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) [1] Band 9q34.3 Start 135,702,185 bp [1] End 135,795,508 bp [1]
Gene location (Mouse) Chr. Chromosome 2 (mouse) [2] Band 2|2 A3 Start 25,753,746 bp [2] End 25,808,285 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) 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 BioGPS 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 Species Human Mouse Entrez 57582 227632 Ensembl ENSG00000107147 ENSMUSG00000058740 UniProt Q5JUK3 Q6ZPR4 RefSeq (mRNA) NM_001272003 NM_020822 NM_001145403 NM_175462 NM_001302351 RefSeq (protein) NP_001258932 NP_065873 NP_001138875 NP_001289280 NP_780671 Location (UCSC) Chr 9: 135.7 – 135.8 Mb Chr 2: 25.75 – 25.81 Mb PubMed search [3] [4]
Wikidata
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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]

See also

• SK channel
• Voltage-gated potassium channel

References

1. GRCh38: Ensembl release 89: ENSG00000107147 – Ensembl, May 2017
2. 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.
5. "Entrez Gene: KCNT1 potassium channel, subfamily T, member 1".
6. "OMIM: 614959".{{cite web}}: Missing or empty |url= (help)

Further reading

• Nagase T, Kikuno R, Ishikawa KI, et al. (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 Res. 7 (1): 65–73. doi: 10.1093/dnares/7.1.65 . PMID   10718198.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi: 10.1073/pnas.242603899 . PMC   139241 . PMID   12477932.
• Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC   1356129 . PMID   16344560.
• Humphray SJ, Oliver K, Hunt AR, et al. (2004). "DNA sequence and analysis of human chromosome 9". Nature. 429 (6990): 369–74. Bibcode:2004Natur.429..369H. doi:10.1038/nature02465. PMC   2734081 . PMID   15164053.
• Wei AD, Gutman GA, Aldrich R, et al. (2005). "International Union of Pharmacology. LII. Nomenclature and molecular relationships of calcium-activated potassium channels". Pharmacol. Rev. 57 (4): 463–72. doi:10.1124/pr.57.4.9. PMID   16382103. S2CID   8290401.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi: 10.1038/ng1285 . PMID   14702039.