KCNT1

KCNT1
Identifiers
Aliases	KCNT1, EIEE14, ENFL5, KCa4.1, SLACK, bA100C15.2, Slo2.2, potassium sodium-activated channel subfamily T member 1, DEE14
External IDs	OMIM: 608167; MGI: 1924627; HomoloGene: 11055; GeneCards: KCNT1; OMA:KCNT1 - orthologs
Gene location (Human)
Chr.	Chromosome 9 (human)
End	135,795,508 bp
Gene location (Mouse)
Chr.	Chromosome 2 (mouse)
End	25,808,285 bp
RNA expression pattern
	Top expressed in
	right hemisphere of cerebellum; ; right frontal lobe; ; Brodmann area 9; ; anterior cingulate cortex; ; gastrocnemius muscle; ; putamen; ; muscle of thigh; ; prefrontal cortex; ; caudate nucleus; ; spleen;
	Top expressed in
	cerebellar cortex; ; superior frontal gyrus; ; primary visual cortex; ; lobe of cerebellum; ; cerebellar vermis; ; olfactory tubercle; ; superior colliculus; ; inferior colliculi; ; central gray substance of midbrain; ; lateral septal nucleus;
	More reference expression data
	n/a
Gene ontology
Molecular function	voltage-gated potassium channel activity; potassium channel activity; calcium-activated potassium channel activity; intracellular sodium activated potassium channel activity; outward rectifier potassium channel activity;
Cellular component	integral component of membrane; voltage-gated potassium channel complex; plasma membrane; membrane;
Biological process	potassium ion transport; ion transport; potassium ion transmembrane transport; regulation of membrane potential;
	Sources:Amigo / QuickGO
Orthologs
	57582
	227632
	ENSG00000107147
	ENSMUSG00000058740
	Q5JUK3
	Q6ZPR4
	NM_001272003; NM_020822
	NM_001145403; NM_175462; NM_001302351
	NP_001258932; NP_065873
	NP_001138875; NP_001289280; NP_780671
	Wikidata
View/Edit Human	View/Edit Mouse

Potassium channel subfamily T, member 1, also known as KCNT1 or SLACK is a human gene that encodes the K_Ca4.1 protein. K_Ca4.1 is a member of the calcium-activated potassium channel protein family ^[5]

Associated Conditions

Mutations in the KCNT1 gene has been shown to be a cause of Ohtahara syndrome and other congenital neurodegenerative diseases. ^[6]

Therapeutic research

Preclinical and translational studies have investigated antisense oligonucleotide knockdown of KCNT1 as a potential therapy for KCNT1-associated developmental and epileptic encephalopathies, including studies in patient-derived neurons and prenatal human neuronal tissue. ^[7]

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000107147 – Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000058740 – Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Entrez Gene: KCNT1 potassium channel, subfamily T, member 1".
↑ Møller RS, Heron SE, Larsen LH, Lim CX, Ricos MG, Bayly MA, et al. (September 2015). "Mutations in KCNT1 cause a spectrum of focal epilepsies". Epilepsia. 56 (9): e114–20. doi:10.1111/epi.13071. PMC 5915334. PMID 26122718.
↑ Golinski SR, Soriano K, Briegel AC, Burke MC, Tang S, Carvill GL, et al. (April 2026). "RNA targeting therapy for a prenatally enriched potassium channel associated with severe childhood epilepsy and premature death". Nature Communications. doi:10.1038/s41467-026-72334-7. PMID 42056090.

Nagase T, Kikuno R, Ishikawa KI, Hirosawa M, Ohara O (February 2000). "Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro". DNA Research. 7 (1): 65–73. doi:10.1093/dnares/7.1.65. PMID 10718198.
Kimura K, Wakamatsu A, Suzuki Y, Ota T, Nishikawa T, Yamashita R, et al. (January 2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes". Genome Research. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.
Wei AD, Gutman GA, Aldrich R, Chandy KG, Grissmer S, Wulff H (December 2005). "International Union of Pharmacology. LII. Nomenclature and molecular relationships of calcium-activated potassium channels". Pharmacological Reviews. 57 (4): 463–472. doi:10.1124/pr.57.4.9. PMID 16382103. S2CID 8290401.

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[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000107147 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000058740 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-5] "Entrez Gene: KCNT1 potassium channel, subfamily T, member 1".

[pmid26122718-6] Møller RS, Heron SE, Larsen LH, Lim CX, Ricos MG, Bayly MA, et al. (September 2015). "Mutations in KCNT1 cause a spectrum of focal epilepsies". Epilepsia. 56 (9): e114–20. doi:10.1111/epi.13071. PMC 5915334. PMID 26122718.

[7] Golinski SR, Soriano K, Briegel AC, Burke MC, Tang S, Carvill GL, et al. (April 2026). "RNA targeting therapy for a prenatally enriched potassium channel associated with severe childhood epilepsy and premature death". Nature Communications. doi:10.1038/s41467-026-72334-7. PMID 42056090.

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KCNT1

Associated Conditions

Therapeutic research

See also

References

Further reading