Gene Gene information from NCBI Gene database.
Entrez ID 3787
Gene name Potassium voltage-gated channel modifier subfamily S member 1
Gene symbol KCNS1
Synonyms (NCBI Gene)
Kv9.1hKv9.1
Chromosome 20
Chromosome location 20q13.12
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 contro
miRNA miRNA information provided by mirtarbase database.
102
miRTarBase ID miRNA Experiments Reference
MIRT1082390 hsa-miR-1193 CLIP-seq
MIRT1082391 hsa-miR-1225-5p CLIP-seq
MIRT1082392 hsa-miR-1254 CLIP-seq
MIRT1082393 hsa-miR-1293 CLIP-seq
MIRT1082394 hsa-miR-1324 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
32
GO ID Ontology Definition Evidence Reference
GO:0001508 Process Action potential IBA
GO:0005216 Function Monoatomic ion channel activity IEA
GO:0005249 Function Voltage-gated potassium channel activity IEA
GO:0005267 Function Potassium channel activity IEA
GO:0005515 Function Protein binding IPI 10484328
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602905 6300 ENSG00000124134
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96KK3
Protein name Delayed-rectifier potassium channel regulatory subunit KCNS1 (Delayed-rectifier K(+) channel alpha subunit 1) (Delayed-rectifier potassium channel subunit Kv9.1) (hKv9.1) (Potassium voltage-gated channel modifier subfamily S member 1)
Protein 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 va
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02214 BTB_2 52 151 BTB/POZ domain Domain
PF00520 Ion_trans 219 468 Ion transport protein Family
Tissue specificity TISSUE SPECIFICITY: Detected in all tissues tested with the exception of skeletal muscle (PubMed:10484328). Highly expressed in adult and fetal brain, fetal kidney and lung, and adult prostate and testis (PubMed:10484328). {ECO:0000269|PubMed:10484328}.
Sequence
Sequence length 526
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Voltage gated Potassium channels
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
BIPOLAR DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Familial cancer of breast Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SYMPTOMS OF DEPRESSION Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Anxiety Anxiety Disorder BEFREE 24373571
★☆☆☆☆
Found in Text Mining only
Anxiety Disorders Anxiety Disorder BEFREE 24373571
★☆☆☆☆
Found in Text Mining only
Anxiety Disorders Anxiety disorder Pubtator 26945673 Associate
★☆☆☆☆
Found in Text Mining only
Depressive Disorder Major depressive disorder Pubtator 24373571 Associate
★☆☆☆☆
Found in Text Mining only
Intracranial Hypertension Intracranial hypertension Pubtator 27487831 Stimulate
★☆☆☆☆
Found in Text Mining only
Osteoporosis Osteoporosis Pubtator 29568943 Associate
★☆☆☆☆
Found in Text Mining only
Sensory neuropathy Sensory neuropathy BEFREE 23314412
★☆☆☆☆
Found in Text Mining only