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. (PMID:24392765)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | si:dkey-43k4.5 | ENSDARG00000026084 |
| mus_musculus | Kcns1 | ENSMUSG00000040164 |
| rattus_norvegicus | Kcns1 | ENSRNOG00000013681 |
Paralogs (31): KCNG1 (ENSG00000026559), KCNQ1 (ENSG00000053918), KCNQ2 (ENSG00000075043), KCND1 (ENSG00000102057), KCNA7 (ENSG00000104848), KCNA1 (ENSG00000111262), KCNC4 (ENSG00000116396), KCNQ4 (ENSG00000117013), KCNC1 (ENSG00000129159), KCNA5 (ENSG00000130037), KCNC3 (ENSG00000131398), KCNA10 (ENSG00000143105), KCNA6 (ENSG00000151079), KCNS2 (ENSG00000156486), KCNB1 (ENSG00000158445), KCNF1 (ENSG00000162975), KCNV1 (ENSG00000164794), KCNC2 (ENSG00000166006), KCNV2 (ENSG00000168263), KCNG4 (ENSG00000168418), KCNS3 (ENSG00000170745), KCNG3 (ENSG00000171126), KCND3 (ENSG00000171385), KCNA3 (ENSG00000177272), KCNA2 (ENSG00000177301), KCNG2 (ENSG00000178342), KCNA4 (ENSG00000182255), KCNB2 (ENSG00000182674), KCNQ3 (ENSG00000184156), KCND2 (ENSG00000184408), KCNQ5 (ENSG00000185760)
Protein
Protein identifiers
Delayed-rectifier potassium channel regulatory subunit KCNS1 — Q96KK3 (reviewed: Q96KK3)
Alternative names: Delayed-rectifier K(+) channel alpha subunit 1, Delayed-rectifier potassium channel subunit Kv9.1, Potassium voltage-gated channel modifier subfamily S member 1
All UniProt accessions (2): A2RUL8, Q96KK3
UniProt curated annotations — full annotation on UniProt →
Function. Potassium channel regulatory subunit that modulate the delayed rectifier voltage-gated potassium channel activity of KCNB1 and KCNB2 by altering their kinetics, expression levels, and shifting the half-inactivation potential to more polarized values. While it does not form functional channels on its own, it can form functional heterotetrameric channels with KCNB1 and KCNB2. Each regulatory subunit has unique regulatory properties that can lead to extensive inhibition, significant changes in kinetics, and/or substantial shifts in the voltage dependencies of the inactivation process.
Subunit / interactions. Heterotetramer with KCNB1. Heterotetramer with KCNB2. Does not form homomultimers.
Subcellular location. Cell membrane.
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 organisation. The transmembrane segment S4 functions as a 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.
Similarity. Belongs to the potassium channel family. S (TC 1.A.1.2) subfamily. Kv9.1/KCNS1 sub-subfamily.
RefSeq proteins (2): NP_001309728, NP_002242 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000210 | BTB/POZ_dom | Domain |
| IPR003131 | T1-type_BTB | Domain |
| IPR003968 | K_chnl_volt-dep_Kv | Family |
| IPR003971 | K_chnl_volt-dep_Kv5/Kv9 | Family |
| IPR005821 | Ion_trans_dom | Domain |
| IPR011333 | SKP1/BTB/POZ_sf | Homologous_superfamily |
| IPR027359 | Volt_channel_dom_sf | Homologous_superfamily |
| IPR028325 | VG_K_chnl | Family |
Pfam: PF00520, PF02214
UniProt features (22 total): topological domain 8, transmembrane region 6, intramembrane region 2, sequence variant 2, chain 1, region of interest 1, short sequence motif 1, compositionally biased region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q96KK3-F1 | 78.83 | 0.42 |
Function
Pathways and Gene Ontology
Reactome pathways
3 pathways
| ID | Pathway |
|---|---|
| R-HSA-1296072 | Voltage gated Potassium channels |
| R-HSA-112316 | Neuronal System |
| R-HSA-1296071 | Potassium Channels |
MSigDB gene sets: 106 (showing top):
GSE37336_LY6C_POS_VS_NEG_NAIVE_CD4_TCELL_DN, GOBP_POTASSIUM_ION_TRANSPORT, YAGI_AML_WITH_INV_16_TRANSLOCATION, REACTOME_VOLTAGE_GATED_POTASSIUM_CHANNELS, REACTOME_POTASSIUM_CHANNELS, LHX3_01, GOBP_MONOATOMIC_CATION_TRANSPORT, NKX62_Q2, MODULE_99, SLEBOS_HEAD_AND_NECK_CANCER_WITH_HPV_UP, GOBP_PROTEIN_HOMOOLIGOMERIZATION, CDPCR3HD_01, GOBP_REGULATION_OF_TRANSPORT, GOBP_REGULATION_OF_MONOATOMIC_ION_TRANSPORT, GOBP_TRANSMEMBRANE_TRANSPORT
GO Biological Process (8): action potential (GO:0001508), potassium ion transport (GO:0006813), protein homooligomerization (GO:0051260), potassium ion transmembrane transport (GO:0071805), regulation of potassium ion transmembrane transport (GO:1901379), monoatomic ion transport (GO:0006811), monoatomic ion transmembrane transport (GO:0034220), transmembrane transport (GO:0055085)
GO Molecular Function (5): voltage-gated potassium channel activity (GO:0005249), potassium channel regulator activity (GO:0015459), monoatomic ion channel activity (GO:0005216), potassium channel activity (GO:0005267), protein binding (GO:0005515)
GO Cellular Component (6): nucleoplasm (GO:0005654), plasma membrane (GO:0005886), voltage-gated potassium channel complex (GO:0008076), membrane (GO:0016020), perinuclear region of cytoplasm (GO:0048471), monoatomic ion channel complex (GO:0034702)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Potassium Channels | 1 |
| Neuronal System | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| transport | 2 |
| potassium channel activity | 2 |
| regulation of membrane potential | 1 |
| metal ion transport | 1 |
| protein complex oligomerization | 1 |
| potassium ion transport | 1 |
| monoatomic cation transmembrane transport | 1 |
| regulation of potassium ion transport | 1 |
| potassium ion transmembrane transport | 1 |
| regulation of monoatomic cation transmembrane transport | 1 |
| monoatomic ion transport | 1 |
| transmembrane transport | 1 |
| cellular process | 1 |
| voltage-gated monoatomic cation channel activity | 1 |
| ion channel regulator activity | 1 |
| monoatomic ion transmembrane transporter activity | 1 |
| channel activity | 1 |
| monoatomic cation channel activity | 1 |
| potassium ion transmembrane transporter activity | 1 |
| binding | 1 |
| nuclear lumen | 1 |
| membrane | 1 |
| cell periphery | 1 |
| potassium channel complex | 1 |
| plasma membrane protein complex | 1 |
| cytoplasm | 1 |
| transmembrane transporter complex | 1 |
Protein interactions and networks
STRING
1910 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| KCNS1 | KCNK15 | Q9H427 | 862 |
| KCNS1 | KCNK9 | Q9NPC2 | 656 |
| KCNS1 | KCNK3 | O14649 | 636 |
| KCNS1 | KCNB2 | Q92953 | 620 |
| KCNS1 | KCNB1 | Q14721 | 615 |
| KCNS1 | KCNJ13 | O60928 | 593 |
| KCNS1 | SCN9A | Q15858 | 527 |
| KCNS1 | SFT2D2 | O95562 | 506 |
| KCNS1 | PRIMA1 | Q86XR5 | 492 |
| KCNS1 | CADM2 | Q8N3J6 | 490 |
| KCNS1 | CACNG2 | Q9Y698 | 474 |
| KCNS1 | SCN3B | Q9NY72 | 460 |
| KCNS1 | C1QL3 | Q5VWW1 | 459 |
| KCNS1 | WFDC10A | Q9H1F0 | 450 |
| KCNS1 | MFAP3L | O75121 | 447 |
IntAct
0 interactions, top by confidence:
BioGRID (2): KCNS1 (Negative Genetic), KCNS1 (Affinity Capture-MS)
ESM2 similar proteins: A4K2M4, A4K2N8, A4K2P6, A4K2Q6, A4K2R3, A4K2S2, A4K2T1, A4K2V2, A4K2W6, A4K2X4, A4K2Y2, D4ADX7, O35173, O35174, O88758, P15384, P15388, P16390, P17658, P17659, P19024, P22001, P22460, P22462, P25122, P48547, P50638, P59053, P59994, P79197, Q03719, Q03721, Q14B80, Q17ST2, Q61762, Q61923, Q63734, Q7TSH7, Q8CFS6, Q8R1C0
Diamond homologs: A2BDX4, A4K2M4, A4K2N8, A4K2P6, A4K2Q6, A4K2R3, A4K2S2, A4K2T1, A4K2V2, A4K2W6, A4K2X4, A4K2Y2, A6H8H5, D4AD53, D4ADX7, G5EFC3, O18868, O35173, O35174, O73606, O88758, O88759, P10499, P15384, P15385, P15387, P15388, P16388, P16390, P17970, P17971, P17972, P22001, P22459, P22739, P25122, P48547, P59053, P59994, P59995
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| KCNS1 | “down-regulates quantity” | potassium(1+) | relocalization |
Disease & clinical
Clinical variants and AI predictions
ClinVar
86 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 71 |
| Likely benign | 7 |
| Benign | 4 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
509 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 20:45095336:CTGTG:C | acceptor_gain | 1.0000 |
| 20:45095337:TGTG:T | acceptor_gain | 1.0000 |
| 20:45095338:GTGC:G | acceptor_loss | 1.0000 |
| 20:45095340:GC:G | acceptor_loss | 1.0000 |
| 20:45095341:C:CC | acceptor_gain | 1.0000 |
| 20:45095342:T:C | acceptor_loss | 1.0000 |
| 20:45100916:CTTAC:C | donor_loss | 1.0000 |
| 20:45100917:TTA:T | donor_loss | 1.0000 |
| 20:45100919:A:AC | donor_gain | 1.0000 |
| 20:45100919:ACC:A | donor_loss | 1.0000 |
| 20:45100920:C:CA | donor_loss | 1.0000 |
| 20:45100920:C:CC | donor_gain | 1.0000 |
| 20:45095338:GTG:G | acceptor_gain | 0.9900 |
| 20:45095339:TG:T | acceptor_gain | 0.9900 |
| 20:45097658:GTA:G | donor_loss | 0.9900 |
| 20:45097659:TACCT:T | donor_loss | 0.9900 |
| 20:45097660:A:C | donor_loss | 0.9900 |
| 20:45097661:C:CT | donor_loss | 0.9900 |
| 20:45098692:CTCC:C | acceptor_gain | 0.9900 |
| 20:45098694:CC:C | acceptor_gain | 0.9900 |
| 20:45098695:CC:C | acceptor_gain | 0.9900 |
| 20:45098695:CCTGC:C | acceptor_loss | 0.9900 |
| 20:45098696:CTGC:C | acceptor_loss | 0.9900 |
| 20:45100919:AC:A | donor_gain | 0.9900 |
| 20:45100920:CC:C | donor_gain | 0.9900 |
| 20:45100920:CCT:C | donor_gain | 0.9900 |
| 20:45100920:CCTGT:C | donor_gain | 0.9900 |
| 20:45098691:CCTCC:C | acceptor_gain | 0.9800 |
| 20:45098692:CTCCC:C | acceptor_gain | 0.9800 |
| 20:45098693:TCCCT:T | acceptor_gain | 0.9800 |
AlphaMissense
3381 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 20:45095071:G:C | F460L | 1.000 |
| 20:45095071:G:T | F460L | 1.000 |
| 20:45095073:A:G | F460L | 1.000 |
| 20:45095197:G:C | S418R | 1.000 |
| 20:45095197:G:T | S418R | 1.000 |
| 20:45095199:T:G | S418R | 1.000 |
| 20:45095209:C:A | W414C | 0.999 |
| 20:45095209:C:G | W414C | 0.999 |
| 20:45095211:A:G | W414R | 0.999 |
| 20:45095211:A:T | W414R | 0.999 |
| 20:45097708:A:G | L355S | 0.999 |
| 20:45097920:G:C | S284R | 0.999 |
| 20:45097920:G:T | S284R | 0.999 |
| 20:45097922:T:G | S284R | 0.999 |
| 20:45097923:G:C | F283L | 0.999 |
| 20:45097923:G:T | F283L | 0.999 |
| 20:45097925:A:G | F283L | 0.999 |
| 20:45098461:A:G | F104S | 0.999 |
| 20:45095072:A:C | F460C | 0.998 |
| 20:45095072:A:G | F460S | 0.998 |
| 20:45095080:G:C | F457L | 0.998 |
| 20:45095080:G:T | F457L | 0.998 |
| 20:45095082:A:G | F457L | 0.998 |
| 20:45095096:G:C | P452R | 0.998 |
| 20:45095096:G:T | P452H | 0.998 |
| 20:45095117:C:T | G445D | 0.998 |
| 20:45095118:C:G | G445R | 0.998 |
| 20:45095165:G:T | P429Q | 0.998 |
| 20:45095177:C:A | G425V | 0.998 |
| 20:45095177:C:T | G425E | 0.998 |
dbSNP variants (sampled 300 via entrez): RS1000715383 (20:45094005 C>T), RS1001268351 (20:45099194 G>A), RS1001770522 (20:45099981 C>T), RS1002501007 (20:45092327 T>C), RS1002833051 (20:45092093 A>G), RS1002984834 (20:45098288 T>G), RS1003160194 (20:45095490 T>A,C), RS1003430089 (20:45093404 T>C), RS1003605860 (20:45095944 G>A), RS1004287539 (20:45101347 A>G), RS1004393829 (20:45092619 G>A,C,T), RS1004819900 (20:45090777 A>C,G), RS1005064260 (20:45097221 C>T), RS1005117746 (20:45096646 T>C), RS1005276013 (20:45091370 A>G)
Disease associations
OMIM: gene MIM:602905 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
3 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004599_210 | Mean platelet volume | 2.000000e-12 |
| GCST008103_18 | Bipolar disorder | 1.000000e-08 |
| GCST008103_27 | Bipolar disorder | 3.000000e-08 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL2362996 (PROTEIN FAMILY)
PharmGKB: 1 entry (VIP=true, CPIC=false)
PharmGKB variants
1 variants.
| Variant | Genes | Level | Score | #Clin annots | Drugs |
|---|---|---|---|---|---|
| rs734784 | KCNS1 | 0.00 | 0 |
GtoPdb / IUPHAR curated pharmacology
(IUPHAR/BPS Guide to Pharmacology — expert-curated)
Target class: vgic — Voltage-gated potassium channels (Kv)
ChEMBL bioactivities
2 potent at pChembl≥5 of 2 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 9.82 | Ki | 0.15 | nM | CHEMBL5722941 |
| 9.74 | IC50 | 0.18 | nM | CHEMBL5722941 |
PubChem BioAssay actives
2 with measured affinity, of 34 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.
| Compound | Assay | Type | Value | Unit |
|---|---|---|---|---|
| 3-[(1R,2aS,4S,5aS,8aS,10S,11aR,14aS,16S,17aS,19S,20aS,22S,23aS,25S,26aS,28S,29aS,31R,32aS,35aS,36R,38aS,39S,41aS,42S,44aS,45S,48R,50aS,51S,53aS,54S,56aS,57S,59aS,60S,63S,66S,69S,72S,75S,78S,87R,93S,96S,99S)-17a,20a,23a,53a,63-pentakis(4-aminobutyl)-31-[[(2S)-2-[[(2S)-6-amino-2-[[(2S)-5-carbamimidamido-2-[[(2S)-5-carbamimidamido-2-[[(2S)-1-[(2S)-5-oxopyrrolidine-2-carbonyl]pyrrolidine-2-carbonyl]amino]pentanoyl]amino]pentanoyl]amino]hexanoyl]amino]-4-methylpentanoyl]amino]-16,29a,72,78-tetrakis(2-amino-2-oxoethyl)-14a,26a-bis(3-amino-3-oxopropyl)-2a,38a,66-tribenzyl-28,50a,57-tris[(2S)-butan-2-yl]-4,5a,19,42,45,69-hexakis(3-carbamimidamidopropyl)-51,54-bis(2-carboxyethyl)-56a,99-bis(carboxymethyl)-36-[[(2S,3S)-1-(carboxymethylamino)-3-methyl-1-oxopentan-2-yl]carbamoyl]-39,60-bis[(1R)-1-hydroxyethyl]-75,93-bis(hydroxymethyl)-32a,35a,59a-tris[(4-hydroxyphenyl)methyl]-22-(1H-imidazol-4-ylmethyl)-96-(1H-indol-3-ylmethyl)-41a-methyl-25-(2-methylpropyl)-1a,3,4a,6,7a,9,10a,13a,15,16a,18,19a,21,22a,24,25a,27,28a,30,31a,34a,37a,38,40a,41,43a,44,47,49a,50,52a,53,55a,56,58a,59,61a,62,65,68,71,74,77,80,83,86,89,92,95,98-pentacontaoxo-33,34,63a,64a,67a,68a-hexathia-a,2,3a,5,6a,8,9a,12a,14,15a,17,18a,20,21a,23,24a,26,27a,29,30a,33a,36a,37,39a,40,42a,43,46,48a,49,51a,52,54a,55,57a,58,60a,61,64,67,70,73,76,79,82,85,88,91,94,97-pentacontazapentacyclo[85.74.4.448,111.010,14.0144,148]nonahexacontahectan-8a-yl]propanoic acid | 2198828: Binding affinity to KV channel (unknown origin) assessed as inhibition constant | ki | 0.0001 | uM |
CTD chemical–gene interactions
9 total (human), top 9 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| aristolochic acid I | decreases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Estradiol | affects cotreatment, increases expression | 1 |
| Plant Extracts | affects cotreatment, decreases expression | 1 |
| Rotenone | decreases expression | 1 |
| Silicon Dioxide | decreases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Triclosan | decreases expression | 1 |
ChEMBL screening assays
21 unique, capped per target: 20 binding, 1 toxicity
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL1787442 | Binding | Inhibition of human recombinant Kv channel at 10 uM by radioligand binding assay | Structure-activity relationships of pyrrole based S-nitrosoglutathione reductase inhibitors: pyrrole regioisomers and propionic acid replacement. — Bioorg Med Chem Lett |
| CHEMBL5522525 | Toxicity | Inhibition of human K+ channel by automated electrophysiology | Discovery of Clinical Candidate AZD5462, a Selective Oral Allosteric RXFP1 Agonist for Treatment of Heart Failure. — J Med Chem |
Cellosaurus cell lines
1 cell lines: 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_YA69 | IDG-HEK293T-KCNS1-V5-OE | Transformed cell line | Female |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.